Mutagenetix > Incidental Mutation

Incidental Mutation 'R0015:Xirp2'

8328

Institutional Source

Beutler Lab

Gene Symbol

Xirp2

Ensembl Gene

ENSMUSG00000027022

Gene Name

xin actin-binding repeat containing 2

Synonyms

mXin beta, 2310008C07Rik, 2310003D02Rik, Cmya3, myomaxin, A530024P18Rik

MMRRC Submission

038310-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.321) question?

Stock #

R0015 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

67276343-67356964 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 67341243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1161 (Y1161*)

Ref Sequence

ENSEMBL: ENSMUSP00000107966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028410] [ENSMUST00000112347]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000028410
AA Change: Y1161*

SMART Domains

Protein: ENSMUSP00000028410
Gene: ENSMUSG00000027022
AA Change: Y1161*

Domain	Start	End	E-Value	Type
low complexity region	176	188	N/A	INTRINSIC
low complexity region	194	208	N/A	INTRINSIC
low complexity region	289	298	N/A	INTRINSIC
Pfam:Xin	343	358	4e-9	PFAM
Pfam:Xin	384	398	7.6e-10	PFAM
Pfam:Xin	420	435	6.4e-9	PFAM
Pfam:Xin	458	473	5.3e-9	PFAM
Pfam:Xin	536	551	4.1e-12	PFAM
Pfam:Xin	574	588	2.1e-8	PFAM
Pfam:Xin	609	623	6e-9	PFAM
Pfam:Xin	642	656	5.6e-8	PFAM
Pfam:Xin	679	693	5.9e-8	PFAM
Pfam:Xin	784	799	1.1e-10	PFAM
Pfam:Xin	822	837	3.9e-11	PFAM
Pfam:Xin	861	875	8.6e-12	PFAM
Pfam:Xin	894	909	2.8e-10	PFAM
Pfam:Xin	1006	1021	3.1e-9	PFAM
Pfam:Xin	1079	1094	6.7e-10	PFAM
Pfam:Xin	1117	1132	1.5e-10	PFAM
Pfam:Xin	1154	1169	2.4e-8	PFAM
Pfam:Xin	1256	1271	4.6e-8	PFAM
Pfam:Xin	1292	1305	1.6e-8	PFAM
low complexity region	1314	1325	N/A	INTRINSIC
low complexity region	1547	1559	N/A	INTRINSIC
coiled coil region	1683	1704	N/A	INTRINSIC
low complexity region	1862	1871	N/A	INTRINSIC
low complexity region	2031	2043	N/A	INTRINSIC
low complexity region	2052	2063	N/A	INTRINSIC
low complexity region	2087	2093	N/A	INTRINSIC
low complexity region	2105	2123	N/A	INTRINSIC
low complexity region	2159	2177	N/A	INTRINSIC
coiled coil region	2288	2311	N/A	INTRINSIC
coiled coil region	2738	2767	N/A	INTRINSIC
low complexity region	2794	2804	N/A	INTRINSIC
low complexity region	2906	2919	N/A	INTRINSIC
LIM	3256	3308	4.45e-12	SMART
low complexity region	3356	3367	N/A	INTRINSIC
low complexity region	3549	3565	N/A	INTRINSIC
low complexity region	3614	3625	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112347
AA Change: Y1161*

SMART Domains

Protein: ENSMUSP00000107966
Gene: ENSMUSG00000027022
AA Change: Y1161*

Domain	Start	End	E-Value	Type
low complexity region	176	188	N/A	INTRINSIC
low complexity region	194	208	N/A	INTRINSIC
low complexity region	289	298	N/A	INTRINSIC
Pfam:Xin	343	358	4.3e-8	PFAM
Pfam:Xin	383	398	6.9e-9	PFAM
Pfam:Xin	420	435	1.8e-8	PFAM
Pfam:Xin	458	473	6.9e-8	PFAM
Pfam:Xin	536	551	2.8e-10	PFAM
Pfam:Xin	608	623	2.4e-8	PFAM
Pfam:Xin	642	657	1.7e-7	PFAM
Pfam:Xin	784	799	3.5e-9	PFAM
Pfam:Xin	822	837	8.9e-10	PFAM
Pfam:Xin	861	876	3.9e-10	PFAM
Pfam:Xin	894	909	5.4e-9	PFAM
Pfam:Xin	1006	1021	6.2e-8	PFAM
Pfam:Xin	1079	1094	2.4e-8	PFAM
Pfam:Xin	1117	1132	9.5e-9	PFAM
Pfam:Xin	1291	1306	5.8e-8	PFAM
low complexity region	1314	1325	N/A	INTRINSIC
low complexity region	1547	1559	N/A	INTRINSIC
coiled coil region	1683	1704	N/A	INTRINSIC
low complexity region	1862	1871	N/A	INTRINSIC
low complexity region	2031	2043	N/A	INTRINSIC
low complexity region	2052	2063	N/A	INTRINSIC
low complexity region	2087	2093	N/A	INTRINSIC
low complexity region	2105	2123	N/A	INTRINSIC
low complexity region	2159	2177	N/A	INTRINSIC
coiled coil region	2288	2311	N/A	INTRINSIC
coiled coil region	2738	2767	N/A	INTRINSIC
low complexity region	2794	2804	N/A	INTRINSIC
low complexity region	2906	2919	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142314

Meta Mutation Damage Score

0.9717

Coding Region Coverage

1x: 80.5%
3x: 72.2%
10x: 49.0%
20x: 28.4%

Validation Efficiency

90% (88/98)

MGI Phenotype

PHENOTYPE: Homozygous null mice have an abnormal heart shape, ventricular septal defects, a failure of mature intercalated disc formation, severe growth retardation, and postnatal lethality. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted(5)

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130050O07Rik	A	G	1: 137,856,394 (GRCm39)	Y23C	unknown	Het
Aadat	C	T	8: 60,987,605 (GRCm39)		probably benign	Het
Adcy3	G	A	12: 4,245,260 (GRCm39)		probably null	Het
Armc3	A	G	2: 19,301,132 (GRCm39)		probably null	Het
Astn2	T	G	4: 66,184,619 (GRCm39)		probably null	Het
Borcs8	T	C	8: 70,593,017 (GRCm39)		probably benign	Het
Cacna1d	G	A	14: 29,836,928 (GRCm39)	T804I	probably benign	Het
Card19	A	G	13: 49,361,532 (GRCm39)	L33P	probably benign	Het
Ccny	A	C	18: 9,316,682 (GRCm39)		probably benign	Het
Cdh5	C	T	8: 104,867,559 (GRCm39)	T612I	probably benign	Het
Cfap58	A	G	19: 48,017,539 (GRCm39)	M800V	probably benign	Het
Clrn1	A	T	3: 58,753,848 (GRCm39)	I171K	probably damaging	Het
Cnp	T	A	11: 100,469,734 (GRCm39)		probably null	Het
Col12a1	T	C	9: 79,558,667 (GRCm39)	T1933A	probably damaging	Het
Cplane1	G	A	15: 8,215,668 (GRCm39)	R408H	probably damaging	Het
Cwf19l2	A	G	9: 3,454,666 (GRCm39)	S660G	probably benign	Het
Dync1i2	C	A	2: 71,044,828 (GRCm39)	R13S	probably damaging	Het
Fat4	T	A	3: 39,036,652 (GRCm39)	S3435T	probably damaging	Het
Fchsd1	A	G	18: 38,096,012 (GRCm39)	C533R	probably benign	Het
Fstl5	G	A	3: 76,229,498 (GRCm39)	V100M	probably damaging	Het
Gria2	C	T	3: 80,615,074 (GRCm39)	G469S	probably damaging	Het
Hsf5	C	A	11: 87,548,161 (GRCm39)	H615N	probably benign	Het
Ints2	T	C	11: 86,140,113 (GRCm39)	T240A	probably damaging	Het
Kcnn3	A	C	3: 89,570,080 (GRCm39)	D631A	probably damaging	Het
Lama4	C	T	10: 38,951,432 (GRCm39)	T1059M	possibly damaging	Het
Lgals8	A	G	13: 12,462,179 (GRCm39)	L226P	probably damaging	Het
Lonp1	T	A	17: 56,925,406 (GRCm39)	Q462L	probably benign	Het
Mark2	A	T	19: 7,263,142 (GRCm39)	Y231*	probably null	Het
Mdh1b	T	C	1: 63,760,959 (GRCm39)		probably benign	Het
Myh7b	C	T	2: 155,464,206 (GRCm39)	P569L	probably damaging	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Ncapd3	C	A	9: 26,963,105 (GRCm39)	A470E	probably damaging	Het
Ndrg2	A	G	14: 52,147,902 (GRCm39)		probably benign	Het
Nprl2	A	T	9: 107,421,618 (GRCm39)	I209F	probably damaging	Het
Pcf11	T	A	7: 92,307,525 (GRCm39)	H881L	probably benign	Het
Pde10a	A	G	17: 9,196,029 (GRCm39)	D640G	probably damaging	Het
Pdxdc1	A	T	16: 13,705,547 (GRCm39)		probably benign	Het
Polr2g	A	G	19: 8,771,016 (GRCm39)	I160T	probably damaging	Het
Pter	G	A	2: 13,005,811 (GRCm39)	G328D	probably damaging	Het
Rad51	T	A	2: 118,946,808 (GRCm39)	M5K	probably benign	Het
Rbm43	T	A	2: 51,815,679 (GRCm39)	I181F	probably benign	Het
Rgs12	T	C	5: 35,180,120 (GRCm39)		probably benign	Het
Slc20a2	C	A	8: 23,025,361 (GRCm39)	A21E	probably damaging	Het
Sybu	T	C	15: 44,536,896 (GRCm39)	R349G	probably damaging	Het
Tmem161b	C	A	13: 84,370,533 (GRCm39)		probably null	Het
Zfand4	C	A	6: 116,305,258 (GRCm39)	T705K	probably damaging	Het

Other mutations in Xirp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Xirp2	APN	2	67,343,719 (GRCm39)	missense	probably benign	0.37
IGL00336:Xirp2	APN	2	67,342,942 (GRCm39)	missense	possibly damaging	0.93
IGL00596:Xirp2	APN	2	67,345,226 (GRCm39)	missense	probably benign	0.08
IGL00862:Xirp2	APN	2	67,347,247 (GRCm39)	missense	probably benign	0.00
IGL01124:Xirp2	APN	2	67,338,959 (GRCm39)	missense	probably damaging	0.99
IGL01289:Xirp2	APN	2	67,343,525 (GRCm39)	missense	probably damaging	0.99
IGL01293:Xirp2	APN	2	67,345,528 (GRCm39)	missense	possibly damaging	0.51
IGL01372:Xirp2	APN	2	67,344,334 (GRCm39)	missense	possibly damaging	0.93
IGL01385:Xirp2	APN	2	67,340,021 (GRCm39)	missense	probably damaging	0.99
IGL01411:Xirp2	APN	2	67,344,427 (GRCm39)	missense	probably benign	0.00
IGL01413:Xirp2	APN	2	67,340,270 (GRCm39)	missense	probably damaging	1.00
IGL01551:Xirp2	APN	2	67,343,849 (GRCm39)	missense	probably benign
IGL01672:Xirp2	APN	2	67,338,846 (GRCm39)	missense	probably benign
IGL01724:Xirp2	APN	2	67,356,411 (GRCm39)	missense	probably benign
IGL01739:Xirp2	APN	2	67,345,482 (GRCm39)	missense	probably benign	0.15
IGL01807:Xirp2	APN	2	67,345,375 (GRCm39)	missense	probably benign
IGL02006:Xirp2	APN	2	67,342,306 (GRCm39)	missense	possibly damaging	0.85
IGL02030:Xirp2	APN	2	67,339,325 (GRCm39)	missense	probably benign	0.06
IGL02066:Xirp2	APN	2	67,356,415 (GRCm39)	missense	probably benign
IGL02138:Xirp2	APN	2	67,347,300 (GRCm39)	missense	probably benign	0.15
IGL02250:Xirp2	APN	2	67,344,356 (GRCm39)	missense	probably benign	0.03
IGL02265:Xirp2	APN	2	67,347,494 (GRCm39)	missense	possibly damaging	0.94
IGL02274:Xirp2	APN	2	67,338,995 (GRCm39)	missense	probably benign	0.12
IGL02322:Xirp2	APN	2	67,339,082 (GRCm39)	missense	probably benign	0.00
IGL02327:Xirp2	APN	2	67,340,444 (GRCm39)	missense	probably damaging	1.00
IGL02378:Xirp2	APN	2	67,344,112 (GRCm39)	missense	probably benign	0.00
IGL02492:Xirp2	APN	2	67,346,511 (GRCm39)	missense	probably damaging	0.99
IGL02549:Xirp2	APN	2	67,343,446 (GRCm39)	missense	probably benign	0.03
IGL02578:Xirp2	APN	2	67,341,591 (GRCm39)	missense	probably damaging	0.96
IGL02635:Xirp2	APN	2	67,338,254 (GRCm39)	missense	possibly damaging	0.86
IGL02654:Xirp2	APN	2	67,345,015 (GRCm39)	missense	possibly damaging	0.86
IGL02663:Xirp2	APN	2	67,339,802 (GRCm39)	missense	possibly damaging	0.92
IGL02795:Xirp2	APN	2	67,339,480 (GRCm39)	missense	probably damaging	1.00
IGL02934:Xirp2	APN	2	67,346,020 (GRCm39)	missense	probably benign	0.33
IGL03003:Xirp2	APN	2	67,345,906 (GRCm39)	missense	possibly damaging	0.93
IGL03069:Xirp2	APN	2	67,339,876 (GRCm39)	missense	possibly damaging	0.91
IGL03286:Xirp2	APN	2	67,346,654 (GRCm39)	missense	probably damaging	0.99
IGL03326:Xirp2	APN	2	67,312,590 (GRCm39)	missense	probably benign	0.01
IGL03381:Xirp2	APN	2	67,344,570 (GRCm39)	missense	probably benign	0.34
IGL03394:Xirp2	APN	2	67,345,538 (GRCm39)	missense	probably damaging	0.99
Ordovician	UTSW	2	67,312,707 (GRCm39)	missense	possibly damaging	0.72
silurian	UTSW	2	67,349,609 (GRCm39)	missense	probably damaging	0.99
3-1:Xirp2	UTSW	2	67,338,542 (GRCm39)	missense	possibly damaging	0.95
H8562:Xirp2	UTSW	2	67,345,801 (GRCm39)	missense	probably benign
PIT4142001:Xirp2	UTSW	2	67,349,706 (GRCm39)	splice site	probably benign
PIT4260001:Xirp2	UTSW	2	67,341,941 (GRCm39)	missense	possibly damaging	0.96
PIT4445001:Xirp2	UTSW	2	67,340,116 (GRCm39)	missense	possibly damaging	0.84
PIT4531001:Xirp2	UTSW	2	67,345,826 (GRCm39)	missense	possibly damaging	0.73
R0063:Xirp2	UTSW	2	67,339,427 (GRCm39)	missense	probably damaging	0.99
R0063:Xirp2	UTSW	2	67,339,427 (GRCm39)	missense	probably damaging	0.99
R0066:Xirp2	UTSW	2	67,342,484 (GRCm39)	missense	possibly damaging	0.85
R0109:Xirp2	UTSW	2	67,349,622 (GRCm39)	missense	probably damaging	1.00
R0111:Xirp2	UTSW	2	67,338,722 (GRCm39)	missense	probably damaging	0.99
R0115:Xirp2	UTSW	2	67,340,253 (GRCm39)	missense	possibly damaging	0.92
R0117:Xirp2	UTSW	2	67,347,464 (GRCm39)	missense	possibly damaging	0.94
R0133:Xirp2	UTSW	2	67,347,468 (GRCm39)	missense	probably benign
R0282:Xirp2	UTSW	2	67,343,724 (GRCm39)	missense	probably damaging	0.96
R0463:Xirp2	UTSW	2	67,345,262 (GRCm39)	missense	probably benign	0.02
R0481:Xirp2	UTSW	2	67,340,253 (GRCm39)	missense	possibly damaging	0.92
R0488:Xirp2	UTSW	2	67,345,165 (GRCm39)	missense	possibly damaging	0.90
R0548:Xirp2	UTSW	2	67,344,758 (GRCm39)	missense	probably benign	0.00
R0557:Xirp2	UTSW	2	67,346,695 (GRCm39)	missense	probably benign	0.33
R0582:Xirp2	UTSW	2	67,339,210 (GRCm39)	missense	probably benign
R0723:Xirp2	UTSW	2	67,342,559 (GRCm39)	missense	probably damaging	0.98
R0835:Xirp2	UTSW	2	67,338,254 (GRCm39)	missense	possibly damaging	0.86
R1160:Xirp2	UTSW	2	67,340,231 (GRCm39)	missense	possibly damaging	0.92
R1189:Xirp2	UTSW	2	67,343,805 (GRCm39)	missense	probably damaging	0.96
R1474:Xirp2	UTSW	2	67,355,411 (GRCm39)	missense	probably benign	0.00
R1513:Xirp2	UTSW	2	67,341,874 (GRCm39)	missense	probably benign	0.00
R1514:Xirp2	UTSW	2	67,344,667 (GRCm39)	nonsense	probably null
R1519:Xirp2	UTSW	2	67,346,023 (GRCm39)	missense	probably benign	0.44
R1532:Xirp2	UTSW	2	67,344,283 (GRCm39)	missense	probably benign	0.00
R1537:Xirp2	UTSW	2	67,340,357 (GRCm39)	missense	probably damaging	0.98
R1541:Xirp2	UTSW	2	67,342,634 (GRCm39)	missense	possibly damaging	0.70
R1543:Xirp2	UTSW	2	67,338,383 (GRCm39)	missense	probably benign
R1607:Xirp2	UTSW	2	67,340,639 (GRCm39)	nonsense	probably null
R1620:Xirp2	UTSW	2	67,341,179 (GRCm39)	missense	probably damaging	0.98
R1709:Xirp2	UTSW	2	67,340,215 (GRCm39)	missense	probably benign	0.33
R1713:Xirp2	UTSW	2	67,342,762 (GRCm39)	missense	probably benign	0.25
R1828:Xirp2	UTSW	2	67,345,582 (GRCm39)	missense	possibly damaging	0.86
R1834:Xirp2	UTSW	2	67,341,484 (GRCm39)	missense	probably damaging	0.99
R1905:Xirp2	UTSW	2	67,346,700 (GRCm39)	missense	probably damaging	0.98
R1907:Xirp2	UTSW	2	67,346,700 (GRCm39)	missense	probably damaging	0.98
R1943:Xirp2	UTSW	2	67,342,959 (GRCm39)	missense	probably benign	0.34
R1971:Xirp2	UTSW	2	67,342,039 (GRCm39)	missense	possibly damaging	0.48
R1998:Xirp2	UTSW	2	67,339,393 (GRCm39)	missense	probably damaging	0.97
R2075:Xirp2	UTSW	2	67,340,545 (GRCm39)	missense	probably benign	0.33
R2132:Xirp2	UTSW	2	67,338,392 (GRCm39)	missense	possibly damaging	0.72
R2175:Xirp2	UTSW	2	67,340,258 (GRCm39)	missense	probably damaging	0.99
R2310:Xirp2	UTSW	2	67,356,591 (GRCm39)	missense	probably benign	0.19
R2338:Xirp2	UTSW	2	67,341,114 (GRCm39)	missense	probably damaging	0.98
R2426:Xirp2	UTSW	2	67,344,815 (GRCm39)	missense	probably benign	0.02
R2483:Xirp2	UTSW	2	67,355,336 (GRCm39)	missense	probably benign
R3084:Xirp2	UTSW	2	67,339,393 (GRCm39)	missense	probably damaging	0.97
R3113:Xirp2	UTSW	2	67,340,491 (GRCm39)	missense	probably benign	0.33
R3903:Xirp2	UTSW	2	67,338,380 (GRCm39)	missense	probably benign	0.40
R3916:Xirp2	UTSW	2	67,341,766 (GRCm39)	missense	probably benign	0.25
R3928:Xirp2	UTSW	2	67,342,013 (GRCm39)	missense	possibly damaging	0.85
R4025:Xirp2	UTSW	2	67,341,746 (GRCm39)	missense	probably benign	0.12
R4135:Xirp2	UTSW	2	67,355,741 (GRCm39)	missense	probably benign	0.00
R4223:Xirp2	UTSW	2	67,346,837 (GRCm39)	missense	possibly damaging	0.66
R4257:Xirp2	UTSW	2	67,346,383 (GRCm39)	missense	probably benign	0.31
R4499:Xirp2	UTSW	2	67,343,782 (GRCm39)	missense	probably benign	0.08
R4577:Xirp2	UTSW	2	67,344,241 (GRCm39)	missense	probably damaging	0.99
R4739:Xirp2	UTSW	2	67,349,609 (GRCm39)	missense	probably damaging	0.99
R4758:Xirp2	UTSW	2	67,346,879 (GRCm39)	missense	probably damaging	0.98
R4834:Xirp2	UTSW	2	67,346,750 (GRCm39)	missense	probably benign	0.26
R4855:Xirp2	UTSW	2	67,341,408 (GRCm39)	missense	possibly damaging	0.96
R4923:Xirp2	UTSW	2	67,343,237 (GRCm39)	missense	probably benign
R4936:Xirp2	UTSW	2	67,340,163 (GRCm39)	missense	possibly damaging	0.85
R5032:Xirp2	UTSW	2	67,356,014 (GRCm39)	missense	possibly damaging	0.84
R5049:Xirp2	UTSW	2	67,347,478 (GRCm39)	missense	probably benign	0.03
R5077:Xirp2	UTSW	2	67,344,821 (GRCm39)	missense	probably benign
R5090:Xirp2	UTSW	2	67,355,814 (GRCm39)	missense	possibly damaging	0.83
R5107:Xirp2	UTSW	2	67,340,054 (GRCm39)	missense	probably damaging	0.99
R5107:Xirp2	UTSW	2	67,342,205 (GRCm39)	missense	probably damaging	1.00
R5187:Xirp2	UTSW	2	67,345,711 (GRCm39)	missense	probably benign	0.01
R5241:Xirp2	UTSW	2	67,312,704 (GRCm39)	nonsense	probably null
R5307:Xirp2	UTSW	2	67,341,506 (GRCm39)	missense	probably damaging	0.99
R5342:Xirp2	UTSW	2	67,343,805 (GRCm39)	missense	probably damaging	0.96
R5370:Xirp2	UTSW	2	67,342,496 (GRCm39)	missense	possibly damaging	0.72
R5375:Xirp2	UTSW	2	67,342,250 (GRCm39)	missense	probably damaging	0.99
R5407:Xirp2	UTSW	2	67,341,313 (GRCm39)	missense	probably benign	0.33
R5514:Xirp2	UTSW	2	67,335,465 (GRCm39)	missense	probably benign	0.03
R5531:Xirp2	UTSW	2	67,345,646 (GRCm39)	missense	probably benign	0.42
R5590:Xirp2	UTSW	2	67,344,379 (GRCm39)	missense	probably benign	0.23
R5646:Xirp2	UTSW	2	67,341,134 (GRCm39)	missense	probably damaging	0.99
R5649:Xirp2	UTSW	2	67,347,239 (GRCm39)	missense	probably benign	0.00
R5686:Xirp2	UTSW	2	67,312,642 (GRCm39)	missense	probably damaging	0.99
R5761:Xirp2	UTSW	2	67,341,311 (GRCm39)	missense	probably benign	0.00
R5777:Xirp2	UTSW	2	67,340,348 (GRCm39)	missense	possibly damaging	0.92
R5785:Xirp2	UTSW	2	67,340,006 (GRCm39)	missense	probably damaging	0.96
R5843:Xirp2	UTSW	2	67,307,129 (GRCm39)	start gained	probably benign
R5846:Xirp2	UTSW	2	67,339,587 (GRCm39)	missense	probably damaging	0.98
R5875:Xirp2	UTSW	2	67,335,424 (GRCm39)	missense	probably benign	0.00
R5896:Xirp2	UTSW	2	67,340,290 (GRCm39)	missense	possibly damaging	0.91
R5896:Xirp2	UTSW	2	67,339,042 (GRCm39)	missense	probably benign	0.32
R5901:Xirp2	UTSW	2	67,343,410 (GRCm39)	missense	possibly damaging	0.91
R5934:Xirp2	UTSW	2	67,355,148 (GRCm39)	missense	possibly damaging	0.92
R5950:Xirp2	UTSW	2	67,341,664 (GRCm39)	missense	possibly damaging	0.95
R5996:Xirp2	UTSW	2	67,341,994 (GRCm39)	missense	possibly damaging	0.91
R6013:Xirp2	UTSW	2	67,341,287 (GRCm39)	missense	possibly damaging	0.48
R6048:Xirp2	UTSW	2	67,338,587 (GRCm39)	missense	possibly damaging	0.96
R6111:Xirp2	UTSW	2	67,342,161 (GRCm39)	missense	possibly damaging	0.86
R6180:Xirp2	UTSW	2	67,335,921 (GRCm39)	critical splice donor site	probably null
R6342:Xirp2	UTSW	2	67,341,994 (GRCm39)	missense	possibly damaging	0.91
R6346:Xirp2	UTSW	2	67,346,425 (GRCm39)	missense	probably benign	0.00
R6603:Xirp2	UTSW	2	67,346,888 (GRCm39)	missense	probably benign
R6604:Xirp2	UTSW	2	67,340,189 (GRCm39)	missense	possibly damaging	0.86
R6669:Xirp2	UTSW	2	67,343,699 (GRCm39)	missense	possibly damaging	0.78
R6701:Xirp2	UTSW	2	67,346,569 (GRCm39)	missense	possibly damaging	0.94
R6726:Xirp2	UTSW	2	67,343,212 (GRCm39)	missense	possibly damaging	0.88
R6833:Xirp2	UTSW	2	67,340,294 (GRCm39)	missense	probably benign	0.12
R6897:Xirp2	UTSW	2	67,338,911 (GRCm39)	missense	probably damaging	1.00
R6933:Xirp2	UTSW	2	67,345,201 (GRCm39)	missense	probably benign	0.34
R7020:Xirp2	UTSW	2	67,355,913 (GRCm39)	missense	probably benign
R7042:Xirp2	UTSW	2	67,343,633 (GRCm39)	missense	probably benign	0.12
R7060:Xirp2	UTSW	2	67,345,952 (GRCm39)	missense	probably damaging	1.00
R7179:Xirp2	UTSW	2	67,340,177 (GRCm39)	missense	probably benign	0.00
R7229:Xirp2	UTSW	2	67,355,895 (GRCm39)	missense	probably damaging	0.99
R7253:Xirp2	UTSW	2	67,343,826 (GRCm39)	missense	probably benign
R7284:Xirp2	UTSW	2	67,347,173 (GRCm39)	missense	probably benign
R7450:Xirp2	UTSW	2	67,340,159 (GRCm39)	missense	possibly damaging	0.86
R7476:Xirp2	UTSW	2	67,340,978 (GRCm39)	missense	probably benign	0.01
R7489:Xirp2	UTSW	2	67,355,904 (GRCm39)	missense	possibly damaging	0.83
R7513:Xirp2	UTSW	2	67,341,108 (GRCm39)	missense	possibly damaging	0.86
R7549:Xirp2	UTSW	2	67,339,241 (GRCm39)	missense	possibly damaging	0.91
R7563:Xirp2	UTSW	2	67,340,245 (GRCm39)	missense	probably damaging	0.99
R7567:Xirp2	UTSW	2	67,346,326 (GRCm39)	missense	probably benign	0.02
R7577:Xirp2	UTSW	2	67,345,309 (GRCm39)	missense	possibly damaging	0.65
R7597:Xirp2	UTSW	2	67,356,099 (GRCm39)	missense	possibly damaging	0.84
R7610:Xirp2	UTSW	2	67,356,306 (GRCm39)	missense	possibly damaging	0.92
R7613:Xirp2	UTSW	2	67,344,842 (GRCm39)	missense	probably benign	0.00
R7669:Xirp2	UTSW	2	67,342,521 (GRCm39)	missense	probably benign	0.00
R7670:Xirp2	UTSW	2	67,340,917 (GRCm39)	missense	possibly damaging	0.91
R7673:Xirp2	UTSW	2	67,347,431 (GRCm39)	missense	probably damaging	1.00
R7682:Xirp2	UTSW	2	67,339,193 (GRCm39)	missense	probably damaging	0.99
R7755:Xirp2	UTSW	2	67,345,526 (GRCm39)	missense	probably benign
R7805:Xirp2	UTSW	2	67,340,325 (GRCm39)	missense	probably benign	0.23
R7815:Xirp2	UTSW	2	67,339,756 (GRCm39)	missense	probably damaging	1.00
R7823:Xirp2	UTSW	2	67,342,118 (GRCm39)	missense	probably damaging	1.00
R7842:Xirp2	UTSW	2	67,355,289 (GRCm39)	missense	probably benign	0.00
R7863:Xirp2	UTSW	2	67,343,074 (GRCm39)	missense	probably benign	0.03
R7895:Xirp2	UTSW	2	67,339,841 (GRCm39)	missense	probably damaging	0.96
R7948:Xirp2	UTSW	2	67,349,658 (GRCm39)	missense	possibly damaging	0.95
R8083:Xirp2	UTSW	2	67,339,043 (GRCm39)	missense	possibly damaging	0.71
R8125:Xirp2	UTSW	2	67,342,379 (GRCm39)	missense	probably benign	0.25
R8154:Xirp2	UTSW	2	67,342,017 (GRCm39)	missense	possibly damaging	0.48
R8169:Xirp2	UTSW	2	67,343,543 (GRCm39)	missense	probably benign	0.00
R8213:Xirp2	UTSW	2	67,307,210 (GRCm39)	missense	probably damaging	0.96
R8215:Xirp2	UTSW	2	67,346,853 (GRCm39)	missense	probably benign	0.08
R8230:Xirp2	UTSW	2	67,346,009 (GRCm39)	missense	probably damaging	0.99
R8266:Xirp2	UTSW	2	67,338,918 (GRCm39)	missense	probably damaging	0.98
R8350:Xirp2	UTSW	2	67,355,713 (GRCm39)	missense	probably benign
R8432:Xirp2	UTSW	2	67,340,962 (GRCm39)	missense	probably benign
R8441:Xirp2	UTSW	2	67,343,159 (GRCm39)	missense	possibly damaging	0.85
R8677:Xirp2	UTSW	2	67,346,978 (GRCm39)	missense	probably damaging	0.98
R8773:Xirp2	UTSW	2	67,355,527 (GRCm39)	missense	probably benign
R8794:Xirp2	UTSW	2	67,341,557 (GRCm39)	missense	probably damaging	0.98
R8930:Xirp2	UTSW	2	67,312,707 (GRCm39)	missense	possibly damaging	0.72
R8932:Xirp2	UTSW	2	67,312,707 (GRCm39)	missense	possibly damaging	0.72
R8939:Xirp2	UTSW	2	67,346,488 (GRCm39)	missense	probably benign	0.04
R9263:Xirp2	UTSW	2	67,345,289 (GRCm39)	missense	possibly damaging	0.76
R9313:Xirp2	UTSW	2	67,347,322 (GRCm39)	missense	probably damaging	0.99
R9350:Xirp2	UTSW	2	67,349,653 (GRCm39)	missense	probably damaging	1.00
R9375:Xirp2	UTSW	2	67,342,118 (GRCm39)	missense	probably damaging	1.00
R9442:Xirp2	UTSW	2	67,342,235 (GRCm39)	nonsense	probably null
R9447:Xirp2	UTSW	2	67,338,950 (GRCm39)	missense	probably damaging	0.98
R9457:Xirp2	UTSW	2	67,345,976 (GRCm39)	missense	probably benign	0.03
R9507:Xirp2	UTSW	2	67,344,280 (GRCm39)	missense	possibly damaging	0.95
R9529:Xirp2	UTSW	2	67,355,540 (GRCm39)	missense	possibly damaging	0.93
R9569:Xirp2	UTSW	2	67,341,242 (GRCm39)	missense	probably damaging	1.00
R9607:Xirp2	UTSW	2	67,341,106 (GRCm39)	missense	possibly damaging	0.72
R9648:Xirp2	UTSW	2	67,346,599 (GRCm39)	missense	probably benign
R9651:Xirp2	UTSW	2	67,344,167 (GRCm39)	missense	possibly damaging	0.72
R9678:Xirp2	UTSW	2	67,339,788 (GRCm39)	missense	possibly damaging	0.91
R9691:Xirp2	UTSW	2	67,340,539 (GRCm39)	missense	possibly damaging	0.91
R9777:Xirp2	UTSW	2	67,347,379 (GRCm39)	missense	possibly damaging	0.85
RF035:Xirp2	UTSW	2	67,355,888 (GRCm39)	utr 3 prime	probably benign
RF040:Xirp2	UTSW	2	67,355,888 (GRCm39)	utr 3 prime	probably benign
X0063:Xirp2	UTSW	2	67,346,467 (GRCm39)	missense	probably benign	0.04
X0065:Xirp2	UTSW	2	67,345,462 (GRCm39)	missense	probably benign	0.34
Z1088:Xirp2	UTSW	2	67,343,665 (GRCm39)	missense	probably benign	0.03
Z1176:Xirp2	UTSW	2	67,344,923 (GRCm39)	missense	probably benign	0.17
Z1176:Xirp2	UTSW	2	67,341,737 (GRCm39)	missense	probably damaging	0.99
Z1176:Xirp2	UTSW	2	67,355,576 (GRCm39)	missense	probably damaging	1.00
Z1177:Xirp2	UTSW	2	67,355,715 (GRCm39)	missense	probably benign
Z1177:Xirp2	UTSW	2	67,340,537 (GRCm39)	frame shift	probably null

Protein Function and Prediction

The Xirp2 gene encodes two isoforms of a protein that protects actin filaments from depolymerization. Studies have shown that XIRP2 (alternatively, cardiomyopathy associated gene 3; CMYA3), a member of the actin-binding Xin gene family, is an effector of angiogensin II signaling in the heart (1-3). Isoform 1 is 3784 amino acids long. The protein interacts with ACTN2 and F-actin. Protein expression is restricted to heart and skeletal muscle. The protein contains a LIM zinc-binding domain at amino acids 3255-3315 and 28 actin-binding Xin repeats (Uniprot Q4U4S6). Homozygous null mice have an abnormal heart shape, ventricular septal defects, a failure of mature intercalated disc formation, severe growth retardation, and postnatal lethality.

Expression/Localization

EST analysis has determined that XIRP2 is expressed in heart, tongue, and skeletal muscle (2). Another study using Northern blot analysis determined that XIRP2 in expressed in heart and skeletal muscle only (4). XIRP2 protein has been confirmed in striated muscle; immunohistochemistry revealed a striated pattern in mouse heart and colocalization with alpha-actinin-2 at Z discs and intercalated disk (4;5).

Background

Xirp2^{tm1Itl/tm1Itl}; MGI:4947971

Not Specified

Homozygotes have enlarged myocardial fibers, cardiac hypertrophy, and exhibit reduced responses to angiotensin II (1).

Xirp2^tm1Jl/tm1Jl; MGI:4453315

B6.129-Xirp2^tm1Jl

Homozygous null mice have an abnormal heart shape, ventricular septal defects, a failure of mature intercalated disc formation, severe growth retardation, and postnatal lethality (6).

References

1. McCalmon, S. A., Desjardins, D. M., Ahmad, S., Davidoff, K. S., Snyder, C. M., Sato, K., Ohashi, K., Kielbasa, O. M., Mathew, M., Ewen, E. P., Walsh, K., Gavras, H., and Naya, F. J. (2010) Modulation of Angiotensin II-Mediated Cardiac Remodeling by the MEF2A Target Gene Xirp2. Circ Res. 106, 952-960.

2. Pacholsky, D., Vakeel, P., Himmel, M., Lowe, T., Stradal, T., Rottner, K., Furst, D. O., and van der Ven, P. F. (2004) Xin Repeats Define a Novel Actin-Binding Motif. J Cell Sci. 117, 5257-5268.

3. Wang, D. Z., Reiter, R. S., Lin, J. L., Wang, Q., Williams, H. S., Krob, S. L., Schultheiss, T. M., Evans, S., and Lin, J. J. (1999) Requirement of a Novel Gene, Xin, in Cardiac Morphogenesis. Development. 126, 1281-1294.

4. Huang, H. T., Brand, O. M., Mathew, M., Ignatiou, C., Ewen, E. P., McCalmon, S. A., and Naya, F. J. (2006) Myomaxin is a Novel Transcriptional Target of MEF2A that Encodes a Xin-Related Alpha-Actinin-Interacting Protein. J Biol Chem. 281, 39370-39379.

5. Sinn, H. W., Balsamo, J., Lilien, J., and Lin, J. J. (2002) Localization of the Novel Xin Protein to the Adherens Junction Complex in Cardiac and Skeletal Muscle during Development. Dev Dyn. 225, 1-13.

6. Wang, Q., Lin, J. L., Reinking, B. E., Feng, H. Z., Chan, F. C., Lin, C. I., Jin, J. P., Gustafson-Wagner, E. A., Scholz, T. D., Yang, B., and Lin, J. J. (2010) Essential Roles of an Intercalated Disc Protein, mXinbeta, in Postnatal Heart Growth and Survival. Circ Res. 106, 1468-1478.

Posted On

2012-11-21

Science Writer

Anne Murray, Nora G. Smart