Mutagenetix > Incidental Mutation

Incidental Mutation 'R5656:Phactr2'

442335

Institutional Source

Beutler Lab

Gene Symbol

Phactr2

Ensembl Gene

ENSMUSG00000062866

Gene Name

phosphatase and actin regulator 2

Synonyms

MMRRC Submission

043302-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5656 (G1)

Quality Score

137

Status

Not validated

Chromosome

Chromosomal Location

13207717-13474412 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13388703 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 2 (D2G)

Ref Sequence

ENSEMBL: ENSMUSP00000101185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079698] [ENSMUST00000105545] [ENSMUST00000105546]

AlphaFold

B1AVP0

Predicted Effect

probably benign
Transcript: ENSMUST00000079698
AA Change: D2G

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000078637
Gene: ENSMUSG00000062866
AA Change: D2G

Domain	Start	End	E-Value	Type
low complexity region	39	54	N/A	INTRINSIC
RPEL	60	85	7.44e-6	SMART
low complexity region	154	179	N/A	INTRINSIC
low complexity region	208	218	N/A	INTRINSIC
low complexity region	250	270	N/A	INTRINSIC
low complexity region	378	388	N/A	INTRINSIC
RPEL	403	428	5.81e-8	SMART
RPEL	441	466	1.36e-8	SMART
RPEL	479	504	1.64e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105545

SMART Domains

Protein: ENSMUSP00000101184
Gene: ENSMUSG00000062866

Domain	Start	End	E-Value	Type
low complexity region	50	65	N/A	INTRINSIC
RPEL	71	96	7.44e-6	SMART
low complexity region	157	182	N/A	INTRINSIC
low complexity region	211	221	N/A	INTRINSIC
low complexity region	253	273	N/A	INTRINSIC
low complexity region	381	391	N/A	INTRINSIC
RPEL	406	431	5.81e-8	SMART
RPEL	444	469	1.36e-8	SMART
RPEL	482	507	1.64e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105546
AA Change: D2G

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101185
Gene: ENSMUSG00000062866
AA Change: D2G

Domain	Start	End	E-Value	Type
low complexity region	39	54	N/A	INTRINSIC
RPEL	60	85	7.44e-6	SMART
low complexity region	133	144	N/A	INTRINSIC
low complexity region	149	184	N/A	INTRINSIC
low complexity region	199	213	N/A	INTRINSIC
low complexity region	226	251	N/A	INTRINSIC
low complexity region	280	290	N/A	INTRINSIC
low complexity region	322	342	N/A	INTRINSIC
low complexity region	450	460	N/A	INTRINSIC
RPEL	475	500	5.81e-8	SMART
RPEL	513	538	1.36e-8	SMART
RPEL	551	576	1.64e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154265

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 105,709,512 (GRCm38)	S139G	probably benign	Het
Adrb3	T	C	8: 27,227,377 (GRCm38)	D348G	probably damaging	Het
Atg2b	A	G	12: 105,621,328 (GRCm38)	V1959A	probably benign	Het
Bicral	G	A	17: 46,808,369 (GRCm38)	T742M	probably damaging	Het
Bub1b	T	A	2: 118,605,431 (GRCm38)	I60N	probably damaging	Het
Ccdc162	A	G	10: 41,569,934 (GRCm38)	V414A	probably benign	Het
Cd22	T	G	7: 30,869,773 (GRCm38)	Y612S	probably damaging	Het
Cd68	T	A	11: 69,664,421 (GRCm38)	I320F	probably damaging	Het
Clca3a2	A	T	3: 144,797,632 (GRCm38)	N852K	probably benign	Het
Cpa6	T	A	1: 10,329,514 (GRCm38)	H363L	probably benign	Het
Ddx18	A	T	1: 121,561,358 (GRCm38)	L320Q	probably damaging	Het
Dnah5	A	G	15: 28,421,064 (GRCm38)	D3849G	probably benign	Het
Eci1	T	A	17: 24,437,309 (GRCm38)	N164K	probably damaging	Het
Efs	T	C	14: 54,917,127 (GRCm38)	T552A	probably damaging	Het
Fbp1	C	A	13: 62,875,196 (GRCm38)	V96L	probably damaging	Het
Gtf3c1	T	A	7: 125,662,654 (GRCm38)	N1139I	probably benign	Het
Gucy1b2	T	C	14: 62,422,981 (GRCm38)	Y152C	probably damaging	Het
Gxylt1	A	T	15: 93,245,661 (GRCm38)	L362Q	probably damaging	Het
Iqcd	A	G	5: 120,605,126 (GRCm38)		probably null	Het
Klhl41	T	A	2: 69,683,532 (GRCm38)	I585N	possibly damaging	Het
Map6	A	G	7: 99,336,298 (GRCm38)	K470E	probably damaging	Het
Mast3	T	C	8: 70,786,221 (GRCm38)	T496A	probably damaging	Het
Mbd6	A	T	10: 127,285,286 (GRCm38)		probably benign	Het
Melk	A	G	4: 44,312,237 (GRCm38)	K183R	possibly damaging	Het
Mta1	T	C	12: 113,123,139 (GRCm38)	V152A	probably damaging	Het
Naa35	G	A	13: 59,622,866 (GRCm38)		probably benign	Het
Nav3	A	C	10: 109,764,633 (GRCm38)	S1378A	probably damaging	Het
Ncapd3	T	A	9: 27,051,645 (GRCm38)	D415E	possibly damaging	Het
Nlrp4f	G	A	13: 65,190,871 (GRCm38)	R651*	probably null	Het
Olfr1480	A	G	19: 13,530,380 (GRCm38)	T280A	probably benign	Het
Olfr397	T	A	11: 73,964,710 (GRCm38)	M34K	probably damaging	Het
Olfr497	A	G	7: 108,422,618 (GRCm38)	I16V	probably benign	Het
P2rx7	A	T	5: 122,673,717 (GRCm38)	R364W	probably damaging	Het
Phc3	G	T	3: 30,965,866 (GRCm38)	S28R	probably damaging	Het
Ppfia1	A	T	7: 144,519,974 (GRCm38)		probably null	Het
Prdm10	C	T	9: 31,353,417 (GRCm38)	T667M	probably benign	Het
Pwwp2b	T	A	7: 139,255,971 (GRCm38)	S443T	possibly damaging	Het
Pzp	T	C	6: 128,490,072 (GRCm38)	T1113A	probably damaging	Het
Rapgef6	A	G	11: 54,636,136 (GRCm38)	E551G	possibly damaging	Het
Sec23ip	A	G	7: 128,776,784 (GRCm38)	Y774C	probably damaging	Het
Setdb2	T	C	14: 59,419,118 (GRCm38)	D266G	probably damaging	Het
Shank1	T	C	7: 44,352,886 (GRCm38)	V1343A	probably benign	Het
Slf2	T	A	19: 44,973,235 (GRCm38)	D1064E	probably benign	Het
Slu7	A	G	11: 43,443,418 (GRCm38)	K424E	probably benign	Het
Smg1	A	T	7: 118,154,664 (GRCm38)		probably benign	Het
Sptlc2	A	T	12: 87,346,761 (GRCm38)	L264Q	probably damaging	Het
Sra1	A	G	18: 36,678,407 (GRCm38)	S93P	probably damaging	Het
Sult1c1	T	C	17: 53,964,652 (GRCm38)	E169G	probably benign	Het
Sv2a	A	G	3: 96,185,572 (GRCm38)	D196G	probably damaging	Het
Tbc1d22b	A	G	17: 29,594,780 (GRCm38)	I362M	probably damaging	Het
Tenm3	T	C	8: 48,228,762 (GRCm38)	D2611G	probably damaging	Het
Tmem43	T	C	6: 91,480,708 (GRCm38)	F191L	probably benign	Het
Trbv13-2	T	A	6: 41,121,694 (GRCm38)	Y68N	probably benign	Het
Ttn	T	G	2: 76,774,654 (GRCm38)	D18312A	possibly damaging	Het
Ublcp1	A	G	11: 44,465,606 (GRCm38)	V95A	probably damaging	Het
Usp17ld	A	G	7: 103,250,840 (GRCm38)	V295A	probably damaging	Het
Vmn1r29	T	A	6: 58,308,167 (GRCm38)	L291M	possibly damaging	Het
Vsig10l	C	T	7: 43,464,151 (GRCm38)	R176*	probably null	Het
Zbtb46	A	G	2: 181,423,417 (GRCm38)		probably null	Het
Zfp644	A	G	5: 106,637,982 (GRCm38)	V233A	probably benign	Het

Other mutations in Phactr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Phactr2	APN	10	13,245,535 (GRCm38)	missense	probably damaging	1.00
IGL01844:Phactr2	APN	10	13,253,437 (GRCm38)	missense	probably benign	0.05
IGL01893:Phactr2	APN	10	13,247,188 (GRCm38)	missense	probably benign	0.38
IGL02458:Phactr2	APN	10	13,261,828 (GRCm38)	missense	probably damaging	1.00
IGL02612:Phactr2	APN	10	13,245,423 (GRCm38)	missense	probably damaging	0.99
IGL02620:Phactr2	APN	10	13,291,888 (GRCm38)	missense	probably damaging	1.00
IGL03064:Phactr2	APN	10	13,388,713 (GRCm38)	utr 5 prime	probably benign
IGL03493:Phactr2	APN	10	13,257,669 (GRCm38)	missense	probably benign	0.02
R0973:Phactr2	UTSW	10	13,247,139 (GRCm38)	missense	possibly damaging	0.88
R0973:Phactr2	UTSW	10	13,247,139 (GRCm38)	missense	possibly damaging	0.88
R0974:Phactr2	UTSW	10	13,247,139 (GRCm38)	missense	possibly damaging	0.88
R1480:Phactr2	UTSW	10	13,253,792 (GRCm38)	missense	possibly damaging	0.74
R3115:Phactr2	UTSW	10	13,261,901 (GRCm38)	nonsense	probably null
R3116:Phactr2	UTSW	10	13,261,901 (GRCm38)	nonsense	probably null
R3713:Phactr2	UTSW	10	13,388,732 (GRCm38)	start gained	probably benign
R4367:Phactr2	UTSW	10	13,253,820 (GRCm38)	missense	probably damaging	1.00
R4368:Phactr2	UTSW	10	13,253,820 (GRCm38)	missense	probably damaging	1.00
R4371:Phactr2	UTSW	10	13,253,820 (GRCm38)	missense	probably damaging	1.00
R5344:Phactr2	UTSW	10	13,253,616 (GRCm38)	missense	possibly damaging	0.76
R5491:Phactr2	UTSW	10	13,261,846 (GRCm38)	missense	possibly damaging	0.91
R5617:Phactr2	UTSW	10	13,474,065 (GRCm38)	missense	possibly damaging	0.60
R5895:Phactr2	UTSW	10	13,245,517 (GRCm38)	missense	probably damaging	1.00
R6051:Phactr2	UTSW	10	13,261,811 (GRCm38)	splice site	probably null	0.00
R6317:Phactr2	UTSW	10	13,261,882 (GRCm38)	missense	probably damaging	0.98
R7048:Phactr2	UTSW	10	13,245,424 (GRCm38)	missense	probably benign	0.28
R7101:Phactr2	UTSW	10	13,247,178 (GRCm38)	missense	probably benign	0.00
R7221:Phactr2	UTSW	10	13,247,039 (GRCm38)	missense	possibly damaging	0.58
R7868:Phactr2	UTSW	10	13,232,609 (GRCm38)	missense	probably damaging	1.00
R8408:Phactr2	UTSW	10	13,253,826 (GRCm38)	missense	probably damaging	1.00
R8865:Phactr2	UTSW	10	13,253,732 (GRCm38)	missense	probably benign	0.00
R9095:Phactr2	UTSW	10	13,253,642 (GRCm38)	missense	probably benign	0.26
R9443:Phactr2	UTSW	10	13,247,097 (GRCm38)	missense	probably benign	0.00
R9572:Phactr2	UTSW	10	13,388,817 (GRCm38)	unclassified	probably benign
R9695:Phactr2	UTSW	10	13,474,164 (GRCm38)	missense	unknown
RF023:Phactr2	UTSW	10	13,245,434 (GRCm38)	missense	probably benign	0.10
X0026:Phactr2	UTSW	10	13,257,634 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGGAGTCAATGCATCATCAGG -3'
(R):5'- CACTTGATAGGCGCACTCTC -3'

Sequencing Primer
(F):5'- GGGTTAATATACTGCATGCTTCCCAG -3'
(R):5'- GATAGGCGCACTCTCTTAATCAG -3'

Posted On

2016-11-09