Mutagenetix > Incidental Mutation

Incidental Mutation 'R7048:Phactr2'

547446

Institutional Source

Beutler Lab

Gene Symbol

Phactr2

Ensembl Gene

ENSMUSG00000062866

Gene Name

phosphatase and actin regulator 2

Synonyms

MMRRC Submission

045146-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13083461-13350156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13121168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 444 (T444S)

Ref Sequence

ENSEMBL: ENSMUSP00000101182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079698] [ENSMUST00000105543] [ENSMUST00000105545] [ENSMUST00000105546]

AlphaFold

B1AVP0

Predicted Effect

SMART Domains

Protein: ENSMUSP00000078637
Gene: ENSMUSG00000062866
AA Change: T437S

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: ENSMUST00000105543
AA Change: T444S

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101182
Gene: ENSMUSG00000062866
AA Change: T444S

Domain	Start	End	E-Value	Type
low complexity region	50	65	N/A	INTRINSIC
RPEL	71	96	7.44e-6	SMART
low complexity region	165	190	N/A	INTRINSIC
low complexity region	219	229	N/A	INTRINSIC
low complexity region	261	281	N/A	INTRINSIC
low complexity region	389	399	N/A	INTRINSIC
RPEL	414	439	5.81e-8	SMART
RPEL	452	477	1.36e-8	SMART
RPEL	490	515	1.64e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105545
AA Change: T507S

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101184
Gene: ENSMUSG00000062866
AA Change: T507S

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: T513S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000101185
Gene: ENSMUSG00000062866
AA Change: T513S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,552,565 (GRCm39)	D629G	probably damaging	Het
Akap11	T	A	14: 78,749,954 (GRCm39)	Q811L		Het
Ank2	T	A	3: 126,819,267 (GRCm39)	Q468L	probably benign	Het
Ano3	A	T	2: 110,513,116 (GRCm39)	Y626*	probably null	Het
Ap1m1	A	G	8: 73,003,642 (GRCm39)	N114S	probably damaging	Het
Asb3	T	A	11: 31,051,121 (GRCm39)	I525N	probably damaging	Het
Atg4a-ps	A	G	3: 103,552,672 (GRCm39)	I223T	probably damaging	Het
B3gnt7	T	C	1: 86,233,308 (GRCm39)	Y68H	probably benign	Het
Bbs5	T	C	2: 69,484,705 (GRCm39)	I125T	probably benign	Het
Cd180	A	G	13: 102,841,431 (GRCm39)	N159S	probably damaging	Het
Cd37	T	C	7: 44,887,888 (GRCm39)		probably benign	Het
Cdk14	T	A	5: 5,143,005 (GRCm39)	Q242L	probably damaging	Het
Clcn1	T	C	6: 42,284,477 (GRCm39)	V605A	probably damaging	Het
Cped1	G	A	6: 22,119,469 (GRCm39)	M309I	probably benign	Het
Cyp2r1	A	T	7: 114,151,971 (GRCm39)	Y120N	probably damaging	Het
Ddx3y	A	T	Y: 1,279,491 (GRCm39)	S124R	probably benign	Het
Dlec1	A	T	9: 118,972,472 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,936,944 (GRCm39)	E3420G	possibly damaging	Het
Dnajc13	C	T	9: 104,080,613 (GRCm39)		probably null	Het
Dusp23	A	T	1: 172,459,253 (GRCm39)	Y136*	probably null	Het
Eif4b	A	G	15: 102,001,571 (GRCm39)		probably benign	Het
F13a1	A	G	13: 37,082,117 (GRCm39)	V529A	probably benign	Het
Fhl2	A	G	1: 43,162,808 (GRCm39)	Y236H	probably damaging	Het
Gm826	C	T	2: 160,169,026 (GRCm39)	W94*	probably null	Het
Gpsm2	C	T	3: 108,610,361 (GRCm39)	R33H	probably damaging	Het
Hmcn1	T	C	1: 150,475,404 (GRCm39)		probably null	Het
Ifit1bl2	T	C	19: 34,596,551 (GRCm39)	D355G	probably benign	Het
Itga8	A	G	2: 12,115,895 (GRCm39)	V77A	probably damaging	Het
Kcmf1	C	T	6: 72,826,450 (GRCm39)	R40K	probably damaging	Het
Kdm7a	T	C	6: 39,145,982 (GRCm39)	E315G	probably damaging	Het
Kmt2b	C	T	7: 30,268,731 (GRCm39)	G2666D	probably damaging	Het
Lrrtm1	A	G	6: 77,221,152 (GRCm39)	N203S	probably damaging	Het
Mdn1	A	G	4: 32,767,969 (GRCm39)	N5301D	probably benign	Het
Mest	T	G	6: 30,742,723 (GRCm39)	H108Q	probably damaging	Het
Mettl25b	A	G	3: 87,837,167 (GRCm39)	I36T	probably damaging	Het
Moxd1	C	A	10: 24,157,374 (GRCm39)	D335E	probably damaging	Het
Ncf2	A	C	1: 152,683,921 (GRCm39)	N47H	probably benign	Het
Npc1	A	G	18: 12,337,822 (GRCm39)		probably null	Het
Or14j2	A	T	17: 37,886,114 (GRCm39)	S67T	probably damaging	Het
Pcid2	A	G	8: 13,128,243 (GRCm39)	V386A	probably benign	Het
Plekha7	T	C	7: 115,747,559 (GRCm39)	N710D	probably benign	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Pramel15	T	C	4: 144,103,754 (GRCm39)	D124G	probably benign	Het
Ptprz1	A	T	6: 22,961,622 (GRCm39)	Y111F	probably benign	Het
Rbbp8	A	G	18: 11,865,277 (GRCm39)	E722G	possibly damaging	Het
Rimbp3	A	G	16: 17,028,190 (GRCm39)	D538G	probably benign	Het
Rims1	A	G	1: 22,511,901 (GRCm39)	S551P	probably damaging	Het
Rsrc1	A	G	3: 67,088,164 (GRCm39)	D166G	probably damaging	Het
Selenon	T	C	4: 134,270,154 (GRCm39)	N350S	probably benign	Het
Sh3gl2	T	A	4: 85,295,802 (GRCm39)	L168H	probably damaging	Het
Smc3	T	C	19: 53,617,682 (GRCm39)	Y560H	probably benign	Het
Syce1	C	T	7: 140,359,281 (GRCm39)	D147N	possibly damaging	Het
Syt10	A	C	15: 89,675,008 (GRCm39)	V446G	probably damaging	Het
Taar1	T	C	10: 23,796,722 (GRCm39)	L140P	probably benign	Het
Tfpi2	C	A	6: 3,968,032 (GRCm39)	C36F	probably damaging	Het
Thoc5	G	A	11: 4,876,237 (GRCm39)		probably null	Het
Tnrc6c	T	A	11: 117,612,800 (GRCm39)	N319K	probably benign	Het
Trhr2	C	T	8: 123,085,418 (GRCm39)	D189N	probably damaging	Het
Trim42	A	T	9: 97,245,474 (GRCm39)	F442Y	probably damaging	Het
Ubap2	G	A	4: 41,196,033 (GRCm39)	T949I	possibly damaging	Het
Ugt1a8	T	C	1: 88,016,024 (GRCm39)	F146L	probably benign	Het
Vmn2r80	C	A	10: 79,030,153 (GRCm39)	Q660K	probably damaging	Het
Vstm2b	C	T	7: 40,578,800 (GRCm39)	T258I	possibly damaging	Het
Washc2	T	C	6: 116,197,544 (GRCm39)	L259P	possibly damaging	Het
Zscan18	A	T	7: 12,508,671 (GRCm39)		probably benign	Het
Zzef1	T	G	11: 72,757,525 (GRCm39)	Y1193*	probably null	Het

Other mutations in Phactr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Phactr2	APN	10	13,121,279 (GRCm39)	missense	probably damaging	1.00
IGL01844:Phactr2	APN	10	13,129,181 (GRCm39)	missense	probably benign	0.05
IGL01893:Phactr2	APN	10	13,122,932 (GRCm39)	missense	probably benign	0.38
IGL02458:Phactr2	APN	10	13,137,572 (GRCm39)	missense	probably damaging	1.00
IGL02612:Phactr2	APN	10	13,121,167 (GRCm39)	missense	probably damaging	0.99
IGL02620:Phactr2	APN	10	13,167,632 (GRCm39)	missense	probably damaging	1.00
IGL03064:Phactr2	APN	10	13,264,457 (GRCm39)	utr 5 prime	probably benign
IGL03493:Phactr2	APN	10	13,133,413 (GRCm39)	missense	probably benign	0.02
R0973:Phactr2	UTSW	10	13,122,883 (GRCm39)	missense	possibly damaging	0.88
R0973:Phactr2	UTSW	10	13,122,883 (GRCm39)	missense	possibly damaging	0.88
R0974:Phactr2	UTSW	10	13,122,883 (GRCm39)	missense	possibly damaging	0.88
R1480:Phactr2	UTSW	10	13,129,536 (GRCm39)	missense	possibly damaging	0.74
R3115:Phactr2	UTSW	10	13,137,645 (GRCm39)	nonsense	probably null
R3116:Phactr2	UTSW	10	13,137,645 (GRCm39)	nonsense	probably null
R3713:Phactr2	UTSW	10	13,264,476 (GRCm39)	start gained	probably benign
R4367:Phactr2	UTSW	10	13,129,564 (GRCm39)	missense	probably damaging	1.00
R4368:Phactr2	UTSW	10	13,129,564 (GRCm39)	missense	probably damaging	1.00
R4371:Phactr2	UTSW	10	13,129,564 (GRCm39)	missense	probably damaging	1.00
R5344:Phactr2	UTSW	10	13,129,360 (GRCm39)	missense	possibly damaging	0.76
R5491:Phactr2	UTSW	10	13,137,590 (GRCm39)	missense	possibly damaging	0.91
R5617:Phactr2	UTSW	10	13,349,809 (GRCm39)	missense	possibly damaging	0.60
R5656:Phactr2	UTSW	10	13,264,447 (GRCm39)	missense	probably benign	0.34
R5895:Phactr2	UTSW	10	13,121,261 (GRCm39)	missense	probably damaging	1.00
R6051:Phactr2	UTSW	10	13,137,555 (GRCm39)	splice site	probably null	0.00
R6317:Phactr2	UTSW	10	13,137,626 (GRCm39)	missense	probably damaging	0.98
R7101:Phactr2	UTSW	10	13,122,922 (GRCm39)	missense	probably benign	0.00
R7221:Phactr2	UTSW	10	13,122,783 (GRCm39)	missense	possibly damaging	0.58
R7868:Phactr2	UTSW	10	13,108,353 (GRCm39)	missense	probably damaging	1.00
R8408:Phactr2	UTSW	10	13,129,570 (GRCm39)	missense	probably damaging	1.00
R8865:Phactr2	UTSW	10	13,129,476 (GRCm39)	missense	probably benign	0.00
R9095:Phactr2	UTSW	10	13,129,386 (GRCm39)	missense	probably benign	0.26
R9443:Phactr2	UTSW	10	13,122,841 (GRCm39)	missense	probably benign	0.00
R9572:Phactr2	UTSW	10	13,264,561 (GRCm39)	unclassified	probably benign
R9695:Phactr2	UTSW	10	13,349,908 (GRCm39)	missense	unknown
RF023:Phactr2	UTSW	10	13,121,178 (GRCm39)	missense	probably benign	0.10
X0026:Phactr2	UTSW	10	13,133,378 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGAGCTCTTAAAGGTACTGAAC -3'
(R):5'- CCTGTTCAAGTCCAGCCATG -3'

Sequencing Primer
(F):5'- GCTCTTAAAGGTACTGAACAACTGAC -3'
(R):5'- GCCCTGCTAAGGTTAACACTG -3'

Posted On

2019-05-13