Mutagenetix > Incidental Mutation

Incidental Mutation 'R7144:Phactr3'

553609

Institutional Source

Beutler Lab

Gene Symbol

Phactr3

Ensembl Gene

ENSMUSG00000027525

Gene Name

phosphatase and actin regulator 3

Synonyms

4930415A02Rik, 1500003N10Rik, scapinin

MMRRC Submission

045328-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R7144 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

178118975-178338492 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 178302736 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 409 (N409S)

Ref Sequence

ENSEMBL: ENSMUSP00000104543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103065] [ENSMUST00000103066] [ENSMUST00000108915] [ENSMUST00000108916] [ENSMUST00000108917]

AlphaFold

Q8BYK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000103065
AA Change: N368S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099354
Gene: ENSMUSG00000027525
AA Change: N368S

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
RPEL	52	77	2.08e0	SMART
low complexity region	187	206	N/A	INTRINSIC
RPEL	360	385	5.1e-4	SMART
low complexity region	387	397	N/A	INTRINSIC
RPEL	398	423	3.24e-6	SMART
RPEL	436	461	9.82e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000103066
AA Change: N408S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099355
Gene: ENSMUSG00000027525
AA Change: N408S

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC
low complexity region	75	88	N/A	INTRINSIC
RPEL	92	117	2.08e0	SMART
low complexity region	227	246	N/A	INTRINSIC
RPEL	400	425	5.1e-4	SMART
low complexity region	427	437	N/A	INTRINSIC
RPEL	438	463	3.24e-6	SMART
RPEL	476	501	9.82e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108915
AA Change: N409S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104543
Gene: ENSMUSG00000027525
AA Change: N409S

Domain	Start	End	E-Value	Type
low complexity region	76	89	N/A	INTRINSIC
RPEL	93	118	2.08e0	SMART
low complexity region	228	247	N/A	INTRINSIC
RPEL	401	426	5.1e-4	SMART
low complexity region	428	438	N/A	INTRINSIC
RPEL	439	464	3.24e-6	SMART
RPEL	477	502	9.82e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108916
AA Change: N404S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104544
Gene: ENSMUSG00000027525
AA Change: N404S

Domain	Start	End	E-Value	Type
low complexity region	71	84	N/A	INTRINSIC
RPEL	88	113	2.08e0	SMART
low complexity region	223	242	N/A	INTRINSIC
RPEL	396	421	5.1e-4	SMART
low complexity region	423	433	N/A	INTRINSIC
RPEL	434	459	3.24e-6	SMART
RPEL	472	497	9.82e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108917
AA Change: N404S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104545
Gene: ENSMUSG00000027525
AA Change: N404S

Domain	Start	End	E-Value	Type
low complexity region	71	84	N/A	INTRINSIC
RPEL	88	113	2.08e0	SMART
low complexity region	223	242	N/A	INTRINSIC
RPEL	396	421	5.1e-4	SMART
low complexity region	423	433	N/A	INTRINSIC
RPEL	436	458	2.74e-4	SMART
RPEL	471	496	9.82e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (95/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,433,573	I272F	possibly damaging	Het
Adcy10	G	T	1: 165,510,370	M184I	probably benign	Het
Aldoa	G	T	7: 126,796,862	T124N	possibly damaging	Het
Ap4e1	T	A	2: 127,011,807	I55N	probably damaging	Het
Arhgap21	T	C	2: 20,865,387	T913A	probably benign	Het
Atrnl1	G	A	19: 58,042,352	E1309K	probably damaging	Het
BC034090	A	T	1: 155,242,031	C114S	probably damaging	Het
Brinp2	A	G	1: 158,295,424		probably null	Het
Ccna1	G	T	3: 55,045,699	H408Q	probably benign	Het
Cd209g	T	G	8: 4,135,189		probably benign	Het
Cdc20b	A	G	13: 113,083,371	I433V	probably benign	Het
Cdk2ap1	G	A	5: 124,354,358	P5L	probably damaging	Het
Cep128	T	C	12: 91,294,159	E310G	probably damaging	Het
Cflar	G	T	1: 58,753,848	V458F		Het
Clec4b2	A	G	6: 123,181,384	T70A	probably benign	Het
Cntnap5c	A	G	17: 58,286,888	T741A	probably benign	Het
Csf3r	A	T	4: 126,043,722	T800S	probably benign	Het
Csnk1g2	T	C	10: 80,637,899	Y67H	probably damaging	Het
Cyp2c67	A	T	19: 39,615,694	V406E	probably benign	Het
Dnah10	A	G	5: 124,822,942	D3868G	probably damaging	Het
Dnah7a	A	T	1: 53,698,708		probably null	Het
Dst	A	G	1: 34,152,243	N208S	probably damaging	Het
Echdc3	A	G	2: 6,206,413		probably null	Het
Edrf1	T	C	7: 133,637,849	S13P	probably benign	Het
Ephb1	T	C	9: 101,964,077	Y734C	probably damaging	Het
Eps8l1	A	G	7: 4,472,185	Y325C	probably damaging	Het
Evc2	A	G	5: 37,386,839	D644G	probably damaging	Het
Eya4	A	C	10: 23,173,045	D54E	probably benign	Het
Filip1	T	C	9: 79,820,213	S375G	possibly damaging	Het
Fmo9	A	G	1: 166,677,620	M68T	probably benign	Het
Gemin5	G	C	11: 58,141,663	P772A	probably benign	Het
Gle1	T	G	2: 29,943,793	C401G	probably damaging	Het
Gm14548	A	G	7: 3,897,616	V45A	probably damaging	Het
Gm7298	A	T	6: 121,761,587	I376F	probably damaging	Het
Gpr35	A	C	1: 92,982,631	I22L	probably benign	Het
Grin2b	T	G	6: 135,733,476	D1024A	possibly damaging	Het
Hmcn1	T	C	1: 150,663,873	N2956D	probably damaging	Het
Htt	T	C	5: 34,846,006	L1275P	probably damaging	Het
Ibtk	T	C	9: 85,743,691	D2G	probably benign	Het
Il16	T	A	7: 83,646,451	D1170V	probably damaging	Het
Iqgap3	T	A	3: 88,116,910	I1513N	probably damaging	Het
Kiz	T	G	2: 146,950,510		probably null	Het
Krt12	A	T	11: 99,416,013	*488K	probably null	Het
Lap3	A	T	5: 45,496,948	T83S	probably benign	Het
Lars2	T	A	9: 123,431,993	S410T	probably damaging	Het
Limch1	A	G	5: 67,017,658	T518A	probably benign	Het
Lrrc49	A	T	9: 60,615,156	S381T	probably damaging	Het
Lrrk2	A	G	15: 91,734,055	D919G	possibly damaging	Het
Mmp1a	A	T	9: 7,475,318	S363C	probably damaging	Het
Mrps22	A	C	9: 98,601,471		probably null	Het
Mybpc3	T	C	2: 91,134,604	I1066T	probably benign	Het
Myo10	A	T	15: 25,723,925	N215I	probably damaging	Het
Myocd	A	C	11: 65,218,648	L99R	probably damaging	Het
Nadk	T	G	4: 155,589,336	I394S	probably damaging	Het
Nadsyn1	T	C	7: 143,811,215	N251S	probably damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Ncapd2	G	A	6: 125,176,670	P694L	probably benign	Het
Olfr1101	G	T	2: 86,988,820	R119S	probably damaging	Het
Olfr1243	T	C	2: 89,527,557	I284M	probably damaging	Het
Olfr317	A	C	11: 58,732,745	L140R	probably damaging	Het
Olfr705	T	A	7: 106,873,868	I126F	probably damaging	Het
Pcdhb13	T	A	18: 37,443,256	I229K	probably damaging	Het
Pgbd5	A	T	8: 124,374,317	M400K	possibly damaging	Het
Pik3c2g	C	A	6: 139,629,870	P305Q	probably damaging	Het
Pik3r4	G	A	9: 105,650,584	V379M	probably damaging	Het
Pkd1l2	A	T	8: 117,076,131	C250*	probably null	Het
Pramef17	A	C	4: 143,991,533	S447A	probably benign	Het
Rapgef6	A	C	11: 54,657,365	T792P	possibly damaging	Het
Rexo5	A	G	7: 119,805,191	D170G	probably damaging	Het
Rnf17	G	A	14: 56,512,332		probably null	Het
Sept11	A	G	5: 93,156,866	I181V	probably benign	Het
Serpina1e	T	G	12: 103,947,018	*414C	probably null	Het
Serpine1	C	A	5: 137,071,064	Q80H	probably damaging	Het
Sh3bp2	A	G	5: 34,561,631	N560S	probably benign	Het
Slc25a25	A	G	2: 32,419,166	F221S	probably damaging	Het
Spag17	G	T	3: 100,027,401		probably null	Het
Sspn	T	C	6: 145,961,155	L104P	probably damaging	Het
St18	A	C	1: 6,833,594	E693A	probably damaging	Het
St6galnac3	T	C	3: 153,411,532	I185V	possibly damaging	Het
St8sia1	T	C	6: 142,876,669	D156G	probably damaging	Het
Syne2	C	A	12: 76,005,378	S4092R	probably benign	Het
Tll1	T	A	8: 64,124,945	D76V	possibly damaging	Het
Tmco1	C	T	1: 167,308,453		probably benign	Het
Tnfaip3	T	A	10: 19,007,281	T179S	probably benign	Het
Trav16	T	C	14: 53,743,639	I95T	possibly damaging	Het
Trip12	A	T	1: 84,793,714	S280T	probably damaging	Het
Unc79	A	G	12: 103,142,626	M2166V	probably benign	Het
Vmn2r1	A	G	3: 64,089,941	I339M	probably damaging	Het
Vwa5b1	A	G	4: 138,605,431		probably null	Het
Washc4	A	T	10: 83,573,774		probably null	Het
Wisp1	T	A	15: 66,913,030	V184E	probably damaging	Het
Wiz	A	G	17: 32,357,628	S642P	possibly damaging	Het
Zeb2	T	A	2: 45,110,041	K60N	possibly damaging	Het
Zfat	T	A	15: 68,178,782	T797S	probably benign	Het
Zfp74	T	C	7: 29,935,165	K373E	probably damaging	Het
Zswim5	T	C	4: 116,975,976		probably null	Het

Other mutations in Phactr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Phactr3	APN	2	178279062	missense	probably benign	0.00
IGL01432:Phactr3	APN	2	178283100	missense	probably benign	0.05
IGL01580:Phactr3	APN	2	178269504	splice site	probably benign
IGL02688:Phactr3	APN	2	178278999	missense	probably damaging	0.96
IGL02985:Phactr3	APN	2	178175457	missense	probably benign
PIT4151001:Phactr3	UTSW	2	178334068	missense	probably damaging	1.00
R1854:Phactr3	UTSW	2	178283147	missense	probably damaging	1.00
R2132:Phactr3	UTSW	2	178283966	missense	probably benign	0.14
R3110:Phactr3	UTSW	2	178279017	missense	possibly damaging	0.85
R3112:Phactr3	UTSW	2	178279017	missense	possibly damaging	0.85
R3122:Phactr3	UTSW	2	178331618	missense	probably damaging	1.00
R4193:Phactr3	UTSW	2	178283152	missense	probably damaging	0.98
R4194:Phactr3	UTSW	2	178283109	missense	possibly damaging	0.80
R4243:Phactr3	UTSW	2	178283189	splice site	probably null
R4245:Phactr3	UTSW	2	178283189	splice site	probably null
R4397:Phactr3	UTSW	2	178175406	intron	probably benign
R4433:Phactr3	UTSW	2	178283132	missense	probably damaging	1.00
R4581:Phactr3	UTSW	2	178283172	missense	probably damaging	1.00
R4772:Phactr3	UTSW	2	178283936	missense	probably damaging	1.00
R4830:Phactr3	UTSW	2	178284018	missense	probably damaging	0.98
R5045:Phactr3	UTSW	2	178331619	missense	probably damaging	1.00
R5442:Phactr3	UTSW	2	178142461	missense	probably benign	0.38
R5461:Phactr3	UTSW	2	178278901	missense	probably benign
R5816:Phactr3	UTSW	2	178302793	missense	probably damaging	1.00
R6276:Phactr3	UTSW	2	178279019	missense	probably damaging	0.99
R6668:Phactr3	UTSW	2	178332864	missense	probably damaging	1.00
R7340:Phactr3	UTSW	2	178334061	missense	probably damaging	1.00
R7798:Phactr3	UTSW	2	178283910	missense	probably benign	0.19
R8009:Phactr3	UTSW	2	178332944	missense	probably damaging	1.00
R8074:Phactr3	UTSW	2	178302796	missense	probably damaging	1.00
R8348:Phactr3	UTSW	2	178256142	missense	probably benign	0.03
R8530:Phactr3	UTSW	2	178284026	missense	probably damaging	1.00
R9077:Phactr3	UTSW	2	178332965	splice site	probably benign
R9153:Phactr3	UTSW	2	178283946	missense	possibly damaging	0.79
R9406:Phactr3	UTSW	2	178284063	missense	probably damaging	0.99
R9676:Phactr3	UTSW	2	178284044	nonsense	probably null
R9721:Phactr3	UTSW	2	178256250	missense	probably damaging	1.00
R9722:Phactr3	UTSW	2	178256250	missense	probably damaging	1.00
R9776:Phactr3	UTSW	2	178334103	missense	probably damaging	1.00
R9778:Phactr3	UTSW	2	178283012	missense	possibly damaging	0.73
Z1176:Phactr3	UTSW	2	178269374	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AAACAGCCCCATGTAGCATGTG -3'
(R):5'- TGAGTGACCTGCTGCAGATC -3'

Sequencing Primer
(F):5'- CCCATGTAGCATGTGTGGGTTG -3'
(R):5'- CTATGAGCCCTGTGTGACACTG -3'

Posted On

2019-05-15