Mutagenetix > Incidental Mutation

Incidental Mutation 'R2055:Phactr1'

226619

Institutional Source

Beutler Lab

Gene Symbol

Phactr1

Ensembl Gene

ENSMUSG00000054728

Gene Name

phosphatase and actin regulator 1

Synonyms

Rpel1, 9630030F18Rik

MMRRC Submission

040060-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2055 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

42834099-43292002 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43231416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 386 (N386S)

Ref Sequence

ENSEMBL: ENSMUSP00000105790 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066928] [ENSMUST00000110161] [ENSMUST00000128646] [ENSMUST00000131942] [ENSMUST00000148891] [ENSMUST00000149235]

AlphaFold

Q2M3X8

Predicted Effect

probably damaging
Transcript: ENSMUST00000066928
AA Change: N310S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000066663
Gene: ENSMUSG00000054728
AA Change: N310S

Domain	Start	End	E-Value	Type
low complexity region	4	42	N/A	INTRINSIC
low complexity region	43	61	N/A	INTRINSIC
low complexity region	113	127	N/A	INTRINSIC
RPEL	131	156	7.33e-5	SMART
low complexity region	170	188	N/A	INTRINSIC
low complexity region	219	239	N/A	INTRINSIC
low complexity region	252	269	N/A	INTRINSIC
low complexity region	330	341	N/A	INTRINSIC
low complexity region	388	399	N/A	INTRINSIC
RPEL	415	440	1.23e-6	SMART
RPEL	453	478	5.14e-9	SMART
RPEL	491	516	2.71e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110161
AA Change: N386S

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

SMART Domains

Protein: ENSMUSP00000105790
Gene: ENSMUSG00000054728
AA Change: N386S

Domain	Start	End	E-Value	Type
low complexity region	35	49	N/A	INTRINSIC
low complexity region	50	68	N/A	INTRINSIC
low complexity region	120	134	N/A	INTRINSIC
RPEL	138	163	7.33e-5	SMART
low complexity region	177	195	N/A	INTRINSIC
low complexity region	223	232	N/A	INTRINSIC
low complexity region	295	315	N/A	INTRINSIC
low complexity region	328	345	N/A	INTRINSIC
low complexity region	406	417	N/A	INTRINSIC
low complexity region	464	475	N/A	INTRINSIC
RPEL	491	516	1.23e-6	SMART
RPEL	529	554	5.14e-9	SMART
RPEL	567	592	2.71e-8	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000128646
AA Change: N317S

SMART Domains

Protein: ENSMUSP00000122232
Gene: ENSMUSG00000054728
AA Change: N317S

Domain	Start	End	E-Value	Type
low complexity region	35	49	N/A	INTRINSIC
low complexity region	50	68	N/A	INTRINSIC
low complexity region	120	134	N/A	INTRINSIC
RPEL	138	163	7.33e-5	SMART
low complexity region	177	195	N/A	INTRINSIC
low complexity region	226	246	N/A	INTRINSIC
low complexity region	259	276	N/A	INTRINSIC
low complexity region	337	348	N/A	INTRINSIC
low complexity region	395	406	N/A	INTRINSIC
RPEL	422	447	1.23e-6	SMART
RPEL	460	485	5.14e-9	SMART
RPEL	498	523	2.71e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000131942
AA Change: N294S

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

SMART Domains

Protein: ENSMUSP00000123346
Gene: ENSMUSG00000054728
AA Change: N294S

Domain	Start	End	E-Value	Type
low complexity region	28	42	N/A	INTRINSIC
RPEL	46	71	7.33e-5	SMART
low complexity region	85	103	N/A	INTRINSIC
low complexity region	131	140	N/A	INTRINSIC
low complexity region	203	223	N/A	INTRINSIC
low complexity region	236	253	N/A	INTRINSIC
low complexity region	314	325	N/A	INTRINSIC
low complexity region	372	383	N/A	INTRINSIC
RPEL	399	424	1.23e-6	SMART
RPEL	437	462	5.14e-9	SMART
RPEL	475	500	2.71e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000148891
AA Change: N379S

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

SMART Domains

Protein: ENSMUSP00000115228
Gene: ENSMUSG00000054728
AA Change: N379S

Domain	Start	End	E-Value	Type
low complexity region	4	42	N/A	INTRINSIC
low complexity region	43	61	N/A	INTRINSIC
low complexity region	113	127	N/A	INTRINSIC
RPEL	131	156	7.33e-5	SMART
low complexity region	170	188	N/A	INTRINSIC
low complexity region	216	225	N/A	INTRINSIC
low complexity region	288	308	N/A	INTRINSIC
low complexity region	321	338	N/A	INTRINSIC
low complexity region	399	410	N/A	INTRINSIC
low complexity region	457	468	N/A	INTRINSIC
RPEL	484	509	1.23e-6	SMART
RPEL	522	547	5.14e-9	SMART
RPEL	560	585	2.71e-8	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000149235
AA Change: N317S

SMART Domains

Protein: ENSMUSP00000115207
Gene: ENSMUSG00000054728
AA Change: N317S

Domain	Start	End	E-Value	Type
low complexity region	35	49	N/A	INTRINSIC
low complexity region	50	68	N/A	INTRINSIC
low complexity region	120	134	N/A	INTRINSIC
RPEL	138	163	7.33e-5	SMART
low complexity region	177	195	N/A	INTRINSIC
low complexity region	226	246	N/A	INTRINSIC
low complexity region	259	276	N/A	INTRINSIC
low complexity region	337	348	N/A	INTRINSIC
low complexity region	395	406	N/A	INTRINSIC
RPEL	422	447	1.23e-6	SMART
RPEL	460	485	5.14e-9	SMART
RPEL	498	523	2.71e-8	SMART

Meta Mutation Damage Score

0.1645

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the phosphatase and actin regulator family of proteins. This family member can bind actin and regulate the reorganization of the actin cytoskeleton. It plays a role in tubule formation and in endothelial cell survival. Polymorphisms in this gene are associated with susceptibility to myocardial infarction, coronary artery disease and cervical artery dissection. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,107 (GRCm39)	E185G	probably damaging	Het
3425401B19Rik	A	G	14: 32,384,508 (GRCm39)	S486P	probably benign	Het
A630023A22Rik	T	C	14: 33,774,707 (GRCm39)		probably benign	Het
Abca1	T	C	4: 53,069,881 (GRCm39)	N1271S	probably benign	Het
AI597479	C	T	1: 43,150,280 (GRCm39)	A130V	probably benign	Het
Angptl4	A	G	17: 33,999,498 (GRCm39)		probably null	Het
Arhgef25	T	A	10: 127,021,004 (GRCm39)	N294I	probably damaging	Het
Atp2b1	T	C	10: 98,850,421 (GRCm39)	V848A	probably damaging	Het
Bard1	T	C	1: 71,114,031 (GRCm39)	T317A	probably benign	Het
C1rl	T	C	6: 124,470,781 (GRCm39)	W30R	probably benign	Het
Cchcr1	A	G	17: 35,837,317 (GRCm39)	E379G	probably damaging	Het
Cfap36	G	T	11: 29,197,122 (GRCm39)	A3E	probably damaging	Het
Cilp	G	A	9: 65,186,997 (GRCm39)	G1031S	probably damaging	Het
Clca4a	A	G	3: 144,676,489 (GRCm39)	Y64H	probably damaging	Het
Cops5	A	G	1: 10,102,562 (GRCm39)		probably null	Het
Cracr2a	G	T	6: 127,585,564 (GRCm39)	E121*	probably null	Het
Cstf1	A	G	2: 172,222,403 (GRCm39)	E387G	probably benign	Het
D630044L22Rik	A	C	17: 26,180,951 (GRCm39)	D733E	probably damaging	Het
Dlc1	A	T	8: 37,060,535 (GRCm39)	C514S	probably damaging	Het
Dmwd	G	T	7: 18,810,610 (GRCm39)	R139L	probably benign	Het
Dnah17	A	T	11: 117,958,357 (GRCm39)	S2709T	probably benign	Het
Dnmt3a	T	C	12: 3,922,859 (GRCm39)	I154T	probably benign	Het
Dpp7	T	C	2: 25,244,490 (GRCm39)	N297S	possibly damaging	Het
Ern2	A	T	7: 121,783,168 (GRCm39)	V34D	possibly damaging	Het
Erp27	A	G	6: 136,885,227 (GRCm39)		probably benign	Het
F2	T	C	2: 91,458,787 (GRCm39)	T508A	probably benign	Het
Fam181b	A	G	7: 92,729,634 (GRCm39)	T136A	probably benign	Het
Fam227b	C	A	2: 125,942,874 (GRCm39)	V308L	probably benign	Het
Fbxw20	A	T	9: 109,050,442 (GRCm39)	H394Q	probably damaging	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Glt8d1	T	G	14: 30,731,693 (GRCm39)	S111A	probably benign	Het
Gm11146	A	T	16: 77,391,969 (GRCm39)		probably benign	Het
Grip1	C	T	10: 119,885,416 (GRCm39)		probably benign	Het
H2-Q2	A	T	17: 35,564,247 (GRCm39)	T334S	probably benign	Het
Hcrtr1	A	G	4: 130,024,680 (GRCm39)	V402A	probably benign	Het
Hmcn2	C	A	2: 31,268,294 (GRCm39)	A1130D	probably benign	Het
Hsd17b2	T	C	8: 118,428,913 (GRCm39)	L60P	possibly damaging	Het
Htr1f	A	T	16: 64,746,398 (GRCm39)	I298N	probably damaging	Het
Ighmbp2	G	T	19: 3,315,095 (GRCm39)	A775D	probably benign	Het
Kcnn3	A	G	3: 89,428,682 (GRCm39)	T303A	probably damaging	Het
Kiz	C	A	2: 146,733,203 (GRCm39)	Q460K	probably benign	Het
Krt75	C	T	15: 101,481,196 (GRCm39)	V193I	probably benign	Het
Lsp1	G	A	7: 142,043,144 (GRCm39)		probably null	Het
Mfsd12	A	G	10: 81,196,063 (GRCm39)	H146R	probably damaging	Het
Mmp23	T	C	4: 155,736,444 (GRCm39)	K199R	possibly damaging	Het
Naip2	A	G	13: 100,315,880 (GRCm39)	V300A	probably benign	Het
Nbeal1	C	T	1: 60,350,216 (GRCm39)	L2422F	probably damaging	Het
Nbeal2	G	T	9: 110,464,375 (GRCm39)	D1094E	possibly damaging	Het
Nckap5	T	C	1: 125,954,635 (GRCm39)	E639G	probably damaging	Het
Nr4a3	A	G	4: 48,067,771 (GRCm39)	I456V	possibly damaging	Het
Or2t43	A	G	11: 58,457,673 (GRCm39)	F166S	probably damaging	Het
Parp9	G	T	16: 35,773,984 (GRCm39)	V86L	probably damaging	Het
Pold2	A	T	11: 5,823,516 (GRCm39)	Y304*	probably null	Het
Pou5f2	A	G	13: 78,173,940 (GRCm39)	Y294C	probably benign	Het
Rars1	A	G	11: 35,717,410 (GRCm39)		probably benign	Het
Rbm12b1	A	G	4: 12,145,606 (GRCm39)	E526G	probably benign	Het
Sacs	T	C	14: 61,451,498 (GRCm39)	Y4515H	probably damaging	Het
Sdk2	C	A	11: 113,741,780 (GRCm39)	R813L	probably damaging	Het
Six5	T	C	7: 18,829,154 (GRCm39)	V198A	possibly damaging	Het
Slco1a7	A	T	6: 141,671,181 (GRCm39)	H430Q	probably benign	Het
Spata31e2	A	T	1: 26,724,813 (GRCm39)	N122K	possibly damaging	Het
Spn	A	G	7: 126,736,388 (GRCm39)	S40P	probably damaging	Het
Ssr1	A	G	13: 38,171,761 (GRCm39)		probably benign	Het
Tlr6	C	A	5: 65,111,269 (GRCm39)	C546F	probably damaging	Het
Top1	T	A	2: 160,544,748 (GRCm39)		probably benign	Het
Trhr2	A	G	8: 123,085,532 (GRCm39)	S151P	probably damaging	Het
Tubb2b	T	G	13: 34,311,708 (GRCm39)	K362Q	probably benign	Het
Unc13c	T	C	9: 73,643,832 (GRCm39)	T1211A	probably damaging	Het
Vmn1r15	T	C	6: 57,235,729 (GRCm39)	V199A	possibly damaging	Het
Vnn1	A	G	10: 23,776,475 (GRCm39)		probably benign	Het
Vps41	T	A	13: 19,038,786 (GRCm39)	N737K	possibly damaging	Het
Vps50	T	A	6: 3,522,265 (GRCm39)	N144K	probably benign	Het
Zc3h7a	A	T	16: 10,955,340 (GRCm39)	N911K	probably benign	Het
Zkscan7	T	A	9: 122,718,002 (GRCm39)	S132R	probably damaging	Het

Other mutations in Phactr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Phactr1	APN	13	43,110,122 (GRCm39)	missense	probably damaging	0.99
IGL01144:Phactr1	APN	13	43,191,000 (GRCm39)	missense	possibly damaging	0.93
IGL02193:Phactr1	APN	13	42,863,176 (GRCm39)	splice site	probably benign
IGL02691:Phactr1	APN	13	43,231,213 (GRCm39)	missense	probably benign	0.38
R0028:Phactr1	UTSW	13	43,210,655 (GRCm39)	missense	probably damaging	1.00
R0060:Phactr1	UTSW	13	42,836,197 (GRCm39)	nonsense	probably null
R0522:Phactr1	UTSW	13	43,213,067 (GRCm39)	missense	probably benign	0.00
R1354:Phactr1	UTSW	13	43,210,807 (GRCm39)	missense	possibly damaging	0.91
R1382:Phactr1	UTSW	13	43,286,451 (GRCm39)	missense	probably damaging	1.00
R1496:Phactr1	UTSW	13	43,248,466 (GRCm39)	missense	probably damaging	0.98
R1620:Phactr1	UTSW	13	43,248,373 (GRCm39)	missense	probably damaging	1.00
R1638:Phactr1	UTSW	13	43,110,147 (GRCm39)	missense	probably damaging	1.00
R1679:Phactr1	UTSW	13	43,248,257 (GRCm39)	missense	possibly damaging	0.94
R1679:Phactr1	UTSW	13	43,210,756 (GRCm39)	missense	possibly damaging	0.65
R2137:Phactr1	UTSW	13	43,288,651 (GRCm39)	missense	possibly damaging	0.77
R2276:Phactr1	UTSW	13	43,231,265 (GRCm39)	missense	possibly damaging	0.86
R2279:Phactr1	UTSW	13	43,231,265 (GRCm39)	missense	possibly damaging	0.86
R3122:Phactr1	UTSW	13	43,213,049 (GRCm39)	missense	possibly damaging	0.94
R4073:Phactr1	UTSW	13	43,213,245 (GRCm39)	intron	probably benign
R4131:Phactr1	UTSW	13	43,190,953 (GRCm39)	missense	probably damaging	0.99
R4237:Phactr1	UTSW	13	43,248,363 (GRCm39)	missense	possibly damaging	0.94
R4238:Phactr1	UTSW	13	43,248,363 (GRCm39)	missense	possibly damaging	0.94
R4239:Phactr1	UTSW	13	43,248,363 (GRCm39)	missense	possibly damaging	0.94
R4240:Phactr1	UTSW	13	43,248,363 (GRCm39)	missense	possibly damaging	0.94
R4507:Phactr1	UTSW	13	43,250,270 (GRCm39)	missense	probably damaging	0.96
R4602:Phactr1	UTSW	13	43,248,441 (GRCm39)	missense	probably benign	0.00
R4914:Phactr1	UTSW	13	43,287,439 (GRCm39)	missense	possibly damaging	0.58
R5382:Phactr1	UTSW	13	43,288,695 (GRCm39)	utr 3 prime	probably benign
R5882:Phactr1	UTSW	13	42,863,327 (GRCm39)	critical splice donor site	probably null
R6253:Phactr1	UTSW	13	43,248,247 (GRCm39)	missense	probably benign	0.06
R6451:Phactr1	UTSW	13	43,286,469 (GRCm39)	missense	probably damaging	1.00
R6808:Phactr1	UTSW	13	43,286,445 (GRCm39)	missense	probably damaging	1.00
R7061:Phactr1	UTSW	13	43,286,457 (GRCm39)	missense	probably damaging	1.00
R7847:Phactr1	UTSW	13	43,210,664 (GRCm39)	missense	possibly damaging	0.96
R7912:Phactr1	UTSW	13	42,863,239 (GRCm39)	missense	probably benign	0.08
R7937:Phactr1	UTSW	13	43,231,205 (GRCm39)	missense	unknown
R8344:Phactr1	UTSW	13	42,863,297 (GRCm39)	missense	possibly damaging	0.83
R8494:Phactr1	UTSW	13	43,250,144 (GRCm39)	missense	probably damaging	1.00
R9164:Phactr1	UTSW	13	42,836,178 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- GCTCACTCTGGCATCCTATG -3'
(R):5'- TTCTCAGGTAGCTTGACAATGGAAAG -3'

Sequencing Primer
(F):5'- TCCTATGCAGCCCAGAAGAG -3'
(R):5'- CCGCTATATGTCTCTTAAAACTCAGG -3'

Posted On

2014-09-17