Mutagenetix > Incidental Mutation

Incidental Mutation 'R2279:Phactr1'

242996

Institutional Source

Beutler Lab

Gene Symbol

Phactr1

Ensembl Gene

ENSMUSG00000054728

Gene Name

phosphatase and actin regulator 1

Synonyms

Rpel1, 9630030F18Rik

MMRRC Submission

040278-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2279 (G1)

Quality Score

105

Status

Not validated

Chromosome

Chromosomal Location

42834099-43292002 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43231265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 244 (S244C)

Ref Sequence

ENSEMBL: ENSMUSP00000123346 (fasta)

Gene Model

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

AlphaFold

Q2M3X8

Predicted Effect

unknown
Transcript: ENSMUST00000066928
AA Change: S260C

SMART Domains

Protein: ENSMUSP00000066663
Gene: ENSMUSG00000054728
AA Change: S260C

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

unknown
Transcript: ENSMUST00000110161
AA Change: S336C

SMART Domains

Protein: ENSMUSP00000105790
Gene: ENSMUSG00000054728
AA Change: S336C

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: S267C

SMART Domains

Protein: ENSMUSP00000122232
Gene: ENSMUSG00000054728
AA Change: S267C

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

possibly damaging
Transcript: ENSMUST00000131942
AA Change: S244C

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123346
Gene: ENSMUSG00000054728
AA Change: S244C

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

unknown
Transcript: ENSMUST00000148891
AA Change: S329C

SMART Domains

Protein: ENSMUSP00000115228
Gene: ENSMUSG00000054728
AA Change: S329C

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: S267C

SMART Domains

Protein: ENSMUSP00000115207
Gene: ENSMUSG00000054728
AA Change: S267C

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	G	T	5: 90,412,576 (GRCm39)	N1249K	probably damaging	Het
Anks1b	T	C	10: 89,885,958 (GRCm39)	M218T	probably damaging	Het
Arfgef2	G	C	2: 166,707,679 (GRCm39)	G1025A	probably benign	Het
Arhgap21	T	C	2: 20,868,037 (GRCm39)	I829V	possibly damaging	Het
Arhgap42	T	C	9: 9,035,512 (GRCm39)	M277V	probably benign	Het
Cabin1	T	C	10: 75,589,295 (GRCm39)	I87M	probably benign	Het
Cdc42bpa	A	G	1: 179,864,484 (GRCm39)	N149D	probably damaging	Het
Cdh20	C	A	1: 104,875,139 (GRCm39)	A307E	probably damaging	Het
Cdk18	A	T	1: 132,043,690 (GRCm39)	Y385N	probably damaging	Het
Cfap410	T	C	10: 77,817,476 (GRCm39)	Y68H	probably damaging	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Cptp	A	G	4: 155,950,878 (GRCm39)	I196T	probably damaging	Het
Cyp4b1	T	A	4: 115,497,557 (GRCm39)	Y147F	probably benign	Het
Dbf4	T	C	5: 8,471,333 (GRCm39)	N36S	possibly damaging	Het
Dbr1	G	T	9: 99,462,200 (GRCm39)	Q166H	probably benign	Het
Ddx42	T	A	11: 106,133,765 (GRCm39)	D580E	probably damaging	Het
Dnah17	T	C	11: 117,987,387 (GRCm39)	K1308E	possibly damaging	Het
Dpep1	A	T	8: 123,920,883 (GRCm39)	D21V	probably benign	Het
Dspp	G	A	5: 104,326,250 (GRCm39)	S871N	unknown	Het
En1	T	A	1: 120,534,916 (GRCm39)	*402K	probably null	Het
Eogt	G	T	6: 97,111,262 (GRCm39)	R200S	probably benign	Het
Epb41l3	A	G	17: 69,577,645 (GRCm39)	T542A	possibly damaging	Het
Fam50b	C	T	13: 34,930,823 (GRCm39)	Q100*	probably null	Het
Gask1a	T	C	9: 121,794,668 (GRCm39)	I274T	probably benign	Het
Gh	T	C	11: 106,191,613 (GRCm39)	E143G	probably damaging	Het
Hcn3	C	A	3: 89,055,168 (GRCm39)	R693L	probably benign	Het
Htra1	A	T	7: 130,563,752 (GRCm39)	I208F	probably damaging	Het
Ifna13	T	A	4: 88,562,156 (GRCm39)	E156V	probably benign	Het
Ints6	A	G	14: 62,942,131 (GRCm39)		probably null	Het
Kifc5b	A	G	17: 27,144,515 (GRCm39)	I545V	probably damaging	Het
Lrrc4c	C	T	2: 97,460,850 (GRCm39)	S492F	possibly damaging	Het
Madd	A	T	2: 90,974,028 (GRCm39)	C1419S	possibly damaging	Het
Map2k6	T	C	11: 110,390,290 (GRCm39)	S275P	probably damaging	Het
Mpp2	T	C	11: 101,955,127 (GRCm39)	E166G	probably damaging	Het
Mrpl48	G	A	7: 100,214,471 (GRCm39)	T48I	probably damaging	Het
Neu1	A	G	17: 35,153,350 (GRCm39)	D291G	probably damaging	Het
Nktr	A	G	9: 121,560,603 (GRCm39)	K116E	possibly damaging	Het
Npc1	T	C	18: 12,330,236 (GRCm39)		probably null	Het
Or6b9	A	T	7: 106,555,834 (GRCm39)	M103K	probably benign	Het
Or6c1b	A	T	10: 129,273,526 (GRCm39)	M282L	probably benign	Het
Or8k1	T	C	2: 86,047,148 (GRCm39)	E302G	probably benign	Het
Pclo	T	A	5: 14,764,287 (GRCm39)	D4253E	unknown	Het
Prex1	A	T	2: 166,419,875 (GRCm39)	I79N	probably benign	Het
Rhebl1	A	T	15: 98,776,167 (GRCm39)	D162E	probably benign	Het
Rnf32	G	T	5: 29,430,278 (GRCm39)	V366F	probably benign	Het
Rpn2	A	G	2: 157,152,208 (GRCm39)	T394A	possibly damaging	Het
Ryr3	A	T	2: 112,479,664 (GRCm39)	M4386K	possibly damaging	Het
Sirt7	T	C	11: 120,515,321 (GRCm39)	S112G	probably damaging	Het
Slc1a6	A	T	10: 78,624,882 (GRCm39)	M96L	probably benign	Het
Slc25a29	T	C	12: 108,792,852 (GRCm39)	E242G	probably benign	Het
Slc30a2	G	T	4: 134,075,857 (GRCm39)	Q210H	probably benign	Het
Sorcs2	A	T	5: 36,199,430 (GRCm39)		probably null	Het
Spink5	A	G	18: 44,119,396 (GRCm39)	N236D	probably benign	Het
Syne2	A	G	12: 75,974,240 (GRCm39)	E1146G	possibly damaging	Het
Sytl3	A	G	17: 6,976,273 (GRCm39)		probably benign	Het
Tasor	A	C	14: 27,164,452 (GRCm39)	K253Q	probably damaging	Het
Tgm7	A	G	2: 120,929,045 (GRCm39)	S284P	probably damaging	Het
Tmem45a	A	T	16: 56,643,882 (GRCm39)	L89Q	probably damaging	Het
Ttc23l	A	G	15: 10,523,678 (GRCm39)	I347T	possibly damaging	Het
Txlna	T	C	4: 129,525,935 (GRCm39)	E304G	probably damaging	Het
Zfp709	T	C	8: 72,642,934 (GRCm39)	V121A	probably benign	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
R2055:Phactr1	UTSW	13	43,231,416 (GRCm39)	missense	probably damaging	1.00
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
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'- ACACACATATGTTCTGGGTTGC -3'
(R):5'- CATCGTCATGGCGAGTGTCTTG -3'

Sequencing Primer
(F):5'- GTGCACACACATGATGTTCTCAG -3'
(R):5'- AGTGTCTTGTTCAGCTCGTCGATC -3'

Posted On

2014-10-16