Mutagenetix > Incidental Mutation

Incidental Mutation 'R4602:Phactr1'

345739

Institutional Source

Beutler Lab

Gene Symbol

Phactr1

Ensembl Gene

ENSMUSG00000054728

Gene Name

phosphatase and actin regulator 1

Synonyms

Rpel1, 9630030F18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4602 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42834099-43292002 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43248441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 463 (E463D)

Ref Sequence

ENSEMBL: ENSMUSP00000115228 (fasta)

Gene Model

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

AlphaFold

Q2M3X8

PDB Structure

Structure of the Phactr1 RPEL domain and RPEL motif directed assemblies with G-actin reveal the molecular basis for actin binding cooperativity. [X-RAY DIFFRACTION]
Structure of the Phactr1 RPEL-N domain bound to G-actin [X-RAY DIFFRACTION]
Structure of the Phactr1 RPEL-2 domain bound to actin [X-RAY DIFFRACTION]
Structure of the Phactr1 RPEL-2 bound to G-actin [X-RAY DIFFRACTION]
Structure of the Phactr1 RPEL-3 bound to G-actin [X-RAY DIFFRACTION]
Structure of the Phactr1 RPEL domain bound to G-actin [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000066928
AA Change: E394D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000066663
Gene: ENSMUSG00000054728
AA Change: E394D

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 benign
Transcript: ENSMUST00000110161
AA Change: E470D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105790
Gene: ENSMUSG00000054728
AA Change: E470D

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: E401D

SMART Domains

Protein: ENSMUSP00000122232
Gene: ENSMUSG00000054728
AA Change: E401D

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 benign
Transcript: ENSMUST00000131942
AA Change: E378D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000123346
Gene: ENSMUSG00000054728
AA Change: E378D

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 benign
Transcript: ENSMUST00000148891
AA Change: E463D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000115228
Gene: ENSMUSG00000054728
AA Change: E463D

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: E401D

SMART Domains

Protein: ENSMUSP00000115207
Gene: ENSMUSG00000054728
AA Change: E401D

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,988,189 (GRCm39)	K3158E	possibly damaging	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Ankmy1	A	T	1: 92,816,372 (GRCm39)	N247K	probably benign	Het
Atp1a1	A	G	3: 101,494,259 (GRCm39)	V447A	probably benign	Het
Atp1a4	A	C	1: 172,067,332 (GRCm39)	M600R	probably damaging	Het
Baat	A	G	4: 49,502,727 (GRCm39)	Y132H	probably damaging	Het
Ceacam15	A	G	7: 16,405,906 (GRCm39)	V215A	probably damaging	Het
Celf2	G	T	2: 6,590,831 (GRCm39)	N279K	possibly damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Clec14a	C	T	12: 58,314,767 (GRCm39)	R285H	probably benign	Het
Ctnna1	T	G	18: 35,312,880 (GRCm39)	I244R	possibly damaging	Het
Dcxr	T	A	11: 120,617,130 (GRCm39)	N105Y	possibly damaging	Het
Dnajc6	T	C	4: 101,468,461 (GRCm39)	F166L	probably damaging	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Faf1	A	G	4: 109,584,625 (GRCm39)	D67G	probably benign	Het
Fancm	G	A	12: 65,171,718 (GRCm39)	R1786H	probably benign	Het
Fnbp1	A	G	2: 30,926,552 (GRCm39)		probably null	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Gbp5	A	G	3: 142,209,546 (GRCm39)	E164G	probably benign	Het
Gm4922	A	T	10: 18,660,007 (GRCm39)	Y238*	probably null	Het
Gm8257	A	G	14: 44,893,774 (GRCm39)	Y62H	probably damaging	Het
Grin2b	A	G	6: 135,755,739 (GRCm39)	F525S	probably damaging	Het
Hjv	T	G	3: 96,434,869 (GRCm39)	S203A	probably benign	Het
Hsd17b3	C	A	13: 64,210,984 (GRCm39)		probably null	Het
Ighv1-23	T	A	12: 114,728,179 (GRCm39)	Q81L	probably benign	Het
Inpp4b	T	C	8: 82,696,164 (GRCm39)	V366A	probably damaging	Het
Jak1	G	T	4: 101,036,791 (GRCm39)	A283D	possibly damaging	Het
Kmt2d	G	T	15: 98,748,140 (GRCm39)		probably benign	Het
Mbtps1	A	T	8: 120,262,086 (GRCm39)	D354E	probably damaging	Het
Mettl17	T	C	14: 52,126,246 (GRCm39)	V218A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nfat5	C	T	8: 108,093,855 (GRCm39)	Q699*	probably null	Het
Or4s2b	G	A	2: 88,508,240 (GRCm39)	V14I	probably benign	Het
Or4s2b	T	G	2: 88,508,523 (GRCm39)	V101G	probably benign	Het
Or7e174	C	A	9: 20,012,540 (GRCm39)	H162N	probably benign	Het
Osbpl7	C	A	11: 96,947,095 (GRCm39)	S265R	possibly damaging	Het
Pcdh15	A	G	10: 74,430,046 (GRCm39)	T1258A	probably damaging	Het
Pcdh20	A	T	14: 88,705,866 (GRCm39)	L478Q	probably damaging	Het
Pde11a	A	G	2: 75,988,677 (GRCm39)	V488A	probably benign	Het
Phaf1	C	A	8: 105,973,520 (GRCm39)	N282K	possibly damaging	Het
Samd9l	A	T	6: 3,373,935 (GRCm39)	Y1109N	probably damaging	Het
Samd9l	GAA	GAAA	6: 3,373,937 (GRCm39)		probably null	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Sgk2	G	A	2: 162,836,674 (GRCm39)		probably null	Het
Slco1a6	C	A	6: 142,047,378 (GRCm39)	C404F	probably benign	Het
Spaca6	C	T	17: 18,051,387 (GRCm39)	A21V	probably damaging	Het
Sphkap	G	T	1: 83,256,782 (GRCm39)	Y322*	probably null	Het
Sptlc3	G	A	2: 139,478,600 (GRCm39)	V520I	probably benign	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Syt9	A	T	7: 107,035,594 (GRCm39)	K204*	probably null	Het
Taf3	A	G	2: 9,957,468 (GRCm39)	V233A	probably damaging	Het
Tbccd1	T	C	16: 22,637,285 (GRCm39)		probably null	Het
Tdrd5	T	A	1: 156,111,944 (GRCm39)	T479S	probably benign	Het
Tex10	T	C	4: 48,452,946 (GRCm39)	D671G	probably benign	Het
Tgtp2	T	C	11: 48,949,811 (GRCm39)	T254A	probably damaging	Het
Tmtc2	T	C	10: 105,249,391 (GRCm39)	Y114C	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ubac1	A	T	2: 25,888,989 (GRCm39)	I402N	probably damaging	Het
Zmat1	A	T	X: 133,873,694 (GRCm39)	S566T	probably damaging	Homo

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
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
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'- TTTTCATGCAGCTCCGAGC -3'
(R):5'- ATTACTGCTTAAGGGGCCTG -3'

Sequencing Primer
(F):5'- ACAGTTCTGGTTTGCACTCAAG -3'
(R):5'- TGGAGAAGTCACCTGAGCC -3'

Posted On

2015-09-25