Mutagenetix > Incidental Mutation

Incidental Mutation 'R6253:Phactr1'

506349

Institutional Source

Beutler Lab

Gene Symbol

Phactr1

Ensembl Gene

ENSMUSG00000054728

Gene Name

phosphatase and actin regulator 1

Synonyms

Rpel1, 9630030F18Rik

MMRRC Submission

044370-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6253 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42834099-43292002 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43248247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 399 (S399T)

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

unknown
Transcript: ENSMUST00000066928
AA Change: S330T

SMART Domains

Protein: ENSMUSP00000066663
Gene: ENSMUSG00000054728
AA Change: S330T

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: S406T

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105790
Gene: ENSMUSG00000054728
AA Change: S406T

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: S337T

SMART Domains

Protein: ENSMUSP00000122232
Gene: ENSMUSG00000054728
AA Change: S337T

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: S314T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000123346
Gene: ENSMUSG00000054728
AA Change: S314T

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: S399T

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000115228
Gene: ENSMUSG00000054728
AA Change: S399T

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: S337T

SMART Domains

Protein: ENSMUSP00000115207
Gene: ENSMUSG00000054728
AA Change: S337T

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

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
4921504E06Rik	A	G	2: 19,528,929 (GRCm39)	Y151H	possibly damaging	Het
Aasdh	A	G	5: 77,034,105 (GRCm39)	I482T	possibly damaging	Het
Abca3	G	A	17: 24,616,526 (GRCm39)	M989I	probably benign	Het
Acvr2b	C	T	9: 119,257,627 (GRCm39)	P220L	probably damaging	Het
Aqr	T	C	2: 113,986,758 (GRCm39)	D204G	possibly damaging	Het
Arpp19	G	T	9: 74,964,016 (GRCm39)	D123Y	probably damaging	Het
Bod1l	A	G	5: 41,983,881 (GRCm39)	I554T	probably damaging	Het
Bpifa5	A	G	2: 154,005,420 (GRCm39)	M1V	probably null	Het
Cdh3	T	A	8: 107,263,695 (GRCm39)		probably null	Het
Cep170	A	T	1: 176,607,960 (GRCm39)	D165E	possibly damaging	Het
Cfap46	CCTTCTTCT	CCTTCT	7: 139,218,816 (GRCm39)		probably benign	Het
Cog3	A	G	14: 75,957,152 (GRCm39)	L627P	probably damaging	Het
Col23a1	C	T	11: 51,464,995 (GRCm39)	L453F	probably damaging	Het
Cyp2a22	T	A	7: 26,633,657 (GRCm39)	Q351L	probably benign	Het
Ddx4	T	G	13: 112,772,557 (GRCm39)	K77N	probably benign	Het
Ddx4	C	A	13: 112,772,556 (GRCm39)	E78*	probably null	Het
Decr1	A	T	4: 15,931,179 (GRCm39)	N92K	probably benign	Het
Dnm2	T	C	9: 21,411,571 (GRCm39)	L600P	probably damaging	Het
Ece2	A	C	16: 20,457,932 (GRCm39)	N356H	probably damaging	Het
Ern1	A	T	11: 106,317,734 (GRCm39)	I130N	possibly damaging	Het
Fat2	G	A	11: 55,187,097 (GRCm39)	R1250C	probably damaging	Het
Fat4	T	A	3: 39,005,505 (GRCm39)	V1968D	probably damaging	Het
Frmd6	A	G	12: 70,923,987 (GRCm39)	K82E	probably damaging	Het
Gm5431	A	G	11: 48,785,826 (GRCm39)	V183A	probably benign	Het
Golgb1	T	C	16: 36,735,984 (GRCm39)	S1744P	possibly damaging	Het
Hnrnpa3	C	G	2: 75,492,914 (GRCm39)	Q213E	possibly damaging	Het
Hspa1a	A	G	17: 35,189,526 (GRCm39)	F459S	probably damaging	Het
Ice1	A	G	13: 70,751,283 (GRCm39)	L1601P	probably damaging	Het
Igkv19-93	T	A	6: 68,713,323 (GRCm39)	D102V	probably damaging	Het
Kansl1	G	A	11: 104,248,352 (GRCm39)	T534I	probably benign	Het
Lpin2	T	A	17: 71,538,264 (GRCm39)	S303R	probably damaging	Het
Lrpprc	T	A	17: 85,048,065 (GRCm39)	I845F	probably benign	Het
Mdn1	A	G	4: 32,749,593 (GRCm39)	T4259A	probably benign	Het
Mtcl2	T	C	2: 156,863,339 (GRCm39)	S1197G	probably benign	Het
Mtss1	A	G	15: 58,815,568 (GRCm39)	I664T	probably benign	Het
Myh8	A	G	11: 67,192,793 (GRCm39)	E1528G	probably benign	Het
Myo5c	A	T	9: 75,152,319 (GRCm39)	E69V	probably damaging	Het
Myom3	A	T	4: 135,513,203 (GRCm39)	D627V	probably benign	Het
Myom3	A	G	4: 135,528,314 (GRCm39)	N1053S	probably benign	Het
Or10a4	G	A	7: 106,697,464 (GRCm39)	R264H	possibly damaging	Het
Or2d2b	A	T	7: 106,705,145 (GRCm39)	S308T	probably benign	Het
Or6z3	T	C	7: 6,463,547 (GRCm39)	V13A	probably benign	Het
Plch2	T	A	4: 155,091,558 (GRCm39)	Y84F	probably damaging	Het
Ppp1r13b	A	G	12: 111,802,160 (GRCm39)	S278P	probably benign	Het
Prol1	A	G	5: 88,475,736 (GRCm39)	Y42C	probably damaging	Het
Pum2	A	G	12: 8,798,205 (GRCm39)	E906G	probably damaging	Het
Pwwp3a	T	A	10: 80,068,848 (GRCm39)	C331S	probably benign	Het
Rbp2	G	T	9: 98,372,700 (GRCm39)	S13I	probably benign	Het
Rbp4	G	A	19: 38,113,428 (GRCm39)	T30M	probably benign	Het
Selenbp1	T	C	3: 94,851,157 (GRCm39)	L351P	possibly damaging	Het
Serpinb6b	T	C	13: 33,156,255 (GRCm39)	F115S	probably damaging	Het
Tigd3	A	T	19: 5,942,870 (GRCm39)	Y87N	probably damaging	Het
Tigd5	T	A	15: 75,782,871 (GRCm39)	L411H	probably damaging	Het
Ttc3	T	C	16: 94,258,272 (GRCm39)		probably null	Het
Uhmk1	T	C	1: 170,027,449 (GRCm39)	Q416R	probably damaging	Het
Zfand4	T	C	6: 116,250,575 (GRCm39)	F2L	probably damaging	Het
Zfhx3	C	T	8: 109,682,020 (GRCm39)	T3153M	possibly damaging	Het
Zfp697	T	G	3: 98,334,855 (GRCm39)	C207G	possibly damaging	Het
Zfp935	T	C	13: 62,602,685 (GRCm39)	T172A	probably benign	Het
Znrf3	G	T	11: 5,230,865 (GRCm39)	L883I	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
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
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'- TCTGTTTGGCTCCAGGCTAC -3'
(R):5'- CGTACTGGTGTACAAAGAGGCG -3'

Sequencing Primer
(F):5'- AGGCTACCGTCTCCACCAG -3'
(R):5'- GTGTACAAAGAGGCGTCATCATCTTC -3'

Posted On

2018-03-15