Mutagenetix > Incidental Mutation

Incidental Mutation 'R6276:Phactr3'

507623

Institutional Source

Beutler Lab

Gene Symbol

Phactr3

Ensembl Gene

ENSMUSG00000027525

Gene Name

phosphatase and actin regulator 3

Synonyms

4930415A02Rik, 1500003N10Rik, scapinin

MMRRC Submission

044446-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R6276 (G1)

Quality Score

197.009

Status

Validated

Chromosome

Chromosomal Location

178118975-178338492 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 178279019 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 222 (E222K)

Ref Sequence

ENSEMBL: ENSMUSP00000104543 (fasta)

Gene Model

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

AlphaFold

Q8BYK5

Predicted Effect

probably benign
Transcript: ENSMUST00000103065
AA Change: E181K

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000099354
Gene: ENSMUSG00000027525
AA Change: E181K

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 benign
Transcript: ENSMUST00000103066
AA Change: E221K

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099355
Gene: ENSMUSG00000027525
AA Change: E221K

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: E222K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104543
Gene: ENSMUSG00000027525
AA Change: E222K

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

possibly damaging
Transcript: ENSMUST00000108916
AA Change: E217K

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104544
Gene: ENSMUSG00000027525
AA Change: E217K

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: E217K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104545
Gene: ENSMUSG00000027525
AA Change: E217K

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

Meta Mutation Damage Score

0.1055

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930504O13Rik	T	A	11: 58,446,366 (GRCm38)	I94L	possibly damaging	Het
4931406P16Rik	A	T	7: 34,242,377 (GRCm38)	Y627*	probably null	Het
Actr3	A	T	1: 125,395,137 (GRCm38)	D364E	probably benign	Het
Adra2c	C	T	5: 35,280,079 (GRCm38)	T65I	probably damaging	Het
Agap2	T	A	10: 127,089,360 (GRCm38)		probably null	Het
Ager	T	C	17: 34,598,754 (GRCm38)	V126A	possibly damaging	Het
Arhgap39	T	C	15: 76,737,536 (GRCm38)	I288M	probably benign	Het
Arhgap45	A	T	10: 80,026,234 (GRCm38)	S541C	probably benign	Het
Asb4	A	G	6: 5,431,043 (GRCm38)	Y426C	probably damaging	Het
Azi2	C	T	9: 118,049,338 (GRCm38)	T82I	probably damaging	Het
Baz2b	T	A	2: 59,948,223 (GRCm38)	R764S	probably damaging	Het
Ccdc146	A	C	5: 21,301,340 (GRCm38)	I701S	probably damaging	Het
Cd55b	T	A	1: 130,418,166 (GRCm38)	I172F	probably damaging	Het
Cdk11b	A	G	4: 155,634,190 (GRCm38)	E199G	probably benign	Het
Cntnap4	A	T	8: 112,752,289 (GRCm38)	T216S	possibly damaging	Het
D5Ertd579e	A	T	5: 36,604,514 (GRCm38)	N1336K	possibly damaging	Het
Dlg5	T	C	14: 24,164,568 (GRCm38)	N649S	probably damaging	Het
Dmxl1	A	G	18: 49,846,586 (GRCm38)	E96G	probably benign	Het
Dscaml1	C	T	9: 45,668,160 (GRCm38)	T335I	possibly damaging	Het
Epb41l2	G	T	10: 25,502,124 (GRCm38)	G695C	probably damaging	Het
Erbb4	C	T	1: 68,560,576 (GRCm38)	R114H	probably damaging	Het
F2rl1	G	T	13: 95,513,938 (GRCm38)	Y145*	probably null	Het
Fam58b	T	C	11: 78,751,230 (GRCm38)	K145E	probably damaging	Het
Fsip2	A	T	2: 82,980,441 (GRCm38)	Y2368F	possibly damaging	Het
Galnt7	C	T	8: 57,536,578 (GRCm38)		probably null	Het
Gm6811	T	G	17: 21,094,690 (GRCm38)		noncoding transcript	Het
Gm6811	T	A	17: 21,093,983 (GRCm38)		noncoding transcript	Het
H2-M1	G	A	17: 36,671,710 (GRCm38)	T86M	possibly damaging	Het
Hk2	T	C	6: 82,743,366 (GRCm38)	D170G	probably benign	Het
Hmcn1	C	T	1: 150,738,681 (GRCm38)	A1325T	possibly damaging	Het
Insrr	T	A	3: 87,800,519 (GRCm38)	Y89*	probably null	Het
Itga1	T	C	13: 114,980,852 (GRCm38)	E871G	probably benign	Het
Kat6a	T	C	8: 22,939,405 (GRCm38)	L1592P	possibly damaging	Het
Kndc1	C	A	7: 139,921,063 (GRCm38)	A756E	probably benign	Het
Krt12	A	T	11: 99,421,902 (GRCm38)	C105*	probably null	Het
Lama1	G	A	17: 67,784,088 (GRCm38)		probably null	Het
Lama3	A	G	18: 12,506,949 (GRCm38)	N67S	probably benign	Het
Lrrk1	A	G	7: 66,306,839 (GRCm38)		probably null	Het
Map2	T	C	1: 66,399,419 (GRCm38)	V34A	probably damaging	Het
Mroh6	A	G	15: 75,885,700 (GRCm38)	L487P	probably damaging	Het
Myo18b	A	T	5: 112,811,642 (GRCm38)	S1430T	probably benign	Het
Notch3	G	A	17: 32,154,749 (GRCm38)	T495I	probably benign	Het
Olfr391-ps	A	T	11: 73,799,403 (GRCm38)	M118K	probably damaging	Het
Palld	C	T	8: 61,513,423 (GRCm38)	A980T	probably damaging	Het
Paxip1	A	T	5: 27,761,668 (GRCm38)	I620N	probably damaging	Het
Pcdha6	A	G	18: 36,969,767 (GRCm38)		probably null	Het
Pcdhb11	G	A	18: 37,421,760 (GRCm38)	V48M	probably benign	Het
Pcdhga6	A	G	18: 37,707,644 (GRCm38)	E139G	probably benign	Het
Pck1	T	C	2: 173,157,319 (GRCm38)	V426A	probably damaging	Het
Pck2	T	A	14: 55,542,624 (GRCm38)	I110N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm38)		probably benign	Het
Ppip5k1	A	T	2: 121,323,203 (GRCm38)		probably benign	Het
Prodh2	A	G	7: 30,506,651 (GRCm38)	H278R	probably benign	Het
Rspry1	T	A	8: 94,623,258 (GRCm38)	H91Q	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480 (GRCm38)		probably benign	Het
Smn1	A	G	13: 100,127,995 (GRCm38)	N78S	possibly damaging	Het
Spta1	T	A	1: 174,218,512 (GRCm38)	I1614N	probably damaging	Het
Syt17	T	C	7: 118,434,290 (GRCm38)	D165G	probably damaging	Het
Tbck	A	G	3: 132,743,005 (GRCm38)	Y593C	probably damaging	Het
Tcaf2	G	C	6: 42,629,753 (GRCm38)	F422L	probably benign	Het
Tex15	T	A	8: 33,577,189 (GRCm38)	F2216I	possibly damaging	Het
Trpc4	A	G	3: 54,318,020 (GRCm38)	E846G	probably benign	Het
Ttc41	T	C	10: 86,744,449 (GRCm38)	I753T	probably benign	Het
Vdac1	C	T	11: 52,376,482 (GRCm38)	T70M	possibly damaging	Het
Vmn1r124	A	C	7: 21,260,179 (GRCm38)	F147V	probably benign	Het
Vmn1r220	T	C	13: 23,184,295 (GRCm38)	D77G	probably damaging	Het
Vmn2r28	T	C	7: 5,490,731 (GRCm38)	H72R	probably benign	Het
Vmn2r78	A	T	7: 86,921,110 (GRCm38)	I279L	probably benign	Het
Vmn2r95	G	T	17: 18,451,470 (GRCm38)	A490S	possibly damaging	Het
Wdfy4	C	T	14: 33,109,525 (GRCm38)	A915T	possibly damaging	Het
Zmiz2	G	T	11: 6,395,604 (GRCm38)		probably null	Het
Zscan2	A	G	7: 80,875,809 (GRCm38)	N426S	probably benign	Het

Other mutations in Phactr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Phactr3	APN	2	178,279,062 (GRCm38)	missense	probably benign	0.00
IGL01432:Phactr3	APN	2	178,283,100 (GRCm38)	missense	probably benign	0.05
IGL01580:Phactr3	APN	2	178,269,504 (GRCm38)	splice site	probably benign
IGL02688:Phactr3	APN	2	178,278,999 (GRCm38)	missense	probably damaging	0.96
IGL02985:Phactr3	APN	2	178,175,457 (GRCm38)	missense	probably benign
PIT4151001:Phactr3	UTSW	2	178,334,068 (GRCm38)	missense	probably damaging	1.00
R1854:Phactr3	UTSW	2	178,283,147 (GRCm38)	missense	probably damaging	1.00
R2132:Phactr3	UTSW	2	178,283,966 (GRCm38)	missense	probably benign	0.14
R3110:Phactr3	UTSW	2	178,279,017 (GRCm38)	missense	possibly damaging	0.85
R3112:Phactr3	UTSW	2	178,279,017 (GRCm38)	missense	possibly damaging	0.85
R3122:Phactr3	UTSW	2	178,331,618 (GRCm38)	missense	probably damaging	1.00
R4193:Phactr3	UTSW	2	178,283,152 (GRCm38)	missense	probably damaging	0.98
R4194:Phactr3	UTSW	2	178,283,109 (GRCm38)	missense	possibly damaging	0.80
R4243:Phactr3	UTSW	2	178,283,189 (GRCm38)	splice site	probably null
R4245:Phactr3	UTSW	2	178,283,189 (GRCm38)	splice site	probably null
R4397:Phactr3	UTSW	2	178,175,406 (GRCm38)	intron	probably benign
R4433:Phactr3	UTSW	2	178,283,132 (GRCm38)	missense	probably damaging	1.00
R4581:Phactr3	UTSW	2	178,283,172 (GRCm38)	missense	probably damaging	1.00
R4772:Phactr3	UTSW	2	178,283,936 (GRCm38)	missense	probably damaging	1.00
R4830:Phactr3	UTSW	2	178,284,018 (GRCm38)	missense	probably damaging	0.98
R5045:Phactr3	UTSW	2	178,331,619 (GRCm38)	missense	probably damaging	1.00
R5442:Phactr3	UTSW	2	178,142,461 (GRCm38)	missense	probably benign	0.38
R5461:Phactr3	UTSW	2	178,278,901 (GRCm38)	missense	probably benign
R5816:Phactr3	UTSW	2	178,302,793 (GRCm38)	missense	probably damaging	1.00
R6668:Phactr3	UTSW	2	178,332,864 (GRCm38)	missense	probably damaging	1.00
R7144:Phactr3	UTSW	2	178,302,736 (GRCm38)	missense	probably damaging	1.00
R7340:Phactr3	UTSW	2	178,334,061 (GRCm38)	missense	probably damaging	1.00
R7798:Phactr3	UTSW	2	178,283,910 (GRCm38)	missense	probably benign	0.19
R8009:Phactr3	UTSW	2	178,332,944 (GRCm38)	missense	probably damaging	1.00
R8074:Phactr3	UTSW	2	178,302,796 (GRCm38)	missense	probably damaging	1.00
R8348:Phactr3	UTSW	2	178,256,142 (GRCm38)	missense	probably benign	0.03
R8530:Phactr3	UTSW	2	178,284,026 (GRCm38)	missense	probably damaging	1.00
R9077:Phactr3	UTSW	2	178,332,965 (GRCm38)	splice site	probably benign
R9153:Phactr3	UTSW	2	178,283,946 (GRCm38)	missense	possibly damaging	0.79
R9406:Phactr3	UTSW	2	178,284,063 (GRCm38)	missense	probably damaging	0.99
R9676:Phactr3	UTSW	2	178,284,044 (GRCm38)	nonsense	probably null
R9721:Phactr3	UTSW	2	178,256,250 (GRCm38)	missense	probably damaging	1.00
R9722:Phactr3	UTSW	2	178,256,250 (GRCm38)	missense	probably damaging	1.00
R9776:Phactr3	UTSW	2	178,334,103 (GRCm38)	missense	probably damaging	1.00
R9778:Phactr3	UTSW	2	178,283,012 (GRCm38)	missense	possibly damaging	0.73
Z1176:Phactr3	UTSW	2	178,269,374 (GRCm38)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGGATCAGTGTCTTCCCACC -3'
(R):5'- TGCTGAGGCAATGACAAGAGTC -3'

Sequencing Primer
(F):5'- GATCAGTGTCTTCCCACCATCAAG -3'
(R):5'- CAAGAGTCAGCCTGGAGC -3'

Posted On

2018-03-15