Mutagenetix > Incidental Mutation

Incidental Mutation 'R4772:Phactr3'

367586

Institutional Source

Beutler Lab

Gene Symbol

Phactr3

Ensembl Gene

ENSMUSG00000027525

Gene Name

phosphatase and actin regulator 3

Synonyms

4930415A02Rik, 1500003N10Rik, scapinin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R4772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

177760768-177980285 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 177925729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 330 (R330W)

Ref Sequence

ENSEMBL: ENSMUSP00000104544 (fasta)

Gene Model

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

AlphaFold

Q8BYK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000103065
AA Change: R294W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099354
Gene: ENSMUSG00000027525
AA Change: R294W

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 damaging
Transcript: ENSMUST00000103066
AA Change: R334W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000099355
Gene: ENSMUSG00000027525
AA Change: R334W

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: R335W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104543
Gene: ENSMUSG00000027525
AA Change: R335W

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

probably damaging
Transcript: ENSMUST00000108916
AA Change: R330W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104544
Gene: ENSMUSG00000027525
AA Change: R330W

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: R330W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104545
Gene: ENSMUSG00000027525
AA Change: R330W

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

0.0823

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

95% (74/78)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,265,339 (GRCm39)		probably null	Het
Adamts19	A	G	18: 58,970,848 (GRCm39)	Q144R	possibly damaging	Het
Adgrb3	C	A	1: 25,570,956 (GRCm39)	C507F	probably damaging	Het
Atg9b	T	C	5: 24,590,237 (GRCm39)	*923W	probably null	Het
Atp13a4	T	C	16: 29,239,653 (GRCm39)		probably benign	Het
Baz2b	G	T	2: 59,788,795 (GRCm39)	R697S	probably damaging	Het
Bicdl1	A	G	5: 115,799,537 (GRCm39)	I184T	probably benign	Het
Bpifb4	C	T	2: 153,784,903 (GRCm39)	L204F	possibly damaging	Het
Cep120	C	T	18: 53,851,561 (GRCm39)	R577Q	probably damaging	Het
Cplx4	T	C	18: 66,103,048 (GRCm39)	E24G	possibly damaging	Het
Dcxr	T	C	11: 120,616,923 (GRCm39)	T147A	probably benign	Het
Dnajc10	C	A	2: 80,170,870 (GRCm39)	H454N	probably damaging	Het
Dsp	G	T	13: 38,351,504 (GRCm39)	G108*	probably null	Het
Entpd6	T	A	2: 150,609,014 (GRCm39)	I366K	probably damaging	Het
Fam111a	A	G	19: 12,565,057 (GRCm39)	K269E	probably benign	Het
Grid2ip	T	G	5: 143,361,455 (GRCm39)	V222G	possibly damaging	Het
Hmcn2	T	G	2: 31,335,326 (GRCm39)	V4421G	probably benign	Het
Ifi207	T	C	1: 173,555,253 (GRCm39)	T817A	probably damaging	Het
Irak2	A	T	6: 113,670,683 (GRCm39)	E533V	probably damaging	Het
Katnip	A	G	7: 125,464,523 (GRCm39)	S1297G	probably damaging	Het
Kbtbd6	T	C	14: 79,689,596 (GRCm39)	F97S	probably damaging	Het
Kctd14	A	T	7: 97,106,883 (GRCm39)	E99V	probably damaging	Het
Klhl10	A	T	11: 100,338,557 (GRCm39)	Y432F	probably benign	Het
Lrrc49	T	C	9: 60,592,335 (GRCm39)	N53S	possibly damaging	Het
Mief2	T	A	11: 60,621,288 (GRCm39)		probably benign	Het
Mog	A	T	17: 37,334,049 (GRCm39)	S15T	unknown	Het
Mpi	T	C	9: 57,452,181 (GRCm39)	D365G	probably damaging	Het
Mpp7	A	G	18: 7,379,983 (GRCm39)		probably null	Het
Nes	A	G	3: 87,883,486 (GRCm39)	T582A	probably benign	Het
Nlrp14	A	G	7: 106,780,393 (GRCm39)	D5G	probably benign	Het
Nr1i3	C	T	1: 171,044,719 (GRCm39)	T218I	probably damaging	Het
Nup43	C	T	10: 7,554,433 (GRCm39)	R339*	probably null	Het
Nup58	T	A	14: 60,457,471 (GRCm39)	R577S	probably benign	Het
Olfr908	C	T	9: 38,427,897 (GRCm39)		probably benign	Het
Or4l15	AAATTTGAA	AAA	14: 50,198,452 (GRCm39)		probably benign	Het
Or52n4b	T	A	7: 108,144,092 (GRCm39)	M120K	probably damaging	Het
Or5d35	T	A	2: 87,855,207 (GRCm39)	I47K	probably damaging	Het
Or6c38	A	T	10: 128,929,537 (GRCm39)	V102D	possibly damaging	Het
Or9g20	G	A	2: 85,630,338 (GRCm39)	S92F	probably damaging	Het
Orc1	T	C	4: 108,436,765 (GRCm39)		probably benign	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Phldb1	G	A	9: 44,622,324 (GRCm39)	R81W	probably damaging	Het
Pip5k1c	C	T	10: 81,151,774 (GRCm39)	P656L	probably benign	Het
Pkn3	T	G	2: 29,974,692 (GRCm39)		probably null	Het
Plcb2	T	A	2: 118,543,615 (GRCm39)	H752L	probably benign	Het
Plch1	G	A	3: 63,660,746 (GRCm39)	T291M	probably damaging	Het
Plekhg1	A	T	10: 3,823,127 (GRCm39)	M32L	probably benign	Het
Plekhg1	A	T	10: 3,823,130 (GRCm39)	T33S	probably damaging	Het
Plk4	A	G	3: 40,759,625 (GRCm39)	T174A	probably damaging	Het
Ppip5k2	C	A	1: 97,648,792 (GRCm39)		probably benign	Het
Prl2a1	G	A	13: 27,988,961 (GRCm39)	V29M	probably benign	Het
R3hcc1l	T	C	19: 42,571,996 (GRCm39)		probably benign	Het
Rasa3	C	T	8: 13,648,289 (GRCm39)	G125D	probably damaging	Het
Sema3f	A	T	9: 107,566,919 (GRCm39)	Y136*	probably null	Het
Slc13a5	T	A	11: 72,141,672 (GRCm39)		probably null	Het
Slc16a1	T	C	3: 104,560,880 (GRCm39)	V395A	possibly damaging	Het
Sparcl1	C	T	5: 104,236,356 (GRCm39)	A466T	probably benign	Het
Srrm1	G	A	4: 135,069,690 (GRCm39)		probably benign	Het
Styxl1	G	A	5: 135,797,755 (GRCm39)	R50*	probably null	Het
Tex264	T	A	9: 106,550,901 (GRCm39)	I99F	possibly damaging	Het
Tgtp2	T	C	11: 48,949,811 (GRCm39)	T254A	probably damaging	Het
Tmem245	A	C	4: 56,937,989 (GRCm39)		probably null	Het
Tnik	A	T	3: 28,661,359 (GRCm39)	T587S	probably benign	Het
Tpr	T	G	1: 150,288,864 (GRCm39)	S648A	possibly damaging	Het
Ttn	T	C	2: 76,596,313 (GRCm39)	E18454G	probably damaging	Het
Utp20	A	C	10: 88,645,797 (GRCm39)	H527Q	probably benign	Het
Vmn1r1	A	T	1: 181,985,111 (GRCm39)	S185T	probably benign	Het
Vps54	C	T	11: 21,262,952 (GRCm39)	H680Y	probably damaging	Het
Vwa5b2	A	G	16: 20,419,553 (GRCm39)		probably null	Het
Wscd1	T	C	11: 71,662,802 (GRCm39)		probably null	Het
Zbtb41	C	T	1: 139,375,152 (GRCm39)	P871S	probably damaging	Het
Zcchc4	T	C	5: 52,953,549 (GRCm39)	L186P	possibly damaging	Het
Zdhhc13	A	G	7: 48,449,621 (GRCm39)	Y73C	probably benign	Het
Zfp12	A	G	5: 143,225,755 (GRCm39)	E21G	probably damaging	Het

Other mutations in Phactr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Phactr3	APN	2	177,920,855 (GRCm39)	missense	probably benign	0.00
IGL01432:Phactr3	APN	2	177,924,893 (GRCm39)	missense	probably benign	0.05
IGL01580:Phactr3	APN	2	177,911,297 (GRCm39)	splice site	probably benign
IGL02688:Phactr3	APN	2	177,920,792 (GRCm39)	missense	probably damaging	0.96
IGL02985:Phactr3	APN	2	177,817,250 (GRCm39)	missense	probably benign
PIT4151001:Phactr3	UTSW	2	177,975,861 (GRCm39)	missense	probably damaging	1.00
R1854:Phactr3	UTSW	2	177,924,940 (GRCm39)	missense	probably damaging	1.00
R2132:Phactr3	UTSW	2	177,925,759 (GRCm39)	missense	probably benign	0.14
R3110:Phactr3	UTSW	2	177,920,810 (GRCm39)	missense	possibly damaging	0.85
R3112:Phactr3	UTSW	2	177,920,810 (GRCm39)	missense	possibly damaging	0.85
R3122:Phactr3	UTSW	2	177,973,411 (GRCm39)	missense	probably damaging	1.00
R4193:Phactr3	UTSW	2	177,924,945 (GRCm39)	missense	probably damaging	0.98
R4194:Phactr3	UTSW	2	177,924,902 (GRCm39)	missense	possibly damaging	0.80
R4243:Phactr3	UTSW	2	177,924,982 (GRCm39)	splice site	probably null
R4245:Phactr3	UTSW	2	177,924,982 (GRCm39)	splice site	probably null
R4397:Phactr3	UTSW	2	177,817,199 (GRCm39)	intron	probably benign
R4433:Phactr3	UTSW	2	177,924,925 (GRCm39)	missense	probably damaging	1.00
R4581:Phactr3	UTSW	2	177,924,965 (GRCm39)	missense	probably damaging	1.00
R4830:Phactr3	UTSW	2	177,925,811 (GRCm39)	missense	probably damaging	0.98
R5045:Phactr3	UTSW	2	177,973,412 (GRCm39)	missense	probably damaging	1.00
R5442:Phactr3	UTSW	2	177,784,254 (GRCm39)	missense	probably benign	0.38
R5461:Phactr3	UTSW	2	177,920,694 (GRCm39)	missense	probably benign
R5816:Phactr3	UTSW	2	177,944,586 (GRCm39)	missense	probably damaging	1.00
R6276:Phactr3	UTSW	2	177,920,812 (GRCm39)	missense	probably damaging	0.99
R6668:Phactr3	UTSW	2	177,974,657 (GRCm39)	missense	probably damaging	1.00
R7144:Phactr3	UTSW	2	177,944,529 (GRCm39)	missense	probably damaging	1.00
R7340:Phactr3	UTSW	2	177,975,854 (GRCm39)	missense	probably damaging	1.00
R7798:Phactr3	UTSW	2	177,925,703 (GRCm39)	missense	probably benign	0.19
R8009:Phactr3	UTSW	2	177,974,737 (GRCm39)	missense	probably damaging	1.00
R8074:Phactr3	UTSW	2	177,944,589 (GRCm39)	missense	probably damaging	1.00
R8348:Phactr3	UTSW	2	177,897,935 (GRCm39)	missense	probably benign	0.03
R8530:Phactr3	UTSW	2	177,925,819 (GRCm39)	missense	probably damaging	1.00
R9077:Phactr3	UTSW	2	177,974,758 (GRCm39)	splice site	probably benign
R9153:Phactr3	UTSW	2	177,925,739 (GRCm39)	missense	possibly damaging	0.79
R9406:Phactr3	UTSW	2	177,925,856 (GRCm39)	missense	probably damaging	0.99
R9676:Phactr3	UTSW	2	177,925,837 (GRCm39)	nonsense	probably null
R9721:Phactr3	UTSW	2	177,898,043 (GRCm39)	missense	probably damaging	1.00
R9722:Phactr3	UTSW	2	177,898,043 (GRCm39)	missense	probably damaging	1.00
R9776:Phactr3	UTSW	2	177,975,896 (GRCm39)	missense	probably damaging	1.00
R9778:Phactr3	UTSW	2	177,924,805 (GRCm39)	missense	possibly damaging	0.73
Z1176:Phactr3	UTSW	2	177,911,167 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCCCAGGTTCCCTTCAAAGC -3'
(R):5'- ATGATGGAGTCATTGAGCGC -3'

Sequencing Primer
(F):5'- TTCAAAGCTCTCAACACAAGGTG -3'
(R):5'- GAGTCATTGAGCGCCTCCTC -3'

Posted On

2015-12-29