Mutagenetix > Incidental Mutation

Incidental Mutation 'R7798:Phactr3'

600336

Institutional Source

Beutler Lab

Gene Symbol

Phactr3

Ensembl Gene

ENSMUSG00000027525

Gene Name

phosphatase and actin regulator 3

Synonyms

4930415A02Rik, 1500003N10Rik, scapinin

MMRRC Submission

045648-MU

Accession Numbers

Essential gene?

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

Stock #

R7798 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

177760768-177980285 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 177925703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 326 (R326H)

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: R285H

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

SMART Domains

Protein: ENSMUSP00000099354
Gene: ENSMUSG00000027525
AA Change: R285H

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: R325H

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

SMART Domains

Protein: ENSMUSP00000099355
Gene: ENSMUSG00000027525
AA Change: R325H

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 benign
Transcript: ENSMUST00000108915
AA Change: R326H

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000104543
Gene: ENSMUSG00000027525
AA Change: R326H

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 benign
Transcript: ENSMUST00000108916
AA Change: R321H

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000104544
Gene: ENSMUSG00000027525
AA Change: R321H

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 benign
Transcript: ENSMUST00000108917
AA Change: R321H

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104545
Gene: ENSMUSG00000027525
AA Change: R321H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	A	15: 79,019,932 (GRCm39)	N128I	probably damaging	Het
Abca13	A	G	11: 9,241,664 (GRCm39)	T1176A	probably benign	Het
Abca9	A	G	11: 110,029,005 (GRCm39)	V851A	probably benign	Het
Abcc6	C	A	7: 45,626,277 (GRCm39)	E1494*	probably null	Het
Adamts14	A	T	10: 61,106,952 (GRCm39)	V56E	probably damaging	Het
Adamts15	G	A	9: 30,815,939 (GRCm39)	T639M	probably damaging	Het
Albfm1	T	C	5: 90,745,370 (GRCm39)	S608P	possibly damaging	Het
Arhgap11a	A	C	2: 113,673,680 (GRCm39)	V70G	probably damaging	Het
BC051665	A	T	13: 60,932,249 (GRCm39)	D113E	probably benign	Het
Best1	T	C	19: 9,969,035 (GRCm39)	Y227C	probably damaging	Het
Camk2b	A	G	11: 5,928,399 (GRCm39)	S447P	probably benign	Het
Ccdc88a	C	A	11: 29,427,348 (GRCm39)	Q1018K	probably benign	Het
Cdhr17	T	C	5: 17,061,656 (GRCm39)	F801L	possibly damaging	Het
Cfap74	T	A	4: 155,507,079 (GRCm39)	V180D		Het
Clca3a1	T	A	3: 144,463,723 (GRCm39)	T185S	probably damaging	Het
Clca3b	T	C	3: 144,533,891 (GRCm39)	S495G	probably damaging	Het
Cyb5r2	A	T	7: 107,353,155 (GRCm39)	Y96N	possibly damaging	Het
Cyp21a1	T	C	17: 35,023,295 (GRCm39)	K27E	probably benign	Het
Cyp2ab1	T	C	16: 20,131,166 (GRCm39)	E321G	probably benign	Het
Des	T	C	1: 75,339,003 (GRCm39)	I228T	probably damaging	Het
Dis3l	G	T	9: 64,248,299 (GRCm39)	P39T	probably benign	Het
Disp2	A	C	2: 118,622,360 (GRCm39)	I1031L	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Etl4	G	A	2: 20,786,757 (GRCm39)		probably null	Het
Fgf23	A	T	6: 127,050,177 (GRCm39)	D62V	probably damaging	Het
Galnt15	C	T	14: 31,751,862 (GRCm39)	T138I	possibly damaging	Het
Ggt6	A	T	11: 72,326,367 (GRCm39)		probably benign	Het
Gpr180	T	A	14: 118,391,098 (GRCm39)	V209D	probably damaging	Het
Gzma	A	T	13: 113,232,858 (GRCm39)	F78Y	probably benign	Het
Igkv8-30	A	T	6: 70,094,355 (GRCm39)	C19S	probably benign	Het
Il1r1	G	A	1: 40,349,526 (GRCm39)	V361I	probably benign	Het
Intu	T	C	3: 40,646,359 (GRCm39)	V598A	probably damaging	Het
Itpr2	A	G	6: 146,287,513 (GRCm39)	F471L	probably benign	Het
Kntc1	T	A	5: 123,924,357 (GRCm39)	V1081E	probably benign	Het
Kntc1	T	A	5: 123,957,180 (GRCm39)	V2163E	possibly damaging	Het
Macf1	T	C	4: 123,271,893 (GRCm39)	K6552E	probably damaging	Het
Marf1	T	C	16: 13,956,315 (GRCm39)	H842R	probably benign	Het
Mgat4b	A	G	11: 50,116,497 (GRCm39)	T10A	possibly damaging	Het
Muc21	C	G	17: 35,932,146 (GRCm39)	G680A	unknown	Het
Muc5ac	T	C	7: 141,347,778 (GRCm39)		probably null	Het
Nrk	CGCAGCAGCAGCAGCAGCAGC	CGCAGCAGCAGCAGCAGC	X: 137,883,426 (GRCm39)		probably benign	Het
Nsun4	T	G	4: 115,908,371 (GRCm39)	S730R	possibly damaging	Het
Or12e1	A	T	2: 87,022,636 (GRCm39)	I202L	probably benign	Het
Or12k7	A	T	2: 36,959,186 (GRCm39)	S290C	probably damaging	Het
Or1n1	T	C	2: 36,750,348 (GRCm39)	E4G	probably benign	Het
Or4f6	A	G	2: 111,838,617 (GRCm39)	F305L	probably benign	Het
Or4k15	A	T	14: 50,364,895 (GRCm39)	Y287F	probably damaging	Het
Padi3	C	T	4: 140,513,750 (GRCm39)	E653K	probably benign	Het
Pde4a	A	G	9: 21,109,959 (GRCm39)	E280G	possibly damaging	Het
Prob1	G	A	18: 35,786,397 (GRCm39)	P619L	possibly damaging	Het
Ptk2	G	A	15: 73,167,224 (GRCm39)	R368W	probably damaging	Het
Rgs6	A	G	12: 83,116,293 (GRCm39)	T240A	probably benign	Het
Rpa1	A	T	11: 75,203,635 (GRCm39)	Y356N	probably damaging	Het
Rxrb	T	A	17: 34,252,579 (GRCm39)	D165E	probably damaging	Het
Sco1	A	G	11: 66,944,628 (GRCm39)	T84A	possibly damaging	Het
Sepsecs	T	C	5: 52,804,531 (GRCm39)	I380V	probably benign	Het
Sfmbt1	T	A	14: 30,538,759 (GRCm39)	W793R	probably damaging	Het
Slco3a1	A	G	7: 73,968,344 (GRCm39)	S459P	probably benign	Het
Smg1	A	T	7: 117,771,162 (GRCm39)	S1503R	possibly damaging	Het
Sox2	G	A	3: 34,704,791 (GRCm39)	R76H	probably damaging	Het
Spty2d1	G	A	7: 46,645,804 (GRCm39)	S613F	probably damaging	Het
Stab2	A	T	10: 86,793,776 (GRCm39)	Y440N	probably damaging	Het
Syn3	A	G	10: 85,916,117 (GRCm39)	Y290H	probably damaging	Het
Tex15	C	T	8: 34,071,875 (GRCm39)	S2474F	possibly damaging	Het
Tgtp1	A	G	11: 48,878,159 (GRCm39)	F182S	probably benign	Het
Tmcc1	A	T	6: 116,020,539 (GRCm39)	S304R		Het
Tmem130	T	G	5: 144,680,580 (GRCm39)	K275Q	probably damaging	Het
Tmem9	C	A	1: 135,961,927 (GRCm39)	T174K	probably damaging	Het
Ttyh3	C	T	5: 140,620,538 (GRCm39)	R233Q	probably damaging	Het
Tut7	A	T	13: 59,963,389 (GRCm39)	M323K	possibly damaging	Het
Twnk	T	C	19: 44,996,107 (GRCm39)	M180T	probably benign	Het
Ube4a	A	G	9: 44,844,629 (GRCm39)	V874A	probably damaging	Het
Ugt2a3	T	C	5: 87,475,582 (GRCm39)	N350S	probably damaging	Het
Vegfa	C	T	17: 46,342,761 (GRCm39)	G19D	probably damaging	Het
Vmn2r2	C	A	3: 64,041,518 (GRCm39)	C399F	possibly damaging	Het
Vmn2r65	G	T	7: 84,595,530 (GRCm39)	P385T	probably benign	Het
Vmn2r65	A	G	7: 84,596,192 (GRCm39)	F164S	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
R4772:Phactr3	UTSW	2	177,925,729 (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
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'- ATCCCAGGTTCCCTTCAAAG -3'
(R):5'- ATGATGGAGTCATTGAGCGC -3'

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

Posted On

2019-11-26