Mutagenetix > Incidental Mutation

Incidental Mutation 'R7340:Phactr3'

569748

Institutional Source

Beutler Lab

Gene Symbol

Phactr3

Ensembl Gene

ENSMUSG00000027525

Gene Name

phosphatase and actin regulator 3

Synonyms

4930415A02Rik, 1500003N10Rik, scapinin

MMRRC Submission

045430-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R7340 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

177760768-177980285 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 177975854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 533 (R533H)

Ref Sequence

ENSEMBL: ENSMUSP00000104543 (fasta)

Gene Model

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

AlphaFold

Q8BYK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000103065
AA Change: R492H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099354
Gene: ENSMUSG00000027525
AA Change: R492H

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: R532H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099355
Gene: ENSMUSG00000027525
AA Change: R532H

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: R533H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104543
Gene: ENSMUSG00000027525
AA Change: R533H

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: R528H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104544
Gene: ENSMUSG00000027525
AA Change: R528H

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: R527H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104545
Gene: ENSMUSG00000027525
AA Change: R527H

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

0.3376

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Adam30	A	T	3: 98,069,637 (GRCm39)	N490I	probably benign	Het
Ankrd55	A	T	13: 112,492,497 (GRCm39)	I223F	probably damaging	Het
Ano8	T	A	8: 71,935,655 (GRCm39)	E321V	probably damaging	Het
Apc2	A	G	10: 80,149,316 (GRCm39)	K1457E	probably benign	Het
Asb15	T	A	6: 24,558,513 (GRCm39)	V38E	probably benign	Het
Atp4a	T	C	7: 30,416,155 (GRCm39)	S417P	possibly damaging	Het
AY358078	A	G	14: 52,063,716 (GRCm39)	N454S	probably damaging	Het
Cables2	A	G	2: 179,903,450 (GRCm39)	Y245H		Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Camsap3	G	A	8: 3,637,960 (GRCm39)		probably null	Het
Ccdc178	A	T	18: 22,150,518 (GRCm39)	V705E	probably benign	Het
Ccdc47	T	C	11: 106,091,799 (GRCm39)	Q472R	possibly damaging	Het
Ccdc62	A	G	5: 124,089,283 (GRCm39)	D307G	probably damaging	Het
Cdcp3	A	G	7: 130,879,344 (GRCm39)	T1788A	unknown	Het
Cdh23	A	G	10: 60,366,775 (GRCm39)	I235T	probably benign	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cfap65	T	C	1: 74,960,742 (GRCm39)	N743D	probably benign	Het
Cimap1b	T	A	15: 89,262,610 (GRCm39)	T116S	probably benign	Het
Clec16a	A	G	16: 10,398,827 (GRCm39)	N329S	probably null	Het
Col25a1	A	G	3: 130,340,006 (GRCm39)		probably null	Het
Daam1	T	G	12: 72,035,713 (GRCm39)	D969E	probably benign	Het
Dntt	A	C	19: 41,047,004 (GRCm39)		probably null	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Dst	T	A	1: 34,229,810 (GRCm39)	Y2468N	probably benign	Het
Exosc9	A	G	3: 36,615,297 (GRCm39)	T262A	possibly damaging	Het
Exph5	G	A	9: 53,288,309 (GRCm39)	A1797T	probably damaging	Het
Fbp2	A	T	13: 62,985,061 (GRCm39)	Y287N	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Fus	T	A	7: 127,581,123 (GRCm39)		probably null	Het
Galnt9	T	A	5: 110,762,054 (GRCm39)	N397K	probably damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gga1	A	G	15: 78,775,651 (GRCm39)	T369A	probably benign	Het
Gp1ba	T	C	11: 70,531,119 (GRCm39)	I295T	unknown	Het
Hk2	T	C	6: 82,705,873 (GRCm39)	E810G	probably benign	Het
Igsf10	A	G	3: 59,233,189 (GRCm39)	V1848A	probably damaging	Het
Insrr	G	A	3: 87,721,623 (GRCm39)		probably null	Het
Ip6k3	T	A	17: 27,367,504 (GRCm39)	M231L	probably benign	Het
Itgb8	T	C	12: 119,155,939 (GRCm39)	N171S	probably benign	Het
Ldlrad3	T	C	2: 101,897,184 (GRCm39)		probably null	Het
Ltbp1	T	A	17: 75,634,223 (GRCm39)	C886*	probably null	Het
Mettl13	T	C	1: 162,366,547 (GRCm39)	D444G	probably benign	Het
Mns1	A	G	9: 72,356,025 (GRCm39)	Y224C	probably damaging	Het
Mri1	C	T	8: 84,983,525 (GRCm39)	R122Q	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo5c	A	C	9: 75,196,423 (GRCm39)	K1290Q	probably benign	Het
Nlrp12	T	G	7: 3,281,755 (GRCm39)	Q842H	possibly damaging	Het
Oga	G	A	19: 45,755,895 (GRCm39)	Q583*	probably null	Het
Or14c44	T	C	7: 86,061,957 (GRCm39)	L129P	possibly damaging	Het
Or14j8	T	A	17: 38,263,413 (GRCm39)	R167S	probably benign	Het
Or2t1	A	T	14: 14,328,401 (GRCm38)	T97S	possibly damaging	Het
Or5d39	T	C	2: 87,979,620 (GRCm39)	T248A	possibly damaging	Het
Otoa	A	G	7: 120,729,288 (GRCm39)	T554A	probably benign	Het
Per1	A	G	11: 68,994,008 (GRCm39)	D438G	probably damaging	Het
Phykpl	T	C	11: 51,490,370 (GRCm39)	F417S	probably damaging	Het
Pole	A	T	5: 110,482,330 (GRCm39)	T2057S	probably benign	Het
Polq	A	G	16: 36,881,288 (GRCm39)	T1151A	probably benign	Het
Polr1g	T	C	7: 19,093,073 (GRCm39)	T36A	probably benign	Het
Rbm26	A	T	14: 105,389,976 (GRCm39)	V216E	possibly damaging	Het
Ryk	T	C	9: 102,775,737 (GRCm39)	I449T	probably damaging	Het
Sap25	A	G	5: 137,640,935 (GRCm39)	T225A	probably benign	Het
Sart3	A	G	5: 113,882,728 (GRCm39)	M864T	probably benign	Het
Sec31b	T	C	19: 44,517,161 (GRCm39)	S280G	probably benign	Het
Sema4d	A	T	13: 51,877,598 (GRCm39)	I78N	probably damaging	Het
Sgip1	G	C	4: 102,778,661 (GRCm39)	R419S	unknown	Het
Slc13a3	T	C	2: 165,272,210 (GRCm39)	I278V	probably benign	Het
Slc2a5	A	G	4: 150,224,439 (GRCm39)	D312G	probably benign	Het
Slc39a2	A	T	14: 52,131,660 (GRCm39)	Q77L	possibly damaging	Het
Srbd1	A	T	17: 86,443,782 (GRCm39)	V148E	probably benign	Het
Syngr2	A	G	11: 117,703,322 (GRCm39)	E46G	probably damaging	Het
Taok1	A	G	11: 77,470,643 (GRCm39)	V54A	possibly damaging	Het
Tas2r106	T	A	6: 131,655,185 (GRCm39)	H222L	probably damaging	Het
Tcaf3	A	G	6: 42,566,848 (GRCm39)	I747T	probably benign	Het
Tmem151b	G	T	17: 45,856,195 (GRCm39)	P415Q	probably benign	Het
Tmf1	T	C	6: 97,145,061 (GRCm39)	D659G	possibly damaging	Het
Tnn	G	T	1: 159,973,592 (GRCm39)	D258E	probably damaging	Het
Traj33	A	G	14: 54,422,862 (GRCm39)	I16V	unknown	Het
Ttll13	G	T	7: 79,906,772 (GRCm39)	C480F	probably damaging	Het
Ttn	T	C	2: 76,714,415 (GRCm39)	N8137S	unknown	Het
Vmn1r85	T	C	7: 12,819,073 (GRCm39)	N24D	probably damaging	Het
Wdr81	T	C	11: 75,335,525 (GRCm39)	Q649R	probably null	Het
Zan	T	C	5: 137,382,092 (GRCm39)	T5152A	unknown	Het
Zc3h6	A	G	2: 128,835,110 (GRCm39)	D82G	possibly 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
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'- GCAAGTCTGTGTTAGGCTCAC -3'
(R):5'- AATGGAGAGTGGTTTTGCATCAATG -3'

Sequencing Primer
(F):5'- GCTCACCTACTAGTGCAGGAAG -3'
(R):5'- TACCTAAGAAAAACCTGAGTTGAGAC -3'

Posted On

2019-09-13