Mutagenetix > Incidental Mutation

Incidental Mutation 'R5935:Ppp4r3a'

462207

Institutional Source

Beutler Lab

Gene Symbol

Ppp4r3a

Ensembl Gene

ENSMUSG00000041846

Gene Name

protein phosphatase 4 regulatory subunit 3A

Synonyms

1110034C04Rik, Smek1

MMRRC Submission

044129-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.351) question?

Stock #

R5935 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101005668-101049961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101017872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 439 (D439V)

Ref Sequence

ENSEMBL: ENSMUSP00000129654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048305] [ENSMUST00000163095] [ENSMUST00000223091]

AlphaFold

Q6P2K6

Predicted Effect

probably damaging
Transcript: ENSMUST00000048305
AA Change: D426V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041667
Gene: ENSMUSG00000041846
AA Change: D426V

Domain	Start	End	E-Value	Type
SCOP:d1k5db_	7	96	3e-24	SMART
Pfam:SMK-1	164	357	5.8e-85	PFAM
low complexity region	407	418	N/A	INTRINSIC
low complexity region	495	503	N/A	INTRINSIC
low complexity region	705	720	N/A	INTRINSIC
low complexity region	753	770	N/A	INTRINSIC
low complexity region	795	808	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163095
AA Change: D439V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129654
Gene: ENSMUSG00000041846
AA Change: D439V

Domain	Start	End	E-Value	Type
SCOP:d1k5db_	7	96	4e-24	SMART
Pfam:SMK-1	166	357	2.5e-84	PFAM
low complexity region	508	516	N/A	INTRINSIC
low complexity region	718	733	N/A	INTRINSIC
low complexity region	766	783	N/A	INTRINSIC
low complexity region	808	821	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222956

Predicted Effect

probably benign
Transcript: ENSMUST00000223091

Meta Mutation Damage Score

0.8429

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

96% (92/96)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	C	G	8: 43,974,335 (GRCm39)	M222I	probably benign	Het
Ahnak	T	C	19: 8,992,546 (GRCm39)	V4610A	possibly damaging	Het
Ankrd13c	C	T	3: 157,653,220 (GRCm39)		silent	Het
Cables2	A	G	2: 179,903,841 (GRCm39)		probably benign	Het
Cabp2	C	A	19: 4,136,497 (GRCm39)	A181D	probably damaging	Het
Camsap3	A	G	8: 3,651,999 (GRCm39)	D265G	probably damaging	Het
Cbs	G	T	17: 31,851,853 (GRCm39)	T50N	probably damaging	Het
Cenpa	A	T	5: 30,830,381 (GRCm39)	Q83L	possibly damaging	Het
Cit	A	T	5: 116,063,598 (GRCm39)		probably benign	Het
Ckap5	A	G	2: 91,445,445 (GRCm39)	E1694G	possibly damaging	Het
Copz1	A	T	15: 103,203,197 (GRCm39)	M104L	probably benign	Het
Crot	T	A	5: 9,024,192 (GRCm39)	M335L	probably benign	Het
Ctnna2	T	C	6: 77,120,904 (GRCm39)	D373G	probably benign	Het
Ctu2	G	A	8: 123,203,693 (GRCm39)		probably benign	Het
Cyp3a59	T	A	5: 146,027,455 (GRCm39)	Y75*	probably null	Het
Dbi	A	G	1: 120,048,583 (GRCm39)	I21T	probably benign	Het
Dcun1d3	A	G	7: 119,458,799 (GRCm39)	S79P	probably benign	Het
Dock10	T	A	1: 80,483,304 (GRCm39)		probably benign	Het
Dstyk	T	A	1: 132,381,875 (GRCm39)	I543N	probably damaging	Het
Epx	G	T	11: 87,756,318 (GRCm39)	A621E	probably damaging	Het
Farp2	G	A	1: 93,548,367 (GRCm39)		probably null	Het
Gm11992	C	T	11: 9,002,711 (GRCm39)	P25S	probably damaging	Het
Grik5	A	T	7: 24,758,502 (GRCm39)	M307K	possibly damaging	Het
Hnf1b	A	T	11: 83,773,503 (GRCm39)	N234I	probably damaging	Het
Htr2a	A	G	14: 74,882,530 (GRCm39)	D172G	probably damaging	Het
Ifit1bl2	T	C	19: 34,597,128 (GRCm39)	T163A	probably benign	Het
Igsf10	A	T	3: 59,235,578 (GRCm39)	D1534E	probably benign	Het
Il3ra	T	G	14: 14,350,799 (GRCm38)	V178G	probably damaging	Het
Itgb1	A	T	8: 129,439,718 (GRCm39)	K136*	probably null	Het
Itprid1	A	T	6: 55,874,754 (GRCm39)	R235*	probably null	Het
Lama2	T	A	10: 26,891,494 (GRCm39)	I2540F	probably benign	Het
Lrp8	C	A	4: 107,714,493 (GRCm39)	H622Q	probably damaging	Het
Lrrc2	T	A	9: 110,795,629 (GRCm39)	M138K	probably benign	Het
Lrrk2	C	A	15: 91,630,034 (GRCm39)	H1242N	probably benign	Het
Lsm11	G	C	11: 45,835,445 (GRCm39)	R99G	probably benign	Het
Mif4gd	C	T	11: 115,500,439 (GRCm39)	V40M	probably benign	Het
Mpp3	A	T	11: 101,916,241 (GRCm39)	V37D	probably damaging	Het
Mre11a	T	A	9: 14,698,258 (GRCm39)	D35E	probably damaging	Het
Mroh4	C	A	15: 74,493,003 (GRCm39)	V233F	probably damaging	Het
Npy2r	A	T	3: 82,448,068 (GRCm39)	S123T	possibly damaging	Het
Nrip2	A	G	6: 128,385,361 (GRCm39)	Y264C	possibly damaging	Het
Obscn	A	G	11: 58,897,639 (GRCm39)	S6639P	unknown	Het
Or10d4	C	T	9: 39,580,386 (GRCm39)	T11I	probably benign	Het
Or51t4	T	A	7: 102,598,017 (GRCm39)	F105Y	probably benign	Het
Osbpl5	C	T	7: 143,310,695 (GRCm39)		probably benign	Het
Panx1	A	T	9: 14,921,513 (GRCm39)	Y121N	probably damaging	Het
Pcdhb8	A	G	18: 37,489,243 (GRCm39)	D307G	probably damaging	Het
Pde1b	A	G	15: 103,429,866 (GRCm39)	K120E	possibly damaging	Het
Pdzrn4	T	C	15: 92,295,255 (GRCm39)	S154P	probably benign	Het
Ppp1r13b	T	C	12: 111,796,876 (GRCm39)	K889R	probably benign	Het
Ptk2b	A	G	14: 66,411,328 (GRCm39)	I401T	probably damaging	Het
Rab24	T	C	13: 55,468,343 (GRCm39)	T153A	probably damaging	Het
Rarb	C	A	14: 16,434,264 (GRCm38)	A305S	probably damaging	Het
Rc3h2	GCC	GCCC	2: 37,304,745 (GRCm39)		probably null	Het
Scn10a	G	A	9: 119,456,237 (GRCm39)	T1194I	probably damaging	Het
Scn3a	G	T	2: 65,295,180 (GRCm39)	N1514K	probably damaging	Het
Serpinb3d	T	C	1: 107,011,105 (GRCm39)	T36A	probably benign	Het
Shisa5	T	A	9: 108,885,751 (GRCm39)	M229K	possibly damaging	Het
Sik2	C	T	9: 50,828,431 (GRCm39)	G204R	probably damaging	Het
Sla	C	T	15: 66,665,554 (GRCm39)	G46E	probably damaging	Het
Slc35g3	A	T	11: 69,652,509 (GRCm39)	M1K	probably null	Het
Slc5a7	A	T	17: 54,583,972 (GRCm39)	Y439*	probably null	Het
Slc9a1	T	C	4: 133,147,176 (GRCm39)		probably benign	Het
Slitrk6	T	G	14: 110,987,305 (GRCm39)	T801P	probably benign	Het
Spata31d1c	T	C	13: 65,184,894 (GRCm39)	V812A	possibly damaging	Het
Spata31g1	T	C	4: 42,971,465 (GRCm39)	L230P	probably benign	Het
Spef1l	G	A	7: 139,556,526 (GRCm39)	H154Y	probably benign	Het
Sphkap	A	C	1: 83,317,320 (GRCm39)	L59R	probably damaging	Het
Spmip8	A	T	8: 96,046,620 (GRCm39)	T98S	possibly damaging	Het
Srsf10	C	A	4: 135,583,553 (GRCm39)	R6S	probably damaging	Het
Supt5	T	A	7: 28,028,900 (GRCm39)	R131S	probably benign	Het
Syne1	T	C	10: 5,310,706 (GRCm39)		probably null	Het
Tet2	T	A	3: 133,194,296 (GRCm39)	H46L	possibly damaging	Het
Tnfsf4	T	A	1: 161,244,819 (GRCm39)	N169K	probably damaging	Het
Tprg1	A	T	16: 25,136,011 (GRCm39)	M1L	possibly damaging	Het
Tsen2	A	G	6: 115,536,556 (GRCm39)	Y104C	probably damaging	Het
Ttc6	A	G	12: 57,720,590 (GRCm39)	Y952C	probably damaging	Het
Umod	A	T	7: 119,070,650 (GRCm39)	I414N	probably damaging	Het
Usp10	G	T	8: 120,673,828 (GRCm39)	V398L	possibly damaging	Het
Vmn2r23	A	T	6: 123,718,854 (GRCm39)	I736F	possibly damaging	Het
Vmn2r65	C	A	7: 84,592,869 (GRCm39)	G446V	probably benign	Het
Wbp1l	C	T	19: 46,642,619 (GRCm39)	R191*	probably null	Het
Yars2	A	G	16: 16,127,335 (GRCm39)	I467V	probably benign	Het
Ykt6	A	G	11: 5,909,338 (GRCm39)	E49G	possibly damaging	Het
Zan	T	A	5: 137,442,192 (GRCm39)	M1907L	unknown	Het
Zdhhc2	T	C	8: 40,917,277 (GRCm39)	S225P	probably damaging	Het
Zfc3h1	A	T	10: 115,267,262 (GRCm39)		probably benign	Het

Other mutations in Ppp4r3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Ppp4r3a	APN	12	101,016,053 (GRCm39)	missense	probably damaging	1.00
IGL00532:Ppp4r3a	APN	12	101,010,912 (GRCm39)	missense	probably damaging	1.00
IGL01359:Ppp4r3a	APN	12	101,024,755 (GRCm39)	missense	probably damaging	0.99
IGL01873:Ppp4r3a	APN	12	101,008,094 (GRCm39)	missense	possibly damaging	0.86
IGL02676:Ppp4r3a	APN	12	101,008,770 (GRCm39)	missense	probably benign	0.00
IGL02756:Ppp4r3a	APN	12	101,024,582 (GRCm39)	critical splice donor site	probably null
IGL03196:Ppp4r3a	APN	12	101,015,913 (GRCm39)	splice site	probably benign
IGL03206:Ppp4r3a	APN	12	101,024,878 (GRCm39)	missense	probably damaging	1.00
R1101:Ppp4r3a	UTSW	12	101,017,830 (GRCm39)	missense	probably damaging	0.98
R1434:Ppp4r3a	UTSW	12	101,009,783 (GRCm39)	missense	probably damaging	0.99
R1526:Ppp4r3a	UTSW	12	101,007,000 (GRCm39)	missense	probably damaging	0.99
R1554:Ppp4r3a	UTSW	12	101,022,081 (GRCm39)	missense	probably damaging	1.00
R1650:Ppp4r3a	UTSW	12	101,010,878 (GRCm39)	missense	probably damaging	0.99
R1766:Ppp4r3a	UTSW	12	101,024,741 (GRCm39)	missense	probably damaging	0.99
R2152:Ppp4r3a	UTSW	12	101,008,826 (GRCm39)	missense	probably damaging	0.99
R2322:Ppp4r3a	UTSW	12	101,008,878 (GRCm39)	missense	probably damaging	0.98
R2421:Ppp4r3a	UTSW	12	101,008,912 (GRCm39)	splice site	probably benign
R2422:Ppp4r3a	UTSW	12	101,008,912 (GRCm39)	splice site	probably benign
R2859:Ppp4r3a	UTSW	12	101,008,906 (GRCm39)	critical splice acceptor site	probably null
R2884:Ppp4r3a	UTSW	12	101,034,936 (GRCm39)	missense	probably damaging	0.99
R4157:Ppp4r3a	UTSW	12	101,021,878 (GRCm39)	missense	probably damaging	0.97
R4651:Ppp4r3a	UTSW	12	101,049,170 (GRCm39)	utr 5 prime	probably benign
R4652:Ppp4r3a	UTSW	12	101,049,170 (GRCm39)	utr 5 prime	probably benign
R4706:Ppp4r3a	UTSW	12	101,008,175 (GRCm39)	missense	probably damaging	1.00
R4773:Ppp4r3a	UTSW	12	101,049,026 (GRCm39)	missense	possibly damaging	0.93
R4775:Ppp4r3a	UTSW	12	101,019,825 (GRCm39)	missense	probably damaging	0.99
R5467:Ppp4r3a	UTSW	12	101,009,729 (GRCm39)	missense	probably damaging	0.99
R5634:Ppp4r3a	UTSW	12	101,009,780 (GRCm39)	missense	probably damaging	1.00
R5704:Ppp4r3a	UTSW	12	101,049,619 (GRCm39)	utr 5 prime	probably benign
R5707:Ppp4r3a	UTSW	12	101,024,770 (GRCm39)	missense	probably damaging	1.00
R5969:Ppp4r3a	UTSW	12	101,009,838 (GRCm39)	missense	probably benign
R6030:Ppp4r3a	UTSW	12	101,024,659 (GRCm39)	missense	probably damaging	0.97
R6030:Ppp4r3a	UTSW	12	101,024,659 (GRCm39)	missense	probably damaging	0.97
R6630:Ppp4r3a	UTSW	12	101,016,035 (GRCm39)	missense	probably damaging	1.00
R7265:Ppp4r3a	UTSW	12	101,019,770 (GRCm39)	missense	possibly damaging	0.77
R7352:Ppp4r3a	UTSW	12	101,008,091 (GRCm39)	missense	probably damaging	1.00
R7402:Ppp4r3a	UTSW	12	101,025,053 (GRCm39)	missense	possibly damaging	0.94
R7761:Ppp4r3a	UTSW	12	101,022,080 (GRCm39)	missense	probably damaging	0.98
R7808:Ppp4r3a	UTSW	12	101,019,755 (GRCm39)	missense	possibly damaging	0.94
R7811:Ppp4r3a	UTSW	12	101,019,821 (GRCm39)	missense	probably damaging	0.98
R8062:Ppp4r3a	UTSW	12	101,008,230 (GRCm39)	missense	probably damaging	0.98
R8222:Ppp4r3a	UTSW	12	101,008,164 (GRCm39)	missense	probably benign	0.09
R8409:Ppp4r3a	UTSW	12	101,008,752 (GRCm39)	missense	probably benign	0.02
R8435:Ppp4r3a	UTSW	12	101,049,048 (GRCm39)	missense	probably benign	0.19
R8471:Ppp4r3a	UTSW	12	101,021,901 (GRCm39)	missense	probably benign	0.01
R9010:Ppp4r3a	UTSW	12	101,024,591 (GRCm39)	missense	possibly damaging	0.58
R9137:Ppp4r3a	UTSW	12	101,021,794 (GRCm39)	missense	possibly damaging	0.95
R9335:Ppp4r3a	UTSW	12	101,007,013 (GRCm39)	missense	probably damaging	1.00
R9336:Ppp4r3a	UTSW	12	101,015,919 (GRCm39)	missense	probably benign
R9666:Ppp4r3a	UTSW	12	101,049,129 (GRCm39)	start codon destroyed	probably null	0.39
R9752:Ppp4r3a	UTSW	12	101,008,763 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAGTGCTTGTAGAAGAAACCCAG -3'
(R):5'- ACTGTCTTTGAACTACCCATCAGG -3'

Sequencing Primer
(F):5'- GCTTGTAGAAGAAACCCAGAAATTC -3'
(R):5'- GGGAAAAGAGAAACTTCCATCTATC -3'

Posted On

2017-02-28