Mutagenetix > Incidental Mutation

Incidental Mutation 'R4796:Ppp1r10'

369097

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r10

Ensembl Gene

ENSMUSG00000039220

Gene Name

protein phosphatase 1, regulatory subunit 10

Synonyms

PNUTS, 2610025H06Rik, D17Ertd808e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4796 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36227404-36243175 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 36234979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 61 (I61R)

Ref Sequence

ENSEMBL: ENSMUSP00000138094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087210] [ENSMUST00000087211] [ENSMUST00000151664]

AlphaFold

Q80W00

Predicted Effect

probably damaging
Transcript: ENSMUST00000087210
AA Change: I53R

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

SMART Domains

Protein: ENSMUSP00000084460
Gene: ENSMUSG00000039220
AA Change: I53R

Domain	Start	End	E-Value	Type
TFS2N	74	146	2.23e-22	SMART
low complexity region	154	165	N/A	INTRINSIC
low complexity region	179	196	N/A	INTRINSIC
low complexity region	248	259	N/A	INTRINSIC
low complexity region	303	310	N/A	INTRINSIC
low complexity region	335	346	N/A	INTRINSIC
low complexity region	355	363	N/A	INTRINSIC
PDB:4MP0\|D	393	433	8e-22	PDB
low complexity region	502	517	N/A	INTRINSIC
low complexity region	540	552	N/A	INTRINSIC
low complexity region	566	578	N/A	INTRINSIC
low complexity region	621	639	N/A	INTRINSIC
low complexity region	644	759	N/A	INTRINSIC
low complexity region	781	812	N/A	INTRINSIC
low complexity region	815	853	N/A	INTRINSIC
ZnF_C3H1	855	881	5.76e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000087211
AA Change: I53R

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

SMART Domains

Protein: ENSMUSP00000084461
Gene: ENSMUSG00000039220
AA Change: I53R

Domain	Start	End	E-Value	Type
TFS2N	74	146	2.23e-22	SMART
low complexity region	154	165	N/A	INTRINSIC
low complexity region	179	196	N/A	INTRINSIC
low complexity region	248	259	N/A	INTRINSIC
low complexity region	303	310	N/A	INTRINSIC
low complexity region	335	346	N/A	INTRINSIC
low complexity region	355	363	N/A	INTRINSIC
PDB:4MP0\|D	393	433	8e-22	PDB
low complexity region	502	517	N/A	INTRINSIC
low complexity region	540	552	N/A	INTRINSIC
low complexity region	566	578	N/A	INTRINSIC
low complexity region	621	639	N/A	INTRINSIC
low complexity region	644	759	N/A	INTRINSIC
low complexity region	781	812	N/A	INTRINSIC
low complexity region	815	853	N/A	INTRINSIC
ZnF_C3H1	855	881	5.76e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151375

Predicted Effect

probably damaging
Transcript: ENSMUST00000151664
AA Change: I61R

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein phosphatase 1 binding protein. The encoded protein plays a role in many cellular processes including cell cycle progression, DNA repair and apoptosis by regulating the activity of protein phosphatase 1. This gene lies within the major histocompatibility complex class I region on chromosome 6, and alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,303,350 (GRCm39)	W132*	probably null	Het
Atp8b3	A	G	10: 80,360,188 (GRCm39)	V961A	probably damaging	Het
Bglap	A	C	3: 88,291,712 (GRCm39)	I4S	unknown	Het
Bmp1	T	C	14: 70,729,513 (GRCm39)		probably null	Het
Brd10	G	A	19: 29,731,018 (GRCm39)	H665Y	probably benign	Het
Btaf1	T	C	19: 36,933,828 (GRCm39)	L152P	possibly damaging	Het
Cacna1b	T	A	2: 24,527,499 (GRCm39)	T1621S	possibly damaging	Het
Capn3	A	T	2: 120,333,479 (GRCm39)	N621I	probably damaging	Het
Ccdc121rt3	A	G	5: 112,503,165 (GRCm39)	S180P	possibly damaging	Het
Ccdc59	T	C	10: 105,677,429 (GRCm39)	S23P	probably benign	Het
Cd22	A	T	7: 30,572,381 (GRCm39)		probably null	Het
Cdh20	A	G	1: 104,868,989 (GRCm39)	D160G	probably damaging	Het
Cep112	T	C	11: 108,377,818 (GRCm39)		probably null	Het
Clock	T	C	5: 76,413,763 (GRCm39)	K44R	probably damaging	Het
Coq10b	A	G	1: 55,110,957 (GRCm39)	T242A	probably damaging	Het
Cstdc2	A	G	2: 148,692,658 (GRCm39)	F48S	probably damaging	Het
Ctnnd1	G	T	2: 84,450,270 (GRCm39)	R317S	probably damaging	Het
Dlg5	G	A	14: 24,194,451 (GRCm39)	H1674Y	probably damaging	Het
Drc3	C	A	11: 60,254,354 (GRCm39)	N75K	probably damaging	Het
Efna4	T	C	3: 89,242,555 (GRCm39)	E113G	probably damaging	Het
Egr3	C	A	14: 70,315,024 (GRCm39)	A44D	probably benign	Het
Ercc3	T	C	18: 32,381,363 (GRCm39)	F393S	probably damaging	Het
Evi2	T	A	11: 79,406,273 (GRCm39)		probably benign	Het
Fam78b	T	C	1: 166,906,216 (GRCm39)	V125A	probably benign	Het
Fars2	A	T	13: 36,721,400 (GRCm39)	E448V	probably damaging	Het
Farsb	A	T	1: 78,401,833 (GRCm39)	*590R	probably null	Het
Fat3	A	G	9: 15,911,028 (GRCm39)	M1658T	probably benign	Het
Fhod3	G	T	18: 25,118,358 (GRCm39)	V232F	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fzd3	A	G	14: 65,472,607 (GRCm39)	V387A	possibly damaging	Het
Gm1527	A	G	3: 28,974,812 (GRCm39)	I542V	possibly damaging	Het
Gm7964	A	G	7: 83,405,109 (GRCm39)		probably null	Het
Hbs1l	G	T	10: 21,218,405 (GRCm39)	G301C	probably damaging	Het
Hipk4	A	G	7: 27,227,995 (GRCm39)	H247R	probably benign	Het
Hmcn1	A	G	1: 150,629,362 (GRCm39)	V965A	probably benign	Het
Hoxa5	C	T	6: 52,180,943 (GRCm39)	A130T	probably benign	Het
Igf2r	C	T	17: 12,903,013 (GRCm39)	V2346I	possibly damaging	Het
Igsf8	T	C	1: 172,143,889 (GRCm39)	V14A	probably benign	Het
Impg1	G	A	9: 80,301,377 (GRCm39)	P183L	probably damaging	Het
Isl1	T	C	13: 116,441,966 (GRCm39)	N89S	probably benign	Het
Itga1	C	A	13: 115,171,921 (GRCm39)	W61C	probably damaging	Het
Itga5	T	C	15: 103,256,187 (GRCm39)	R922G	probably benign	Het
Itgb5	T	C	16: 33,705,391 (GRCm39)	V227A	possibly damaging	Het
Jph4	G	T	14: 55,347,165 (GRCm39)	P461T	probably damaging	Het
Kcnab1	T	A	3: 65,211,586 (GRCm39)		probably null	Het
Klrc1	T	A	6: 129,654,725 (GRCm39)		probably null	Het
Lonrf2	A	T	1: 38,855,119 (GRCm39)	L92Q	probably benign	Het
Ly75	T	C	2: 60,180,284 (GRCm39)	E631G	probably benign	Het
Mapk13	T	C	17: 28,994,528 (GRCm39)	Y140H	probably damaging	Het
Meak7	A	T	8: 120,495,093 (GRCm39)	S222T	probably benign	Het
Mgat4d	A	G	8: 84,084,749 (GRCm39)	E164G	probably damaging	Het
Mrtfa	C	T	15: 80,901,234 (GRCm39)	S419N	probably damaging	Het
Mtcl2	A	G	2: 156,862,172 (GRCm39)	S1586P	probably benign	Het
Mthfs	A	T	9: 89,122,078 (GRCm39)	H188L	probably benign	Het
Muc5b	T	A	7: 141,417,983 (GRCm39)	M3643K	possibly damaging	Het
Mylk3	T	C	8: 86,077,014 (GRCm39)	Y474C	probably damaging	Het
Myo5b	A	G	18: 74,877,701 (GRCm39)	T1567A	possibly damaging	Het
Ncaph2	T	G	15: 89,255,010 (GRCm39)	V478G	probably damaging	Het
Ncbp1	A	G	4: 46,152,967 (GRCm39)	R247G	possibly damaging	Het
Nedd9	T	C	13: 41,471,376 (GRCm39)	K208E	probably benign	Het
Nxph2	C	T	2: 23,289,870 (GRCm39)	T74M	probably benign	Het
Ogdh	T	A	11: 6,290,570 (GRCm39)	M385K	probably benign	Het
Or10a5	A	T	7: 106,636,121 (GRCm39)	Y253F	probably benign	Het
Or3a1c	A	T	11: 74,046,417 (GRCm39)	I146F	probably benign	Het
Or4a2	T	C	2: 89,248,235 (GRCm39)	H174R	probably damaging	Het
Or6a2	C	T	7: 106,600,542 (GRCm39)	G175D	probably damaging	Het
Or7g18	T	C	9: 18,787,475 (GRCm39)	V284A	probably damaging	Het
Or8b54	T	A	9: 38,686,670 (GRCm39)	F40I	probably benign	Het
Pcsk2	A	C	2: 143,655,345 (GRCm39)	I510L	probably benign	Het
Pdgfra	A	G	5: 75,349,972 (GRCm39)	N952S	probably benign	Het
Pex26	T	C	6: 121,170,516 (GRCm39)	F287S	probably damaging	Het
Pick1	G	C	15: 79,139,810 (GRCm39)		probably benign	Het
Plxnb1	G	T	9: 108,943,663 (GRCm39)	V1917L	probably damaging	Het
Polk	T	C	13: 96,625,764 (GRCm39)	T347A	probably benign	Het
Prex1	A	T	2: 166,434,211 (GRCm39)	L503Q	probably damaging	Het
Ptp4a1	A	C	1: 30,983,019 (GRCm39)	I133R	probably damaging	Het
Rassf10	G	T	7: 112,553,735 (GRCm39)	R112L	probably damaging	Het
Ripor3	T	A	2: 167,823,260 (GRCm39)	I884F	probably damaging	Het
Rnft2	A	G	5: 118,339,311 (GRCm39)	Y369H	probably damaging	Het
Rtp3	A	T	9: 110,815,522 (GRCm39)	V281E	probably benign	Het
Runx1t1	T	A	4: 13,837,767 (GRCm39)	N51K	probably damaging	Het
Selp	A	G	1: 163,972,475 (GRCm39)	T705A	probably benign	Het
Sgca	A	T	11: 94,861,553 (GRCm39)		probably null	Het
Slc22a3	T	C	17: 12,642,675 (GRCm39)	E514G	probably damaging	Het
Slc28a2b	T	A	2: 122,344,940 (GRCm39)	I182N	probably damaging	Het
Slc2a1	G	A	4: 118,989,642 (GRCm39)	R61Q	probably damaging	Het
Smarcal1	G	A	1: 72,636,599 (GRCm39)	V425I	probably benign	Het
Ssx2ip	T	C	3: 146,124,114 (GRCm39)	V43A	probably benign	Het
Synpo	A	G	18: 60,737,386 (GRCm39)	S187P	probably damaging	Het
Thnsl1	T	A	2: 21,216,856 (GRCm39)	C203*	probably null	Het
Ttyh3	A	T	5: 140,620,541 (GRCm39)	I232N	probably damaging	Het
Upk1b	T	C	16: 38,607,604 (GRCm39)	H41R	probably benign	Het
Vmn2r76	T	C	7: 85,879,652 (GRCm39)	D216G	possibly damaging	Het
Zan	A	T	5: 137,379,112 (GRCm39)	C5329*	probably null	Het
Zbtb40	C	T	4: 136,725,953 (GRCm39)	M535I	probably benign	Het
Zfp383	A	C	7: 29,614,263 (GRCm39)	T173P	possibly damaging	Het
Zfp7	T	A	15: 76,775,546 (GRCm39)	C529*	probably null	Het

Other mutations in Ppp1r10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Ppp1r10	APN	17	36,235,751 (GRCm39)	missense	probably damaging	0.99
IGL01113:Ppp1r10	APN	17	36,240,451 (GRCm39)	missense	probably damaging	0.98
IGL01144:Ppp1r10	APN	17	36,237,456 (GRCm39)	missense	probably benign	0.28
IGL01650:Ppp1r10	APN	17	36,242,053 (GRCm39)	missense	unknown
IGL02445:Ppp1r10	APN	17	36,237,094 (GRCm39)	missense	probably damaging	1.00
IGL02715:Ppp1r10	APN	17	36,241,604 (GRCm39)	missense	unknown
IGL02797:Ppp1r10	APN	17	36,238,904 (GRCm39)	critical splice donor site	probably null
IGL03181:Ppp1r10	APN	17	36,241,516 (GRCm39)	nonsense	probably null
R1183:Ppp1r10	UTSW	17	36,240,335 (GRCm39)	missense	possibly damaging	0.56
R1710:Ppp1r10	UTSW	17	36,237,428 (GRCm39)	missense	probably damaging	0.96
R2166:Ppp1r10	UTSW	17	36,241,481 (GRCm39)	missense	unknown
R2865:Ppp1r10	UTSW	17	36,239,384 (GRCm39)	missense	possibly damaging	0.86
R2898:Ppp1r10	UTSW	17	36,239,784 (GRCm39)	missense	probably damaging	1.00
R3692:Ppp1r10	UTSW	17	36,241,760 (GRCm39)	missense	unknown
R4612:Ppp1r10	UTSW	17	36,238,823 (GRCm39)	missense	probably damaging	1.00
R4716:Ppp1r10	UTSW	17	36,240,352 (GRCm39)	missense	probably benign	0.16
R4997:Ppp1r10	UTSW	17	36,234,976 (GRCm39)	missense	probably damaging	1.00
R5152:Ppp1r10	UTSW	17	36,240,144 (GRCm39)	missense	probably damaging	1.00
R5186:Ppp1r10	UTSW	17	36,239,403 (GRCm39)	missense	probably damaging	1.00
R5364:Ppp1r10	UTSW	17	36,241,324 (GRCm39)	missense	unknown
R5705:Ppp1r10	UTSW	17	36,240,381 (GRCm39)	missense	probably damaging	1.00
R5847:Ppp1r10	UTSW	17	36,237,739 (GRCm39)	missense	possibly damaging	0.85
R6912:Ppp1r10	UTSW	17	36,240,453 (GRCm39)	missense	possibly damaging	0.70
R6974:Ppp1r10	UTSW	17	36,240,443 (GRCm39)	missense	probably benign	0.03
R7169:Ppp1r10	UTSW	17	36,240,365 (GRCm39)	missense	probably damaging	1.00
R7302:Ppp1r10	UTSW	17	36,241,773 (GRCm39)	missense	unknown
R7403:Ppp1r10	UTSW	17	36,240,326 (GRCm39)	missense	probably benign	0.05
R7427:Ppp1r10	UTSW	17	36,241,025 (GRCm39)	missense	possibly damaging	0.53
R8006:Ppp1r10	UTSW	17	36,239,158 (GRCm39)	missense	probably benign	0.00
R8850:Ppp1r10	UTSW	17	36,239,690 (GRCm39)	missense	probably damaging	0.97
R8944:Ppp1r10	UTSW	17	36,241,018 (GRCm39)	missense	probably benign	0.02
R9497:Ppp1r10	UTSW	17	36,235,786 (GRCm39)	missense	probably damaging	1.00
R9741:Ppp1r10	UTSW	17	36,237,331 (GRCm39)	missense	possibly damaging	0.55
Z1088:Ppp1r10	UTSW	17	36,241,659 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGAGATTAGCTGGCATGGC -3'
(R):5'- ATATGTTAGCCAGTTGTTCAGAAGC -3'

Sequencing Primer
(F):5'- ATGGCGCCCTCTCTGTG -3'
(R):5'- CAGTTGTTCAGAAGCTTGTAGCCAC -3'

Posted On

2016-02-04