Mutagenetix > Incidental Mutation

Incidental Mutation 'R4716:Ppp1r10'

354084

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r10

Ensembl Gene

ENSMUSG00000039220

Gene Name

protein phosphatase 1, regulatory subunit 10

Synonyms

PNUTS, 2610025H06Rik, D17Ertd808e

MMRRC Submission

041983-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36227404-36243175 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36240352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 547 (D547E)

Ref Sequence

ENSEMBL: ENSMUSP00000084461 (fasta)

Gene Model

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

AlphaFold

Q80W00

Predicted Effect

probably benign
Transcript: ENSMUST00000087210
AA Change: D547E

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000084460
Gene: ENSMUSG00000039220
AA Change: D547E

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 benign
Transcript: ENSMUST00000087211
AA Change: D547E

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000084461
Gene: ENSMUSG00000039220
AA Change: D547E

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,471,088 (GRCm39)	R578*	probably null	Het
Adam8	T	A	7: 139,563,851 (GRCm39)	D717V	probably benign	Het
Aknad1	T	C	3: 108,682,417 (GRCm39)		probably null	Het
Alk	A	T	17: 72,512,937 (GRCm39)	W341R	probably damaging	Het
Ankdd1b	G	A	13: 96,591,091 (GRCm39)	Q101*	probably null	Het
Anpep	A	C	7: 79,476,380 (GRCm39)	S829A	probably benign	Het
Armh3	A	G	19: 45,948,781 (GRCm39)	S233P	probably damaging	Het
Ate1	A	T	7: 130,115,511 (GRCm39)	C72S	probably damaging	Het
Atp6v0a4	G	A	6: 38,037,999 (GRCm39)	L533F	probably damaging	Het
Bach1	T	C	16: 87,512,267 (GRCm39)		probably benign	Het
Baz2b	T	C	2: 59,799,599 (GRCm39)	D240G	probably benign	Het
Cdc14b	C	T	13: 64,357,014 (GRCm39)	S21N	probably damaging	Het
Cdh3	A	G	8: 107,270,520 (GRCm39)	I466V	probably benign	Het
Cog1	A	G	11: 113,547,923 (GRCm39)	E137G	probably damaging	Het
Col4a2	A	G	8: 11,452,224 (GRCm39)	D180G	probably damaging	Het
Cyp2c40	A	T	19: 39,791,105 (GRCm39)		probably null	Het
Dclk2	C	T	3: 86,827,188 (GRCm39)	R97H	probably damaging	Het
Ddx52	T	C	11: 83,846,031 (GRCm39)		probably null	Het
Dhx58	C	T	11: 100,587,797 (GRCm39)		probably null	Het
Dmp1	T	A	5: 104,360,427 (GRCm39)	S368T	probably damaging	Het
Dnah17	C	A	11: 117,964,474 (GRCm39)	V2435L	probably benign	Het
Dnajc7	A	G	11: 100,510,402 (GRCm39)	V10A	probably benign	Het
Dscam	G	T	16: 96,420,771 (GRCm39)	T1705K	possibly damaging	Het
Dscaml1	G	A	9: 45,361,890 (GRCm39)	V217M	probably damaging	Het
Dync2h1	A	G	9: 7,142,648 (GRCm39)		probably null	Het
F5	A	G	1: 164,021,488 (GRCm39)	D1321G	probably damaging	Het
Fam174a	C	T	1: 95,241,770 (GRCm39)	P77S	probably benign	Het
Fars2	G	A	13: 36,389,051 (GRCm39)	R180H	probably damaging	Het
Fnbp1	T	C	2: 30,945,532 (GRCm39)	T154A	probably benign	Het
Fsip2	T	A	2: 82,805,203 (GRCm39)	N507K	probably damaging	Het
Glg1	G	T	8: 111,887,407 (GRCm39)	Y449*	probably null	Het
Gm15130	A	T	2: 110,964,560 (GRCm39)	Y187*	probably null	Het
Gm973	A	T	1: 59,591,713 (GRCm39)	K366*	probably null	Het
H2bc11	T	A	13: 22,227,533 (GRCm39)	V45E	possibly damaging	Het
Hao1	A	G	2: 134,347,540 (GRCm39)	I255T	probably damaging	Het
Herc6	T	A	6: 57,575,423 (GRCm39)	V148E	probably damaging	Het
Insm2	T	A	12: 55,647,677 (GRCm39)	C474S	possibly damaging	Het
Itch	T	C	2: 155,052,502 (GRCm39)		probably null	Het
Itga2	A	G	13: 114,993,909 (GRCm39)	V748A	probably damaging	Het
Itga9	T	A	9: 118,510,826 (GRCm39)	S452T	probably damaging	Het
Kdm4b	C	A	17: 56,693,178 (GRCm39)	D338E	probably benign	Het
Krt40	G	A	11: 99,431,045 (GRCm39)	R155C	probably damaging	Het
Krtap16-1	A	G	11: 99,876,000 (GRCm39)	V468A	probably damaging	Het
Lactb2	G	A	1: 13,708,619 (GRCm39)	P143L	probably damaging	Het
Lrba	C	A	3: 86,550,021 (GRCm39)	T2330K	probably damaging	Het
Lrp2bp	A	T	8: 46,466,208 (GRCm39)	I106F	probably benign	Het
Luzp2	A	G	7: 54,485,710 (GRCm39)	K2E	probably damaging	Het
Lypd6	T	C	2: 50,078,855 (GRCm39)		probably null	Het
Maml1	A	T	11: 50,148,694 (GRCm39)	D1015E	probably benign	Het
Mdfi	T	G	17: 48,131,906 (GRCm39)	D106A	possibly damaging	Het
Olfm3	T	C	3: 114,874,755 (GRCm39)	M17T	probably benign	Het
Or2n1d	A	C	17: 38,646,731 (GRCm39)	I228L	possibly damaging	Het
Or2o1	A	G	11: 49,051,717 (GRCm39)	Y292C	probably damaging	Het
Or8c16	T	A	9: 38,130,714 (GRCm39)	N198K	probably damaging	Het
Or8g30	A	G	9: 39,230,725 (GRCm39)	F62L	probably benign	Het
Otud7b	T	G	3: 96,058,227 (GRCm39)	L261V	probably damaging	Het
P2ry1	A	G	3: 60,910,893 (GRCm39)	N11D	probably damaging	Het
Pate2	T	C	9: 35,596,978 (GRCm39)		probably benign	Het
Pcdhb16	A	T	18: 37,612,458 (GRCm39)	T473S	probably benign	Het
Per1	A	G	11: 68,992,057 (GRCm39)	E137G	probably damaging	Het
Phf11d	T	C	14: 59,590,791 (GRCm39)	T189A	probably benign	Het
Pik3r5	C	A	11: 68,386,030 (GRCm39)	S738R	possibly damaging	Het
Pikfyve	A	G	1: 65,285,635 (GRCm39)	Y913C	possibly damaging	Het
Pkd1	T	G	17: 24,795,107 (GRCm39)	S2265A	probably damaging	Het
Pkhd1l1	C	A	15: 44,419,428 (GRCm39)	N2964K	probably damaging	Het
Plch1	T	G	3: 63,688,967 (GRCm39)	D79A	probably damaging	Het
Pnliprp1	A	C	19: 58,728,901 (GRCm39)	T363P	possibly damaging	Het
Prkdc	T	A	16: 15,628,701 (GRCm39)	I3482K	probably benign	Het
Ptpn4	A	G	1: 119,649,598 (GRCm39)	Y333H	probably damaging	Het
Ptpru	T	A	4: 131,548,279 (GRCm39)	M73L	probably benign	Het
Rrp12	A	G	19: 41,865,867 (GRCm39)	Y698H	probably damaging	Het
Scaf8	T	C	17: 3,227,398 (GRCm39)	F338L	unknown	Het
Slc17a1	G	T	13: 24,064,576 (GRCm39)	V347L	probably benign	Het
Slc1a2	T	A	2: 102,578,883 (GRCm39)	V263E	probably damaging	Het
Slc29a4	T	C	5: 142,704,327 (GRCm39)	V327A	probably benign	Het
Slc6a3	A	C	13: 73,705,195 (GRCm39)	I229L	probably benign	Het
Sos2	T	C	12: 69,654,145 (GRCm39)	I703V	probably benign	Het
Srpk1	T	C	17: 28,840,982 (GRCm39)	T15A	probably benign	Het
St6gal2	A	T	17: 55,817,367 (GRCm39)	Q510L	probably benign	Het
Stk24	T	C	14: 121,532,130 (GRCm39)	D289G	possibly damaging	Het
Taf2	T	G	15: 54,929,364 (GRCm39)	K64T	probably benign	Het
Tbx3	A	G	5: 119,813,735 (GRCm39)	E257G	possibly damaging	Het
Tmem102	A	T	11: 69,695,022 (GRCm39)	F317I	probably damaging	Het
Trav10	A	G	14: 53,743,497 (GRCm39)	S33G	possibly damaging	Het
Ttn	T	A	2: 76,745,408 (GRCm39)	I5214F	probably damaging	Het
Ube2f	T	A	1: 91,182,002 (GRCm39)	L2Q	probably damaging	Het
Ube4b	A	G	4: 149,429,069 (GRCm39)	F857L	probably damaging	Het
Vmn2r18	T	A	5: 151,485,602 (GRCm39)	I631F	possibly damaging	Het
Zfp280d	T	A	9: 72,219,947 (GRCm39)	S241T	possibly damaging	Het
Zfp638	T	A	6: 83,956,544 (GRCm39)	L1717*	probably null	Het
Zfp719	A	G	7: 43,240,535 (GRCm39)	N708D	possibly damaging	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
R4796:Ppp1r10	UTSW	17	36,234,979 (GRCm39)	missense	probably damaging	1.00
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'- CCCTTGGATGAGGTAAGTGG -3'
(R):5'- AACTGGGATAAGCCAGGCAC -3'

Sequencing Primer
(F):5'- ATGAGGTAAGTGGCTGTCAC -3'
(R):5'- GCTACACAGTGAGCCTCTC -3'

Posted On

2015-10-21