Mutagenetix > Incidental Mutation

Incidental Mutation 'R7427:Ppp1r10'

576213

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r10

Ensembl Gene

ENSMUSG00000039220

Gene Name

protein phosphatase 1, regulatory subunit 10

Synonyms

PNUTS, 2610025H06Rik, D17Ertd808e

MMRRC Submission

045505-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7427 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36227404-36243175 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36241025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 642 (H642Q)

Ref Sequence

ENSEMBL: ENSMUSP00000084460 (fasta)

Gene Model

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

AlphaFold

Q80W00

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087210
AA Change: H642Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000084460
Gene: ENSMUSG00000039220
AA Change: H642Q

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

possibly damaging
Transcript: ENSMUST00000087211
AA Change: H642Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000084461
Gene: ENSMUSG00000039220
AA Change: H642Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	T	A	15: 76,478,585 (GRCm39)	C318S	possibly damaging	Het
Aspm	T	A	1: 139,385,354 (GRCm39)	C333S	probably benign	Het
B3gnt4	A	G	5: 123,648,794 (GRCm39)	N53S	probably damaging	Het
Bpifb5	G	A	2: 154,067,042 (GRCm39)	M98I	probably benign	Het
Cacna2d3	A	G	14: 28,786,232 (GRCm39)	M585T	probably damaging	Het
Cbarp	T	C	10: 79,967,138 (GRCm39)	D701G	probably damaging	Het
Ccn2	T	G	10: 24,473,397 (GRCm39)	M312R	probably damaging	Het
Cntrl	T	A	2: 35,060,546 (GRCm39)	W1913R	probably benign	Het
Cry2	T	C	2: 92,243,392 (GRCm39)	D483G	possibly damaging	Het
Csmd1	A	G	8: 16,073,864 (GRCm39)	F2044L	possibly damaging	Het
Cxcl16	A	G	11: 70,349,630 (GRCm39)	V78A	possibly damaging	Het
Cxcr6	A	T	9: 123,639,305 (GRCm39)	Y109F	probably benign	Het
Cyb5b	A	G	8: 107,897,048 (GRCm39)	D106G	probably benign	Het
D630036H23Rik	T	C	12: 36,431,537 (GRCm39)	R154G	unknown	Het
Dnah9	T	C	11: 65,846,045 (GRCm39)	T2998A	probably benign	Het
Focad	T	C	4: 88,286,988 (GRCm39)	S1254P	unknown	Het
Gm21886	A	T	18: 80,132,867 (GRCm39)	L97Q	probably damaging	Het
Gpr158	A	C	2: 21,832,129 (GRCm39)	L1076F	probably benign	Het
Hivep2	T	C	10: 14,009,485 (GRCm39)	M1714T	possibly damaging	Het
Hlcs	A	G	16: 94,068,758 (GRCm39)	V154A	probably benign	Het
Hpdl	A	T	4: 116,678,062 (GRCm39)	L133Q	probably damaging	Het
Il1rn	C	A	2: 24,239,554 (GRCm39)	T150K	probably benign	Het
Il6st	A	G	13: 112,625,094 (GRCm39)	I237V	probably benign	Het
Inpp5f	A	G	7: 128,281,529 (GRCm39)	D510G	probably damaging	Het
Ism2	G	T	12: 87,333,769 (GRCm39)	T92K	possibly damaging	Het
Kif13b	T	C	14: 65,025,909 (GRCm39)	I1422T	probably benign	Het
Kit	G	A	5: 75,806,507 (GRCm39)	V671I	possibly damaging	Het
Klhdc8a	A	T	1: 132,230,705 (GRCm39)	N190I	probably damaging	Het
Lad1	C	T	1: 135,753,576 (GRCm39)	T41I	probably damaging	Het
Lrrc7	G	T	3: 157,903,778 (GRCm39)	T294K	probably benign	Het
Megf8	C	T	7: 25,037,796 (GRCm39)	R771C	probably benign	Het
Micu3	A	C	8: 40,831,955 (GRCm39)	N440T	possibly damaging	Het
Mnx1	T	C	5: 29,679,211 (GRCm39)	N291D	unknown	Het
Mthfr	A	G	4: 148,136,060 (GRCm39)	M378V	probably benign	Het
Mup2	A	T	4: 60,138,454 (GRCm39)	D79E	probably benign	Het
Myzap	T	C	9: 71,412,465 (GRCm39)	T451A	probably benign	Het
Nlrp9c	T	C	7: 26,070,860 (GRCm39)	D907G	probably benign	Het
Nr1h4	T	C	10: 89,334,267 (GRCm39)	E41G	probably benign	Het
Nup98	A	T	7: 101,784,208 (GRCm39)		probably null	Het
Nxpe5	A	C	5: 138,238,022 (GRCm39)	Y194S	probably damaging	Het
Omd	A	T	13: 49,745,745 (GRCm39)	E385V	possibly damaging	Het
Or12d15	T	C	17: 37,694,190 (GRCm39)	V244A	probably damaging	Het
Or12e9	G	T	2: 87,202,034 (GRCm39)	V53L	probably benign	Het
Or2av9	A	G	11: 58,380,606 (GRCm39)	I325T	probably benign	Het
Or52m1	A	G	7: 102,289,533 (GRCm39)	I27V	probably benign	Het
Or5m12	T	A	2: 85,734,475 (GRCm39)	R308*	probably null	Het
Or5m3	A	T	2: 85,838,563 (GRCm39)	I148L	probably benign	Het
Or9s18	A	G	13: 65,300,866 (GRCm39)	Y276C	probably damaging	Het
Pcdh9	G	T	14: 94,124,547 (GRCm39)	T541K	probably damaging	Het
Pdia6	T	C	12: 17,328,546 (GRCm39)	V167A	probably damaging	Het
Phf7	C	T	14: 30,962,370 (GRCm39)	R145Q	possibly damaging	Het
Pitx3	T	C	19: 46,125,863 (GRCm39)	D20G	possibly damaging	Het
Plxnb1	T	C	9: 108,937,236 (GRCm39)	V1139A	probably benign	Het
Pon2	A	T	6: 5,268,995 (GRCm39)	N226K	probably damaging	Het
Potegl	C	T	2: 23,147,006 (GRCm39)	R337C	probably benign	Het
Prom2	A	G	2: 127,381,731 (GRCm39)	L195P	probably damaging	Het
Psg23	C	T	7: 18,345,908 (GRCm39)		probably null	Het
Rfx4	C	A	10: 84,731,876 (GRCm39)	Q618K	probably benign	Het
Rhobtb1	T	A	10: 69,084,654 (GRCm39)	I15N	probably damaging	Het
Rhot2	A	T	17: 26,060,583 (GRCm39)	V233E	probably damaging	Het
Ripply2	T	C	9: 86,901,809 (GRCm39)	S112P	possibly damaging	Het
Slc12a1	C	A	2: 125,056,052 (GRCm39)	T861N	probably benign	Het
Slc35f1	T	A	10: 52,965,510 (GRCm39)	S308R	probably damaging	Het
Slc35f4	T	A	14: 49,536,355 (GRCm39)	I427F	probably damaging	Het
Slco1a8	T	G	6: 141,949,234 (GRCm39)		probably null	Het
Sned1	G	A	1: 93,217,080 (GRCm39)	V1322I	probably benign	Het
Sprr2f	G	A	3: 92,273,251 (GRCm39)	V17M	unknown	Het
Srd5a3	A	G	5: 76,302,490 (GRCm39)	H285R	probably benign	Het
Stab1	T	C	14: 30,881,216 (GRCm39)	T605A	probably benign	Het
Syne1	T	C	10: 5,223,718 (GRCm39)	Q3054R	probably damaging	Het
Tas1r1	T	C	4: 152,122,765 (GRCm39)	T27A	probably benign	Het
Tmem150b	A	T	7: 4,719,209 (GRCm39)	V237E	probably benign	Het
Trpv6	C	T	6: 41,602,087 (GRCm39)	M407I	probably benign	Het
Ttn	T	G	2: 76,550,698 (GRCm39)	D31528A	probably damaging	Het
Uroc1	A	T	6: 90,323,344 (GRCm39)	D354V	possibly damaging	Het
Vmn2r69	T	C	7: 85,060,467 (GRCm39)	I372M	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Zfp971	T	A	2: 177,674,967 (GRCm39)	C189S	probably 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
R4716:Ppp1r10	UTSW	17	36,240,352 (GRCm39)	missense	probably benign	0.16
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
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'- TGAGGATAGTTGGGCACACTAG -3'
(R):5'- AATGGATCACCTCCCCGAGAAG -3'

Sequencing Primer
(F):5'- CTAGTGGGAAGCCATGCAATACTTG -3'
(R):5'- CTAAGAGACGTGGACCCACTG -3'

Posted On

2019-10-07