Mutagenetix > Incidental Mutation

Incidental Mutation 'R2898:Ppp1r10'

261388

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r10

Ensembl Gene

ENSMUSG00000039220

Gene Name

protein phosphatase 1, regulatory subunit 10

Synonyms

PNUTS, D17Ertd808e, 2610025H06Rik

MMRRC Submission

040486-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2898 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35916434-35932283 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35928892 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 501 (K501R)

Ref Sequence

ENSEMBL: ENSMUSP00000084461 (fasta)

Gene Model

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

AlphaFold

Q80W00

Predicted Effect

probably damaging
Transcript: ENSMUST00000087210
AA Change: K501R

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

SMART Domains

Protein: ENSMUSP00000084460
Gene: ENSMUSG00000039220
AA Change: K501R

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: K501R

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

SMART Domains

Protein: ENSMUSP00000084461
Gene: ENSMUSG00000039220
AA Change: K501R

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 benign
Transcript: ENSMUST00000151664

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	C	T	X: 78,370,262 (GRCm38)	Q198*	probably null	Het
Acap3	C	T	4: 155,903,459 (GRCm38)	R547C	possibly damaging	Het
Acap3	G	C	4: 155,904,931 (GRCm38)		probably null	Het
Adcy6	A	G	15: 98,593,488 (GRCm38)	S1075P	probably damaging	Het
Ankk1	T	A	9: 49,421,822 (GRCm38)	T121S	probably benign	Het
Bnc2	T	C	4: 84,292,915 (GRCm38)	I406V	probably damaging	Het
Bnipl	T	A	3: 95,243,049 (GRCm38)	H219L	probably benign	Het
Brwd1	C	A	16: 96,066,100 (GRCm38)	M178I	probably damaging	Het
Cep192	T	A	18: 67,855,270 (GRCm38)		probably null	Het
Chd5	T	C	4: 152,372,115 (GRCm38)	F970L	probably damaging	Het
Cit	A	G	5: 115,873,978 (GRCm38)		probably null	Het
Coq9	T	C	8: 94,853,124 (GRCm38)	Y236H	probably damaging	Het
Cxcr2	T	C	1: 74,158,971 (GRCm38)	V208A	probably benign	Het
Dnah10	G	A	5: 124,817,670 (GRCm38)	R3433H	probably damaging	Het
Dnmt3b	G	T	2: 153,667,630 (GRCm38)	V268L	possibly damaging	Het
Fam208b	T	C	13: 3,585,122 (GRCm38)	N562D	possibly damaging	Het
Fbxw21	T	C	9: 109,156,336 (GRCm38)	T125A	possibly damaging	Het
Fzd9	T	G	5: 135,249,846 (GRCm38)	D395A	probably damaging	Het
Gfm2	T	C	13: 97,172,961 (GRCm38)	V642A	possibly damaging	Het
Gkn3	C	T	6: 87,383,525 (GRCm38)	A163T	probably damaging	Het
Hid1	A	G	11: 115,350,530 (GRCm38)	S645P	probably benign	Het
Hmgxb3	C	T	18: 61,155,296 (GRCm38)	V500M	probably benign	Het
Hnf1a	C	T	5: 114,960,047 (GRCm38)	W165*	probably null	Het
Hsd3b1	A	T	3: 98,853,307 (GRCm38)	C123S	probably benign	Het
Inpp4a	A	T	1: 37,366,594 (GRCm38)	H148L	probably benign	Het
Itpr2	C	T	6: 146,173,341 (GRCm38)	R2338Q	probably benign	Het
Itpr2	A	T	6: 146,323,169 (GRCm38)	I1441N	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906 (GRCm38)	74	probably benign	Het
Lmo7	A	G	14: 101,876,914 (GRCm38)	T31A	possibly damaging	Het
Lrrc15	C	T	16: 30,273,786 (GRCm38)	R245H	probably benign	Het
Lrriq1	T	C	10: 103,227,250 (GRCm38)	N65S	probably damaging	Het
Mpp4	T	C	1: 59,144,694 (GRCm38)	I296V	probably benign	Het
Myo6	T	A	9: 80,269,611 (GRCm38)		probably null	Het
Myo7a	G	T	7: 98,054,424 (GRCm38)	Y2003*	probably null	Het
Myo7a	T	C	7: 98,097,206 (GRCm38)	N246D	probably damaging	Het
Ndrg4	A	G	8: 95,678,386 (GRCm38)		probably null	Het
Neu2	A	G	1: 87,595,060 (GRCm38)	S72G	probably benign	Het
Olfr578	T	A	7: 102,984,877 (GRCm38)	I96F	probably benign	Het
Olfr905	T	C	9: 38,472,975 (GRCm38)	V76A	probably damaging	Het
Pcdhb1	A	G	18: 37,266,463 (GRCm38)	Y489C	probably damaging	Het
Ppp1r9a	C	T	6: 4,906,558 (GRCm38)	T371I	probably benign	Het
Prpf8	A	T	11: 75,496,034 (GRCm38)	T1102S	probably benign	Het
Ric8b	T	G	10: 84,947,897 (GRCm38)	D206E	probably benign	Het
Sacm1l	T	C	9: 123,560,601 (GRCm38)		probably null	Het
Sema6c	C	A	3: 95,172,818 (GRCm38)	L776M	probably damaging	Het
Serpinb8	A	G	1: 107,607,046 (GRCm38)	T32A	unknown	Het
Sh2b3	A	T	5: 121,829,048 (GRCm38)	M1K	probably null	Het
Shroom3	G	T	5: 92,943,086 (GRCm38)	V1151F	probably damaging	Het
Spty2d1	T	A	7: 46,993,352 (GRCm38)	M664L	unknown	Het
Stk36	T	A	1: 74,632,825 (GRCm38)	S895T	probably null	Het
Sycp3	G	A	10: 88,472,682 (GRCm38)	E205K	possibly damaging	Het
Taok3	A	G	5: 117,200,069 (GRCm38)		probably null	Het
Tbc1d16	A	T	11: 119,157,828 (GRCm38)	I333N	probably damaging	Het
Tectb	C	G	19: 55,180,999 (GRCm38)		probably benign	Het
Thumpd2	C	T	17: 81,044,128 (GRCm38)	W288*	probably null	Het
Tnks2	T	C	19: 36,872,590 (GRCm38)		probably null	Het
Tns2	C	T	15: 102,108,934 (GRCm38)	R281C	probably damaging	Het
Tpm1	T	C	9: 67,031,040 (GRCm38)	D254G	probably damaging	Het
Usp53	A	T	3: 122,957,574 (GRCm38)	L278*	probably null	Het
Zfp37	C	T	4: 62,191,777 (GRCm38)	G350D	probably damaging	Het
Zfp777	C	T	6: 48,025,660 (GRCm38)	E543K	probably damaging	Het
Zfp81	A	T	17: 33,334,300 (GRCm38)	C513*	probably null	Het

Other mutations in Ppp1r10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Ppp1r10	APN	17	35,924,859 (GRCm38)	missense	probably damaging	0.99
IGL01113:Ppp1r10	APN	17	35,929,559 (GRCm38)	missense	probably damaging	0.98
IGL01144:Ppp1r10	APN	17	35,926,564 (GRCm38)	missense	probably benign	0.28
IGL01650:Ppp1r10	APN	17	35,931,161 (GRCm38)	missense	unknown
IGL02445:Ppp1r10	APN	17	35,926,202 (GRCm38)	missense	probably damaging	1.00
IGL02715:Ppp1r10	APN	17	35,930,712 (GRCm38)	missense	unknown
IGL02797:Ppp1r10	APN	17	35,928,012 (GRCm38)	critical splice donor site	probably null
IGL03181:Ppp1r10	APN	17	35,930,624 (GRCm38)	nonsense	probably null
R1183:Ppp1r10	UTSW	17	35,929,443 (GRCm38)	missense	possibly damaging	0.56
R1710:Ppp1r10	UTSW	17	35,926,536 (GRCm38)	missense	probably damaging	0.96
R2166:Ppp1r10	UTSW	17	35,930,589 (GRCm38)	missense	unknown
R2865:Ppp1r10	UTSW	17	35,928,492 (GRCm38)	missense	possibly damaging	0.86
R3692:Ppp1r10	UTSW	17	35,930,868 (GRCm38)	missense	unknown
R4612:Ppp1r10	UTSW	17	35,927,931 (GRCm38)	missense	probably damaging	1.00
R4716:Ppp1r10	UTSW	17	35,929,460 (GRCm38)	missense	probably benign	0.16
R4796:Ppp1r10	UTSW	17	35,924,087 (GRCm38)	missense	probably damaging	1.00
R4997:Ppp1r10	UTSW	17	35,924,084 (GRCm38)	missense	probably damaging	1.00
R5152:Ppp1r10	UTSW	17	35,929,252 (GRCm38)	missense	probably damaging	1.00
R5186:Ppp1r10	UTSW	17	35,928,511 (GRCm38)	missense	probably damaging	1.00
R5364:Ppp1r10	UTSW	17	35,930,432 (GRCm38)	missense	unknown
R5705:Ppp1r10	UTSW	17	35,929,489 (GRCm38)	missense	probably damaging	1.00
R5847:Ppp1r10	UTSW	17	35,926,847 (GRCm38)	missense	possibly damaging	0.85
R6912:Ppp1r10	UTSW	17	35,929,561 (GRCm38)	missense	possibly damaging	0.70
R6974:Ppp1r10	UTSW	17	35,929,551 (GRCm38)	missense	probably benign	0.03
R7169:Ppp1r10	UTSW	17	35,929,473 (GRCm38)	missense	probably damaging	1.00
R7302:Ppp1r10	UTSW	17	35,930,881 (GRCm38)	missense	unknown
R7403:Ppp1r10	UTSW	17	35,929,434 (GRCm38)	missense	probably benign	0.05
R7427:Ppp1r10	UTSW	17	35,930,133 (GRCm38)	missense	possibly damaging	0.53
R8006:Ppp1r10	UTSW	17	35,928,266 (GRCm38)	missense	probably benign	0.00
R8850:Ppp1r10	UTSW	17	35,928,798 (GRCm38)	missense	probably damaging	0.97
R8944:Ppp1r10	UTSW	17	35,930,126 (GRCm38)	missense	probably benign	0.02
R9497:Ppp1r10	UTSW	17	35,924,894 (GRCm38)	missense	probably damaging	1.00
R9741:Ppp1r10	UTSW	17	35,926,439 (GRCm38)	missense	possibly damaging	0.55
Z1088:Ppp1r10	UTSW	17	35,930,767 (GRCm38)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- CGACATGCTTTCGAGACAGC -3'
(R):5'- TTAGTACCCTCAAGATGGTGTTTTC -3'

Sequencing Primer
(F):5'- AGACAGCTCGGCGACTAAGC -3'
(R):5'- GCTGTCCTGAAACTTACTTTGTAG -3'

Posted On

2015-01-23