Mutagenetix > Incidental Mutation

Incidental Mutation 'R8006:Ppp1r10'

616650

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r10

Ensembl Gene

ENSMUSG00000039220

Gene Name

protein phosphatase 1, regulatory subunit 10

Synonyms

PNUTS, D17Ertd808e, 2610025H06Rik

MMRRC Submission

046046-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35916434-35932283 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35928266 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 347 (M347L)

Ref Sequence

ENSEMBL: ENSMUSP00000084460 (fasta)

Gene Model

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

AlphaFold

Q80W00

Predicted Effect

probably benign
Transcript: ENSMUST00000087210
AA Change: M347L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000084460
Gene: ENSMUSG00000039220
AA Change: M347L

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: M347L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000084461
Gene: ENSMUSG00000039220
AA Change: M347L

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: ENSMUST00000151664

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	T	A	8: 40,795,907	H351Q	probably benign	Het
Ahnak	T	C	19: 9,012,083	V3577A	possibly damaging	Het
Akap13	T	C	7: 75,579,696	S126P	probably damaging	Het
Akip1	A	G	7: 109,703,992	D14G	probably damaging	Het
Ankhd1	A	G	18: 36,648,719	R287G		Het
Ankrd13a	A	C	5: 114,804,423	*589S	probably null	Het
Ankrd34c	T	C	9: 89,729,836	I151V	probably damaging	Het
Ano5	T	A	7: 51,593,770	D880E	probably benign	Het
Arl3	A	C	19: 46,558,374	L4R	probably damaging	Het
Ate1	T	A	7: 130,467,388	Q340L	probably damaging	Het
Ccdc38	A	T	10: 93,555,586		probably null	Het
Celsr3	C	T	9: 108,829,107	P930S	probably damaging	Het
Cox18	C	T	5: 90,223,813	V43M	probably damaging	Het
Ctnna3	A	G	10: 63,582,011	K176R	probably benign	Het
Fam135b	T	C	15: 71,462,334	T1004A	probably benign	Het
Fam227a	A	G	15: 79,634,098	I335T	possibly damaging	Het
Gm14496	A	G	2: 181,995,876	I248V	probably benign	Het
Gm4788	A	G	1: 139,736,852	Y490H	probably damaging	Het
Gm5415	T	A	1: 32,546,924		probably benign	Het
Gm6871	T	C	7: 41,545,682	T544A	probably benign	Het
Grm6	A	T	11: 50,864,657	*872L	probably null	Het
Herc1	T	A	9: 66,445,560	Y2109*	probably null	Het
Hsd11b2	T	A	8: 105,519,103	V80E	possibly damaging	Het
Itgb3	T	C	11: 104,665,496	V721A	possibly damaging	Het
Jade1	A	T	3: 41,613,689	I731L	probably benign	Het
Khnyn	G	A	14: 55,887,590	V434I	probably benign	Het
Lrp1	A	G	10: 127,589,619	L714P	probably damaging	Het
Lrrc41	G	A	4: 116,094,888	E585K	possibly damaging	Het
Lrrfip1	A	G	1: 91,076,951	Y70C	probably damaging	Het
Mex3a	T	A	3: 88,537,086	C490S	probably damaging	Het
Mmp27	C	T	9: 7,578,984	R387C	probably damaging	Het
Mro	A	T	18: 73,877,506	D219V	possibly damaging	Het
Myot	T	A	18: 44,354,837	L407Q	probably damaging	Het
Nppa	T	A	4: 148,001,181	W82R	probably damaging	Het
Olfr243	T	A	7: 103,717,325	C244S	probably damaging	Het
Olfr981	T	G	9: 40,022,474	L27R	probably damaging	Het
Olfr994	T	C	2: 85,429,974	N285S	probably damaging	Het
Phip	T	A	9: 82,890,126	I1123L	possibly damaging	Het
Ppip5k2	A	G	1: 97,734,106	I695T	probably benign	Het
Reln	A	T	5: 21,899,084	C3296*	probably null	Het
Slf2	T	A	19: 44,942,317	L611Q	probably damaging	Het
Spire1	G	A	18: 67,501,181	Q396*	probably null	Het
Taf2	A	G	15: 55,048,701	F537L	probably damaging	Het
Tbc1d16	C	T	11: 119,156,072	E451K	probably damaging	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Tmem267	T	A	13: 119,609,238	V143E	probably damaging	Het
Tyw1	C	T	5: 130,268,072	R177W	possibly damaging	Het
Vcp	A	T	4: 42,985,993	H340Q	probably benign	Het
Vmn2r14	A	T	5: 109,220,458	L223M	probably benign	Het
Wnk4	A	G	11: 101,268,356	D533G	probably benign	Het
Wwp1	A	T	4: 19,650,174	C331S	probably benign	Het
Zik1	A	T	7: 10,490,173	C332*	probably null	Het

Other mutations in Ppp1r10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Ppp1r10	APN	17	35924859	missense	probably damaging	0.99
IGL01113:Ppp1r10	APN	17	35929559	missense	probably damaging	0.98
IGL01144:Ppp1r10	APN	17	35926564	missense	probably benign	0.28
IGL01650:Ppp1r10	APN	17	35931161	missense	unknown
IGL02445:Ppp1r10	APN	17	35926202	missense	probably damaging	1.00
IGL02715:Ppp1r10	APN	17	35930712	missense	unknown
IGL02797:Ppp1r10	APN	17	35928012	critical splice donor site	probably null
IGL03181:Ppp1r10	APN	17	35930624	nonsense	probably null
R1183:Ppp1r10	UTSW	17	35929443	missense	possibly damaging	0.56
R1710:Ppp1r10	UTSW	17	35926536	missense	probably damaging	0.96
R2166:Ppp1r10	UTSW	17	35930589	missense	unknown
R2865:Ppp1r10	UTSW	17	35928492	missense	possibly damaging	0.86
R2898:Ppp1r10	UTSW	17	35928892	missense	probably damaging	1.00
R3692:Ppp1r10	UTSW	17	35930868	missense	unknown
R4612:Ppp1r10	UTSW	17	35927931	missense	probably damaging	1.00
R4716:Ppp1r10	UTSW	17	35929460	missense	probably benign	0.16
R4796:Ppp1r10	UTSW	17	35924087	missense	probably damaging	1.00
R4997:Ppp1r10	UTSW	17	35924084	missense	probably damaging	1.00
R5152:Ppp1r10	UTSW	17	35929252	missense	probably damaging	1.00
R5186:Ppp1r10	UTSW	17	35928511	missense	probably damaging	1.00
R5364:Ppp1r10	UTSW	17	35930432	missense	unknown
R5705:Ppp1r10	UTSW	17	35929489	missense	probably damaging	1.00
R5847:Ppp1r10	UTSW	17	35926847	missense	possibly damaging	0.85
R6912:Ppp1r10	UTSW	17	35929561	missense	possibly damaging	0.70
R6974:Ppp1r10	UTSW	17	35929551	missense	probably benign	0.03
R7169:Ppp1r10	UTSW	17	35929473	missense	probably damaging	1.00
R7302:Ppp1r10	UTSW	17	35930881	missense	unknown
R7403:Ppp1r10	UTSW	17	35929434	missense	probably benign	0.05
R7427:Ppp1r10	UTSW	17	35930133	missense	possibly damaging	0.53
R8850:Ppp1r10	UTSW	17	35928798	missense	probably damaging	0.97
R8944:Ppp1r10	UTSW	17	35930126	missense	probably benign	0.02
R9497:Ppp1r10	UTSW	17	35924894	missense	probably damaging	1.00
R9741:Ppp1r10	UTSW	17	35926439	missense	possibly damaging	0.55
Z1088:Ppp1r10	UTSW	17	35930767	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTTGGTAAGGGTACATGGG -3'
(R):5'- CACAGGCTTTGCATCCAGAG -3'

Sequencing Primer
(F):5'- ACTGCCTTCTGGGGTGAGC -3'
(R):5'- GCTTTGCATCCAGAGCTCCTG -3'

Posted On

2020-01-23