Mutagenetix > Incidental Mutation

Incidental Mutation 'R8206:Ppp1r35'

635906

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r35

Ensembl Gene

ENSMUSG00000029725

Gene Name

protein phosphatase 1, regulatory subunit 35

Synonyms

2010007H12Rik, 2010011D20Rik

MMRRC Submission

067629-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8206 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137777138-137778372 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137778296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 97 (I97K)

Ref Sequence

ENSEMBL: ENSMUSP00000143182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031739] [ENSMUST00000031740] [ENSMUST00000196022] [ENSMUST00000198929]

AlphaFold

Q9D8C8

Predicted Effect

probably benign
Transcript: ENSMUST00000031739

SMART Domains

Protein: ENSMUSP00000031739
Gene: ENSMUSG00000029725

Domain	Start	End	E-Value	Type
low complexity region	13	54	N/A	INTRINSIC
low complexity region	57	76	N/A	INTRINSIC
Pfam:PPP1R35_C	107	255	1.5e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000031740

SMART Domains

Protein: ENSMUSP00000031740
Gene: ENSMUSG00000029726

Domain	Start	End	E-Value	Type
low complexity region	14	19	N/A	INTRINSIC
low complexity region	49	74	N/A	INTRINSIC
low complexity region	115	121	N/A	INTRINSIC
low complexity region	130	136	N/A	INTRINSIC
low complexity region	234	254	N/A	INTRINSIC
low complexity region	307	352	N/A	INTRINSIC
low complexity region	355	376	N/A	INTRINSIC
Pfam:Methyltransf_23	398	623	2.7e-14	PFAM
Pfam:PrmA	408	489	6.9e-6	PFAM
Pfam:Methyltransf_31	419	480	9.3e-9	PFAM
Pfam:Methyltransf_18	420	595	1.8e-13	PFAM
Pfam:Bin3	552	660	4.2e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126126

SMART Domains

Protein: ENSMUSP00000114480
Gene: ENSMUSG00000029725

Domain	Start	End	E-Value	Type
Pfam:PPP1R35_C	48	144	2.5e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132726

SMART Domains

Protein: ENSMUSP00000118688
Gene: ENSMUSG00000029726

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_11	33	99	8e-6	PFAM
Pfam:Bin3	59	167	8.3e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196022

Predicted Effect

unknown
Transcript: ENSMUST00000198929
AA Change: I97K

SMART Domains

Protein: ENSMUSP00000143182
Gene: ENSMUSG00000029725
AA Change: I97K

Domain	Start	End	E-Value	Type
low complexity region	66	77	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano4	A	G	10: 88,860,958 (GRCm39)	Y342H	probably damaging	Het
Aqp4	T	A	18: 15,526,716 (GRCm39)	D255V	possibly damaging	Het
Arhgap26	C	A	18: 39,439,803 (GRCm39)	S247*	probably null	Het
Arid4a	A	G	12: 71,133,361 (GRCm39)	D1154G	probably damaging	Het
Atpaf2	A	G	11: 60,295,304 (GRCm39)	I182T	probably damaging	Het
Cacna1i	C	A	15: 80,274,016 (GRCm39)		probably null	Het
Ccdc38	A	G	10: 93,399,146 (GRCm39)	S205G	probably damaging	Het
Cep63	A	G	9: 102,498,470 (GRCm39)		probably benign	Het
Cripto	G	A	9: 110,773,352 (GRCm39)		probably benign	Het
Cyp24a1	T	C	2: 170,333,589 (GRCm39)	T255A	possibly damaging	Het
Dlg5	A	G	14: 24,210,336 (GRCm39)	S787P	possibly damaging	Het
Dnah6	A	T	6: 73,014,549 (GRCm39)	C3679*	probably null	Het
Dpy19l3	T	C	7: 35,429,155 (GRCm39)	Y95C	probably damaging	Het
Erc2	G	A	14: 28,024,972 (GRCm39)		probably null	Het
Ezh2	A	T	6: 47,509,834 (GRCm39)		probably null	Het
Fgfr1	A	G	8: 26,060,258 (GRCm39)	T463A	probably damaging	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Fsip2	T	C	2: 82,820,808 (GRCm39)	S5514P	possibly damaging	Het
Glrb	A	G	3: 80,758,373 (GRCm39)	Y347H	probably damaging	Het
Gm14325	C	A	2: 177,474,767 (GRCm39)	C105F	probably damaging	Het
Hgsnat	T	C	8: 26,444,665 (GRCm39)	T428A	probably damaging	Het
Ighv1-76	T	C	12: 115,811,934 (GRCm39)	M1V	probably null	Het
Inppl1	A	G	7: 101,472,783 (GRCm39)	I1207T	possibly damaging	Het
Kmt2c	T	A	5: 25,519,537 (GRCm39)	Q2191L	probably damaging	Het
Krt79	T	A	15: 101,848,705 (GRCm39)		probably null	Het
Mast4	G	A	13: 102,872,247 (GRCm39)	L2374F	probably damaging	Het
Mgam	A	G	6: 40,657,169 (GRCm39)	N951S	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naip6	A	T	13: 100,431,344 (GRCm39)	C1164*	probably null	Het
Nfatc2ip	G	T	7: 125,989,906 (GRCm39)	D189E	probably damaging	Het
Nrp1	A	G	8: 129,184,438 (GRCm39)	D361G	probably damaging	Het
Nrp2	T	C	1: 62,786,374 (GRCm39)	I293T	probably damaging	Het
Pate5	A	T	9: 35,750,719 (GRCm39)	F34L	possibly damaging	Het
Pde3a	T	C	6: 141,433,611 (GRCm39)	V831A	probably damaging	Het
Pirb	A	G	7: 3,715,905 (GRCm39)		probably null	Het
Plch1	G	T	3: 63,610,047 (GRCm39)		probably null	Het
Plekhh2	A	G	17: 84,898,277 (GRCm39)	T973A	possibly damaging	Het
Ppp1r3c	C	T	19: 36,710,846 (GRCm39)	G308E	probably benign	Het
Prss12	G	A	3: 123,258,611 (GRCm39)		probably null	Het
Rad51b	A	G	12: 79,361,715 (GRCm39)	D142G	probably damaging	Het
Slc13a3	C	T	2: 165,248,745 (GRCm39)	G553D	probably damaging	Het
Spata31d1d	A	C	13: 59,879,344 (GRCm39)	V64G	probably benign	Het
Srp68	G	A	11: 116,164,809 (GRCm39)	R42C	probably damaging	Het
Syne2	T	C	12: 76,062,365 (GRCm39)	V4229A	probably benign	Het
Tas2r144	G	A	6: 42,192,325 (GRCm39)	V22M	probably damaging	Het
Tcf7l1	A	G	6: 72,604,395 (GRCm39)	L583P	probably damaging	Het
Tdrd3	A	G	14: 87,749,214 (GRCm39)	D708G	probably benign	Het
Tns4	A	T	11: 98,976,627 (GRCm39)	L98Q	probably damaging	Het
Zfp677	T	A	17: 21,612,717 (GRCm39)		probably null	Het

Other mutations in Ppp1r35

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Ppp1r35	APN	5	137,777,799 (GRCm39)	missense	probably damaging	0.98
IGL02015:Ppp1r35	APN	5	137,778,293 (GRCm39)	unclassified	probably benign
R2091:Ppp1r35	UTSW	5	137,778,156 (GRCm39)	missense	possibly damaging	0.61
R2155:Ppp1r35	UTSW	5	137,778,267 (GRCm39)	missense	probably benign	0.01
R5249:Ppp1r35	UTSW	5	137,777,406 (GRCm39)	unclassified	probably benign
R5264:Ppp1r35	UTSW	5	137,778,286 (GRCm39)	unclassified	probably benign
R7436:Ppp1r35	UTSW	5	137,778,279 (GRCm39)	nonsense	probably null
R8803:Ppp1r35	UTSW	5	137,777,731 (GRCm39)	missense	possibly damaging	0.93
R9389:Ppp1r35	UTSW	5	137,777,577 (GRCm39)	missense	probably damaging	1.00
R9524:Ppp1r35	UTSW	5	137,777,304 (GRCm39)	missense	unknown
Z1177:Ppp1r35	UTSW	5	137,777,205 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCACCTCGAGTGTAACCTG -3'
(R):5'- ACACTTGGGACAGTGCTTTC -3'

Sequencing Primer
(F):5'- GCTTCACCTTCCCATAGGAGG -3'
(R):5'- CTTTCCACTTGCCATGGGGG -3'

Posted On

2020-07-13