Mutagenetix > Incidental Mutation

Incidental Mutation 'R1477:Ppp1r26'

164112

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r26

Ensembl Gene

ENSMUSG00000035829

Gene Name

protein phosphatase 1, regulatory subunit 26

Synonyms

LOC241289

MMRRC Submission

039530-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1477 (G1)

Quality Score

168

Status

Not validated

Chromosome

Chromosomal Location

28336812-28345520 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28342800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 810 (T810I)

Ref Sequence

ENSEMBL: ENSMUSP00000139546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040324] [ENSMUST00000189694]

AlphaFold

Q6A025

Predicted Effect

probably benign
Transcript: ENSMUST00000040324
AA Change: T810I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000042173
Gene: ENSMUSG00000035829
AA Change: T810I

Domain	Start	End	E-Value	Type
Pfam:PPP1R26_N	1	812	N/A	PFAM
low complexity region	901	913	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154081

Predicted Effect

probably benign
Transcript: ENSMUST00000189694
AA Change: T810I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000139546
Gene: ENSMUSG00000035829
AA Change: T810I

Domain	Start	End	E-Value	Type
low complexity region	122	132	N/A	INTRINSIC
low complexity region	487	504	N/A	INTRINSIC
low complexity region	515	536	N/A	INTRINSIC
low complexity region	551	559	N/A	INTRINSIC
low complexity region	636	654	N/A	INTRINSIC
low complexity region	766	780	N/A	INTRINSIC
low complexity region	901	913	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 93.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	A	C	19: 55,279,904 (GRCm39)	D481A	probably benign	Het
Adam2	A	C	14: 66,315,149 (GRCm39)	L8R	possibly damaging	Het
Ajm1	G	C	2: 25,469,765 (GRCm39)	H49D	possibly damaging	Het
Arfgef1	A	T	1: 10,259,509 (GRCm39)	C619S	probably damaging	Het
Atm	A	G	9: 53,375,573 (GRCm39)	I2082T	probably benign	Het
Cgrrf1	A	G	14: 47,090,895 (GRCm39)	I210M	probably benign	Het
Clec2e	A	T	6: 129,072,163 (GRCm39)	V72E	probably benign	Het
Cmtr1	T	C	17: 29,916,131 (GRCm39)	V587A	possibly damaging	Het
Col1a2	T	C	6: 4,539,673 (GRCm39)	F1314L	unknown	Het
Ctbp2	T	C	7: 132,600,670 (GRCm39)	E618G	probably damaging	Het
Dnaaf6rt	G	A	1: 31,262,104 (GRCm39)	V29M	probably benign	Het
Dock8	A	T	19: 25,072,914 (GRCm39)	Y398F	possibly damaging	Het
Ezh1	A	T	11: 101,083,810 (GRCm39)	D733E	probably damaging	Het
Fbxl6	A	G	15: 76,421,934 (GRCm39)	S202P	probably benign	Het
Fcgbpl1	C	A	7: 27,856,518 (GRCm39)	Q2102K	probably benign	Het
Grid2ip	G	A	5: 143,361,340 (GRCm39)	A191T	probably damaging	Het
Helz2	T	C	2: 180,874,597 (GRCm39)	S1966G	probably benign	Het
Ipmk	A	G	10: 71,217,607 (GRCm39)	K385E	probably damaging	Het
Itga11	G	A	9: 62,662,493 (GRCm39)	V489I	probably benign	Het
Klhl6	T	C	16: 19,784,727 (GRCm39)	K137R	probably benign	Het
Meis1	G	A	11: 18,831,665 (GRCm39)	Q458*	probably null	Het
Mst1r	T	C	9: 107,785,523 (GRCm39)	S394P	probably benign	Het
Mus81	G	T	19: 5,536,362 (GRCm39)	H155Q	probably benign	Het
Neb	G	A	2: 52,154,134 (GRCm39)	L2326F	probably damaging	Het
Nf1	C	T	11: 79,286,685 (GRCm39)	Q162*	probably null	Het
Nin	T	C	12: 70,090,958 (GRCm39)	E819G	possibly damaging	Het
Nox4	T	C	7: 86,945,074 (GRCm39)	V79A	probably benign	Het
Or11g2	A	T	14: 50,856,170 (GRCm39)	I164F	probably damaging	Het
Or13a28	T	A	7: 140,218,355 (GRCm39)	I247N	possibly damaging	Het
Or5ae2	T	A	7: 84,506,225 (GRCm39)	I216N	probably damaging	Het
Or6d12	A	T	6: 116,493,626 (GRCm39)	Y296F	probably damaging	Het
Peg3	T	A	7: 6,719,141 (GRCm39)	D69V	probably damaging	Het
Pnp2	A	G	14: 51,196,992 (GRCm39)	E26G	probably benign	Het
Pnpt1	T	A	11: 29,087,102 (GRCm39)	C154S	probably benign	Het
Ppp2r5b	A	G	19: 6,280,257 (GRCm39)	S349P	probably benign	Het
Prdm4	C	T	10: 85,740,129 (GRCm39)	V424I	probably benign	Het
Rraga	A	G	4: 86,494,996 (GRCm39)	I281V	probably benign	Het
Sall1	T	C	8: 89,759,510 (GRCm39)	E198G	probably damaging	Het
Serpina9	T	C	12: 103,963,362 (GRCm39)	D382G	possibly damaging	Het
Stt3b	A	G	9: 115,095,260 (GRCm39)	V257A	probably damaging	Het
Taf2	A	T	15: 54,925,568 (GRCm39)	Y225N	possibly damaging	Het
Tlr3	A	G	8: 45,851,202 (GRCm39)	L41P	probably damaging	Het
Trappc12	A	T	12: 28,787,751 (GRCm39)	V444E	probably benign	Het
Trim34a	T	A	7: 103,897,287 (GRCm39)	V117D	possibly damaging	Het
Ttbk1	A	C	17: 46,787,725 (GRCm39)	M259R	probably benign	Het
Ttll12	A	G	15: 83,464,303 (GRCm39)	V509A	probably damaging	Het
Ush2a	G	A	1: 188,581,273 (GRCm39)	V3718M	probably benign	Het
Vps35	T	A	8: 86,014,429 (GRCm39)	E73D	probably damaging	Het
Zfp790	C	T	7: 29,522,525 (GRCm39)		probably benign	Het

Other mutations in Ppp1r26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Ppp1r26	APN	2	28,343,730 (GRCm39)	missense	probably damaging	1.00
IGL01092:Ppp1r26	APN	2	28,343,872 (GRCm39)	utr 3 prime	probably benign
IGL02061:Ppp1r26	APN	2	28,340,639 (GRCm39)	missense	possibly damaging	0.68
IGL02399:Ppp1r26	APN	2	28,343,292 (GRCm39)	missense	probably benign
R0518:Ppp1r26	UTSW	2	28,342,314 (GRCm39)	missense	probably damaging	1.00
R0763:Ppp1r26	UTSW	2	28,340,379 (GRCm39)	missense	probably damaging	1.00
R1082:Ppp1r26	UTSW	2	28,342,146 (GRCm39)	missense	probably damaging	1.00
R1512:Ppp1r26	UTSW	2	28,341,528 (GRCm39)	missense	probably benign	0.01
R2157:Ppp1r26	UTSW	2	28,342,370 (GRCm39)	missense	probably benign	0.00
R2228:Ppp1r26	UTSW	2	28,343,798 (GRCm39)	missense	possibly damaging	0.91
R2275:Ppp1r26	UTSW	2	28,342,713 (GRCm39)	missense	possibly damaging	0.86
R3015:Ppp1r26	UTSW	2	28,342,314 (GRCm39)	missense	probably damaging	1.00
R4402:Ppp1r26	UTSW	2	28,341,618 (GRCm39)	missense	probably benign	0.00
R4614:Ppp1r26	UTSW	2	28,340,860 (GRCm39)	missense	probably benign	0.04
R5521:Ppp1r26	UTSW	2	28,341,438 (GRCm39)	missense	probably benign	0.27
R5873:Ppp1r26	UTSW	2	28,341,617 (GRCm39)	missense	probably benign	0.10
R5988:Ppp1r26	UTSW	2	28,342,566 (GRCm39)	missense	probably benign	0.01
R6060:Ppp1r26	UTSW	2	28,341,042 (GRCm39)	missense	probably benign	0.00
R7007:Ppp1r26	UTSW	2	28,341,171 (GRCm39)	missense	probably damaging	0.99
R7501:Ppp1r26	UTSW	2	28,340,749 (GRCm39)	missense	probably damaging	1.00
R8812:Ppp1r26	UTSW	2	28,341,192 (GRCm39)	missense	probably benign	0.00
R8986:Ppp1r26	UTSW	2	28,342,802 (GRCm39)	nonsense	probably null
R9213:Ppp1r26	UTSW	2	28,343,649 (GRCm39)	missense	probably benign	0.04
Z1176:Ppp1r26	UTSW	2	28,342,859 (GRCm39)	missense	probably damaging	1.00
Z1177:Ppp1r26	UTSW	2	28,343,492 (GRCm39)	missense	probably damaging	0.98
Z1177:Ppp1r26	UTSW	2	28,342,880 (GRCm39)	missense	probably benign	0.45
Z1177:Ppp1r26	UTSW	2	28,340,904 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TCTTCCCTCTACAGACACAGGAGC -3'
(R):5'- CGAACACACTTTCTGCCGTTGC -3'

Sequencing Primer
(F):5'- CTACAGACACAGGAGCCAGTG -3'
(R):5'- GTGAACGTGAGCACTTTTCC -3'

Posted On

2014-03-28