Mutagenetix > Incidental Mutation

Incidental Mutation 'R7501:Ppp1r26'

581453

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r26

Ensembl Gene

ENSMUSG00000035829

Gene Name

protein phosphatase 1, regulatory subunit 26

Synonyms

LOC241289

MMRRC Submission

045574-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7501 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

28336812-28345520 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28340749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 126 (D126E)

Ref Sequence

ENSEMBL: ENSMUSP00000042173 (fasta)

Gene Model

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

AlphaFold

Q6A025

Predicted Effect

probably damaging
Transcript: ENSMUST00000040324
AA Change: D126E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042173
Gene: ENSMUSG00000035829
AA Change: D126E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000189694
AA Change: D126E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139546
Gene: ENSMUSG00000035829
AA Change: D126E

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

Meta Mutation Damage Score

0.1436

Coding Region Coverage

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

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	G	3: 36,142,974 (GRCm39)	N503S	probably benign	Het
Adam1a	C	T	5: 121,657,011 (GRCm39)	A761T	possibly damaging	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Ankrd44	T	C	1: 54,688,522 (GRCm39)	E238G		Het
Ap3b2	A	T	7: 81,123,194 (GRCm39)	I440K	probably damaging	Het
Atp2a1	G	A	7: 126,049,344 (GRCm39)	T566I	probably benign	Het
B3galnt1	T	C	3: 69,482,632 (GRCm39)	I210V	probably benign	Het
Bag5	T	C	12: 111,676,722 (GRCm39)	K367R	probably benign	Het
Cdc25b	T	C	2: 131,036,080 (GRCm39)	Y410H	probably damaging	Het
Cgref1	G	T	5: 31,102,800 (GRCm39)	P7Q	probably damaging	Het
Cnot6	T	C	11: 49,576,159 (GRCm39)	I136V	probably benign	Het
Comp	A	G	8: 70,832,059 (GRCm39)	D500G	possibly damaging	Het
Dnah7b	T	C	1: 46,395,714 (GRCm39)	L3872P	probably damaging	Het
Dync2h1	A	T	9: 7,175,336 (GRCm39)	L91Q	possibly damaging	Het
Fancd2	T	C	6: 113,525,364 (GRCm39)	V280A	possibly damaging	Het
Fat4	T	A	3: 39,012,597 (GRCm39)	Y2297*	probably null	Het
Fem1c	A	T	18: 46,638,868 (GRCm39)	M378K	probably damaging	Het
Gata6	A	G	18: 11,054,082 (GRCm39)	T4A	probably damaging	Het
Gatb	G	C	3: 85,544,297 (GRCm39)	V422L	probably damaging	Het
Gfpt1	T	A	6: 87,059,508 (GRCm39)	D510E	probably benign	Het
Gria4	A	T	9: 4,502,436 (GRCm39)	Y366N	probably benign	Het
Gucy1b1	T	C	3: 81,942,666 (GRCm39)	H492R	probably damaging	Het
H2bc6	A	G	13: 23,769,776 (GRCm39)	I55T	possibly damaging	Het
Hecw2	T	C	1: 53,953,031 (GRCm39)		probably null	Het
Hnrnph1	A	C	11: 50,270,383 (GRCm39)	E62D	probably benign	Het
Itga2	A	G	13: 115,012,095 (GRCm39)	V274A	probably damaging	Het
Kdm5d	T	A	Y: 941,488 (GRCm39)	W1230R	probably damaging	Het
Lctl	A	T	9: 64,038,861 (GRCm39)	M317L	probably benign	Het
Lrp6	T	C	6: 134,463,471 (GRCm39)	D570G	probably damaging	Het
Lrrc9	G	T	12: 72,496,490 (GRCm39)	M39I	probably damaging	Het
Ltbp2	A	T	12: 84,877,419 (GRCm39)	I402N	probably damaging	Het
Mst1	G	A	9: 107,959,748 (GRCm39)	G297D	probably damaging	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Nbr1	G	A	11: 101,457,026 (GRCm39)	R163Q	probably damaging	Het
Nlrp4f	A	G	13: 65,342,143 (GRCm39)	F501L	probably damaging	Het
Nup133	A	C	8: 124,649,153 (GRCm39)	I563S	probably benign	Het
Oacyl	T	G	18: 65,858,369 (GRCm39)		probably null	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Plxna2	C	T	1: 194,326,203 (GRCm39)	R46C	possibly damaging	Het
Prl6a1	A	T	13: 27,500,282 (GRCm39)	R84S	possibly damaging	Het
Ptprz1	C	T	6: 23,001,746 (GRCm39)	Q1279*	probably null	Het
Ptx4	C	T	17: 25,344,166 (GRCm39)	T472I	possibly damaging	Het
Rabgap1l	A	G	1: 160,528,358 (GRCm39)	V416A	probably damaging	Het
Rbfox2	A	T	15: 76,989,834 (GRCm39)	D231E	probably benign	Het
Reln	A	T	5: 22,432,636 (GRCm39)	F121L	possibly damaging	Het
Rfx7	G	A	9: 72,524,054 (GRCm39)	V415I	probably benign	Het
Scaf4	A	T	16: 90,026,964 (GRCm39)	M951K	unknown	Het
Sdf4	T	C	4: 156,080,977 (GRCm39)		probably null	Het
Sec16a	T	C	2: 26,331,863 (GRCm39)	T51A	probably damaging	Het
Sema3a	A	G	5: 13,607,008 (GRCm39)	N281S	probably damaging	Het
Snai2	G	A	16: 14,524,754 (GRCm39)	V87I	possibly damaging	Het
Spata31f1e	T	C	4: 42,791,357 (GRCm39)	E925G	probably damaging	Het
Synj2	T	A	17: 6,040,514 (GRCm39)	S197T	possibly damaging	Het
Syt6	A	T	3: 103,495,018 (GRCm39)	M328L	probably benign	Het
Tdrd12	A	G	7: 35,177,516 (GRCm39)	V946A	unknown	Het
Trat1	A	T	16: 48,574,657 (GRCm39)		probably null	Het
Vmn1r75	T	A	7: 11,614,997 (GRCm39)	I243K	possibly damaging	Het
Vmn2r83	G	A	10: 79,327,771 (GRCm39)	C793Y	probably damaging	Het
Wnt9a	G	A	11: 59,219,583 (GRCm39)	G203D	probably damaging	Het
Xrn2	T	C	2: 146,871,676 (GRCm39)	I366T	probably damaging	Het
Zfp280d	A	G	9: 72,269,224 (GRCm39)	D787G	possibly damaging	Het
Zfp706	T	C	15: 37,002,169 (GRCm39)	T53A	probably damaging	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
R1477:Ppp1r26	UTSW	2	28,342,800 (GRCm39)	missense	probably benign	0.00
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
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'- TGAGCGTCTCACCCAAAGAG -3'
(R):5'- TTCAAAGGAGTCCTCGCTG -3'

Sequencing Primer
(F):5'- CCAAAGAGGCCAACGTGCAG -3'
(R):5'- AAAGGAGTCCTCGCTGCTCATG -3'

Posted On

2019-10-17