Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02604:Ppp1r21'

300179

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppp1r21

Ensembl Gene

ENSMUSG00000034709

Gene Name

protein phosphatase 1, regulatory subunit 21

Synonyms

Ccdc128, Klraq1, 1110018J12Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.261) question?

Stock #

IGL02604

Quality Score

Status

Chromosome

Chromosomal Location

88837552-88895795 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 88880171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 529 (K529N)

Ref Sequence

ENSEMBL: ENSMUSP00000048443 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038551]

AlphaFold

Q3TDD9

Predicted Effect

probably benign
Transcript: ENSMUST00000038551
AA Change: K529N

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

SMART Domains

Protein: ENSMUSP00000048443
Gene: ENSMUSG00000034709
AA Change: K529N

Domain	Start	End	E-Value	Type
KLRAQ	11	112	8.01e-51	SMART
coiled coil region	136	211	N/A	INTRINSIC
Pfam:TTKRSYEDQ	255	771	1.8e-273	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188064

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190136

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,878,845 (GRCm39)	V61A	probably benign	Het
Arfgef1	G	A	1: 10,251,275 (GRCm39)		probably benign	Het
Arhgef4	T	A	1: 34,850,804 (GRCm39)	L594*	probably null	Het
Cacna2d3	T	C	14: 29,015,066 (GRCm39)	T375A	possibly damaging	Het
Calb2	A	C	8: 110,875,160 (GRCm39)	Y155D	probably damaging	Het
Camkmt	A	G	17: 85,404,053 (GRCm39)	T92A	possibly damaging	Het
Cfap91	A	G	16: 38,141,921 (GRCm39)		probably benign	Het
Chsy3	A	G	18: 59,542,187 (GRCm39)	S442G	probably benign	Het
Cyp4f13	T	C	17: 33,151,395 (GRCm39)	I173V	probably benign	Het
Dapk1	A	G	13: 60,896,134 (GRCm39)	T741A	probably benign	Het
Dennd3	T	C	15: 73,428,252 (GRCm39)	I866T	probably damaging	Het
Dhrs2	A	T	14: 55,474,778 (GRCm39)	I138F	possibly damaging	Het
Dscaml1	C	T	9: 45,655,626 (GRCm39)		probably benign	Het
Fsbp	A	G	4: 11,584,147 (GRCm39)	E282G	probably damaging	Het
Hpgds	A	T	6: 65,100,594 (GRCm39)	L128Q	probably damaging	Het
Hspa9	A	G	18: 35,087,266 (GRCm39)	V13A	unknown	Het
Itgb3	A	G	11: 104,553,269 (GRCm39)	E709G	probably damaging	Het
Jarid2	T	C	13: 45,027,877 (GRCm39)	S148P	probably damaging	Het
Kcna6	C	T	6: 126,716,167 (GRCm39)	G241R	probably benign	Het
Kdm5a	T	A	6: 120,408,941 (GRCm39)	N1541K	probably benign	Het
Kel	C	A	6: 41,664,516 (GRCm39)	E640D	probably damaging	Het
Lcp1	A	T	14: 75,461,566 (GRCm39)	I520F	probably benign	Het
Lgr4	A	G	2: 109,841,658 (GRCm39)	I524V	probably damaging	Het
Mup20	A	C	4: 61,970,141 (GRCm39)	Y139D	probably damaging	Het
Notch4	T	C	17: 34,784,362 (GRCm39)		probably null	Het
Obox7	A	G	7: 14,399,293 (GRCm39)	E173G	probably benign	Het
Or10a49	T	A	7: 108,467,857 (GRCm39)	Y168F	probably benign	Het
Or2a25	T	A	6: 42,888,992 (GRCm39)	C178*	probably null	Het
Or5w22	A	T	2: 87,362,949 (GRCm39)	T191S	probably damaging	Het
Or8b40	C	T	9: 38,027,148 (GRCm39)	Q19*	probably null	Het
Or9i1	T	A	19: 13,839,170 (GRCm39)	N4K	probably benign	Het
Patl2	T	G	2: 121,955,814 (GRCm39)	T241P	possibly damaging	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Plekhg6	T	C	6: 125,354,342 (GRCm39)		probably benign	Het
Pon1	C	A	6: 5,168,375 (GRCm39)	G344V	probably damaging	Het
Prdm15	A	G	16: 97,623,142 (GRCm39)	S203P	probably benign	Het
Psmc2	T	A	5: 22,000,098 (GRCm39)		probably null	Het
Ptn	T	C	6: 36,692,653 (GRCm39)	M166V	unknown	Het
Ptpn13	A	G	5: 103,649,769 (GRCm39)	N391D	probably benign	Het
Rnf214	A	G	9: 45,780,841 (GRCm39)	S383P	probably damaging	Het
Rufy4	T	A	1: 74,173,348 (GRCm39)	L438H	probably damaging	Het
Scarf2	A	G	16: 17,621,608 (GRCm39)	T353A	probably damaging	Het
Serpinb9e	A	C	13: 33,441,742 (GRCm39)	I225L	probably benign	Het
Slc25a40	T	C	5: 8,503,219 (GRCm39)	V312A	probably benign	Het
Tmc3	A	G	7: 83,271,827 (GRCm39)	Y993C	possibly damaging	Het
Trim56	A	C	5: 137,141,930 (GRCm39)	C529G	probably damaging	Het
Trim8	T	C	19: 46,503,917 (GRCm39)	S490P	probably damaging	Het
Trmt6	A	T	2: 132,652,357 (GRCm39)	Y147*	probably null	Het
Vmn2r109	T	A	17: 20,760,963 (GRCm39)	H798L	probably damaging	Het
Vps35	A	G	8: 86,013,018 (GRCm39)	L153P	probably damaging	Het
Wdr82	T	C	9: 106,060,880 (GRCm39)	I131T	probably damaging	Het
Zfp69	A	T	4: 120,788,660 (GRCm39)	D218E	probably benign	Het

Other mutations in Ppp1r21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01753:Ppp1r21	APN	17	88,869,530 (GRCm39)	splice site	probably benign
IGL02366:Ppp1r21	APN	17	88,855,090 (GRCm39)	missense	probably damaging	0.99
IGL02680:Ppp1r21	APN	17	88,891,290 (GRCm39)	missense	probably benign	0.00
R0266:Ppp1r21	UTSW	17	88,876,500 (GRCm39)	splice site	probably benign
R0436:Ppp1r21	UTSW	17	88,873,117 (GRCm39)	missense	possibly damaging	0.96
R1398:Ppp1r21	UTSW	17	88,850,307 (GRCm39)	missense	probably damaging	1.00
R1472:Ppp1r21	UTSW	17	88,866,033 (GRCm39)	missense	probably damaging	1.00
R1599:Ppp1r21	UTSW	17	88,880,055 (GRCm39)	missense	probably benign	0.00
R1677:Ppp1r21	UTSW	17	88,858,097 (GRCm39)	missense	probably benign	0.04
R1760:Ppp1r21	UTSW	17	88,869,653 (GRCm39)	missense	possibly damaging	0.78
R2571:Ppp1r21	UTSW	17	88,852,810 (GRCm39)	missense	probably benign	0.06
R3700:Ppp1r21	UTSW	17	88,889,882 (GRCm39)	missense	possibly damaging	0.88
R3786:Ppp1r21	UTSW	17	88,884,555 (GRCm39)	splice site	probably null
R3959:Ppp1r21	UTSW	17	88,857,244 (GRCm39)	missense	probably damaging	1.00
R4649:Ppp1r21	UTSW	17	88,856,941 (GRCm39)	missense	probably benign
R4654:Ppp1r21	UTSW	17	88,866,227 (GRCm39)	missense	probably benign	0.01
R4724:Ppp1r21	UTSW	17	88,863,019 (GRCm39)	nonsense	probably null
R4766:Ppp1r21	UTSW	17	88,880,043 (GRCm39)	missense	probably benign	0.00
R4933:Ppp1r21	UTSW	17	88,855,049 (GRCm39)	missense	probably benign	0.07
R4934:Ppp1r21	UTSW	17	88,852,804 (GRCm39)	missense	probably damaging	0.98
R4934:Ppp1r21	UTSW	17	88,852,803 (GRCm39)	missense	probably damaging	1.00
R4992:Ppp1r21	UTSW	17	88,876,508 (GRCm39)	missense	probably benign	0.44
R5109:Ppp1r21	UTSW	17	88,866,268 (GRCm39)	missense	probably damaging	1.00
R5372:Ppp1r21	UTSW	17	88,858,103 (GRCm39)	missense	probably benign	0.21
R5861:Ppp1r21	UTSW	17	88,889,937 (GRCm39)	missense	probably damaging	1.00
R6200:Ppp1r21	UTSW	17	88,876,613 (GRCm39)	missense	possibly damaging	0.65
R6369:Ppp1r21	UTSW	17	88,889,840 (GRCm39)	splice site	probably null
R7060:Ppp1r21	UTSW	17	88,887,972 (GRCm39)	missense	probably damaging	1.00
R7154:Ppp1r21	UTSW	17	88,862,314 (GRCm39)	missense	probably damaging	0.99
R7390:Ppp1r21	UTSW	17	88,856,958 (GRCm39)	missense	probably benign	0.26
R7470:Ppp1r21	UTSW	17	88,869,649 (GRCm39)	missense	probably damaging	1.00
R7475:Ppp1r21	UTSW	17	88,863,031 (GRCm39)	missense	probably benign	0.07
R7657:Ppp1r21	UTSW	17	88,863,110 (GRCm39)	missense	probably damaging	1.00
R8021:Ppp1r21	UTSW	17	88,856,935 (GRCm39)	missense	probably benign	0.00
R8081:Ppp1r21	UTSW	17	88,866,272 (GRCm39)	missense	probably damaging	1.00
R9272:Ppp1r21	UTSW	17	88,866,086 (GRCm39)	missense	possibly damaging	0.69
R9377:Ppp1r21	UTSW	17	88,852,815 (GRCm39)	nonsense	probably null

Posted On

2015-04-16