Mutagenetix > Incidental Mutation

Incidental Mutation 'R6369:Ppp1r21'

512878

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r21

Ensembl Gene

ENSMUSG00000034709

Gene Name

protein phosphatase 1, regulatory subunit 21

Synonyms

Klraq1, 1110018J12Rik, Ccdc128

MMRRC Submission

044519-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.364) question?

Stock #

R6369 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88530118-88588367 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 88582412 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000048443 (fasta)

Gene Model

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

AlphaFold

Q3TDD9

Predicted Effect

probably null
Transcript: ENSMUST00000038551

SMART Domains

Protein: ENSMUSP00000048443
Gene: ENSMUSG00000034709

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: ENSMUST00000185400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190136

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	C	T	17: 13,835,343	R571*	probably null	Het
Asb18	A	T	1: 90,014,471	I36N	probably damaging	Het
Ascc3	G	A	10: 50,699,985	G779S	probably damaging	Het
Atl2	T	C	17: 79,854,555	Q205R	probably damaging	Het
Axdnd1	A	G	1: 156,392,745	I235T	probably damaging	Het
Bri3bp	A	G	5: 125,454,701	N237S	probably damaging	Het
Ccdc191	A	G	16: 43,915,485	N256S	probably benign	Het
Cchcr1	T	C	17: 35,528,176	I474T	probably damaging	Het
Cd209c	T	C	8: 3,944,984	Y60C	probably damaging	Het
Cd300c	C	A	11: 114,957,555	D171Y	probably damaging	Het
Crb1	C	T	1: 139,237,462	V975M	probably damaging	Het
Csmd1	C	T	8: 17,535,004		probably benign	Het
Ctnna2	A	G	6: 76,980,695	S524P	possibly damaging	Het
Eno1	T	C	4: 150,239,568		probably null	Het
Ero1l	T	C	14: 45,299,958	I170M	probably damaging	Het
Fam186a	A	G	15: 99,947,331	M344T	unknown	Het
Frem1	A	T	4: 82,913,792		probably null	Het
Gjb5	G	T	4: 127,355,930	D140E	possibly damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Hk2	G	T	6: 82,736,753	S449R	probably damaging	Het
Hs3st3a1	A	T	11: 64,520,601	I322F	probably benign	Het
Itga1	T	C	13: 114,965,660	I1145V	probably damaging	Het
Kcp	A	G	6: 29,484,694	L1295S	probably damaging	Het
Macf1	T	C	4: 123,410,562	D49G	possibly damaging	Het
Mef2b	T	A	8: 70,165,559	D96E	probably benign	Het
Megf10	A	T	18: 57,261,187	D461V	probably benign	Het
Myom1	T	C	17: 71,101,076	S1104P	probably damaging	Het
Nab1	A	G	1: 52,490,222	L172P	probably damaging	Het
Olfr123	T	G	17: 37,795,496	D17E	probably benign	Het
Pate1	A	G	9: 35,687,028	V18A	probably benign	Het
Pink1	T	C	4: 138,320,734		probably null	Het
Pnpla1	T	A	17: 28,878,481	I207N	probably damaging	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Rad52	A	G	6: 119,914,207	E76G	unknown	Het
Rad54l	A	G	4: 116,111,189		probably null	Het
Rasgrf2	T	C	13: 92,131,446	M17V	probably benign	Het
Rbm42	A	G	7: 30,641,313	M411T	unknown	Het
Reln	A	G	5: 22,051,361	I495T	probably benign	Het
Rnf224	A	G	2: 25,235,942	F133S	probably damaging	Het
Rrm1	C	A	7: 102,446,702	H87Q	probably damaging	Het
Sec14l2	T	C	11: 4,103,962	D235G	possibly damaging	Het
Serpinb3d	G	T	1: 107,080,753	N127K	probably benign	Het
Skint7	A	T	4: 111,980,293	E89D	probably benign	Het
Slc22a5	T	G	11: 53,891,370	N57T	probably damaging	Het
Smarcd3	A	T	5: 24,594,984	F263I	probably damaging	Het
Sncaip	A	G	18: 52,868,604	I66V	probably damaging	Het
Syngr1	A	C	15: 80,115,590		probably benign	Het
Tbc1d2	A	G	4: 46,614,420	Y554H	probably benign	Het
Tmem198	T	C	1: 75,479,743	V44A	probably benign	Het
Trappc11	T	C	8: 47,512,285		probably null	Het
Uox	C	T	3: 146,624,577	R163*	probably null	Het
Vmn2r111	C	T	17: 22,548,602	C638Y	probably damaging	Het
Washc4	A	G	10: 83,574,444	Y632C	probably damaging	Het
Zfp212	T	C	6: 47,930,897	V270A	probably benign	Het
Zfp92	G	A	X: 73,421,968	R189H	possibly damaging	Homo

Other mutations in Ppp1r21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01753:Ppp1r21	APN	17	88562102	splice site	probably benign
IGL02366:Ppp1r21	APN	17	88547662	missense	probably damaging	0.99
IGL02604:Ppp1r21	APN	17	88572743	missense	probably benign	0.00
IGL02680:Ppp1r21	APN	17	88583862	missense	probably benign	0.00
R0266:Ppp1r21	UTSW	17	88569072	splice site	probably benign
R0436:Ppp1r21	UTSW	17	88565689	missense	possibly damaging	0.96
R1398:Ppp1r21	UTSW	17	88542879	missense	probably damaging	1.00
R1472:Ppp1r21	UTSW	17	88558605	missense	probably damaging	1.00
R1599:Ppp1r21	UTSW	17	88572627	missense	probably benign	0.00
R1677:Ppp1r21	UTSW	17	88550669	missense	probably benign	0.04
R1760:Ppp1r21	UTSW	17	88562225	missense	possibly damaging	0.78
R2571:Ppp1r21	UTSW	17	88545382	missense	probably benign	0.06
R3700:Ppp1r21	UTSW	17	88582454	missense	possibly damaging	0.88
R3786:Ppp1r21	UTSW	17	88577127	splice site	probably null
R3959:Ppp1r21	UTSW	17	88549816	missense	probably damaging	1.00
R4649:Ppp1r21	UTSW	17	88549513	missense	probably benign
R4654:Ppp1r21	UTSW	17	88558799	missense	probably benign	0.01
R4724:Ppp1r21	UTSW	17	88555591	nonsense	probably null
R4766:Ppp1r21	UTSW	17	88572615	missense	probably benign	0.00
R4933:Ppp1r21	UTSW	17	88547621	missense	probably benign	0.07
R4934:Ppp1r21	UTSW	17	88545375	missense	probably damaging	1.00
R4934:Ppp1r21	UTSW	17	88545376	missense	probably damaging	0.98
R4992:Ppp1r21	UTSW	17	88569080	missense	probably benign	0.44
R5109:Ppp1r21	UTSW	17	88558840	missense	probably damaging	1.00
R5372:Ppp1r21	UTSW	17	88550675	missense	probably benign	0.21
R5861:Ppp1r21	UTSW	17	88582509	missense	probably damaging	1.00
R6200:Ppp1r21	UTSW	17	88569185	missense	possibly damaging	0.65
R7060:Ppp1r21	UTSW	17	88580544	missense	probably damaging	1.00
R7154:Ppp1r21	UTSW	17	88554886	missense	probably damaging	0.99
R7390:Ppp1r21	UTSW	17	88549530	missense	probably benign	0.26
R7470:Ppp1r21	UTSW	17	88562221	missense	probably damaging	1.00
R7475:Ppp1r21	UTSW	17	88555603	missense	probably benign	0.07
R7657:Ppp1r21	UTSW	17	88555682	missense	probably damaging	1.00
R8021:Ppp1r21	UTSW	17	88549507	missense	probably benign	0.00
R8081:Ppp1r21	UTSW	17	88558844	missense	probably damaging	1.00
R9272:Ppp1r21	UTSW	17	88558658	missense	possibly damaging	0.69
R9377:Ppp1r21	UTSW	17	88545387	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTTATGTGCTTGTAACCATTGGC -3'
(R):5'- GTGGAGCATGTGTCAAGACC -3'

Sequencing Primer
(F):5'- ACCATTGGCCATTAGACTGCTGAG -3'
(R):5'- TGTGTCAAGACCAGACATCACTG -3'

Posted On

2018-04-27