Mutagenetix > Incidental Mutation

Incidental Mutation 'R4933:Ppp1r21'

380745

Institutional Source

Beutler Lab

Gene Symbol

Ppp1r21

Ensembl Gene

ENSMUSG00000034709

Gene Name

protein phosphatase 1, regulatory subunit 21

Synonyms

Klraq1, 1110018J12Rik, Ccdc128

MMRRC Submission

042533-MU

Accession Numbers

Essential gene?

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

Stock #

R4933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88530118-88588367 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88547621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 109 (D109E)

Ref Sequence

ENSEMBL: ENSMUSP00000048443 (fasta)

Gene Model

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

AlphaFold

Q3TDD9

Predicted Effect

probably benign
Transcript: ENSMUST00000038551
AA Change: D109E

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000048443
Gene: ENSMUSG00000034709
AA Change: D109E

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: ENSMUST00000189734

Meta Mutation Damage Score

0.0617

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,626,802	E643G	probably damaging	Het
4430402I18Rik	G	T	19: 28,941,775	H195N	possibly damaging	Het
Abca2	T	C	2: 25,444,827	V1937A	probably benign	Het
Acot10	A	T	15: 20,666,330	N108K	possibly damaging	Het
Agtpbp1	A	T	13: 59,500,572	M478K	probably benign	Het
Akirin1	G	A	4: 123,736,858	S191F	probably damaging	Het
Aurkb	T	C	11: 69,048,144		probably benign	Het
Cabyr	T	C	18: 12,744,492		probably benign	Het
Ccp110	A	G	7: 118,725,319	E688G	probably damaging	Het
Champ1	T	A	8: 13,879,137	S432T	probably benign	Het
Crybg1	T	A	10: 43,999,213	N633I	probably damaging	Het
Dagla	A	T	19: 10,269,715		probably null	Het
Dkkl1	A	T	7: 45,211,525	L10Q	probably null	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
E430018J23Rik	A	G	7: 127,393,349	Y30H	probably damaging	Het
Fndc7	G	T	3: 108,876,670	Q208K	probably benign	Het
Gins4	A	T	8: 23,234,780	C53S	probably damaging	Het
Gja8	T	A	3: 96,919,035		probably benign	Het
Golph3l	T	A	3: 95,617,423	N328K	probably benign	Het
Haus6	A	C	4: 86,585,287		probably benign	Het
Hdac5	A	G	11: 102,200,563		probably benign	Het
Ide	A	G	19: 37,277,756	Y883H	unknown	Het
Igf2r	A	G	17: 12,691,877		probably null	Het
Kdm3b	T	C	18: 34,810,393	Y723H	probably damaging	Het
Kif21b	G	A	1: 136,151,325		probably null	Het
Lancl1	A	T	1: 67,021,034	N77K	probably benign	Het
Lyst	T	A	13: 13,637,764	N920K	probably damaging	Het
Lyst	G	A	13: 13,759,378	V3554I	probably benign	Het
Map1a	G	A	2: 121,305,905	A2163T	probably damaging	Het
Mapk7	G	T	11: 61,493,908		probably benign	Het
Myo10	C	A	15: 25,781,118	Q154K	probably damaging	Het
Olfr13	C	T	6: 43,174,321	L112F	probably benign	Het
Olfr132	A	G	17: 38,130,550	I214T	probably damaging	Het
Pcdhgb2	G	A	18: 37,692,214	V753M	probably benign	Het
Pnn	T	A	12: 59,070,227	L195Q	probably damaging	Het
Pot1a	A	G	6: 25,771,541	V227A	possibly damaging	Het
Prr15l	G	A	11: 96,934,762	G73S	probably damaging	Het
Rnf148	A	G	6: 23,654,340	F219S	probably benign	Het
Rnpep	C	A	1: 135,267,026		probably benign	Het
Ryr1	T	C	7: 29,104,298	T643A	probably damaging	Het
Ryr2	A	T	13: 11,945,945	C36S	probably damaging	Het
Shc3	G	T	13: 51,442,769	T406N	probably benign	Het
Slit3	G	T	11: 35,688,593	G1199V	probably damaging	Het
Sptbn5	G	A	2: 120,050,120		noncoding transcript	Het
St8sia6	T	C	2: 13,665,442	N236D	probably damaging	Het
Stpg1	A	T	4: 135,506,416	Q3L	probably benign	Het
Sult3a1	T	A	10: 33,866,554	I59N	probably damaging	Het
Svs1	T	C	6: 48,987,492	S145P	probably damaging	Het
Vmn1r208	T	G	13: 22,772,788	I180L	probably benign	Het
Vmn2r51	A	T	7: 10,098,320	N446K	probably damaging	Het
Vmn2r63	A	T	7: 42,903,978	I618N	probably damaging	Het
Wrn	T	C	8: 33,322,343	N182S	probably benign	Het
Zfp296	G	T	7: 19,579,712	C164F	possibly damaging	Het
Zmynd8	A	G	2: 165,834,951	V249A	possibly damaging	Het
Zswim2	A	G	2: 83,925,227	L110P	probably damaging	Het

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
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
R6369:Ppp1r21	UTSW	17	88582412	splice site	probably null
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'- ACCATGTGACTTCTGTAGGGATG -3'
(R):5'- GCCAGTTACACTACTTCAAACG -3'

Sequencing Primer
(F):5'- ACTTCTGTAGGGATGCTTGAAAATG -3'
(R):5'- CAAACGCTCACTTATCTATTGTGGG -3'

Posted On

2016-04-15