Mutagenetix > Incidental Mutation

Incidental Mutation 'R5223:Pp2d1'

402465

Institutional Source

Beutler Lab

Gene Symbol

Pp2d1

Ensembl Gene

ENSMUSG00000044957

Gene Name

protein phosphatase 2C-like domain containing 1

Synonyms

MMRRC Submission

042796-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5223 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53507460-53539451 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53507845 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 617 (H617R)

Ref Sequence

ENSEMBL: ENSMUSP00000056682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017975] [ENSMUST00000056198]

AlphaFold

Q8BVT6

Predicted Effect

probably benign
Transcript: ENSMUST00000017975

SMART Domains

Protein: ENSMUSP00000017975
Gene: ENSMUSG00000017831

Domain	Start	End	E-Value	Type
RAB	21	184	4.91e-96	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000056198
AA Change: H617R

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000056682
Gene: ENSMUSG00000044957
AA Change: H617R

Domain	Start	End	E-Value	Type
PP2Cc	173	609	4.04e-18	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 120,013,452	V273M	possibly damaging	Het
Acin1	CCGC	CC	14: 54,642,941		probably null	Het
Acvr1b	T	A	15: 101,193,976	C46S	probably damaging	Het
Ahi1	A	T	10: 20,970,919	H416L	possibly damaging	Het
Aspm	T	A	1: 139,478,334	L1653Q	probably damaging	Het
Cacna1a	G	A	8: 84,587,195	V1533M	possibly damaging	Het
Ccdc33	C	T	9: 58,032,984	E502K	possibly damaging	Het
Ctnnd1	C	T	2: 84,616,789	V371M	probably damaging	Het
Cyp2a12	A	T	7: 27,036,463		probably null	Het
Ep400	A	G	5: 110,668,630	V2675A	probably damaging	Het
Foxh1	T	A	15: 76,668,729		probably null	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gm10093	A	G	17: 78,492,438	E286G	probably benign	Het
Gm13078	T	A	4: 143,728,021	S296R	probably benign	Het
Gpnmb	C	T	6: 49,056,205	T539M	probably benign	Het
Hspa9	A	G	18: 34,952,671		probably null	Het
Hspg2	T	C	4: 137,543,914	L2454P	probably damaging	Het
Ift140	T	A	17: 25,035,812	I422N	probably benign	Het
Igkv6-32	T	C	6: 70,074,223	S50G	probably benign	Het
Il23r	T	A	6: 67,486,170	Y113F	probably benign	Het
Kcnt1	A	G	2: 25,903,422	D636G	probably benign	Het
Klhl41	G	A	2: 69,679,827	W569*	probably null	Het
Klra4	T	A	6: 130,062,147	D94V	probably damaging	Het
Lca5	T	A	9: 83,398,613	H378L	probably benign	Het
Lhx8	T	A	3: 154,321,644	T254S	probably damaging	Het
Lrch3	C	T	16: 32,914,397	R86W	probably damaging	Het
Lrp2	T	A	2: 69,524,053	N477I	probably damaging	Het
Man2a1	T	A	17: 64,712,271	I710K	probably benign	Het
Ncor1	A	T	11: 62,339,000	Y881N	probably damaging	Het
Nhsl1	T	A	10: 18,526,326	V1100E	probably damaging	Het
Olfr1208	T	C	2: 88,897,334	T88A	probably benign	Het
Olfr486	A	G	7: 108,172,708	V12A	probably benign	Het
Olfr855	T	C	9: 19,585,026	V163A	probably benign	Het
Oprk1	T	C	1: 5,589,296	V83A	probably benign	Het
Pacs1	C	T	19: 5,145,141	V472I	probably benign	Het
Pard3b	T	C	1: 62,344,113	Y789H	probably damaging	Het
Pcdha2	T	C	18: 36,940,791	Y492H	probably damaging	Het
Pcnt	T	C	10: 76,380,272	N2261D	probably damaging	Het
Pex5l	A	T	3: 32,958,796	S15T	probably damaging	Het
Plekhg4	A	G	8: 105,378,949	N682S	probably benign	Het
Poc5	A	T	13: 96,402,955	M335L	probably benign	Het
Polr1a	C	T	6: 71,967,907	R1316W	possibly damaging	Het
Prpsap1	T	C	11: 116,488,148	K65E	probably benign	Het
Ptgfrn	T	C	3: 101,045,593	E775G	probably benign	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Rbbp8	C	A	18: 11,721,690	A324E	probably benign	Het
Rfx6	G	T	10: 51,677,996	G63*	probably null	Het
Rpl37a	T	C	1: 72,712,149	M47T	probably benign	Het
Samm50	T	G	15: 84,200,630	N187K	probably benign	Het
Skiv2l	A	G	17: 34,845,166		probably null	Het
Slamf9	T	C	1: 172,476,232	I48T	possibly damaging	Het
Slc2a12	A	G	10: 22,702,032	K576E	probably damaging	Het
Slc4a10	G	A	2: 62,253,366	G388S	probably damaging	Het
Smtn	G	T	11: 3,529,530	N512K	probably benign	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Sspo	A	G	6: 48,478,324	Y3040C	probably damaging	Het
Stat1	T	A	1: 52,144,242	V389E	probably damaging	Het
Sult5a1	A	T	8: 123,145,422	M227K	probably damaging	Het
Thsd4	T	C	9: 60,057,042	D389G	probably damaging	Het
Tnxb	T	C	17: 34,704,078	V2545A	possibly damaging	Het
Tpo	T	A	12: 30,092,590	I712F	probably damaging	Het
Trim62	T	C	4: 128,909,411	V418A	probably damaging	Het
Uqcrc1	C	A	9: 108,942,156	H95N	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r66	T	C	7: 85,007,885	D104G	probably benign	Het
Wdr26	T	C	1: 181,187,686	I371V	probably benign	Het
Wdr78	T	A	4: 103,049,403	S738C	possibly damaging	Het
Zfp273	T	G	13: 67,826,179	C475W	probably damaging	Het
Zfp738	G	T	13: 67,673,063	T55K	probably damaging	Het
Zmym2	A	G	14: 56,946,514	I978V	probably benign	Het

Other mutations in Pp2d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Pp2d1	APN	17	53515639	missense	probably benign	0.00
IGL01939:Pp2d1	APN	17	53515139	missense	probably damaging	1.00
IGL02031:Pp2d1	APN	17	53508440	missense	probably damaging	1.00
IGL02039:Pp2d1	APN	17	53515994	nonsense	probably null
IGL02108:Pp2d1	APN	17	53515405	missense	probably damaging	1.00
IGL02121:Pp2d1	APN	17	53507921	missense	probably damaging	1.00
IGL03034:Pp2d1	APN	17	53508053	missense	possibly damaging	0.88
R0483:Pp2d1	UTSW	17	53507971	missense	probably benign	0.29
R0562:Pp2d1	UTSW	17	53539168	splice site	probably benign
R1416:Pp2d1	UTSW	17	53515807	missense	probably benign	0.07
R1464:Pp2d1	UTSW	17	53515987	missense	possibly damaging	0.94
R1464:Pp2d1	UTSW	17	53515987	missense	possibly damaging	0.94
R1479:Pp2d1	UTSW	17	53507855	missense	probably benign	0.05
R1659:Pp2d1	UTSW	17	53515378	missense	possibly damaging	0.50
R1711:Pp2d1	UTSW	17	53515310	missense	possibly damaging	0.47
R2214:Pp2d1	UTSW	17	53515396	missense	probably benign	0.01
R2217:Pp2d1	UTSW	17	53515454	missense	probably benign	0.02
R2218:Pp2d1	UTSW	17	53515454	missense	probably benign	0.02
R4463:Pp2d1	UTSW	17	53515858	missense	probably benign
R4644:Pp2d1	UTSW	17	53515987	missense	probably benign	0.00
R4901:Pp2d1	UTSW	17	53515009	missense	probably benign	0.20
R5164:Pp2d1	UTSW	17	53508070	missense	probably benign	0.11
R5169:Pp2d1	UTSW	17	53507902	missense	possibly damaging	0.78
R5186:Pp2d1	UTSW	17	53508140	missense	probably benign
R6550:Pp2d1	UTSW	17	53515576	missense	probably damaging	0.98
R6918:Pp2d1	UTSW	17	53515459	missense	probably damaging	0.99
R7263:Pp2d1	UTSW	17	53515330	missense	probably benign	0.00
R7623:Pp2d1	UTSW	17	53515879	missense	probably benign	0.00
R7712:Pp2d1	UTSW	17	53508290	missense	possibly damaging	0.63
R8062:Pp2d1	UTSW	17	53515770	missense	probably benign	0.01
R8165:Pp2d1	UTSW	17	53515229	missense	probably damaging	1.00
R8694:Pp2d1	UTSW	17	53508163	missense	probably benign	0.01
R8815:Pp2d1	UTSW	17	53507869	missense	probably benign	0.41
R9704:Pp2d1	UTSW	17	53515879	missense	probably benign	0.00
X0019:Pp2d1	UTSW	17	53515547	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- AGGAGAACAGTTCACCGGTG -3'
(R):5'- CAGCTTACCCACTATAGACAGTAAG -3'

Sequencing Primer
(F):5'- AGAACAGTTCACCGGTGTTTAG -3'
(R):5'- CACTATAGACAGTAAGCAGGAAAATG -3'

Posted On

2016-07-22