Mutagenetix > Incidental Mutation

Incidental Mutation 'R4901:Pp2d1'

376185

Institutional Source

Beutler Lab

Gene Symbol

Pp2d1

Ensembl Gene

ENSMUSG00000044957

Gene Name

protein phosphatase 2C-like domain containing 1

Synonyms

4921523A10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R4901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53814488-53846479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 53822037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 343 (G343V)

Ref Sequence

ENSEMBL: ENSMUSP00000056682 (fasta)

Gene Model

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

AlphaFold

Q8BVT6

Predicted Effect

probably benign
Transcript: ENSMUST00000056198
AA Change: G343V

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000056682
Gene: ENSMUSG00000044957
AA Change: G343V

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	C	T	9: 44,188,954 (GRCm39)		probably null	Het
Arg2	T	C	12: 79,194,485 (GRCm39)	V103A	probably damaging	Het
Bicra	T	A	7: 15,721,526 (GRCm39)	T664S	possibly damaging	Het
Bptf	A	T	11: 107,001,686 (GRCm39)	Y475*	probably null	Het
Calcrl	T	C	2: 84,163,857 (GRCm39)	I445V	probably benign	Het
Ccdc110	G	A	8: 46,396,437 (GRCm39)	R776Q	probably benign	Het
Ccnc	A	G	4: 21,727,894 (GRCm39)	N4S	probably damaging	Het
Ccni	G	A	5: 93,331,003 (GRCm39)	R323W	probably damaging	Het
Celsr2	T	A	3: 108,314,303 (GRCm39)	M1241L	possibly damaging	Het
Cpd	T	C	11: 76,681,707 (GRCm39)	I1145M	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2j8	T	A	4: 96,367,323 (GRCm39)	D265V	probably benign	Het
Dennd2a	T	C	6: 39,499,621 (GRCm39)	T315A	probably benign	Het
Dgkz	T	A	2: 91,767,076 (GRCm39)	Q905L	probably benign	Het
Dnah8	G	A	17: 31,059,688 (GRCm39)		probably null	Het
Elp2	A	G	18: 24,752,542 (GRCm39)	H365R	probably damaging	Het
Gm136	G	A	4: 34,746,580 (GRCm39)	Q144*	probably null	Het
Gon4l	T	C	3: 88,815,458 (GRCm39)	V2008A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Isyna1	A	T	8: 71,049,246 (GRCm39)	H414L	probably damaging	Het
Kif20b	A	G	19: 34,911,836 (GRCm39)	Y233C	probably benign	Het
Klk1	A	T	7: 43,878,139 (GRCm39)	I132F	probably damaging	Het
Klre1	A	T	6: 129,561,188 (GRCm39)	H183L	probably benign	Het
Lrp1b	T	C	2: 40,711,657 (GRCm39)	T3188A	probably damaging	Het
Mapk12	A	T	15: 89,018,841 (GRCm39)	L198*	probably null	Het
Mt4	A	C	8: 94,864,912 (GRCm39)	T29P	possibly damaging	Het
Myh14	C	T	7: 44,310,464 (GRCm39)	V140I	probably damaging	Het
Nr1h4	T	C	10: 89,314,659 (GRCm39)	Q269R	possibly damaging	Het
Or4p23	C	G	2: 88,577,231 (GRCm39)		probably null	Het
Or51e1	A	G	7: 102,359,405 (GRCm39)	H313R	probably benign	Het
Pde1b	A	G	15: 103,435,112 (GRCm39)	I421V	probably null	Het
Pde3b	A	T	7: 114,107,425 (GRCm39)	T519S	probably damaging	Het
Phf21a	T	A	2: 92,187,346 (GRCm39)	C178*	probably null	Het
Phtf2	A	G	5: 21,010,722 (GRCm39)	S88P	possibly damaging	Het
Pik3c3	A	G	18: 30,435,982 (GRCm39)	M394V	possibly damaging	Het
Plxnb1	C	T	9: 108,934,027 (GRCm39)	P752S	probably benign	Het
Ppp6r2	A	G	15: 89,143,272 (GRCm39)	I140V	possibly damaging	Het
Ppp6r3	C	A	19: 3,517,229 (GRCm39)	V75L	probably damaging	Het
Ptprq	T	A	10: 107,524,275 (GRCm39)	H486L	probably benign	Het
Rasgrf1	C	T	9: 89,877,056 (GRCm39)	T807M	probably benign	Het
Rasgrp3	C	A	17: 75,821,111 (GRCm39)	Y439*	probably null	Het
Rbm44	A	G	1: 91,081,050 (GRCm39)	T413A	probably benign	Het
Rnf135	T	C	11: 80,089,662 (GRCm39)	C333R	probably damaging	Het
Scfd2	A	G	5: 74,680,226 (GRCm39)	V309A	probably damaging	Het
Semp2l1	T	C	1: 32,585,701 (GRCm39)	S70G	probably benign	Het
Serpina3m	A	T	12: 104,355,908 (GRCm39)	K192*	probably null	Het
Sft2d1rt	A	G	11: 45,942,656 (GRCm39)	S156P	probably damaging	Het
Sh3tc2	A	G	18: 62,123,506 (GRCm39)	I756V	probably benign	Het
Slc27a4	T	C	2: 29,702,648 (GRCm39)	V516A	probably damaging	Het
Sult2a5	T	A	7: 13,359,188 (GRCm39)	C55S	probably benign	Het
Tars3	C	T	7: 65,341,042 (GRCm39)	T783M	probably benign	Het
Tet2	A	T	3: 133,172,805 (GRCm39)	I1819N	possibly damaging	Het
Timeless	T	C	10: 128,086,631 (GRCm39)	F1057L	probably damaging	Het
Ttn	T	A	2: 76,628,418 (GRCm39)	I12835F	probably damaging	Het
Uhrf1	T	A	17: 56,617,834 (GRCm39)	D185E	probably benign	Het
Vmn2r74	G	T	7: 85,605,199 (GRCm39)	S483*	probably null	Het
Xpo1	A	T	11: 23,231,327 (GRCm39)	I304F	possibly damaging	Het
Zc3h11a	A	G	1: 133,552,449 (GRCm39)	S553P	probably benign	Het
Zdhhc1	A	G	8: 106,199,484 (GRCm39)	S402P	probably benign	Het
Zwilch	T	C	9: 64,070,028 (GRCm39)	Y101C	probably damaging	Het

Other mutations in Pp2d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Pp2d1	APN	17	53,822,667 (GRCm39)	missense	probably benign	0.00
IGL01939:Pp2d1	APN	17	53,822,167 (GRCm39)	missense	probably damaging	1.00
IGL02031:Pp2d1	APN	17	53,815,468 (GRCm39)	missense	probably damaging	1.00
IGL02039:Pp2d1	APN	17	53,823,022 (GRCm39)	nonsense	probably null
IGL02108:Pp2d1	APN	17	53,822,433 (GRCm39)	missense	probably damaging	1.00
IGL02121:Pp2d1	APN	17	53,814,949 (GRCm39)	missense	probably damaging	1.00
IGL03034:Pp2d1	APN	17	53,815,081 (GRCm39)	missense	possibly damaging	0.88
R0483:Pp2d1	UTSW	17	53,814,999 (GRCm39)	missense	probably benign	0.29
R0562:Pp2d1	UTSW	17	53,846,196 (GRCm39)	splice site	probably benign
R1416:Pp2d1	UTSW	17	53,822,835 (GRCm39)	missense	probably benign	0.07
R1464:Pp2d1	UTSW	17	53,823,015 (GRCm39)	missense	possibly damaging	0.94
R1464:Pp2d1	UTSW	17	53,823,015 (GRCm39)	missense	possibly damaging	0.94
R1479:Pp2d1	UTSW	17	53,814,883 (GRCm39)	missense	probably benign	0.05
R1659:Pp2d1	UTSW	17	53,822,406 (GRCm39)	missense	possibly damaging	0.50
R1711:Pp2d1	UTSW	17	53,822,338 (GRCm39)	missense	possibly damaging	0.47
R2214:Pp2d1	UTSW	17	53,822,424 (GRCm39)	missense	probably benign	0.01
R2217:Pp2d1	UTSW	17	53,822,482 (GRCm39)	missense	probably benign	0.02
R2218:Pp2d1	UTSW	17	53,822,482 (GRCm39)	missense	probably benign	0.02
R4463:Pp2d1	UTSW	17	53,822,886 (GRCm39)	missense	probably benign
R4644:Pp2d1	UTSW	17	53,823,015 (GRCm39)	missense	probably benign	0.00
R5164:Pp2d1	UTSW	17	53,815,098 (GRCm39)	missense	probably benign	0.11
R5169:Pp2d1	UTSW	17	53,814,930 (GRCm39)	missense	possibly damaging	0.78
R5186:Pp2d1	UTSW	17	53,815,168 (GRCm39)	missense	probably benign
R5223:Pp2d1	UTSW	17	53,814,873 (GRCm39)	missense	probably benign	0.12
R6550:Pp2d1	UTSW	17	53,822,604 (GRCm39)	missense	probably damaging	0.98
R6918:Pp2d1	UTSW	17	53,822,487 (GRCm39)	missense	probably damaging	0.99
R7263:Pp2d1	UTSW	17	53,822,358 (GRCm39)	missense	probably benign	0.00
R7623:Pp2d1	UTSW	17	53,822,907 (GRCm39)	missense	probably benign	0.00
R7712:Pp2d1	UTSW	17	53,815,318 (GRCm39)	missense	possibly damaging	0.63
R8062:Pp2d1	UTSW	17	53,822,798 (GRCm39)	missense	probably benign	0.01
R8165:Pp2d1	UTSW	17	53,822,257 (GRCm39)	missense	probably damaging	1.00
R8694:Pp2d1	UTSW	17	53,815,191 (GRCm39)	missense	probably benign	0.01
R8815:Pp2d1	UTSW	17	53,814,897 (GRCm39)	missense	probably benign	0.41
R9704:Pp2d1	UTSW	17	53,822,907 (GRCm39)	missense	probably benign	0.00
X0019:Pp2d1	UTSW	17	53,822,575 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- GTGTCTGCAGTCTATTTAAACTGG -3'
(R):5'- GAGGATACACACAAAGCCTTTGC -3'

Sequencing Primer
(F):5'- TTTCTTAGTTGTTCAGTGCAATTTC -3'
(R):5'- CAAAGGCATTTTGGAGAATGGATAG -3'

Posted On

2016-03-17