Mutagenetix > Incidental Mutation

Incidental Mutation 'R6918:Pp2d1'

539468

Institutional Source

Beutler Lab

Gene Symbol

Pp2d1

Ensembl Gene

ENSMUSG00000044957

Gene Name

protein phosphatase 2C-like domain containing 1

Synonyms

4921523A10Rik

MMRRC Submission

045005-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R6918 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53814488-53846479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 53822487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 193 (T193M)

Ref Sequence

ENSEMBL: ENSMUSP00000056682 (fasta)

Gene Model

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

AlphaFold

Q8BVT6

Predicted Effect

probably damaging
Transcript: ENSMUST00000056198
AA Change: T193M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000056682
Gene: ENSMUSG00000044957
AA Change: T193M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	C	17: 24,627,632 (GRCm39)	K1359Q	probably damaging	Het
Ace	T	C	11: 105,863,769 (GRCm39)	Y406H	probably damaging	Het
Acsl6	A	G	11: 54,232,582 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,599,643 (GRCm39)	Y1959N	possibly damaging	Het
Chrna7	T	A	7: 62,809,299 (GRCm39)	I76F	probably benign	Het
Cuedc1	C	T	11: 88,077,899 (GRCm39)	T296I	probably benign	Het
Ddc	A	G	11: 11,769,307 (GRCm39)	V409A	probably damaging	Het
Dhx8	T	A	11: 101,629,247 (GRCm39)	Y212*	probably null	Het
Dnah6	T	A	6: 73,158,738 (GRCm39)	K622*	probably null	Het
Dscaml1	A	G	9: 45,341,805 (GRCm39)	H72R	probably benign	Het
Dyrk1b	A	G	7: 27,885,350 (GRCm39)	D396G	probably damaging	Het
Gstm2	A	G	3: 107,892,557 (GRCm39)		probably null	Het
Hsd3b1	A	G	3: 98,760,425 (GRCm39)	Y189H	probably damaging	Het
Kif1c	G	A	11: 70,597,813 (GRCm39)	E356K	probably damaging	Het
Kirrel2	A	C	7: 30,150,239 (GRCm39)	C17G	probably damaging	Het
Klhl12	A	G	1: 134,403,584 (GRCm39)	H259R	possibly damaging	Het
Krt1	A	G	15: 101,758,612 (GRCm39)	V184A	probably damaging	Het
Lmod2	A	T	6: 24,603,594 (GRCm39)	N190Y	probably benign	Het
Lrp2	A	C	2: 69,319,649 (GRCm39)	V1958G	probably damaging	Het
Ly6h	T	C	15: 75,437,507 (GRCm39)	S37G	probably damaging	Het
Man2a2	A	T	7: 80,002,940 (GRCm39)	H1056Q	possibly damaging	Het
Misp3	T	G	8: 84,738,313 (GRCm39)	M1L	probably benign	Het
Mixl1	T	A	1: 180,522,243 (GRCm39)	I213F	probably benign	Het
Morc3	T	C	16: 93,650,023 (GRCm39)	I268T	probably benign	Het
Mtx2	C	T	2: 74,706,697 (GRCm39)	T224I	probably damaging	Het
Or8c15	G	A	9: 38,120,948 (GRCm39)	V198M	possibly damaging	Het
Oscp1	A	C	4: 125,970,571 (GRCm39)	D120A	possibly damaging	Het
Parp1	G	A	1: 180,416,235 (GRCm39)	V545I	possibly damaging	Het
Pipox	A	G	11: 77,772,380 (GRCm39)	I330T	probably damaging	Het
Pkp2	A	G	16: 16,090,082 (GRCm39)	Y790C	probably damaging	Het
Pomt1	T	A	2: 32,142,873 (GRCm39)		probably null	Het
Prkra	G	T	2: 76,460,797 (GRCm39)	H300Q	probably damaging	Het
Ror2	T	G	13: 53,265,487 (GRCm39)	N523T	probably damaging	Het
Rp1	A	T	1: 4,069,831 (GRCm39)	D1355E	unknown	Het
Rsph4a	T	C	10: 33,781,272 (GRCm39)	Y41H	probably benign	Het
Scn1a	T	A	2: 66,162,557 (GRCm39)	I230F	probably damaging	Het
Taar7e	T	A	10: 23,913,513 (GRCm39)	M1K	probably null	Het
Tex15	T	G	8: 34,063,212 (GRCm39)	L1155V	probably benign	Het
Tmprss3	T	C	17: 31,407,331 (GRCm39)	K321E	probably benign	Het
Trappc14	A	G	5: 138,258,926 (GRCm39)	V211A	probably benign	Het
Tsc2	A	T	17: 24,832,203 (GRCm39)	C728S	probably damaging	Het
Ube2e3	A	T	2: 78,750,383 (GRCm39)	K203M	probably damaging	Het
Unc50	A	T	1: 37,477,783 (GRCm39)	T222S	probably damaging	Het
Vmn1r236	A	T	17: 21,507,878 (GRCm39)	H332L	probably benign	Het
Vmn2r7	G	A	3: 64,598,760 (GRCm39)	T599I	probably benign	Het
Zfp334	A	T	2: 165,223,799 (GRCm39)	D81E	possibly damaging	Het
Zfp710	A	G	7: 79,731,788 (GRCm39)	I322V	possibly 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
R4901:Pp2d1	UTSW	17	53,822,037 (GRCm39)	missense	probably benign	0.20
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
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'- AGTTGCTTCTGCTCAGCTG -3'
(R):5'- GCCCAAACTGGTCAGTCTTC -3'

Sequencing Primer
(F):5'- CAGCTGTCATTTGGTAGGAAGGATC -3'
(R):5'- CCAAACTGGTCAGTCTTCATAGAGAG -3'

Posted On

2018-11-06