Mutagenetix > Incidental Mutations

Incidental Mutation 'R4642:Cpxm2'

351683

Institutional Source

Beutler Lab

Gene Symbol

Cpxm2

Ensembl Gene

ENSMUSG00000030862

Gene Name

carboxypeptidase X 2 (M14 family)

Synonyms

4632435C11Rik

MMRRC Submission

041904-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R4642 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132032687-132154739 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 132070881 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 313 (R313H)

Ref Sequence

ENSEMBL: ENSMUSP00000033149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033149] [ENSMUST00000124096]

Predicted Effect

probably benign
Transcript: ENSMUST00000033149
AA Change: R313H

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000033149
Gene: ENSMUSG00000030862
AA Change: R313H

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	52	59	N/A	INTRINSIC
low complexity region	72	82	N/A	INTRINSIC
low complexity region	87	98	N/A	INTRINSIC
FA58C	143	301	2.18e-46	SMART
Zn_pept	448	736	9.21e-58	SMART
low complexity region	751	764	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127039

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	T	C	8: 79,689,353	T387A	probably damaging	Het
Acaca	A	T	11: 84,280,461	T3S	probably damaging	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
Cacna1g	A	G	11: 94,418,094	I1631T	probably damaging	Het
Camk1g	T	A	1: 193,356,359	D85V	probably damaging	Het
Caskin1	G	A	17: 24,506,628	S1296N	probably benign	Het
Ccbe1	A	T	18: 66,291,583		probably benign	Het
Ccdc184	T	G	15: 98,168,656	V114G	probably benign	Het
Crebrf	G	T	17: 26,743,061	E377D	probably benign	Het
Dcstamp	T	C	15: 39,754,722	F176L	probably benign	Het
Dnah2	T	C	11: 69,496,559	D947G	probably benign	Het
Erbb4	A	G	1: 68,250,632	I750T	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,430,958		probably benign	Het
Gm16391	T	G	17: 76,284,831		noncoding transcript	Het
Gm973	A	T	1: 59,558,114	E434D	probably damaging	Het
Hdac7	T	C	15: 97,806,516	E491G	probably damaging	Het
Hyal5	A	G	6: 24,876,622	N165D	probably benign	Het
Ly86	A	T	13: 37,376,901	R79S	possibly damaging	Het
Mapk7	A	G	11: 61,490,901	I13T	probably damaging	Het
Medag	T	A	5: 149,411,979	M1K	probably null	Het
Myh9	T	C	15: 77,761,951	D1944G	probably benign	Het
Nadk2	T	C	15: 9,092,721	W206R	possibly damaging	Het
Olfr830	T	A	9: 18,876,167	M280K	probably damaging	Het
Pcdhb11	T	A	18: 37,421,968	F117Y	probably benign	Het
Pdzd8	C	T	19: 59,305,230	E396K	probably damaging	Het
Piezo1	T	A	8: 122,495,454	Y541F	probably damaging	Het
Polr3h	T	C	15: 81,922,466	I51V	probably benign	Het
Prune2	T	C	19: 17,020,655		probably null	Het
Pyroxd1	C	G	6: 142,354,741	S199*	probably null	Het
Rars2	T	G	4: 34,656,229	V461G	probably damaging	Het
Rasgrp3	T	C	17: 75,498,448	C145R	possibly damaging	Het
Ryr1	T	C	7: 29,086,038	T1743A	possibly damaging	Het
Sac3d1	G	A	19: 6,116,404	A325V	possibly damaging	Het
Shank1	A	T	7: 44,313,141	D93V	unknown	Het
Smg1	T	C	7: 118,154,264		probably benign	Het
Tbl1xr1	A	T	3: 22,188,420	N38I	probably damaging	Het
Ufc1	A	G	1: 171,289,894	I82T	probably benign	Het
Uggt2	A	T	14: 119,034,935	M434K	probably benign	Het
Unc80	G	A	1: 66,671,714		probably null	Het
Zan	T	A	5: 137,464,188	T910S	unknown	Het
Zfp64	A	G	2: 168,934,931	C256R	probably benign	Het

Other mutations in Cpxm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01862:Cpxm2	APN	7	132059811	missense	probably benign	0.01
IGL02039:Cpxm2	APN	7	132047753	missense	probably damaging	1.00
IGL03011:Cpxm2	APN	7	132049078	missense	possibly damaging	0.46
R0033:Cpxm2	UTSW	7	132062157	missense	possibly damaging	0.55
R0100:Cpxm2	UTSW	7	132054871	missense	possibly damaging	0.90
R0100:Cpxm2	UTSW	7	132054871	missense	possibly damaging	0.90
R0453:Cpxm2	UTSW	7	132128405	missense	probably damaging	1.00
R0555:Cpxm2	UTSW	7	132044043	nonsense	probably null
R0655:Cpxm2	UTSW	7	132054820	missense	possibly damaging	0.87
R0834:Cpxm2	UTSW	7	132154613	intron	probably benign
R1145:Cpxm2	UTSW	7	132057648	missense	probably damaging	0.99
R1145:Cpxm2	UTSW	7	132057648	missense	probably damaging	0.99
R1249:Cpxm2	UTSW	7	132128350	critical splice donor site	probably null
R1563:Cpxm2	UTSW	7	132143682	missense	probably benign	0.00
R1565:Cpxm2	UTSW	7	132062145	missense	probably damaging	1.00
R1709:Cpxm2	UTSW	7	132059834	missense	probably damaging	1.00
R1863:Cpxm2	UTSW	7	132143663	splice site	probably null
R1874:Cpxm2	UTSW	7	132059834	missense	probably damaging	1.00
R1958:Cpxm2	UTSW	7	132062147	missense	probably damaging	1.00
R2273:Cpxm2	UTSW	7	132059852	intron	probably benign
R3806:Cpxm2	UTSW	7	132080091	missense	probably benign	0.12
R3861:Cpxm2	UTSW	7	132054919	missense	probably benign	0.00
R4570:Cpxm2	UTSW	7	132143706	missense	probably benign	0.11
R4684:Cpxm2	UTSW	7	132049038	missense	possibly damaging	0.92
R4717:Cpxm2	UTSW	7	132054845	missense	possibly damaging	0.61
R4863:Cpxm2	UTSW	7	132059747	missense	probably benign	0.13
R5079:Cpxm2	UTSW	7	132154285	critical splice donor site	probably null
R5341:Cpxm2	UTSW	7	132154613	intron	probably benign
R5626:Cpxm2	UTSW	7	132059852	intron	probably benign
R5666:Cpxm2	UTSW	7	132054896	missense	probably benign	0.44
R5815:Cpxm2	UTSW	7	132044110	missense	probably damaging	1.00
R6114:Cpxm2	UTSW	7	132154306	missense	probably benign
R6133:Cpxm2	UTSW	7	132128453	missense	probably damaging	1.00
R6224:Cpxm2	UTSW	7	132143731	missense	probably benign
R6468:Cpxm2	UTSW	7	132070860	missense	probably damaging	1.00
R6657:Cpxm2	UTSW	7	132049077	missense	probably damaging	1.00
R7058:Cpxm2	UTSW	7	132143679	missense	probably benign	0.32
R7100:Cpxm2	UTSW	7	132054815	missense	probably benign	0.06
R7198:Cpxm2	UTSW	7	132080084	missense	probably damaging	1.00
R7712:Cpxm2	UTSW	7	132154378	missense	possibly damaging	0.69
R7855:Cpxm2	UTSW	7	132057695	missense	possibly damaging	0.56
R7867:Cpxm2	UTSW	7	132049071	missense	probably damaging	1.00
R8513:Cpxm2	UTSW	7	132143702	missense	probably benign	0.01
RF014:Cpxm2	UTSW	7	132070863	missense	possibly damaging	0.85
Z1177:Cpxm2	UTSW	7	132055001	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGGGACTAAAGACTTCAATGCC -3'
(R):5'- CATGCTTCCTGGTGACTTGG -3'

Sequencing Primer
(F):5'- TCAGCCATTTCCTAGCAGAG -3'
(R):5'- GGTGACTTGGCTCCCTTGC -3'

Posted On

2015-10-08