Mutagenetix > Incidental Mutation

Incidental Mutation 'R7855:Cpxm2'

607189

Institutional Source

Beutler Lab

Gene Symbol

Cpxm2

Ensembl Gene

ENSMUSG00000030862

Gene Name

carboxypeptidase X 2 (M14 family)

Synonyms

4632435C11Rik

MMRRC Submission

045908-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R7855 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132032687-132154739 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 132057695 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 481 (P481Q)

Ref Sequence

ENSEMBL: ENSMUSP00000033149 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033149
AA Change: P481Q

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000033149
Gene: ENSMUSG00000030862
AA Change: P481Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	T	A	19: 7,422,256	I456N	probably damaging	Het
Abca6	A	T	11: 110,191,628	V1173D	probably benign	Het
Ace	A	T	11: 105,972,379	M327L	probably benign	Het
Bcl2l2	C	T	14: 54,884,379		probably benign	Het
Bicdl2	C	T	17: 23,666,017	Q231*	probably null	Het
Brms1l	A	T	12: 55,866,053	D277V	possibly damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Col6a3	G	T	1: 90,810,621	P1059T	possibly damaging	Het
Coro1c	A	T	5: 113,848,597	M262K	probably benign	Het
Dnah12	G	T	14: 26,829,329	V2543F	probably benign	Het
Dock2	A	C	11: 34,273,698	D1145E	probably damaging	Het
Elf3	G	A	1: 135,254,352	R364W	probably damaging	Het
Eln	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	AGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCGGGGACACCAGCACCAGCCCCAAATCCAGGGACACCAGC	5: 134,711,081		probably benign	Het
Epha3	A	G	16: 63,773,560	I55T	probably damaging	Het
Fam69c	G	A	18: 84,730,046		probably benign	Het
Gfer	C	A	17: 24,694,285	D198Y	probably damaging	Het
Gm10436	A	T	12: 88,176,083	I450N	probably benign	Het
Gm11568	A	T	11: 99,858,184	T72S	unknown	Het
Gm21994	C	T	2: 150,255,146	R121Q	probably benign	Het
Gm5415	A	C	1: 32,546,033	I265M	probably damaging	Het
Igkv3-1	C	T	6: 70,704,069	A84V	probably benign	Het
Il1rl2	A	C	1: 40,343,119	Y197S	probably damaging	Het
Il2ra	T	C	2: 11,680,336	I161T	possibly damaging	Het
Itgb8	C	T	12: 119,166,772	R667H	probably benign	Het
Kcnh7	G	A	2: 62,837,194	Q334*	probably null	Het
Lctl	A	C	9: 64,133,216	R480S	possibly damaging	Het
Lrba	T	G	3: 86,315,430	I617S	possibly damaging	Het
Marf1	G	T	16: 14,114,201	H1651N	probably benign	Het
Mitf	T	A	6: 97,993,196	Y142N	probably damaging	Het
Olfr569	A	G	7: 102,887,628	V175A	probably benign	Het
Olfr620	T	A	7: 103,611,772	I194F	possibly damaging	Het
Pecam1	A	G	11: 106,671,750	V708A	probably benign	Het
Pinlyp	C	T	7: 24,542,440		probably null	Het
Polh	G	A	17: 46,175,248	R382W	probably damaging	Het
Prdm10	A	G	9: 31,327,474	I221V	probably benign	Het
Pskh1	G	T	8: 105,913,090	R134L	probably benign	Het
Ptpre	A	G	7: 135,651,995	N6D	probably benign	Het
Rasgrp4	C	T	7: 29,150,610	P58L	unknown	Het
Rhbdf2	G	T	11: 116,602,240	C393*	probably null	Het
Rlf	T	C	4: 121,182,691	I174M	possibly damaging	Het
Ryr2	T	A	13: 11,706,623	R2641*	probably null	Het
Simc1	A	G	13: 54,524,832	H331R	probably benign	Het
Skp2	A	G	15: 9,122,241	S256P	probably benign	Het
Smarcd2	T	C	11: 106,267,566	R10G	probably benign	Het
Spef2	A	G	15: 9,687,895	L480P	possibly damaging	Het
Tenm4	A	G	7: 96,873,874	H1541R	probably damaging	Het
Top1	T	A	2: 160,714,088	L489Q	probably damaging	Het
Ttll13	C	T	7: 80,254,097	H258Y	probably damaging	Het
Unc80	A	G	1: 66,483,349	R237G	possibly damaging	Het
Vmn1r55	A	G	7: 5,146,624	F267L	probably benign	Het
Vmn2r96	T	A	17: 18,597,868	M761K	possibly damaging	Het
Vps33a	G	A	5: 123,570,979	H58Y	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240		probably benign	Het
Zfp467	T	C	6: 48,439,181	Q179R	probably damaging	Het
Zfp729a	A	T	13: 67,619,948	S721T	possibly damaging	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
R4642:Cpxm2	UTSW	7	132070881	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
R7867:Cpxm2	UTSW	7	132049071	missense	probably damaging	1.00
R8513:Cpxm2	UTSW	7	132143702	missense	probably benign	0.01
R8694:Cpxm2	UTSW	7	132080054	missense	probably benign	0.03
R8874:Cpxm2	UTSW	7	132106281	critical splice donor site	probably null
R8967:Cpxm2	UTSW	7	132059835	missense	probably damaging	1.00
R9680:Cpxm2	UTSW	7	132059922	missense	probably damaging	1.00
R9759:Cpxm2	UTSW	7	132154513	missense	probably benign	0.03
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'- AACATTCATGCATTCCGGGG -3'
(R):5'- TGGGTTCTCCTACAATCCGAG -3'

Sequencing Primer
(F):5'- GAAGGTAGTAACGCATACTGTTCTC -3'
(R):5'- GAGAGCTCTTCGCATTCTGAATC -3'

Posted On

2019-12-20