Mutagenetix > Incidental Mutations

Incidental Mutation 'R8967:Cpxm2'

682805

Institutional Source

Beutler Lab

Gene Symbol

Cpxm2

Ensembl Gene

ENSMUSG00000030862

Gene Name

carboxypeptidase X 2 (M14 family)

Synonyms

4632435C11Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R8967 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132032687-132154739 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 132059835 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 408 (Y408N)

Ref Sequence

ENSEMBL: ENSMUSP00000033149 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000033149
AA Change: Y408N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033149
Gene: ENSMUSG00000030862
AA Change: Y408N

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: 99.6%
20x: 98.6%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,292,696	S1520P	probably benign	Het
Abhd12	A	G	2: 150,837,431	Y291H	probably damaging	Het
Abr	C	A	11: 76,479,029	S178I	possibly damaging	Het
Akap13	T	A	7: 75,729,134	I422K	possibly damaging	Het
Arfgef2	A	T	2: 166,835,742	T185S	probably damaging	Het
Arfip2	A	T	7: 105,637,134	Y228N	probably damaging	Het
B4gat1	T	C	19: 5,039,650	V225A	probably damaging	Het
Brf1	G	A	12: 112,973,619	P183S	probably damaging	Het
Ceacam1	T	C	7: 25,463,872	N312S	possibly damaging	Het
Cep135	T	C	5: 76,603,318	L337P	probably damaging	Het
Cnppd1	A	T	1: 75,136,621	C334*	probably null	Het
Dennd3	T	C	15: 73,547,577	V739A	possibly damaging	Het
Dlx3	T	C	11: 95,123,751	Y287H	probably damaging	Het
Dnah7a	A	T	1: 53,643,435		probably benign	Het
Dnah9	C	A	11: 66,125,112		probably null	Het
Dnajc1	A	T	2: 18,308,946	Y121*	probably null	Het
Ecel1	A	T	1: 87,151,140	Y526N	probably damaging	Het
Ect2	A	T	3: 27,144,983	V218E	probably damaging	Het
Heca	A	G	10: 17,914,990		probably null	Het
Hsd17b7	A	T	1: 169,969,116	L6*	probably null	Het
Irgc1	T	A	7: 24,433,312	T27S	probably benign	Het
Lama3	A	C	18: 12,532,039	I671L	possibly damaging	Het
Mybl2	T	C	2: 163,072,886	L308P	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nphp1	G	A	2: 127,740,977	P672L	probably damaging	Het
Oas3	G	A	5: 120,758,842	H905Y	probably damaging	Het
Obscn	A	G	11: 59,081,914	V2102A	probably benign	Het
Olfr1208	A	T	2: 88,897,500	Y32*	probably null	Het
Olfr218	A	G	1: 173,203,472	T39A	probably benign	Het
Olfr352	A	T	2: 36,870,054	T163S	probably damaging	Het
Olfr47	T	C	6: 43,236,139	F177S	probably damaging	Het
Olfr5	A	G	7: 6,481,012	L48P	possibly damaging	Het
Pank4	C	G	4: 154,970,958	H262D	probably benign	Het
Phkb	T	A	8: 86,029,434		probably benign	Het
Pxylp1	G	A	9: 96,825,271	T286M	probably damaging	Het
Pygm	A	T	19: 6,384,714	D79V	probably damaging	Het
Rapgef4	A	G	2: 72,226,510	T682A	possibly damaging	Het
Sec24b	C	T	3: 129,991,435	R974Q	probably damaging	Het
Serpinb6e	A	G	13: 33,836,436	F230L	possibly damaging	Het
Skint6	A	T	4: 112,872,504	L850*	probably null	Het
Slc7a11	C	A	3: 50,384,115	V282L	probably benign	Het
Smg1	A	G	7: 118,166,516	S1895P	unknown	Het
Tango2	A	G	16: 18,347,899		probably benign	Het
Tmc7	G	A	7: 118,561,005	P203L	probably benign	Het
Tmem64	T	A	4: 15,266,575	F208L	probably damaging	Het
Tpcn1	A	T	5: 120,555,958	V191E	probably damaging	Het
Wdr63	T	A	3: 146,055,640	N654Y	possibly damaging	Het
Zbtb41	A	G	1: 139,442,849	I675V	probably benign	Het
Zfp180	T	C	7: 24,105,301	S382P	probably damaging	Het
Zfp932	A	G	5: 110,009,017	S194G	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
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
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
R8694:Cpxm2	UTSW	7	132080054	missense	probably benign	0.03
R8874:Cpxm2	UTSW	7	132106281	critical splice donor site	probably null
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'- GTACTCTCATACATGCACATGC -3'
(R):5'- GGTCGTTTGTGTCCTTCCAAAC -3'

Sequencing Primer
(F):5'- TATCAAAAACAAGAACTAGGCTAAGC -3'
(R):5'- GTGTCCTTCCAAACCTCACCAG -3'

Posted On

2021-10-11