Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00924:Cpm'

28333

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpm

Ensembl Gene

ENSMUSG00000020183

Gene Name

carboxypeptidase M

Synonyms

1110060I01Rik, 5730456K23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

IGL00924

Quality Score

Status

Chromosome

Chromosomal Location

117465405-117523257 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 117511971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 305 (I305S)

Ref Sequence

ENSEMBL: ENSMUSP00000020399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020399]

AlphaFold

Q80V42

Predicted Effect

probably damaging
Transcript: ENSMUST00000020399
AA Change: I305S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020399
Gene: ENSMUSG00000020183
AA Change: I305S

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Zn_pept	22	406	2.03e-45	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141991

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-bound arginine/lysine carboxypeptidase. Its expression is associated with monocyte to macrophage differentiation. This encoded protein contains hydrophobic regions at the amino and carboxy termini and has 6 potential asparagine-linked glycosylation sites. The active site residues of carboxypeptidases A and B are conserved in this protein. Three alternatively spliced transcript variants encoding the same protein have been described for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	G	1: 59,255,021 (GRCm39)	V112A	probably benign	Het
Atp1a4	T	A	1: 172,074,339 (GRCm39)	I305F	probably damaging	Het
AW209491	A	G	13: 14,811,660 (GRCm39)	N171S	probably damaging	Het
Bank1	G	T	3: 135,953,395 (GRCm39)	A120E	probably damaging	Het
Bdp1	T	A	13: 100,234,087 (GRCm39)	E206D	possibly damaging	Het
Brd1	T	C	15: 88,613,612 (GRCm39)	K428E	possibly damaging	Het
Ccdc42	A	G	11: 68,485,447 (GRCm39)	I191V	probably benign	Het
Coa7	G	T	4: 108,195,505 (GRCm39)	G145C	possibly damaging	Het
Cracd	A	G	5: 77,006,833 (GRCm39)	T1065A	unknown	Het
Dlc1	A	T	8: 37,405,368 (GRCm39)	S140R	probably benign	Het
Dnajc14	A	G	10: 128,653,188 (GRCm39)	T674A	probably benign	Het
Dnajc7	A	G	11: 100,475,111 (GRCm39)	I437T	possibly damaging	Het
Entpd5	A	T	12: 84,433,828 (GRCm39)	V147E	probably damaging	Het
Gpr139	A	G	7: 118,783,510 (GRCm39)	C30R	probably benign	Het
Habp4	A	G	13: 64,321,885 (GRCm39)	D174G	probably damaging	Het
Has3	T	C	8: 107,605,231 (GRCm39)	F479S	probably benign	Het
Helb	T	A	10: 119,946,889 (GRCm39)	K141N	probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Kdm1b	G	A	13: 47,221,956 (GRCm39)	R465H	probably benign	Het
Lrrc57	A	T	2: 120,436,532 (GRCm39)	M86K	possibly damaging	Het
Map7d1	A	G	4: 126,132,398 (GRCm39)	V258A	probably damaging	Het
Mtcl2	T	G	2: 156,882,625 (GRCm39)	M476L	probably damaging	Het
Mybbp1a	T	A	11: 72,334,393 (GRCm39)	F216Y	probably damaging	Het
Ncan	T	A	8: 70,561,039 (GRCm39)	M643L	possibly damaging	Het
Ngdn	T	C	14: 55,260,626 (GRCm39)	I278T	probably damaging	Het
Or4c104	T	C	2: 88,586,500 (GRCm39)	D173G	possibly damaging	Het
Or9a4	C	T	6: 40,548,388 (GRCm39)	R23C	probably benign	Het
P4hb	G	T	11: 120,454,644 (GRCm39)	Q245K	probably benign	Het
Pcx	G	A	19: 4,670,965 (GRCm39)	V1089I	probably benign	Het
Phc3	A	T	3: 30,990,624 (GRCm39)	M498K	probably damaging	Het
Pkd1	T	A	17: 24,790,601 (GRCm39)	L1025*	probably null	Het
Sdhaf2	G	A	19: 10,494,380 (GRCm39)	P110S	probably damaging	Het
Slc22a20	T	C	19: 6,020,544 (GRCm39)	K538E	probably benign	Het
Spag11b	T	A	8: 19,192,656 (GRCm39)	V78D	probably damaging	Het
Tgm3	T	C	2: 129,880,294 (GRCm39)	C367R	probably damaging	Het
Unc5a	G	A	13: 55,152,327 (GRCm39)	E741K	probably damaging	Het
Vmn2r58	A	T	7: 41,486,891 (GRCm39)	L668H	probably damaging	Het
Wdr62	G	A	7: 29,964,643 (GRCm39)	T367I	probably damaging	Het
Wdr62	G	A	7: 29,942,231 (GRCm39)	P603S	probably damaging	Het
Xab2	G	A	8: 3,661,723 (GRCm39)	R577W	probably damaging	Het

Other mutations in Cpm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01400:Cpm	APN	10	117,495,680 (GRCm39)	missense	probably benign	0.25
IGL02655:Cpm	APN	10	117,519,186 (GRCm39)	missense	probably benign	0.01
IGL02724:Cpm	APN	10	117,465,756 (GRCm39)	missense	probably damaging	1.00
IGL03144:Cpm	APN	10	117,519,319 (GRCm39)	missense	probably benign	0.03
R0898:Cpm	UTSW	10	117,512,011 (GRCm39)	splice site	probably benign
R2179:Cpm	UTSW	10	117,519,266 (GRCm39)	missense	probably benign	0.24
R2213:Cpm	UTSW	10	117,495,744 (GRCm39)	missense	probably damaging	1.00
R4622:Cpm	UTSW	10	117,506,202 (GRCm39)	missense	possibly damaging	0.91
R4623:Cpm	UTSW	10	117,506,202 (GRCm39)	missense	possibly damaging	0.91
R4658:Cpm	UTSW	10	117,503,956 (GRCm39)	missense	probably benign	0.43
R4714:Cpm	UTSW	10	117,511,890 (GRCm39)	missense	probably damaging	0.97
R4991:Cpm	UTSW	10	117,504,008 (GRCm39)	missense	probably damaging	1.00
R5430:Cpm	UTSW	10	117,511,986 (GRCm39)	missense	possibly damaging	0.92
R5765:Cpm	UTSW	10	117,507,638 (GRCm39)	missense	probably benign	0.09
R6757:Cpm	UTSW	10	117,507,543 (GRCm39)	missense	probably damaging	1.00
R6803:Cpm	UTSW	10	117,512,002 (GRCm39)	splice site	probably null
R7509:Cpm	UTSW	10	117,495,745 (GRCm39)	missense	probably damaging	1.00
R7761:Cpm	UTSW	10	117,519,340 (GRCm39)	missense	possibly damaging	0.64
R8171:Cpm	UTSW	10	117,519,220 (GRCm39)	missense	probably damaging	0.96
R8472:Cpm	UTSW	10	117,515,883 (GRCm39)	missense	probably damaging	1.00
R8951:Cpm	UTSW	10	117,511,938 (GRCm39)	missense	probably damaging	0.96
R9028:Cpm	UTSW	10	117,519,414 (GRCm39)	missense	probably benign	0.00
R9601:Cpm	UTSW	10	117,511,999 (GRCm39)	critical splice donor site	probably null

Posted On

2013-04-17