Mutagenetix > Incidental Mutation

Incidental Mutation 'R2179:Cpm'

237064

Institutional Source

Beutler Lab

Gene Symbol

Cpm

Ensembl Gene

ENSMUSG00000020183

Gene Name

carboxypeptidase M

Synonyms

1110060I01Rik, 5730456K23Rik

MMRRC Submission

040181-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R2179 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

117465405-117523257 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 117519266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 391 (D391E)

Ref Sequence

ENSEMBL: ENSMUSP00000020399 (fasta)

Gene Model

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

AlphaFold

Q80V42

Predicted Effect

probably benign
Transcript: ENSMUST00000020399
AA Change: D391E

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020399
Gene: ENSMUSG00000020183
AA Change: D391E

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

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,271,018 (GRCm39)	D849G	possibly damaging	Het
Amz2	A	G	11: 109,320,658 (GRCm39)	H155R	probably damaging	Het
Cfhr4	G	T	1: 139,659,279 (GRCm39)	P679Q	probably damaging	Het
Chuk	C	A	19: 44,092,160 (GRCm39)	C46F	possibly damaging	Het
Cp	A	T	3: 20,042,151 (GRCm39)	D973V	probably damaging	Het
Creb3	T	C	4: 43,566,306 (GRCm39)	S271P	probably damaging	Het
Cubn	T	A	2: 13,323,053 (GRCm39)	H2838L	possibly damaging	Het
Dennd2d	A	G	3: 106,399,776 (GRCm39)	H233R	probably benign	Het
Dnaaf2	C	A	12: 69,245,071 (GRCm39)		probably benign	Het
Enpp3	T	A	10: 24,681,793 (GRCm39)	Q304H	probably benign	Het
Fermt3	C	A	19: 6,991,782 (GRCm39)	R143L	probably benign	Het
Fndc8	A	C	11: 82,789,580 (GRCm39)	K246T	probably damaging	Het
Gaa	A	G	11: 119,165,884 (GRCm39)		probably null	Het
Gucy2e	A	T	11: 69,119,404 (GRCm39)		probably null	Het
Igf1r	A	G	7: 67,653,698 (GRCm39)	T79A	probably damaging	Het
Ikbkb	C	T	8: 23,171,769 (GRCm39)		probably null	Het
Il16	A	T	7: 83,337,287 (GRCm39)		probably null	Het
Irs1	T	A	1: 82,267,940 (GRCm39)	H92L	possibly damaging	Het
Itpr2	A	G	6: 146,277,464 (GRCm39)	M315T	probably benign	Het
Lrba	T	G	3: 86,261,588 (GRCm39)	L1514R	probably damaging	Het
Mcpt2	A	G	14: 56,279,573 (GRCm39)		probably benign	Het
Metap1d	A	G	2: 71,283,715 (GRCm39)	I5V	probably benign	Het
Mga	T	A	2: 119,790,923 (GRCm39)	S2479T	probably damaging	Het
Mllt10	T	C	2: 18,215,604 (GRCm39)	V1063A	probably damaging	Het
Mroh2b	G	A	15: 4,950,928 (GRCm39)		probably null	Het
Mtfr1	C	T	3: 19,254,308 (GRCm39)	R15*	probably null	Het
Npm2	A	G	14: 70,885,749 (GRCm39)	V152A	probably benign	Het
Nrxn3	T	A	12: 89,221,448 (GRCm39)	V409D	probably damaging	Het
Ogdhl	A	G	14: 32,057,302 (GRCm39)	N303D	probably damaging	Het
Or10g9	T	C	9: 39,912,220 (GRCm39)	Y101C	probably benign	Het
Or10q1b	T	C	19: 13,682,758 (GRCm39)	V189A	probably damaging	Het
Or4d11	T	C	19: 12,013,452 (GRCm39)	Y218C	probably damaging	Het
Or6s1	A	G	14: 51,308,238 (GRCm39)	V204A	probably benign	Het
Pah	T	C	10: 87,403,197 (GRCm39)	F191L	probably damaging	Het
Paics	A	T	5: 77,109,291 (GRCm39)	I209F	probably damaging	Het
Pcare	T	C	17: 72,059,521 (GRCm39)	D52G	probably damaging	Het
Pld6	A	G	11: 59,678,184 (GRCm39)	L93P	probably damaging	Het
Plod3	T	C	5: 137,019,862 (GRCm39)	F431L	possibly damaging	Het
Ppm1b	T	A	17: 85,301,862 (GRCm39)	D247E	probably damaging	Het
Prx	A	G	7: 27,217,410 (GRCm39)	D637G	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,116 (GRCm39)		probably benign	Het
Ryr2	A	T	13: 11,720,679 (GRCm39)	Y2656*	probably null	Het
Setd2	T	A	9: 110,423,756 (GRCm39)	Y492*	probably null	Het
Shmt1	A	G	11: 60,697,825 (GRCm39)	W9R	possibly damaging	Het
Slc25a17	A	G	15: 81,222,151 (GRCm39)	V107A	probably benign	Het
Sptlc1	A	T	13: 53,505,675 (GRCm39)	Y248N	probably damaging	Het
Stam2	T	C	2: 52,584,936 (GRCm39)	T453A	probably benign	Het
Tango2	G	T	16: 18,128,762 (GRCm39)	N77K	probably damaging	Het
Tas2r121	A	T	6: 132,677,831 (GRCm39)	I47N	probably damaging	Het
Terb1	A	T	8: 105,179,347 (GRCm39)	C614S	probably damaging	Het
Terb1	T	C	8: 105,199,369 (GRCm39)	N525S	probably benign	Het
Ttc6	A	G	12: 57,719,904 (GRCm39)	D825G	possibly damaging	Het
U90926	A	T	5: 92,357,838 (GRCm39)	H104Q	probably benign	Het
Zfand4	G	A	6: 116,291,742 (GRCm39)	A559T	possibly damaging	Het
Zfp462	T	C	4: 55,009,524 (GRCm39)	S497P	possibly damaging	Het

Other mutations in Cpm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Cpm	APN	10	117,511,971 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTTTCAAGCCACGCATGCAC -3'
(R):5'- TAACCGGGAGTAACCAATCCCTG -3'

Sequencing Primer
(F):5'- ATGCACCGCTCAAAGGG -3'
(R):5'- GATTCCCGGAAGTCGAGTTTCAC -3'

Posted On

2014-10-02