Mutagenetix > Incidental Mutation

Incidental Mutation 'R6268:Cpa5'

507149

Institutional Source

Beutler Lab

Gene Symbol

Cpa5

Ensembl Gene

ENSMUSG00000029788

Gene Name

carboxypeptidase A5

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R6268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30611010-30631745 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30615173 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 103 (Y103C)

Ref Sequence

ENSEMBL: ENSMUSP00000126436 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062758] [ENSMUST00000115138] [ENSMUST00000115139] [ENSMUST00000165949]

AlphaFold

Q8R4H4

Predicted Effect

probably damaging
Transcript: ENSMUST00000062758
AA Change: Y103C

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

SMART Domains

Protein: ENSMUSP00000057722
Gene: ENSMUSG00000029788
AA Change: Y103C

Domain	Start	End	E-Value	Type
Pfam:Propep_M14	43	117	5.6e-23	PFAM
Zn_pept	139	419	4.83e-125	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115138
AA Change: Y103C

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

SMART Domains

Protein: ENSMUSP00000110791
Gene: ENSMUSG00000029788
AA Change: Y103C

Domain	Start	End	E-Value	Type
Pfam:Propep_M14	43	118	9.9e-26	PFAM
Zn_pept	139	395	4.62e-81	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115139
AA Change: Y103C

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

SMART Domains

Protein: ENSMUSP00000110792
Gene: ENSMUSG00000029788
AA Change: Y103C

Domain	Start	End	E-Value	Type
Pfam:Propep_M14	43	118	4.6e-25	PFAM
Zn_pept	139	419	4.83e-125	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000165949
AA Change: Y103C

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

SMART Domains

Protein: ENSMUSP00000126436
Gene: ENSMUSG00000029788
AA Change: Y103C

Domain	Start	End	E-Value	Type
Pfam:Propep_M14	43	118	6.4e-26	PFAM
Zn_pept	139	309	3.6e-19	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. The encoded preproprotein undergoes proteolytic processing that removes the N-terminal activation peptide to generate a functional enzyme. This gene is expressed in mouse testes where the encoded protein is localized to the germ cells. This gene is located in a cluster of carboxypeptidase genes on chromosome 6. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,540,408	I78T	probably benign	Het
Afg3l1	A	T	8: 123,492,926	I398F	probably damaging	Het
Ahctf1	T	C	1: 179,763,483	H1244R	probably benign	Het
Ank1	A	T	8: 23,109,671	K797N	probably damaging	Het
Anxa6	G	T	11: 54,987,077		probably null	Het
Ap1b1	T	A	11: 5,019,493	V310E	probably damaging	Het
C2cd2l	T	C	9: 44,317,666	I123V	probably damaging	Het
Cars2	TCCCC	TCCC	8: 11,529,599		probably null	Het
Cfap54	T	A	10: 93,038,909	I542F	probably damaging	Het
Cfap57	G	T	4: 118,569,451	Y1100*	probably null	Het
Coq9	A	G	8: 94,850,234	E158G	probably benign	Het
Cox15	A	T	19: 43,739,926	W303R	possibly damaging	Het
Crygn	A	T	5: 24,756,191	V39E	probably damaging	Het
Csf1	G	T	3: 107,747,157	S132R	possibly damaging	Het
Dapk1	G	A	13: 60,761,766	V1398M	possibly damaging	Het
Degs2	C	A	12: 108,692,580	V47L	probably damaging	Het
Dock5	C	A	14: 67,790,275	E1057*	probably null	Het
Doxl2	T	A	6: 48,977,682	Y585N	probably benign	Het
Dsg1b	C	A	18: 20,388,163	Q26K	probably benign	Het
Fam181a	T	C	12: 103,316,544	V236A	possibly damaging	Het
Fam78b	C	A	1: 167,078,553	P94T	probably damaging	Het
Fbxw25	T	G	9: 109,654,650	T165P	probably damaging	Het
Flg	C	A	3: 93,288,175		probably benign	Het
Frrs1	G	T	3: 116,903,099	V573F	probably damaging	Het
Gm7298	A	G	6: 121,779,073	T964A	possibly damaging	Het
Hoxd9	G	T	2: 74,698,089	V12L	probably damaging	Het
Ikbkap	T	C	4: 56,762,305	Y1098C	probably damaging	Het
Kcnt1	A	G	2: 25,903,597		probably null	Het
Klhl3	G	T	13: 58,013,842	R480S	probably damaging	Het
Klhl36	A	G	8: 119,870,667	D369G	probably damaging	Het
Lama3	T	A	18: 12,524,737	N303K	probably damaging	Het
Lhcgr	T	C	17: 88,742,704	T465A	probably damaging	Het
Llgl1	T	C	11: 60,712,163	V888A	probably benign	Het
Lrp1b	T	A	2: 40,821,717	T3164S	probably benign	Het
Mmp3	T	G	9: 7,447,622	D202E	possibly damaging	Het
Mocs1	C	A	17: 49,435,155	T104K	probably damaging	Het
Mrpl42	A	T	10: 95,496,707		probably null	Het
Mtch2	T	C	2: 90,863,648	C279R	probably benign	Het
Muc4	A	T	16: 32,768,767	D2836V	probably damaging	Het
Myh7	T	C	14: 54,989,284	E370G	probably benign	Het
Naa11	A	G	5: 97,392,210	Y30H	probably damaging	Het
Ntng1	T	C	3: 109,935,035	T141A	probably damaging	Het
Olfr1499	A	T	19: 13,815,307	Y94*	probably null	Het
Olfr196	A	C	16: 59,167,293		probably null	Het
Olfr251	T	C	9: 38,378,088	I69T	probably benign	Het
Pcdha12	G	A	18: 37,022,424	C732Y	possibly damaging	Het
Plekhm2	G	A	4: 141,632,341	Q392*	probably null	Het
Prr22	G	A	17: 56,771,587	V247M	probably damaging	Het
Rapgef6	T	A	11: 54,649,247	L716Q	probably damaging	Het
Rasgrp4	G	A	7: 29,143,068	V246I	probably damaging	Het
Rhbdd2	C	T	5: 135,643,260	T323I	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,579,908		probably benign	Homo
Scgb2b20	A	T	7: 33,364,548	I99K	possibly damaging	Het
Scyl3	C	T	1: 163,946,217	R324*	probably null	Het
Slc23a1	T	C	18: 35,619,571	Y551C	probably damaging	Het
Slc5a5	A	T	8: 70,888,620	S358R	probably damaging	Het
Sorcs3	T	A	19: 48,790,166	N1007K	probably damaging	Het
Stxbp4	T	A	11: 90,540,201	K428*	probably null	Het
Tmem63c	T	A	12: 87,081,953	I584N	probably damaging	Het
Traf3ip3	C	T	1: 193,198,036		probably benign	Het
Trgv2	G	A	13: 19,336,831	T31I	probably benign	Het
Ttll3	C	T	6: 113,392,563	R23C	probably benign	Het
Ugt2a3	A	C	5: 87,329,613	L309R	probably damaging	Het
Urb1	A	G	16: 90,753,919	M2015T	probably benign	Het
Vmn2r14	A	C	5: 109,221,417	S97A	possibly damaging	Het
Vps13c	C	A	9: 67,951,449	T2727K	probably benign	Het
Xrn1	T	A	9: 95,964,014	I40K	probably damaging	Het
Zc3h11a	A	G	1: 133,624,557	V604A	probably benign	Het
Zfp410	G	A	12: 84,331,838	R259H	probably benign	Het
Zfp748	A	G	13: 67,542,586	V185A	possibly damaging	Het

Other mutations in Cpa5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01757:Cpa5	APN	6	30625927	splice site	probably benign
IGL02577:Cpa5	APN	6	30626808	splice site	probably benign
IGL03148:Cpa5	APN	6	30630437	missense	probably damaging	1.00
IGL03341:Cpa5	APN	6	30626291	missense	possibly damaging	0.57
R0836:Cpa5	UTSW	6	30623211	missense	probably damaging	1.00
R1437:Cpa5	UTSW	6	30624655	missense	probably damaging	1.00
R2146:Cpa5	UTSW	6	30626822	missense	probably damaging	1.00
R2285:Cpa5	UTSW	6	30615064	missense	probably benign	0.09
R2334:Cpa5	UTSW	6	30624606	nonsense	probably null
R4081:Cpa5	UTSW	6	30631229	missense	probably benign	0.02
R4454:Cpa5	UTSW	6	30626324	missense	possibly damaging	0.84
R4483:Cpa5	UTSW	6	30624626	missense	probably damaging	1.00
R4758:Cpa5	UTSW	6	30615160	missense	possibly damaging	0.67
R4771:Cpa5	UTSW	6	30612685	nonsense	probably null
R4953:Cpa5	UTSW	6	30631364	missense	possibly damaging	0.84
R5053:Cpa5	UTSW	6	30623272	missense	probably damaging	1.00
R5392:Cpa5	UTSW	6	30630830	nonsense	probably null
R5593:Cpa5	UTSW	6	30630849	missense	probably benign	0.10
R5745:Cpa5	UTSW	6	30630437	missense	probably damaging	1.00
R5900:Cpa5	UTSW	6	30615116	missense	probably damaging	1.00
R6264:Cpa5	UTSW	6	30613985	missense	probably damaging	1.00
R6376:Cpa5	UTSW	6	30614045	missense	probably benign
R6634:Cpa5	UTSW	6	30626364	missense	probably damaging	1.00
R6814:Cpa5	UTSW	6	30614054	missense	probably benign	0.03
R6872:Cpa5	UTSW	6	30614054	missense	probably benign	0.03
R6989:Cpa5	UTSW	6	30625892	missense	probably benign	0.06
R7205:Cpa5	UTSW	6	30630830	missense	probably benign
R7499:Cpa5	UTSW	6	30630857	missense	possibly damaging	0.81
R7864:Cpa5	UTSW	6	30631395	missense	probably damaging	0.97
R8170:Cpa5	UTSW	6	30624595	missense	probably benign	0.35
R9027:Cpa5	UTSW	6	30612605	start codon destroyed	probably null	0.88
R9395:Cpa5	UTSW	6	30631281	missense	probably damaging	1.00
R9607:Cpa5	UTSW	6	30626339	missense	probably damaging	1.00
R9687:Cpa5	UTSW	6	30614042	missense	probably benign
R9794:Cpa5	UTSW	6	30625921	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGAAGCCCTGTCCTCTCGATG -3'
(R):5'- TGTCCATAAACAGGCAGCTGTG -3'

Sequencing Primer
(F):5'- CTCGATGCCTACCGAGTATATAAGG -3'
(R):5'- GTGTACCCACGAGCAAAATGTCTG -3'

Posted On

2018-03-15