Mutagenetix > Incidental Mutation

Incidental Mutation 'R4758:Cpa5'

358312

Institutional Source

Beutler Lab

Gene Symbol

Cpa5

Ensembl Gene

ENSMUSG00000029788

Gene Name

carboxypeptidase A5

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R4758 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30611010-30631745 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 30615160 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 99 (H99N)

Ref Sequence

ENSEMBL: ENSMUSP00000110792 (fasta)

Gene Model

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

AlphaFold

Q8R4H4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062758
AA Change: H99N

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000057722
Gene: ENSMUSG00000029788
AA Change: H99N

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 benign
Transcript: ENSMUST00000115138
AA Change: H99N

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000110791
Gene: ENSMUSG00000029788
AA Change: H99N

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

possibly damaging
Transcript: ENSMUST00000115139
AA Change: H99N

PolyPhen 2 Score 0.668 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110792
Gene: ENSMUSG00000029788
AA Change: H99N

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 benign
Transcript: ENSMUST00000165949
AA Change: H99N

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000126436
Gene: ENSMUSG00000029788
AA Change: H99N

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,073,605	Y119N	probably damaging	Het
Actn2	T	A	13: 12,288,586	K443*	probably null	Het
Adgrb2	A	G	4: 130,009,350	N581S	probably damaging	Het
Alb	A	T	5: 90,468,593	H319L	probably benign	Het
Aox2	A	G	1: 58,332,582	I802V	probably benign	Het
Arhgap45	G	A	10: 80,030,293	G995E	probably benign	Het
BC005561	A	C	5: 104,520,399	E929A	possibly damaging	Het
Capn12	A	C	7: 28,892,723	T689P	possibly damaging	Het
Cars	T	C	7: 143,571,567	S312G	probably benign	Het
Cast	T	A	13: 74,739,880	D216V	possibly damaging	Het
Ccdc13	C	T	9: 121,833,734	E72K	possibly damaging	Het
Cd300lg	G	T	11: 102,053,591		probably null	Het
Cep41	A	G	6: 30,671,369		probably benign	Het
Chrna3	A	G	9: 55,022,276	Y93H	probably damaging	Het
Cic	A	G	7: 25,292,211	R1309G	possibly damaging	Het
Clcnkb	A	G	4: 141,407,849	V526A	probably benign	Het
Clec4a1	G	T	6: 122,933,866	V227F	probably damaging	Het
Crem	C	A	18: 3,327,527	C4F	probably damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Decr2	C	A	17: 26,088,940	E46D	probably damaging	Het
Dlg1	G	A	16: 31,791,752	V284I	possibly damaging	Het
Dnah3	T	C	7: 120,079,406	E360G	probably benign	Het
Dnajc1	A	T	2: 18,308,946	Y121*	probably null	Het
Dnajc13	A	G	9: 104,172,574	F1783L	probably damaging	Het
Eps8l2	T	A	7: 141,360,373	D505E	probably damaging	Het
Eral1	G	A	11: 78,075,599	T251I	probably benign	Het
Eya3	T	C	4: 132,694,885		probably null	Het
Fam120a	G	A	13: 48,880,857	T1093I	probably benign	Het
Fbn2	C	T	18: 58,026,386	A2424T	probably benign	Het
Git2	G	A	5: 114,730,351	T256M	probably damaging	Het
Gm884	A	G	11: 103,614,464	V2226A	possibly damaging	Het
Gm9805	A	T	17: 22,689,871	Y34F	probably benign	Het
Itgb7	T	G	15: 102,216,207	T792P	probably benign	Het
Jakmip1	T	A	5: 37,128,622	I665N	probably damaging	Het
Kcnt2	T	C	1: 140,518,897	Y677H	probably damaging	Het
Klhdc4	G	A	8: 121,798,044	P382S	probably benign	Het
Knl1	TCC	TC	2: 119,071,732		probably null	Het
Lamb3	T	A	1: 193,339,961	M1039K	possibly damaging	Het
Lipm	A	T	19: 34,101,170	M1L	possibly damaging	Het
Magi3	T	A	3: 104,015,321	D1360V	probably benign	Het
Mier2	C	A	10: 79,550,348	C23F	probably damaging	Het
Myo1h	C	T	5: 114,349,582	R616C	probably damaging	Het
Nars2	A	G	7: 96,973,528	D187G	probably damaging	Het
Nbea	T	C	3: 56,005,403	M988V	probably benign	Het
Nlrc5	C	A	8: 94,512,328	Q1465K	possibly damaging	Het
Nlrp4e	T	C	7: 23,320,618	F177L	probably benign	Het
Oas1a	A	G	5: 120,907,338	F47L	probably damaging	Het
Oas1f	A	G	5: 120,847,480	E30G	probably damaging	Het
Obscn	A	T	11: 59,003,363	M6689K	unknown	Het
Obscn	A	T	11: 59,135,917	D153E	probably damaging	Het
Olfr605	A	C	7: 103,442,869	C85G	probably damaging	Het
Osmr	A	T	15: 6,852,555	I36K	probably benign	Het
Pcf11	A	T	7: 92,661,175	F535Y	probably damaging	Het
Pde2a	C	T	7: 101,511,499	R886C	probably damaging	Het
Pik3ca	T	A	3: 32,437,978	C242S	probably benign	Het
Pikfyve	T	A	1: 65,272,515	D1925E	possibly damaging	Het
Plekhm2	A	T	4: 141,642,005	Y123N	possibly damaging	Het
Pomt2	A	T	12: 87,122,878	V406D	probably damaging	Het
Ppfia2	G	C	10: 106,762,117	L180F	probably damaging	Het
Prdm10	A	T	9: 31,362,412	T985S	probably benign	Het
Proc	T	A	18: 32,123,810	Y268F	probably damaging	Het
Prrc1	C	T	18: 57,384,248	T365M	probably damaging	Het
Rasa1	A	T	13: 85,234,448	D446E	probably benign	Het
Ribc2	T	A	15: 85,141,666	L281Q	probably damaging	Het
Runx1t1	A	G	4: 13,865,907	D385G	probably damaging	Het
Sdk2	A	G	11: 113,827,054	S1495P	possibly damaging	Het
Slc15a3	G	T	19: 10,854,362		probably null	Het
Slc43a3	A	G	2: 84,944,525	N149S	probably damaging	Het
Spata5	T	A	3: 37,433,236	S416T	probably benign	Het
Specc1l	A	G	10: 75,246,348	Q543R	probably damaging	Het
Spef1	T	C	2: 131,172,741		probably null	Het
Spns1	A	T	7: 126,370,794	F478Y	probably damaging	Het
Srebf2	T	C	15: 82,196,169	V821A	probably benign	Het
Stac3	A	G	10: 127,503,345	M108V	possibly damaging	Het
Stradb	A	G	1: 58,988,571	T87A	probably benign	Het
Stxbp5l	A	T	16: 37,134,230	M906K	probably benign	Het
Tex14	T	C	11: 87,514,485	V741A	probably benign	Het
Tpo	C	A	12: 30,075,871	G830C	probably damaging	Het
Unc79	T	A	12: 103,161,821	C2308*	probably null	Het
Vmn1r205	T	C	13: 22,592,846	T29A	possibly damaging	Het
Vmn1r69	G	A	7: 10,580,546	T7I	probably benign	Het
Vmn2r27	T	G	6: 124,231,637	T50P	possibly damaging	Het
Wdr83	A	G	8: 85,075,238	Y302H	probably benign	Het
Xirp2	A	T	2: 67,516,535	E3040V	probably damaging	Het
Zfp629	C	A	7: 127,610,586	G684W	probably 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
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
R6268:Cpa5	UTSW	6	30615173	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'- ATAAAAGAAGCCCTGTCCTCTC -3'
(R):5'- TAAACAGGCAGCTGTGTACC -3'

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

Posted On

2015-11-11