Mutagenetix > Incidental Mutation

Incidental Mutation 'R6872:Cpa5'

536203

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: 0.117) question?

Stock #

R6872 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30611010-30631745 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30614054 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 65 (Q65L)

Ref Sequence

ENSEMBL: ENSMUSP00000110792 (fasta)

Gene Model

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

AlphaFold

Q8R4H4

Predicted Effect

probably benign
Transcript: ENSMUST00000062758
AA Change: Q65L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000057722
Gene: ENSMUSG00000029788
AA Change: Q65L

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: Q65L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000110791
Gene: ENSMUSG00000029788
AA Change: Q65L

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 benign
Transcript: ENSMUST00000115139
AA Change: Q65L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000110792
Gene: ENSMUSG00000029788
AA Change: Q65L

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: Q65L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000126436
Gene: ENSMUSG00000029788
AA Change: Q65L

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,623,180	V336I	probably benign	Het
Abcg3	T	C	5: 104,935,994	T637A	probably benign	Het
Ap3d1	G	A	10: 80,714,322	R692*	probably null	Het
Aqp2	C	T	15: 99,584,004	H260Y	probably benign	Het
Btbd2	C	A	10: 80,644,332	R383L	probably damaging	Het
Ccdc24	T	C	4: 117,869,926	T196A	probably benign	Het
Cdc20b	G	A	13: 113,083,975	G463S	probably damaging	Het
Ceacam5	A	T	7: 17,752,287	R570*	probably null	Het
Col12a1	A	T	9: 79,677,234	N1357K	probably damaging	Het
Ddo	A	C	10: 40,637,418	M119L	possibly damaging	Het
Dnah8	G	T	17: 30,762,679	L3058F	probably damaging	Het
Dnajb8	A	G	6: 88,223,040	N186S	probably damaging	Het
Dock4	T	C	12: 40,812,326		probably null	Het
Ear6	A	G	14: 51,854,428	Y144C	probably damaging	Het
Eng	T	A	2: 32,673,275	I281N	probably damaging	Het
Fgf2	A	G	3: 37,404,711	K85E	probably damaging	Het
Fubp1	A	T	3: 152,226,146	Q37L	probably benign	Het
Gabra2	G	T	5: 71,094,539	P22T	probably damaging	Het
Gm10401	T	C	5: 115,098,186		probably benign	Het
Gm436	A	T	4: 144,670,646	L172*	probably null	Het
Gm6657	T	A	12: 78,197,367	D31E	probably damaging	Het
Gsdmc	T	C	15: 63,778,707	D275G	possibly damaging	Het
Iglv3	A	G	16: 19,241,284	I98T	probably damaging	Het
Lmod1	G	T	1: 135,365,141	R578L	probably damaging	Het
Mindy2	A	G	9: 70,616,762		probably null	Het
Neb	G	T	2: 52,293,645	Q1004K	probably damaging	Het
Nkx2-9	T	G	12: 56,611,889	N180T	probably benign	Het
Nlrp2	C	T	7: 5,308,710	R922H	probably benign	Het
Nol4l	T	C	2: 153,483,817	E116G	probably damaging	Het
Olfr201	A	G	16: 59,269,598	L23P	probably benign	Het
Olfr366	A	T	2: 37,219,977	M163L	possibly damaging	Het
Pcdhb20	A	C	18: 37,506,165	E581D	probably benign	Het
Pidd1	G	T	7: 141,439,418	T750K	probably benign	Het
Rab44	A	G	17: 29,139,810	E324G	probably benign	Het
Ramp3	T	C	11: 6,674,768	C21R	possibly damaging	Het
Rpap1	A	C	2: 119,775,369	M345R	probably damaging	Het
Serpina3k	A	C	12: 104,344,260	K350Q	probably benign	Het
St13	C	T	15: 81,366,346		probably null	Het
Stard9	A	T	2: 120,714,068	K4497*	probably null	Het
Tbx19	A	T	1: 165,147,633		probably null	Het
Tgoln1	A	G	6: 72,615,555	V314A	possibly damaging	Het
Them4	A	T	3: 94,324,371	I172F	probably damaging	Het
Tmc7	T	A	7: 118,547,623	Y477F	probably benign	Het
Tmem132a	A	G	19: 10,863,305	L421P	probably damaging	Het
Trim69	A	G	2: 122,167,910	E121G	probably damaging	Het
Vmn2r11	T	G	5: 109,047,110	R783S	possibly damaging	Het
Vmn2r62	T	A	7: 42,788,988	L141F	probably benign	Het
Zbtb7a	A	G	10: 81,148,071	N449S	possibly damaging	Het
Zfhx3	C	T	8: 108,800,641	R1057W	probably damaging	Het
Zfp180	G	T	7: 24,105,881	C575F	probably damaging	Het
Zfp462	G	A	4: 55,012,326	A1431T	probably benign	Het
Zfp592	T	C	7: 81,023,828	V180A	probably benign	Het
Zfp605	C	T	5: 110,127,445	P143L	probably benign	Het
Zfp646	T	C	7: 127,883,333	S1561P	probably benign	Het
Zfp706	T	C	15: 37,001,946	T46A	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
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
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'- CCTTCTGTTATGTGCCAGGG -3'
(R):5'- AGGAATCACAGCTTACAAAGGC -3'

Sequencing Primer
(F):5'- AGGGCTCCTTCACTTCAGTG -3'
(R):5'- TTACAAAGGCCACCCAAATTTATGG -3'

Posted On

2018-10-18