Mutagenetix > Incidental Mutation

Incidental Mutation 'R7274:Cpa6'

565428

Institutional Source

Beutler Lab

Gene Symbol

Cpa6

Ensembl Gene

ENSMUSG00000042501

Gene Name

carboxypeptidase A6

Synonyms

9030616D13Rik

MMRRC Submission

067851-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R7274 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10394945-10790170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 10479524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 236 (M236I)

Ref Sequence

ENSEMBL: ENSMUSP00000035435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035577] [ENSMUST00000153695]

AlphaFold

Q5U901

Predicted Effect

probably damaging
Transcript: ENSMUST00000035577
AA Change: M236I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035435
Gene: ENSMUSG00000042501
AA Change: M236I

Domain	Start	End	E-Value	Type
Pfam:Propep_M14	43	119	3.1e-17	PFAM
Zn_pept	139	421	2.19e-123	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153695

SMART Domains

Protein: ENSMUSP00000118341
Gene: ENSMUSG00000042501

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
SCOP:d1kwma2	31	64	2e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: This gene encodes a protein that belongs to the metallocarboxypeptidase family of proteins that catalyze the release of a C-terminal amino acid from the target protein. The encoded preproprotein undergoes proteolytic cleavage to yield the mature form which is thought to play a role in cell migration. In humans, this protein regulates neuropeptides in the brain and mutations in this gene are associated with a recessive familial form of febrile seizures and with temporal lobe epilepsy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190005I06Rik	T	C	8: 121,338,005 (GRCm39)	S69G	possibly damaging	Het
Alg12	G	A	15: 88,690,910 (GRCm39)	S337F	probably damaging	Het
Bcl11a	T	C	11: 24,113,985 (GRCm39)	S443P	probably damaging	Het
C1qtnf4	T	C	2: 90,719,885 (GRCm39)	Y53H	probably damaging	Het
Cacna1d	T	A	14: 29,864,600 (GRCm39)	E454V	probably damaging	Het
Cacna1h	A	G	17: 25,597,811 (GRCm39)	F1761S	probably damaging	Het
Cacna1i	A	T	15: 80,261,023 (GRCm39)	I1344F	possibly damaging	Het
Cat	T	C	2: 103,307,235 (GRCm39)	N33D	probably benign	Het
Cdh17	C	T	4: 11,783,174 (GRCm39)	Q172*	probably null	Het
Chrna2	A	G	14: 66,386,675 (GRCm39)	I274V	probably benign	Het
Cog2	T	G	8: 125,262,258 (GRCm39)	S299A	possibly damaging	Het
Crym	T	A	7: 119,789,742 (GRCm39)	Q242L	probably benign	Het
Ddx60	T	C	8: 62,393,142 (GRCm39)		probably null	Het
Eif4a3l1	A	G	6: 136,306,396 (GRCm39)	T286A	possibly damaging	Het
Epdr1	A	T	13: 19,777,458 (GRCm39)	I180N	possibly damaging	Het
Fancd2os	G	A	6: 113,574,851 (GRCm39)	L52F	probably benign	Het
Fbxo16	C	A	14: 65,558,716 (GRCm39)	R292S	probably benign	Het
Fn1	T	C	1: 71,667,272 (GRCm39)	Q820R	probably benign	Het
Gm4131	T	A	14: 62,704,301 (GRCm39)	Y140F	possibly damaging	Het
Grin2a	T	C	16: 9,396,986 (GRCm39)	R1034G	possibly damaging	Het
Hypk	A	G	2: 121,284,805 (GRCm39)		probably benign	Het
Ighmbp2	A	G	19: 3,314,951 (GRCm39)	V823A	probably benign	Het
Irf5	A	G	6: 29,534,039 (GRCm39)	N95S	probably damaging	Het
Kdr	A	T	5: 76,125,360 (GRCm39)	M379K	probably benign	Het
Kif19a	G	T	11: 114,656,281 (GRCm39)		probably benign	Het
Klhdc4	T	C	8: 122,526,397 (GRCm39)		probably null	Het
Lama2	A	T	10: 26,995,976 (GRCm39)	I1717N	probably damaging	Het
Lama4	A	T	10: 38,968,295 (GRCm39)	Q1479L	probably benign	Het
Lgr5	T	A	10: 115,288,410 (GRCm39)	T745S	probably damaging	Het
Lifr	T	A	15: 7,196,540 (GRCm39)		probably null	Het
Llgl1	C	T	11: 60,596,812 (GRCm39)	R138C	possibly damaging	Het
Mccc1	A	T	3: 36,044,005 (GRCm39)	V246E	probably damaging	Het
Mdn1	T	A	4: 32,725,944 (GRCm39)	L2621H	probably benign	Het
Mecr	C	A	4: 131,581,089 (GRCm39)	A80D	probably damaging	Het
Mia2	A	G	12: 59,154,905 (GRCm39)	E206G	probably damaging	Het
Nubpl	A	G	12: 52,179,203 (GRCm39)		probably benign	Het
Obscn	C	T	11: 59,024,053 (GRCm39)	R539H	probably damaging	Het
Or4n4b	T	A	14: 50,535,879 (GRCm39)	T296S	probably benign	Het
Or8h10	A	G	2: 86,808,867 (GRCm39)	V91A	probably benign	Het
Pde5a	A	T	3: 122,648,895 (GRCm39)	K838*	probably null	Het
Pgm3	A	G	9: 86,444,650 (GRCm39)	L295P	probably damaging	Het
Pkp2	T	C	16: 16,064,793 (GRCm39)	L439P	possibly damaging	Het
Polr1a	T	A	6: 71,897,500 (GRCm39)	C205*	probably null	Het
Rab3gap1	T	A	1: 127,855,249 (GRCm39)	I429K	probably benign	Het
Rassf8	T	C	6: 145,761,295 (GRCm39)	V207A	probably benign	Het
Sacs	T	A	14: 61,451,530 (GRCm39)	D4525E	possibly damaging	Het
Sec24a	A	T	11: 51,598,082 (GRCm39)	L864Q	probably damaging	Het
Spats2l	C	A	1: 57,918,672 (GRCm39)	Y35*	probably null	Het
Sptlc2	A	T	12: 87,388,380 (GRCm39)	D367E	probably benign	Het
Ssc4d	T	C	5: 135,996,810 (GRCm39)	D97G	possibly damaging	Het
Tjp1	A	G	7: 65,177,400 (GRCm39)	Y3H	possibly damaging	Het
Tkt	T	A	14: 30,291,102 (GRCm39)		probably null	Het
Trim60	T	A	8: 65,453,133 (GRCm39)	N372I	possibly damaging	Het
Trpm2	T	C	10: 77,759,389 (GRCm39)	N1132D	probably benign	Het
Tsc22d1	T	C	14: 76,654,154 (GRCm39)	I211T	probably damaging	Het
Ttc39b	T	C	4: 83,180,088 (GRCm39)	K132E	possibly damaging	Het
Ttn	C	T	2: 76,553,932 (GRCm39)	V30924I	probably damaging	Het
Tubgcp6	G	A	15: 88,987,173 (GRCm39)	Q1267*	probably null	Het
Zfp30	C	A	7: 29,492,043 (GRCm39)	T180N	probably benign	Het
Zp2	A	G	7: 119,731,614 (GRCm39)	*714R	probably null	Het

Other mutations in Cpa6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00858:Cpa6	APN	1	10,554,219 (GRCm39)	missense	probably damaging	1.00
IGL00933:Cpa6	APN	1	10,407,595 (GRCm39)	missense	probably benign	0.03
IGL01710:Cpa6	APN	1	10,395,497 (GRCm39)	missense	probably damaging	0.99
IGL02211:Cpa6	APN	1	10,665,861 (GRCm39)	missense	possibly damaging	0.83
IGL02504:Cpa6	APN	1	10,559,144 (GRCm39)	missense	probably benign	0.19
R0487:Cpa6	UTSW	1	10,479,487 (GRCm39)	missense	possibly damaging	0.77
R1260:Cpa6	UTSW	1	10,395,544 (GRCm39)	splice site	probably null
R2154:Cpa6	UTSW	1	10,407,547 (GRCm39)	missense	probably damaging	1.00
R4705:Cpa6	UTSW	1	10,551,283 (GRCm39)	missense	probably benign	0.03
R4788:Cpa6	UTSW	1	10,478,502 (GRCm39)	missense	possibly damaging	0.95
R4872:Cpa6	UTSW	1	10,665,843 (GRCm39)	critical splice donor site	probably null
R4941:Cpa6	UTSW	1	10,479,562 (GRCm39)	missense	probably benign	0.25
R5656:Cpa6	UTSW	1	10,399,739 (GRCm39)	missense	probably benign	0.19
R5969:Cpa6	UTSW	1	10,559,108 (GRCm39)	missense	probably benign	0.15
R6019:Cpa6	UTSW	1	10,665,868 (GRCm39)	missense	possibly damaging	0.88
R6322:Cpa6	UTSW	1	10,547,346 (GRCm39)	missense	possibly damaging	0.77
R6958:Cpa6	UTSW	1	10,665,913 (GRCm39)	missense	probably damaging	1.00
R7154:Cpa6	UTSW	1	10,407,694 (GRCm39)	missense	possibly damaging	0.71
R8140:Cpa6	UTSW	1	10,395,519 (GRCm39)	missense	probably damaging	1.00
R8559:Cpa6	UTSW	1	10,478,574 (GRCm39)	nonsense	probably null
R9042:Cpa6	UTSW	1	10,407,515 (GRCm39)	missense	probably benign	0.05
R9297:Cpa6	UTSW	1	10,554,273 (GRCm39)	missense	possibly damaging	0.95
R9355:Cpa6	UTSW	1	10,479,520 (GRCm39)	missense	probably benign	0.09
R9498:Cpa6	UTSW	1	10,479,546 (GRCm39)	missense	possibly damaging	0.73
Z1177:Cpa6	UTSW	1	10,399,784 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCTTCTAACACCATCCAG -3'
(R):5'- GTTACCTTTCAGTCCAGCAGG -3'

Sequencing Primer
(F):5'- GCCTTCTAACACCATCCAGTATCTC -3'
(R):5'- TTCAGTCCAGCAGGTATGATC -3'

Posted On

2019-06-26