Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01710:Cpa6'

104766

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpa6

Ensembl Gene

ENSMUSG00000042501

Gene Name

carboxypeptidase A6

Synonyms

9030616D13Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01710

Quality Score

Status

Chromosome

Chromosomal Location

10394945-10790170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 10395497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 390 (N390I)

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: N390I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035435
Gene: ENSMUSG00000042501
AA Change: N390I

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

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	G	A	18: 62,004,645 (GRCm39)	T48I	probably damaging	Het
Ccpg1	T	C	9: 72,904,723 (GRCm39)		probably benign	Het
Chkb	G	A	15: 89,310,843 (GRCm39)	Q379*	probably null	Het
Chst15	T	A	7: 131,872,236 (GRCm39)	D15V	probably benign	Het
Cntn4	G	A	6: 106,527,392 (GRCm39)	V425I	possibly damaging	Het
Efhd2	A	G	4: 141,587,872 (GRCm39)	F193S	probably damaging	Het
Ell3	T	C	2: 121,271,993 (GRCm39)	H128R	probably damaging	Het
Ercc5	T	G	1: 44,203,235 (GRCm39)	L291V	probably damaging	Het
Eva1c	A	G	16: 90,701,235 (GRCm39)	Y302C	probably damaging	Het
Fmo3	A	C	1: 162,810,612 (GRCm39)	L26R	probably damaging	Het
Galntl6	T	A	8: 58,989,002 (GRCm39)	D17V	probably damaging	Het
Gm6483	C	T	8: 19,741,629 (GRCm39)	P55S	probably damaging	Het
Gstt2	A	G	10: 75,669,579 (GRCm39)		probably benign	Het
Hmcn2	T	A	2: 31,233,114 (GRCm39)	L221Q	probably damaging	Het
Hoxa3	T	C	6: 52,147,554 (GRCm39)		probably benign	Het
Kctd12b	T	C	X: 152,472,479 (GRCm39)	D70G	probably damaging	Het
Kdm7a	T	A	6: 39,152,320 (GRCm39)	E125D	probably benign	Het
Klk1b21	T	A	7: 43,755,919 (GRCm39)	F249L	probably benign	Het
Mrpl41	T	C	2: 24,864,429 (GRCm39)	D81G	possibly damaging	Het
Nomo1	T	A	7: 45,687,980 (GRCm39)	L82Q	probably damaging	Het
Or5p58	G	T	7: 107,694,449 (GRCm39)	F109L	probably benign	Het
Papolg	A	T	11: 23,814,026 (GRCm39)	S718T	probably damaging	Het
Pex6	A	G	17: 47,036,252 (GRCm39)		probably benign	Het
Pi4k2a	T	A	19: 42,093,418 (GRCm39)	L253Q	probably damaging	Het
Prdx6b	T	A	2: 80,123,490 (GRCm39)	F100I	probably damaging	Het
Prr36	G	A	8: 4,265,243 (GRCm39)	P169L	probably damaging	Het
Ptgfrn	T	C	3: 100,980,404 (GRCm39)	E312G	probably damaging	Het
Rasgrf1	A	G	9: 89,873,745 (GRCm39)	I685V	probably benign	Het
Setdb1	T	C	3: 95,246,164 (GRCm39)	E586G	probably damaging	Het
Sez6l2	C	A	7: 126,567,388 (GRCm39)	T841K	probably damaging	Het
Slc25a17	A	T	15: 81,211,527 (GRCm39)	L163*	probably null	Het
Slc35f3	A	T	8: 127,115,900 (GRCm39)	I276F	probably benign	Het
Tcerg1l	T	A	7: 137,996,789 (GRCm39)	K149N	possibly damaging	Het
Tex28	T	A	X: 73,195,939 (GRCm39)	K278*	probably null	Het
Tmprss9	A	G	10: 80,733,793 (GRCm39)		probably benign	Het
Tnfaip8l1	A	G	17: 56,478,782 (GRCm39)	K24R	probably benign	Het
Trim36	T	C	18: 46,321,455 (GRCm39)		probably benign	Het
Uba1	C	T	X: 20,537,604 (GRCm39)	T274I	possibly damaging	Het
Ubr2	T	C	17: 47,254,335 (GRCm39)	T1439A	probably benign	Het
Ubr4	A	G	4: 139,145,772 (GRCm39)	D1523G	possibly damaging	Het
Uchl4	A	T	9: 64,142,788 (GRCm39)	T90S	probably benign	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
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
R7274:Cpa6	UTSW	1	10,479,524 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-01-21