Mutagenetix > Incidental Mutation

Incidental Mutation 'R6958:Cpa6'

541561

Institutional Source

Beutler Lab

Gene Symbol

Cpa6

Ensembl Gene

ENSMUSG00000042501

Gene Name

carboxypeptidase A6

Synonyms

9030616D13Rik

MMRRC Submission

045009-MU

Accession Numbers

Essential gene?

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

Stock #

R6958 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

10394945-10790170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 10665913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 42 (V42M)

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: V42M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035435
Gene: ENSMUSG00000042501
AA Change: V42M

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 damaging
Transcript: ENSMUST00000153695
AA Change: V42M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118341
Gene: ENSMUSG00000042501
AA Change: V42M

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: 99.2%
20x: 96.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	G	3: 145,649,558 (GRCm39)	D159G	probably benign	Het
Ahnak	A	G	19: 8,992,579 (GRCm39)	N4621S	possibly damaging	Het
Ankrd16	C	T	2: 11,784,604 (GRCm39)	A144V	probably damaging	Het
Bhmt1b	G	A	18: 87,775,046 (GRCm39)	E190K	probably benign	Het
Ccdc14	T	C	16: 34,511,176 (GRCm39)	V2A	probably damaging	Het
Ccdc187	C	T	2: 26,179,731 (GRCm39)	V243I	probably benign	Het
Cdk12	A	T	11: 98,132,525 (GRCm39)	I985F	unknown	Het
Cfap65	T	C	1: 74,971,058 (GRCm39)	T87A	possibly damaging	Het
Cilp2	G	A	8: 70,335,190 (GRCm39)	P603S	probably benign	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Cpsf4	A	G	5: 145,112,402 (GRCm39)	I115V	probably benign	Het
Dnah11	G	T	12: 117,897,544 (GRCm39)	P3562Q	probably damaging	Het
Dnah9	A	G	11: 65,967,167 (GRCm39)	F1664L	probably damaging	Het
Dpysl3	T	C	18: 43,571,067 (GRCm39)	Q69R	probably benign	Het
Ebf3	T	C	7: 136,800,994 (GRCm39)	T455A	possibly damaging	Het
Eif2ak3	T	A	6: 70,869,667 (GRCm39)	C785S	probably benign	Het
Elk4	T	A	1: 131,945,570 (GRCm39)	F149L	probably damaging	Het
Fgf14	A	G	14: 124,914,009 (GRCm39)	W41R	probably benign	Het
Fmnl1	T	A	11: 103,062,140 (GRCm39)	M1K	probably null	Het
Foxk2	A	T	11: 121,190,563 (GRCm39)	Q568L	probably benign	Het
Fryl	T	G	5: 73,231,272 (GRCm39)	I1602L	possibly damaging	Het
Gfm2	A	G	13: 97,282,744 (GRCm39)	I75V	probably damaging	Het
Gm3233	T	A	10: 77,595,369 (GRCm39)		probably benign	Het
Gnb1	G	T	4: 155,627,651 (GRCm39)		probably null	Het
Gphn	G	T	12: 78,727,073 (GRCm39)	V662L	possibly damaging	Het
Il3	A	C	11: 54,157,937 (GRCm39)	V47G	probably benign	Het
Iqgap3	A	G	3: 88,020,673 (GRCm39)	D401G	possibly damaging	Het
Kdm3b	T	A	18: 34,941,336 (GRCm39)	S276T	probably benign	Het
Krtap6-2	A	G	16: 89,216,698 (GRCm39)	S90P	unknown	Het
Lars1	C	T	18: 42,369,704 (GRCm39)	V394I	probably damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrp10	A	G	14: 54,707,278 (GRCm39)		probably benign	Het
Ltn1	A	T	16: 87,194,679 (GRCm39)	C1407S	probably benign	Het
Lzts2	G	T	19: 45,012,582 (GRCm39)		probably benign	Het
Msantd2	A	G	9: 37,434,753 (GRCm39)	E331G	probably damaging	Het
Myo15a	G	A	11: 60,394,451 (GRCm39)	G1218S	probably benign	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Nhp2	A	G	11: 51,513,934 (GRCm39)	T118A	probably benign	Het
Nup155	A	G	15: 8,176,638 (GRCm39)	Y972C	probably damaging	Het
Nxpe2	A	T	9: 48,237,566 (GRCm39)	C230S	probably damaging	Het
Or12d13	T	C	17: 37,647,308 (GRCm39)	I272V	probably benign	Het
Or51g2	A	G	7: 102,623,091 (GRCm39)	L36P	possibly damaging	Het
Or5w8	T	C	2: 87,688,295 (GRCm39)	Y259H	probably damaging	Het
Pfkfb4	A	T	9: 108,839,615 (GRCm39)	N244I	probably damaging	Het
Pi4ka	C	T	16: 17,143,091 (GRCm39)	R24Q	probably damaging	Het
Pkd2l2	C	A	18: 34,542,543 (GRCm39)	Y8*	probably null	Het
Pramel20	A	T	4: 143,297,829 (GRCm39)	D83V	probably damaging	Het
Ptprb	T	A	10: 116,113,153 (GRCm39)	N44K	probably benign	Het
Sds	G	A	5: 120,619,537 (GRCm39)	V149M	probably damaging	Het
Slc22a30	A	G	19: 8,364,065 (GRCm39)	F204L	probably damaging	Het
Slc26a7	C	T	4: 14,506,442 (GRCm39)	A636T	probably benign	Het
Slc27a1	C	T	8: 72,038,083 (GRCm39)	A577V	possibly damaging	Het
Spata13	A	T	14: 60,989,300 (GRCm39)	T319S	possibly damaging	Het
Styxl2	T	A	1: 165,935,565 (GRCm39)	D211V	probably damaging	Het
Tdrd3	A	G	14: 87,694,532 (GRCm39)	D29G	probably damaging	Het
Tex15	A	T	8: 34,060,899 (GRCm39)	I110L	probably benign	Het
Treml2	A	G	17: 48,615,180 (GRCm39)	T222A	probably damaging	Het
Trpd52l3	A	T	19: 29,981,546 (GRCm39)	L100F	probably damaging	Het
Ttf2	C	T	3: 100,853,248 (GRCm39)	E975K	probably benign	Het
Vmn1r193	T	A	13: 22,404,144 (GRCm39)		probably benign	Het
Xpo1	A	G	11: 23,235,855 (GRCm39)	T648A	probably benign	Het
Zfp641	C	T	15: 98,190,832 (GRCm39)	V71I	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TGGCAGATGGATCGTCAGTG -3'
(R):5'- GCTGCAAGCAATCAGAGGATAC -3'

Sequencing Primer
(F):5'- CAGATGGATCGTCAGTGTTCTC -3'
(R):5'- CTGCCCTTAATACTTGAAAAGCTGTC -3'

Posted On

2018-11-28