Mutagenetix > Incidental Mutation

Incidental Mutation 'R8140:Cpa6'

632456

Institutional Source

Beutler Lab

Gene Symbol

Cpa6

Ensembl Gene

ENSMUSG00000042501

Gene Name

carboxypeptidase A6

Synonyms

9030616D13Rik

MMRRC Submission

067568-MU

Accession Numbers

Essential gene?

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

Stock #

R8140 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

10394945-10790170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10395519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 383 (S383P)

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: S383P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000035435
Gene: ENSMUSG00000042501
AA Change: S383P

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

Meta Mutation Damage Score

0.9140

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 93.9%

Validation Efficiency

97% (64/66)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,055,954 (GRCm39)	V230E	possibly damaging	Het
Amotl1	G	A	9: 14,484,011 (GRCm39)		probably null	Het
Atp7b	C	A	8: 22,518,576 (GRCm39)	E87D	probably damaging	Het
Bcat2	C	T	7: 45,237,775 (GRCm39)	P347L	probably damaging	Het
Brox	A	T	1: 183,075,437 (GRCm39)		probably null	Het
Cd37	A	G	7: 44,887,959 (GRCm39)	I58T	probably damaging	Het
Cep295	A	T	9: 15,252,829 (GRCm39)	M333K	probably benign	Het
Chtop	A	G	3: 90,412,700 (GRCm39)		probably null	Het
Cpa2	A	T	6: 30,544,904 (GRCm39)	K54N	probably benign	Het
Dnah7a	A	T	1: 53,540,748 (GRCm39)	I2542N	probably benign	Het
Eif5b	G	A	1: 38,090,357 (GRCm39)	V1179I	probably benign	Het
Erbin	T	C	13: 104,056,802 (GRCm39)		probably null	Het
Fastkd5	A	T	2: 130,457,170 (GRCm39)	D473E	possibly damaging	Het
Fchsd1	T	C	18: 38,097,395 (GRCm39)	E372G	probably damaging	Het
Fgl1	T	C	8: 41,653,646 (GRCm39)		probably null	Het
Fzd8	T	G	18: 9,213,797 (GRCm39)	V293G	probably damaging	Het
Gm4787	T	A	12: 81,424,925 (GRCm39)	H411L	probably benign	Het
Gm49380	G	T	9: 44,023,269 (GRCm39)	D326E	probably benign	Het
Hcrtr1	G	A	4: 130,029,083 (GRCm39)	R240C	probably damaging	Het
Hdac5	A	T	11: 102,088,181 (GRCm39)	Y948N	probably damaging	Het
Hepacam	A	G	9: 37,295,167 (GRCm39)	S301G	probably benign	Het
Htra4	A	T	8: 25,520,574 (GRCm39)	D362E	possibly damaging	Het
Ighv1-9	G	A	12: 114,547,361 (GRCm39)	P60L	probably damaging	Het
Kcnq3	A	G	15: 65,867,390 (GRCm39)	I751T	probably damaging	Het
Magi3	T	C	3: 103,941,402 (GRCm39)	Y851C	probably damaging	Het
Mefv	A	G	16: 3,531,499 (GRCm39)	S470P	probably benign	Het
Mfsd2a	C	T	4: 122,843,091 (GRCm39)	V397I	probably benign	Het
Mroh1	C	A	15: 76,318,073 (GRCm39)	H867N	probably benign	Het
Mthfd1l	C	T	10: 3,957,745 (GRCm39)	R261*	probably null	Het
Myo3a	A	G	2: 22,412,157 (GRCm39)	I725M	probably damaging	Het
Neb	T	C	2: 52,099,552 (GRCm39)	D4766G	possibly damaging	Het
Nek11	G	T	9: 105,270,156 (GRCm39)	P22Q	probably damaging	Het
Or4p18	T	C	2: 88,232,457 (GRCm39)	T274A	possibly damaging	Het
Or5k15	T	C	16: 58,709,948 (GRCm39)	T212A	probably benign	Het
Or9q2	A	T	19: 13,772,603 (GRCm39)	V124E	possibly damaging	Het
Peg10	C	G	6: 4,756,113 (GRCm39)	Q230E	unknown	Het
Pipox	T	C	11: 77,774,735 (GRCm39)	D116G	probably benign	Het
Pkd1l2	C	T	8: 117,774,236 (GRCm39)	R993H	probably benign	Het
Pkdrej	A	C	15: 85,702,611 (GRCm39)	N1108K	probably damaging	Het
Polr2a	C	T	11: 69,637,202 (GRCm39)	R291Q	probably benign	Het
Pomt1	T	A	2: 32,134,309 (GRCm39)	Y277N	probably damaging	Het
Rasal2	A	G	1: 157,126,805 (GRCm39)	S78P	probably damaging	Het
Rgl1	A	T	1: 152,433,252 (GRCm39)	L171Q	probably damaging	Het
Sfta2	A	G	17: 35,912,666 (GRCm39)	E14G	unknown	Het
Sh3rf3	T	A	10: 58,885,177 (GRCm39)	S353R	possibly damaging	Het
Slc37a1	A	T	17: 31,541,233 (GRCm39)	I242F	probably damaging	Het
Srfbp1	T	A	18: 52,621,762 (GRCm39)	D274E	probably damaging	Het
Syne2	T	A	12: 75,959,127 (GRCm39)	S685R	possibly damaging	Het
Tenm4	A	C	7: 96,544,383 (GRCm39)	D2170A	probably damaging	Het
Tnr	A	G	1: 159,691,265 (GRCm39)	T472A	probably damaging	Het
Tspan9	T	C	6: 127,942,241 (GRCm39)	H203R	probably damaging	Het
Ttn	T	C	2: 76,601,995 (GRCm39)	T18556A	possibly damaging	Het
Usp25	T	A	16: 76,868,569 (GRCm39)	Y323*	probably null	Het
Usp31	G	T	7: 121,248,249 (GRCm39)	R1065S	possibly damaging	Het
Vmn2r103	A	T	17: 20,032,058 (GRCm39)	T611S	probably damaging	Het
Wdfy4	A	G	14: 32,864,317 (GRCm39)	V552A		Het
Zap70	G	T	1: 36,810,262 (GRCm39)	R124L	possibly damaging	Het
Zfand6	A	T	7: 84,281,957 (GRCm39)	S91T	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
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
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'- TGCCAAGGTGCCTTTTGATC -3'
(R):5'- CCAGATGCTGAAGAACACTGTTAG -3'

Sequencing Primer
(F):5'- GACTAGATGACTGTTCCTCTCAAGG -3'
(R):5'- TGCTGAAGAACACTGTTAGAATATTC -3'

Posted On

2020-06-30