Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02885:Cpa1'

362982

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpa1

Ensembl Gene

ENSMUSG00000054446

Gene Name

carboxypeptidase A1, pancreatic

Synonyms

0910001L12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02885

Quality Score

Status

Chromosome

Chromosomal Location

30639217-30645360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30645169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 382 (R382G)

Ref Sequence

ENSEMBL: ENSMUSP00000031806 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031806]

AlphaFold

Q7TPZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000031806
AA Change: R382G

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

SMART Domains

Protein: ENSMUSP00000031806
Gene: ENSMUSG00000054446
AA Change: R382G

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Propep_M14	26	100	1.6e-24	PFAM
Zn_pept	122	402	1.09e-132	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139004

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes carboxypeptidase A, a zinc-dependent metalloprotease that cleaves peptide bonds at the C-terminus of protein substrates. The encoded preproprotein undergoes proteolytic activation to generate a mature, functional enzyme. This gene is expressed in pancreas, the encoded protein is a major component of digestive enzymes secreted by pancreas and plays an important role in the process of digestion. This gene is located in a cluster of related carboxypeptidase genes on chromosome 6. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-in allele are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,948,152 (GRCm39)	N683S	probably benign	Het
Ahi1	T	A	10: 20,931,012 (GRCm39)	F46I	possibly damaging	Het
Als2	C	T	1: 59,206,650 (GRCm39)	V1598I	probably benign	Het
Arid1b	A	T	17: 5,392,428 (GRCm39)	D1986V	probably damaging	Het
Bhlhe41	T	A	6: 145,810,989 (GRCm39)	D2V	probably damaging	Het
Borcs6	A	G	11: 68,951,072 (GRCm39)	D150G	possibly damaging	Het
Ccdc88a	G	T	11: 29,398,050 (GRCm39)	R261L	probably damaging	Het
Ccne2	T	A	4: 11,198,723 (GRCm39)		probably benign	Het
Cenpk	A	G	13: 104,385,903 (GRCm39)	D266G	probably damaging	Het
Ces2b	T	C	8: 105,561,563 (GRCm39)	V219A	probably damaging	Het
Cplx4	G	T	18: 66,089,984 (GRCm39)	T145N	probably damaging	Het
Cyp19a1	T	C	9: 54,079,102 (GRCm39)	I269V	probably benign	Het
Dennd3	A	G	15: 73,440,545 (GRCm39)	Y1192C	probably benign	Het
Dpp6	T	C	5: 27,923,471 (GRCm39)	Y694H	probably damaging	Het
Eea1	C	A	10: 95,877,346 (GRCm39)	N1353K	probably benign	Het
Fam111a	T	A	19: 12,561,488 (GRCm39)		probably null	Het
Fat1	T	C	8: 45,442,204 (GRCm39)	S1169P	probably benign	Het
Frk	G	T	10: 34,360,067 (GRCm39)	A23S	probably benign	Het
Fyb2	T	C	4: 104,861,118 (GRCm39)	V594A	probably damaging	Het
Gtpbp3	C	A	8: 71,942,064 (GRCm39)		probably benign	Het
Hoxa5	G	T	6: 52,179,688 (GRCm39)	A229D	probably damaging	Het
Ift25	G	A	4: 107,130,866 (GRCm39)	C52Y	possibly damaging	Het
Igf2r	A	T	17: 12,913,007 (GRCm39)	F1780L	possibly damaging	Het
Jade2	A	T	11: 51,722,123 (GRCm39)	D143E	probably damaging	Het
Kdm1a	T	C	4: 136,279,846 (GRCm39)	I719V	probably benign	Het
Lama1	G	A	17: 68,111,531 (GRCm39)	G2261R	probably damaging	Het
Lmx1b	G	T	2: 33,457,216 (GRCm39)	Q206K	probably benign	Het
Lrrtm4	G	A	6: 79,998,786 (GRCm39)	G66D	probably damaging	Het
Myg1	G	T	15: 102,240,594 (GRCm39)	G90C	probably damaging	Het
Nbea	C	T	3: 55,539,407 (GRCm39)	V2785I	probably benign	Het
Ncr1	C	A	7: 4,341,225 (GRCm39)	P35Q	probably damaging	Het
Nos1	T	A	5: 118,033,855 (GRCm39)	C326S	probably damaging	Het
Or12j2	T	C	7: 139,916,072 (GRCm39)	F99S	possibly damaging	Het
Or3a1	G	T	11: 74,225,519 (GRCm39)	H179Q	possibly damaging	Het
Or52r1	A	T	7: 102,537,243 (GRCm39)	V39E	possibly damaging	Het
Pde4d	A	G	13: 110,084,795 (GRCm39)	Y520C	probably damaging	Het
Ppm1d	A	G	11: 85,217,770 (GRCm39)	M178V	possibly damaging	Het
Samd3	G	A	10: 26,147,762 (GRCm39)	R479K	probably benign	Het
Semp2l2b	T	A	10: 21,943,057 (GRCm39)	I308F	possibly damaging	Het
Serpinb6a	A	G	13: 34,102,782 (GRCm39)	V226A	probably benign	Het
Slc26a4	T	C	12: 31,575,475 (GRCm39)	E737G	probably benign	Het
Slc34a3	A	G	2: 25,121,069 (GRCm39)	C340R	probably damaging	Het
Spata31d1b	C	A	13: 59,866,941 (GRCm39)		probably benign	Het
Trappc12	A	G	12: 28,797,013 (GRCm39)	V173A	probably benign	Het
Vmn2r66	A	T	7: 84,644,723 (GRCm39)	D562E	probably benign	Het
Zfp395	C	T	14: 65,633,344 (GRCm39)	P451L	probably benign	Het

Other mutations in Cpa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Cpa1	APN	6	30,642,968 (GRCm39)	missense	probably benign	0.05
IGL01288:Cpa1	APN	6	30,640,582 (GRCm39)	missense	probably damaging	1.00
IGL01402:Cpa1	APN	6	30,645,275 (GRCm39)	missense	possibly damaging	0.83
IGL01504:Cpa1	APN	6	30,640,720 (GRCm39)	missense	probably benign	0.00
IGL01980:Cpa1	APN	6	30,641,581 (GRCm39)	missense	possibly damaging	0.78
P0026:Cpa1	UTSW	6	30,640,905 (GRCm39)	missense	probably damaging	0.96
PIT4544001:Cpa1	UTSW	6	30,641,857 (GRCm39)	missense	probably benign	0.00
R0398:Cpa1	UTSW	6	30,645,250 (GRCm39)	missense	probably benign	0.00
R0403:Cpa1	UTSW	6	30,641,856 (GRCm39)	missense	probably benign	0.15
R1117:Cpa1	UTSW	6	30,645,260 (GRCm39)	missense	probably benign	0.16
R1548:Cpa1	UTSW	6	30,642,334 (GRCm39)	missense	probably damaging	1.00
R1631:Cpa1	UTSW	6	30,640,923 (GRCm39)	missense	probably damaging	1.00
R1780:Cpa1	UTSW	6	30,643,007 (GRCm39)	missense	probably damaging	1.00
R2202:Cpa1	UTSW	6	30,641,818 (GRCm39)	missense	probably damaging	1.00
R2203:Cpa1	UTSW	6	30,641,818 (GRCm39)	missense	probably damaging	1.00
R2204:Cpa1	UTSW	6	30,641,818 (GRCm39)	missense	probably damaging	1.00
R2205:Cpa1	UTSW	6	30,641,818 (GRCm39)	missense	probably damaging	1.00
R4838:Cpa1	UTSW	6	30,639,515 (GRCm39)	missense	possibly damaging	0.80
R5497:Cpa1	UTSW	6	30,640,729 (GRCm39)	missense	probably benign	0.42
R6306:Cpa1	UTSW	6	30,640,953 (GRCm39)	missense	probably damaging	1.00
R7062:Cpa1	UTSW	6	30,640,676 (GRCm39)	missense	probably benign	0.03
R7085:Cpa1	UTSW	6	30,643,619 (GRCm39)	missense	probably benign	0.10
R7564:Cpa1	UTSW	6	30,641,767 (GRCm39)	missense	probably damaging	0.97
R8743:Cpa1	UTSW	6	30,642,992 (GRCm39)	missense	probably damaging	1.00
R8785:Cpa1	UTSW	6	30,645,251 (GRCm39)	missense	probably benign	0.35
R9535:Cpa1	UTSW	6	30,641,847 (GRCm39)	missense	probably damaging	1.00
R9568:Cpa1	UTSW	6	30,640,060 (GRCm39)	missense	probably benign	0.00

Posted On

2015-12-18