Mutagenetix > Incidental Mutation

Incidental Mutation 'R1631:Cpa1'

172786

Institutional Source

Beutler Lab

Gene Symbol

Cpa1

Ensembl Gene

ENSMUSG00000054446

Gene Name

carboxypeptidase A1, pancreatic

Synonyms

0910001L12Rik

MMRRC Submission

039668-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1631 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30639217-30645360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30640923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 138 (E138G)

Ref Sequence

ENSEMBL: ENSMUSP00000031806 (fasta)

Gene Model

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

AlphaFold

Q7TPZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000031806
AA Change: E138G

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

SMART Domains

Protein: ENSMUSP00000031806
Gene: ENSMUSG00000054446
AA Change: E138G

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

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 93.0%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	T	A	17: 33,756,316 (GRCm39)	S320T	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Als2	T	C	1: 59,257,226 (GRCm39)	E12G	probably benign	Het
Arhgef10	A	T	8: 14,997,157 (GRCm39)	D321V	probably damaging	Het
Atp8a1	T	G	5: 67,906,395 (GRCm39)		probably null	Het
Avil	A	G	10: 126,846,494 (GRCm39)		probably null	Het
C2cd3	G	A	7: 100,021,704 (GRCm39)		probably null	Het
Cdhr18	C	T	14: 13,829,796 (GRCm38)	E649K	probably damaging	Het
Col18a1	G	A	10: 76,895,131 (GRCm39)	P1177S	probably damaging	Het
Copb2	T	A	9: 98,462,213 (GRCm39)	F428L	probably benign	Het
Ctsm	T	C	13: 61,686,249 (GRCm39)	I12V	possibly damaging	Het
Dctn1	A	G	6: 83,174,578 (GRCm39)	Q967R	possibly damaging	Het
Dok2	T	C	14: 71,014,393 (GRCm39)	Y194H	probably damaging	Het
Ezh2	C	T	6: 47,554,592 (GRCm39)	M1I	probably null	Het
Fkbp8	T	A	8: 70,984,282 (GRCm39)	L210Q	probably damaging	Het
Fpr1	T	A	17: 18,097,263 (GRCm39)	Q242L	probably benign	Het
Gal3st2b	T	A	1: 93,868,505 (GRCm39)	D243E	probably damaging	Het
Gm5422	A	G	10: 31,125,802 (GRCm39)		noncoding transcript	Het
Gucy1a2	A	G	9: 3,533,052 (GRCm39)	N84D	probably damaging	Het
Hsd3b5	A	C	3: 98,529,393 (GRCm39)	V79G	probably damaging	Het
Htr6	A	T	4: 138,788,804 (GRCm39)	V417E	probably benign	Het
Ifnar2	G	A	16: 91,188,755 (GRCm39)	V79I	probably benign	Het
Ighv10-1	T	C	12: 114,443,102 (GRCm39)		probably benign	Het
Itpr2	A	G	6: 146,081,788 (GRCm39)	F182L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lama3	A	G	18: 12,540,551 (GRCm39)	Y285C	probably damaging	Het
Lamc2	C	A	1: 153,034,680 (GRCm39)	V108L	possibly damaging	Het
Lrrc14b	A	G	13: 74,509,373 (GRCm39)		probably null	Het
Magi3	T	C	3: 103,958,493 (GRCm39)	T531A	probably benign	Het
Mapre2	A	G	18: 23,966,011 (GRCm39)	Y32C	probably damaging	Het
Med1	C	T	11: 98,046,452 (GRCm39)		probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nt5el	C	A	13: 105,218,749 (GRCm39)	Q28K	probably benign	Het
Or10a3b	A	C	7: 108,445,064 (GRCm39)	L51R	probably damaging	Het
Or51h1	A	G	7: 102,308,408 (GRCm39)	I127V	probably damaging	Het
Or5h23	G	A	16: 58,906,408 (GRCm39)	T146I	probably benign	Het
Or7a35	A	T	10: 78,853,239 (GRCm39)	I28L	probably benign	Het
Pde1b	A	G	15: 103,430,099 (GRCm39)	T143A	probably damaging	Het
Pkhd1	T	C	1: 20,593,121 (GRCm39)	D1664G	probably benign	Het
Plod3	C	T	5: 137,017,847 (GRCm39)	R208W	probably damaging	Het
Pstk	G	A	7: 130,986,271 (GRCm39)	A277T	possibly damaging	Het
Qrich1	T	C	9: 108,411,684 (GRCm39)	V403A	probably damaging	Het
Rad21	C	A	15: 51,833,436 (GRCm39)	V348F	probably damaging	Het
Sacs	T	A	14: 61,448,181 (GRCm39)	L3409*	probably null	Het
Setd4	T	A	16: 93,390,136 (GRCm39)	K98*	probably null	Het
Skint5	A	G	4: 113,341,123 (GRCm39)	V1385A	probably benign	Het
Stam	C	A	2: 14,151,059 (GRCm39)	S472*	probably null	Het
Stx2	A	G	5: 129,069,289 (GRCm39)	F141L	probably damaging	Het
Tia1	A	G	6: 86,397,330 (GRCm39)	D101G	probably damaging	Het
Ttc21a	T	A	9: 119,783,228 (GRCm39)		probably null	Het
Usp34	T	A	11: 23,410,651 (GRCm39)	N2700K	probably damaging	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
IGL02885:Cpa1	APN	6	30,645,169 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CACCGATGCTTTCAATTATGCCACC -3'
(R):5'- CCCAGTTCTGATGCTCAGATGCAC -3'

Sequencing Primer
(F):5'- CTACCATACTCTGGATGAGGTGAG -3'
(R):5'- CTAGGTAGGAATGCTCAGACCTC -3'

Posted On

2014-04-24