Mutagenetix > Incidental Mutation

Incidental Mutation 'R1780:Cpa1'

197444

Institutional Source

Beutler Lab

Gene Symbol

Cpa1

Ensembl Gene

ENSMUSG00000054446

Gene Name

carboxypeptidase A1, pancreatic

Synonyms

0910001L12Rik

MMRRC Submission

039811-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1780 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30639218-30645363 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30643008 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 312 (L312F)

Ref Sequence

ENSEMBL: ENSMUSP00000031806 (fasta)

Gene Model

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

AlphaFold

Q7TPZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000031806
AA Change: L312F

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

SMART Domains

Protein: ENSMUSP00000031806
Gene: ENSMUSG00000054446
AA Change: L312F

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

Meta Mutation Damage Score

0.3391

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.3%

Validation Efficiency

98% (80/82)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,852,593	E493G	probably damaging	Het
Aff3	A	T	1: 38,535,702	S66T	probably damaging	Het
Ankrd17	T	A	5: 90,232,415	K2470N	probably damaging	Het
Ap3m1	T	C	14: 21,041,070	T156A	probably benign	Het
Arhgef4	T	A	1: 34,724,160	S832R	possibly damaging	Het
Asb10	T	C	5: 24,533,676	D423G	possibly damaging	Het
Ash1l	A	G	3: 88,965,984	T25A	probably benign	Het
Atp13a2	T	A	4: 141,002,460	L663I	possibly damaging	Het
Atp9b	A	T	18: 80,776,897	Y174*	probably null	Het
Bche	A	G	3: 73,700,620	I491T	probably benign	Het
Bckdhb	T	C	9: 83,953,783		probably null	Het
Cadps2	C	T	6: 23,320,932		probably null	Het
Cdc42bpb	A	T	12: 111,322,907	V468E	probably damaging	Het
Chrnd	T	C	1: 87,192,548	V33A	possibly damaging	Het
Col6a5	A	T	9: 105,936,878	V645D	unknown	Het
Cyp2a5	A	G	7: 26,841,876		probably benign	Het
Cyp2c39	C	A	19: 39,538,851		probably benign	Het
Cyp2d26	T	C	15: 82,794,007	N56S	probably damaging	Het
Ddx21	A	G	10: 62,594,147		probably benign	Het
Dnah11	A	T	12: 118,027,558	C2358S	probably damaging	Het
Entpd8	T	C	2: 25,084,306	S368P	probably benign	Het
Epg5	A	T	18: 78,023,990	Q2222L	probably damaging	Het
Ercc5	T	A	1: 44,167,796	V623E	probably benign	Het
Flg2	A	G	3: 93,202,999	E778G	unknown	Het
Gbe1	C	T	16: 70,495,324	R515*	probably null	Het
Hsd17b6	A	G	10: 127,994,327		probably null	Het
Hyal6	C	T	6: 24,734,032		probably benign	Het
Ifi27l2b	A	G	12: 103,451,319	I203T	probably damaging	Het
Kcnk9	A	C	15: 72,512,401	D309E	unknown	Het
Lrp6	C	T	6: 134,464,451	R1184Q	probably damaging	Het
Mdn1	T	C	4: 32,700,103	F1399L	probably damaging	Het
Mroh2a	C	T	1: 88,230,680	R150*	probably null	Het
Mx1	T	C	16: 97,451,512	*289W	probably null	Het
Myo7b	T	C	18: 31,961,185	E1970G	probably damaging	Het
Mypn	T	C	10: 63,121,964	Y24C	probably damaging	Het
Naxe	G	C	3: 88,057,133	P167A	probably benign	Het
Nmnat2	A	T	1: 153,112,440	K272*	probably null	Het
Nmnat3	C	T	9: 98,354,111	T19M	probably damaging	Het
Olfr1275	T	C	2: 111,231,698	I32V	probably benign	Het
Olfr1412	G	A	1: 92,588,389	V20M	probably benign	Het
Olfr1474	A	G	19: 13,471,362	T131A	probably benign	Het
Olfr64	A	T	7: 103,893,555	F60Y	probably damaging	Het
Olfr66	A	G	7: 103,881,592	V217A	probably benign	Het
Pgm3	T	G	9: 86,556,204	E509D	probably damaging	Het
Phf3	A	T	1: 30,811,942	D1110E	probably damaging	Het
Pkd1	T	G	17: 24,581,569	S3062A	probably benign	Het
Pogz	A	T	3: 94,870,126	K372N	possibly damaging	Het
Pou1f1	A	G	16: 65,523,470	Y15C	probably benign	Het
Ppfia2	A	G	10: 106,896,507	T972A	possibly damaging	Het
Rasip1	A	G	7: 45,635,318	Y703C	possibly damaging	Het
Recql	T	A	6: 142,364,598	Q502L	probably benign	Het
Rgs9	A	T	11: 109,239,499	Y383*	probably null	Het
Rimbp3	T	C	16: 17,212,632	S1307P	probably benign	Het
Rspo1	A	G	4: 125,007,745	T200A	probably damaging	Het
Ryr3	C	T	2: 112,867,292	M922I	probably damaging	Het
Samm50	C	T	15: 84,211,127	A438V	probably damaging	Het
Sec1	A	C	7: 45,678,832	S264A	probably benign	Het
Sec31a	A	T	5: 100,381,336		probably null	Het
Slc13a3	T	C	2: 165,406,699	N553S	unknown	Het
Smg6	T	A	11: 74,946,116	L852Q	probably damaging	Het
Spata13	A	G	14: 60,691,725	N244S	probably damaging	Het
Srbd1	T	C	17: 86,057,685	R648G	probably damaging	Het
Sugct	T	G	13: 17,452,454		probably null	Het
Tmed10	A	G	12: 85,354,879	Y85H	probably damaging	Het
Trim68	A	G	7: 102,684,073	I134T	possibly damaging	Het
Trio	A	G	15: 27,744,038	C2603R	possibly damaging	Het
Tspyl3	G	A	2: 153,225,256	R21W	probably damaging	Het
Ttn	T	C	2: 76,810,699	I11863V	probably null	Het
Ubp1	G	A	9: 113,964,579	A283T	possibly damaging	Het
Ubtf	A	T	11: 102,314,918	F60L	probably damaging	Het
Vmn1r235	T	C	17: 21,261,737	I108T	probably benign	Het
Vmn2r125	T	C	4: 156,351,373	S349P	probably damaging	Het
Vmn2r25	A	G	6: 123,828,465	S478P	probably damaging	Het
Vmn2r88	T	A	14: 51,418,572	V746D	probably damaging	Het
Zcwpw1	A	G	5: 137,796,652	K37E	probably damaging	Het
Zdhhc24	T	C	19: 4,883,766	S284P	probably damaging	Het
Zswim8	C	A	14: 20,716,327	H841N	probably damaging	Het

Other mutations in Cpa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Cpa1	APN	6	30642969	missense	probably benign	0.05
IGL01288:Cpa1	APN	6	30640583	missense	probably damaging	1.00
IGL01402:Cpa1	APN	6	30645276	missense	possibly damaging	0.83
IGL01504:Cpa1	APN	6	30640721	missense	probably benign	0.00
IGL01980:Cpa1	APN	6	30641582	missense	possibly damaging	0.78
IGL02885:Cpa1	APN	6	30645170	missense	probably damaging	1.00
P0026:Cpa1	UTSW	6	30640906	missense	probably damaging	0.96
PIT4544001:Cpa1	UTSW	6	30641858	missense	probably benign	0.00
R0398:Cpa1	UTSW	6	30645251	missense	probably benign	0.00
R0403:Cpa1	UTSW	6	30641857	missense	probably benign	0.15
R1117:Cpa1	UTSW	6	30645261	missense	probably benign	0.16
R1548:Cpa1	UTSW	6	30642335	missense	probably damaging	1.00
R1631:Cpa1	UTSW	6	30640924	missense	probably damaging	1.00
R2202:Cpa1	UTSW	6	30641819	missense	probably damaging	1.00
R2203:Cpa1	UTSW	6	30641819	missense	probably damaging	1.00
R2204:Cpa1	UTSW	6	30641819	missense	probably damaging	1.00
R2205:Cpa1	UTSW	6	30641819	missense	probably damaging	1.00
R4838:Cpa1	UTSW	6	30639516	missense	possibly damaging	0.80
R5497:Cpa1	UTSW	6	30640730	missense	probably benign	0.42
R6306:Cpa1	UTSW	6	30640954	missense	probably damaging	1.00
R7062:Cpa1	UTSW	6	30640677	missense	probably benign	0.03
R7085:Cpa1	UTSW	6	30643620	missense	probably benign	0.10
R7564:Cpa1	UTSW	6	30641768	missense	probably damaging	0.97
R8743:Cpa1	UTSW	6	30642993	missense	probably damaging	1.00
R8785:Cpa1	UTSW	6	30645252	missense	probably benign	0.35
R9535:Cpa1	UTSW	6	30641848	missense	probably damaging	1.00
R9568:Cpa1	UTSW	6	30640061	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTCTTGGGGATGCCTAGCTTACC -3'
(R):5'- ACAGCTTCAGAGTCTAGCCTTGCC -3'

Sequencing Primer
(F):5'- AGGGCTCCATCCAGTTAGTG -3'
(R):5'- TTGGTTGACACAAATCACCCTG -3'

Posted On

2014-05-23