Mutagenetix > Incidental Mutation

Incidental Mutation 'R8140:Cpa2'

632474

Institutional Source

Beutler Lab

Gene Symbol

Cpa2

Ensembl Gene

ENSMUSG00000071553

Gene Name

carboxypeptidase A2, pancreatic

Synonyms

MMRRC Submission

067568-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8140 (G1)

Quality Score

175.009

Status

Validated

Chromosome

Chromosomal Location

30541641-30564475 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30544904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 54 (K54N)

Ref Sequence

ENSEMBL: ENSMUSP00000093771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096066]

AlphaFold

Q504N0

Predicted Effect

probably benign
Transcript: ENSMUST00000096066
AA Change: K54N

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000093771
Gene: ENSMUSG00000071553
AA Change: K54N

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Propep_M14	26	100	3.5e-25	PFAM
Zn_pept	121	400	3.4e-143	SMART

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 member of the carboxypeptidase A family of zinc metalloproteases. The encoded preproprotein undergoes proteolytic processing that removes the N-terminal activation peptide to generate a functional enzyme. This gene is expressed by the pancreatic exocrine cells which secrete the enzyme during digestion. This gene is located in a cluster of carboxypeptidase genes on chromosome 6. [provided by RefSeq, Jul 2016]

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
Cpa6	A	G	1: 10,395,519 (GRCm39)	S383P	probably damaging	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 Cpa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:Cpa2	APN	6	30,564,411 (GRCm39)	missense	probably benign	0.03
IGL01832:Cpa2	APN	6	30,551,998 (GRCm39)	missense	probably benign
IGL02233:Cpa2	APN	6	30,557,666 (GRCm39)	splice site	probably benign
IGL02534:Cpa2	APN	6	30,550,767 (GRCm39)	missense	probably benign	0.20
IGL03057:Cpa2	APN	6	30,557,726 (GRCm39)	missense	probably damaging	1.00
R0931:Cpa2	UTSW	6	30,552,070 (GRCm39)	splice site	probably benign
R1442:Cpa2	UTSW	6	30,544,865 (GRCm39)	splice site	probably null
R1664:Cpa2	UTSW	6	30,554,314 (GRCm39)	missense	probably damaging	0.98
R1752:Cpa2	UTSW	6	30,552,023 (GRCm39)	missense	probably damaging	1.00
R2761:Cpa2	UTSW	6	30,554,193 (GRCm39)	missense	probably damaging	1.00
R4535:Cpa2	UTSW	6	30,552,020 (GRCm39)	missense	probably benign	0.19
R4913:Cpa2	UTSW	6	30,554,292 (GRCm39)	missense	probably damaging	1.00
R5256:Cpa2	UTSW	6	30,547,196 (GRCm39)	missense	probably damaging	0.96
R5461:Cpa2	UTSW	6	30,544,180 (GRCm39)	missense	probably benign	0.03
R5630:Cpa2	UTSW	6	30,550,731 (GRCm39)	splice site	probably null
R6629:Cpa2	UTSW	6	30,554,193 (GRCm39)	missense	probably damaging	0.99
R7368:Cpa2	UTSW	6	30,551,989 (GRCm39)	missense	probably damaging	1.00
R8163:Cpa2	UTSW	6	30,564,350 (GRCm39)	missense	probably damaging	1.00
R8165:Cpa2	UTSW	6	30,564,345 (GRCm39)	missense	probably benign	0.00
R8877:Cpa2	UTSW	6	30,541,692 (GRCm39)	missense	probably damaging	1.00
R9780:Cpa2	UTSW	6	30,545,536 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAATCTCTTGTTGCTGTATCCCAG -3'
(R):5'- ACTGAAGACCCGTGTGGAAC -3'

Sequencing Primer
(F):5'- GCTGTATCCCAGTGGTTCTG -3'
(R):5'- TTTCCTGGCAGAGCAGGAG -3'

Posted On

2020-06-30