Incidental Mutation 'R4535:Cpa2'
ID |
333282 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cpa2
|
Ensembl Gene |
ENSMUSG00000071553 |
Gene Name |
carboxypeptidase A2, pancreatic |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4535 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
30541641-30564475 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30552020 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 249
(V249A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093771
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096066]
|
AlphaFold |
Q504N0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096066
AA Change: V249A
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000093771 Gene: ENSMUSG00000071553 AA Change: V249A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123588
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126426
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131137
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144282
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146936
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef4 |
T |
C |
1: 34,762,162 (GRCm39) |
S473P |
unknown |
Het |
Azin1 |
A |
T |
15: 38,493,849 (GRCm39) |
I258N |
probably benign |
Het |
Bod1l |
G |
A |
5: 41,989,574 (GRCm39) |
A383V |
probably benign |
Het |
Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
Cd200r3 |
T |
A |
16: 44,774,552 (GRCm39) |
D188E |
probably benign |
Het |
Cd4 |
A |
T |
6: 124,847,414 (GRCm39) |
F250Y |
probably benign |
Het |
Clcn4 |
T |
A |
7: 7,290,813 (GRCm39) |
Y662F |
probably benign |
Het |
Depdc5 |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 33,067,751 (GRCm39) |
|
probably benign |
Het |
Dhx57 |
A |
G |
17: 80,582,511 (GRCm39) |
Y365H |
probably damaging |
Het |
Dsg1c |
A |
G |
18: 20,408,322 (GRCm39) |
E457G |
probably benign |
Het |
Eef2k |
T |
A |
7: 120,457,822 (GRCm39) |
Y60* |
probably null |
Het |
Efcc1 |
A |
G |
6: 87,730,133 (GRCm39) |
D482G |
probably null |
Het |
Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
Fam178b |
A |
T |
1: 36,639,606 (GRCm39) |
D293E |
probably benign |
Het |
Fbxl21 |
G |
A |
13: 56,674,873 (GRCm39) |
V49I |
probably damaging |
Het |
Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
H2-M10.4 |
T |
C |
17: 36,772,736 (GRCm39) |
E82G |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,439,531 (GRCm39) |
I5434T |
probably damaging |
Het |
Hormad1 |
T |
C |
3: 95,492,452 (GRCm39) |
V343A |
probably benign |
Het |
Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
Iqsec3 |
T |
C |
6: 121,356,977 (GRCm39) |
K1035E |
possibly damaging |
Het |
Ltn1 |
A |
T |
16: 87,223,174 (GRCm39) |
V102D |
probably damaging |
Het |
Mcur1 |
T |
C |
13: 43,698,016 (GRCm39) |
T295A |
probably damaging |
Het |
Pals1 |
A |
T |
12: 78,871,611 (GRCm39) |
D397V |
possibly damaging |
Het |
Pcdha3 |
T |
C |
18: 37,081,013 (GRCm39) |
V585A |
probably damaging |
Het |
Plcd4 |
A |
G |
1: 74,602,627 (GRCm39) |
T594A |
probably damaging |
Het |
Ppp1r3c |
T |
C |
19: 36,711,522 (GRCm39) |
K83E |
probably damaging |
Het |
Sesn3 |
C |
A |
9: 14,233,954 (GRCm39) |
T309K |
probably benign |
Het |
Slc38a3 |
T |
C |
9: 107,533,405 (GRCm39) |
N251S |
probably benign |
Het |
Sptbn4 |
A |
G |
7: 27,067,127 (GRCm39) |
V614A |
probably damaging |
Het |
Srsf4 |
A |
G |
4: 131,601,175 (GRCm39) |
K34R |
probably damaging |
Het |
Tfpi2 |
T |
C |
6: 3,968,044 (GRCm39) |
N32S |
possibly damaging |
Het |
Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
Utp3 |
T |
C |
5: 88,703,458 (GRCm39) |
V329A |
probably benign |
Het |
Vmn2r102 |
A |
G |
17: 19,914,975 (GRCm39) |
T847A |
probably benign |
Het |
Vmn2r70 |
A |
T |
7: 85,214,541 (GRCm39) |
W204R |
probably damaging |
Het |
Xrcc3 |
A |
G |
12: 111,770,966 (GRCm39) |
L321P |
probably 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 |
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 |
R8140:Cpa2
|
UTSW |
6 |
30,544,904 (GRCm39) |
missense |
probably benign |
0.10 |
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'- ATAGCGCACAGTTCTGAAGGG -3'
(R):5'- CAGTTAAATGCTGCCTGGGG -3'
Sequencing Primer
(F):5'- CACAGTTCTGAAGGGAGGGAAC -3'
(R):5'- AATTTAGTGATGTGTTTCAAAGAGGG -3'
|
Posted On |
2015-08-18 |