Incidental Mutation 'R6710:Cela2a'
| ID |
529088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cela2a
|
| Ensembl Gene |
ENSMUSG00000058579 |
| Gene Name |
chymotrypsin-like elastase family, member 2A |
| Synonyms |
Ela2, Ela-2, Ela2a |
| MMRRC Submission |
044828-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.096)
|
| Stock # |
R6710 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
141542265-141553316 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 141549554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 74
(A74S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102481]
|
| AlphaFold |
P05208 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102481
AA Change: A74S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099539
Gene: ENSMUSG00000058579
AA Change: A74S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
30 |
264 |
2.75e-95 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155826
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176781
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a serine protease enzyme that hydrolyzes elastin. This gene is highly expressed in the pancreatic acinar cells where the encoded preproprotein undergoes processing including signal peptide cleavage to generate an inactive zymogen. The removal of N-terminal activation peptide from the zymogen by trypsin generates active elastase enzyme. This gene is also expressed in the mouse epidermis where it participates in pro-filaggrin processing. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
G |
T |
10: 87,061,923 (GRCm39) |
E124D |
probably benign |
Het |
| Aph1c |
T |
C |
9: 66,741,802 (GRCm39) |
T27A |
probably benign |
Het |
| Ash2l |
T |
C |
8: 26,309,740 (GRCm39) |
I507V |
possibly damaging |
Het |
| Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,520,429 (GRCm39) |
D590G |
possibly damaging |
Het |
| Epn1 |
A |
G |
7: 5,100,303 (GRCm39) |
E472G |
probably damaging |
Het |
| Erfe |
A |
G |
1: 91,300,128 (GRCm39) |
D318G |
probably damaging |
Het |
| Ifnar2 |
T |
C |
16: 91,190,771 (GRCm39) |
C227R |
probably damaging |
Het |
| Marchf11 |
A |
G |
15: 26,387,949 (GRCm39) |
Y268C |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,553,366 (GRCm39) |
I4309N |
possibly damaging |
Het |
| Nit2 |
A |
G |
16: 56,980,493 (GRCm39) |
V95A |
possibly damaging |
Het |
| Nup205 |
T |
G |
6: 35,224,308 (GRCm39) |
I2049S |
probably benign |
Het |
| Or2h1 |
T |
G |
17: 37,404,638 (GRCm39) |
I43L |
probably damaging |
Het |
| Or7e175 |
C |
T |
9: 20,049,378 (GRCm39) |
A322V |
probably benign |
Het |
| Pcdhb17 |
T |
C |
18: 37,618,452 (GRCm39) |
S81P |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,284,086 (GRCm39) |
I128V |
probably benign |
Het |
| Sem1 |
C |
A |
6: 6,578,497 (GRCm39) |
E20* |
probably null |
Het |
| Tap1 |
C |
T |
17: 34,407,083 (GRCm39) |
A77V |
possibly damaging |
Het |
| Tmem26 |
T |
C |
10: 68,559,884 (GRCm39) |
L52P |
probably damaging |
Het |
| Utp3 |
T |
C |
5: 88,703,823 (GRCm39) |
Y451H |
probably damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,032,239 (GRCm39) |
I671N |
probably damaging |
Het |
| Zbtb39 |
T |
A |
10: 127,579,505 (GRCm39) |
I693N |
probably damaging |
Het |
| Zfp174 |
A |
G |
16: 3,665,921 (GRCm39) |
E62G |
probably damaging |
Het |
|
| Other mutations in Cela2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03066:Cela2a
|
APN |
4 |
141,548,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0317:Cela2a
|
UTSW |
4 |
141,549,011 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1372:Cela2a
|
UTSW |
4 |
141,546,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Cela2a
|
UTSW |
4 |
141,553,252 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1719:Cela2a
|
UTSW |
4 |
141,545,257 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2155:Cela2a
|
UTSW |
4 |
141,545,350 (GRCm39) |
splice site |
probably null |
|
|
R2323:Cela2a
|
UTSW |
4 |
141,553,390 (GRCm39) |
intron |
probably benign |
|
|
R4705:Cela2a
|
UTSW |
4 |
141,548,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4851:Cela2a
|
UTSW |
4 |
141,552,902 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4880:Cela2a
|
UTSW |
4 |
141,549,598 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5704:Cela2a
|
UTSW |
4 |
141,553,299 (GRCm39) |
intron |
probably benign |
|
|
R5809:Cela2a
|
UTSW |
4 |
141,552,864 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7946:Cela2a
|
UTSW |
4 |
141,549,617 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
RF011:Cela2a
|
UTSW |
4 |
141,549,026 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Cela2a
|
UTSW |
4 |
141,548,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCCACCTATAGATGTGCG -3'
(R):5'- ATGAGGGTTGAGCTAAGTGC -3'
Sequencing Primer
(F):5'- ACCTATAGATGTGCGCCTGC -3'
(R):5'- GTGCTACAATGCAGGCTCACTAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation