Incidental Mutation 'R5824:Cma1'
| ID |
450084 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cma1
|
| Ensembl Gene |
ENSMUSG00000022225 |
| Gene Name |
chymase 1, mast cell |
| Synonyms |
Mcp-5, Mcpt5, Mcp5, MMCP-5 |
| MMRRC Submission |
043216-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R5824 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
56178908-56182132 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56179182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 238
(K238E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022834]
[ENSMUST00000226280]
|
| AlphaFold |
P21844 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022834
AA Change: K238E
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022834
Gene: ENSMUSG00000022225
AA Change: K238E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
34 |
253 |
4.85e-73 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226280
AA Change: K225E
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227704
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a serine protease that belongs to the peptidase family S1. It is expressed in mast cells and is thought to function in the degradation of the extracellular matrix, the regulation of submucosal gland secretion, and the generation of vasoactive peptides. The encoded preproprotein undergoes proteolytic processing to generate a functional enzyme with elastase-like activity. Mice lacking the encoded protein exhibit significant attenuation of ischemia-reperfusion injury of the skeletal muscle. This gene is located in a cluster of related mast cell protease genes on chromosome 14. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a knock-out allele display a reduction in mast cell-mediated ischemia reperfusion injury of skeletal muscle. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtpbp1 |
A |
T |
13: 59,613,913 (GRCm39) |
H66Q |
probably damaging |
Het |
| Ap1g1 |
T |
A |
8: 110,565,544 (GRCm39) |
|
probably null |
Het |
| Ap4b1 |
A |
T |
3: 103,720,701 (GRCm39) |
I124F |
probably benign |
Het |
| Arhgap10 |
A |
T |
8: 78,085,181 (GRCm39) |
Y462* |
probably null |
Het |
| Btnl10 |
G |
T |
11: 58,814,266 (GRCm39) |
M315I |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,236,952 (GRCm39) |
V1994A |
possibly damaging |
Het |
| Cherp |
G |
A |
8: 73,216,102 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
G |
A |
2: 91,389,481 (GRCm39) |
A318T |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,505,154 (GRCm39) |
H2094Q |
probably damaging |
Het |
| Ctif |
T |
C |
18: 75,743,749 (GRCm39) |
D141G |
possibly damaging |
Het |
| Ctnna1 |
T |
C |
18: 35,312,939 (GRCm39) |
S264P |
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,492,475 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
G |
15: 28,313,967 (GRCm39) |
T1928A |
probably benign |
Het |
| Etfdh |
G |
A |
3: 79,517,252 (GRCm39) |
P379L |
probably damaging |
Het |
| Gfra3 |
T |
C |
18: 34,844,264 (GRCm39) |
N92S |
probably damaging |
Het |
| Gpr161 |
C |
A |
1: 165,138,560 (GRCm39) |
T382K |
possibly damaging |
Het |
| Gspt2 |
T |
C |
X: 93,680,071 (GRCm39) |
V70A |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,868,774 (GRCm39) |
V10A |
probably benign |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Kpna1 |
A |
G |
16: 35,840,575 (GRCm39) |
D205G |
possibly damaging |
Het |
| Man2a2 |
T |
G |
7: 80,002,780 (GRCm39) |
D1067A |
probably benign |
Het |
| Map3k4 |
G |
A |
17: 12,448,526 (GRCm39) |
H1551Y |
probably damaging |
Het |
| Moxd1 |
A |
T |
10: 24,162,995 (GRCm39) |
I486F |
probably damaging |
Het |
| Notch3 |
G |
T |
17: 32,372,835 (GRCm39) |
R579S |
possibly damaging |
Het |
| Or2r3 |
C |
A |
6: 42,448,906 (GRCm39) |
V69L |
probably benign |
Het |
| Or6c65 |
T |
C |
10: 129,604,250 (GRCm39) |
V295A |
probably damaging |
Het |
| Or8b4 |
A |
G |
9: 37,830,861 (GRCm39) |
T308A |
probably benign |
Het |
| Pira13 |
T |
C |
7: 3,827,753 (GRCm39) |
T135A |
probably damaging |
Het |
| Recql4 |
C |
T |
15: 76,592,785 (GRCm39) |
C302Y |
probably damaging |
Het |
| Reg3b |
G |
A |
6: 78,349,104 (GRCm39) |
V77I |
possibly damaging |
Het |
| Terb1 |
T |
C |
8: 105,212,079 (GRCm39) |
T301A |
probably benign |
Het |
| Tmem260 |
G |
A |
14: 48,742,785 (GRCm39) |
C540Y |
probably damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,831,201 (GRCm39) |
F385I |
probably damaging |
Het |
| Trbv12-2 |
G |
A |
6: 41,095,774 (GRCm39) |
|
probably benign |
Het |
| Upk3bl |
T |
A |
5: 136,089,133 (GRCm39) |
Y196* |
probably null |
Het |
| Vmn1r199 |
A |
T |
13: 22,567,748 (GRCm39) |
K304N |
probably benign |
Het |
|
| Other mutations in Cma1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01070:Cma1
|
APN |
14 |
56,180,154 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02797:Cma1
|
APN |
14 |
56,181,271 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0026:Cma1
|
UTSW |
14 |
56,179,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2029:Cma1
|
UTSW |
14 |
56,181,191 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2060:Cma1
|
UTSW |
14 |
56,181,155 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4994:Cma1
|
UTSW |
14 |
56,179,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5275:Cma1
|
UTSW |
14 |
56,179,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5794:Cma1
|
UTSW |
14 |
56,181,977 (GRCm39) |
missense |
probably benign |
|
|
R5955:Cma1
|
UTSW |
14 |
56,181,226 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5958:Cma1
|
UTSW |
14 |
56,179,113 (GRCm39) |
makesense |
probably null |
|
|
R6075:Cma1
|
UTSW |
14 |
56,179,771 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6139:Cma1
|
UTSW |
14 |
56,180,157 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7088:Cma1
|
UTSW |
14 |
56,181,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7139:Cma1
|
UTSW |
14 |
56,181,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7220:Cma1
|
UTSW |
14 |
56,180,120 (GRCm39) |
missense |
probably benign |
|
|
R7988:Cma1
|
UTSW |
14 |
56,181,989 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9171:Cma1
|
UTSW |
14 |
56,181,189 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9627:Cma1
|
UTSW |
14 |
56,181,289 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9803:Cma1
|
UTSW |
14 |
56,179,186 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGTGACTTGTAAGAACCTTCTG -3'
(R):5'- CCAAGGCAATGATGTGGCATC -3'
Sequencing Primer
(F):5'- GACTTGTAAGAACCTTCTGGAAGCTC -3'
(R):5'- ATGTGGCATCAGGCTCTAGAC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation