Incidental Mutation 'R1292:Cma2'
| ID |
150826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cma2
|
| Ensembl Gene |
ENSMUSG00000068289 |
| Gene Name |
chymase 2, mast cell |
| Synonyms |
|
| MMRRC Submission |
039358-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R1292 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
56188437-56211488 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 56211199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 164
(R164C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089555]
[ENSMUST00000228263]
|
| AlphaFold |
Q91VB1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089555
AA Change: R220C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000086984
Gene: ENSMUSG00000068289
AA Change: R220C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
20 |
239 |
7.12e-80 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228263
AA Change: R164C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
97% (31/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
T |
A |
9: 53,336,919 (GRCm39) |
D74E |
probably benign |
Het |
| Abcb1a |
A |
T |
5: 8,763,343 (GRCm39) |
T624S |
probably benign |
Het |
| Atp8b1 |
T |
C |
18: 64,704,092 (GRCm39) |
Y342C |
probably damaging |
Het |
| Clcnka |
A |
G |
4: 141,122,903 (GRCm39) |
|
probably benign |
Het |
| Cnga1 |
T |
C |
5: 72,762,026 (GRCm39) |
D496G |
probably damaging |
Het |
| Ctbp2 |
T |
A |
7: 132,616,918 (GRCm39) |
R6W |
probably damaging |
Het |
| Cyp3a11 |
T |
C |
5: 145,802,804 (GRCm39) |
T230A |
probably benign |
Het |
| Defb40 |
A |
C |
8: 19,028,080 (GRCm39) |
I18S |
probably benign |
Het |
| Fcgbpl1 |
A |
C |
7: 27,842,219 (GRCm39) |
|
probably benign |
Het |
| Gm10036 |
T |
G |
18: 15,966,368 (GRCm39) |
I173S |
possibly damaging |
Het |
| Herc2 |
A |
T |
7: 55,846,951 (GRCm39) |
I3634L |
probably benign |
Het |
| Igfbp1 |
A |
G |
11: 7,150,863 (GRCm39) |
N218S |
probably damaging |
Het |
| Jag1 |
C |
G |
2: 136,925,393 (GRCm39) |
V1070L |
possibly damaging |
Het |
| Kmt2a |
A |
T |
9: 44,725,991 (GRCm39) |
|
probably benign |
Het |
| Ly9 |
T |
C |
1: 171,416,671 (GRCm39) |
|
probably null |
Het |
| Mmut |
C |
A |
17: 41,252,298 (GRCm39) |
A280E |
probably damaging |
Het |
| Or5k16 |
C |
T |
16: 58,736,134 (GRCm39) |
R290K |
probably damaging |
Het |
| Or6k6 |
A |
G |
1: 173,945,420 (GRCm39) |
F54S |
probably benign |
Het |
| Pcdhb13 |
T |
C |
18: 37,576,885 (GRCm39) |
V421A |
probably benign |
Het |
| Pik3ca |
T |
A |
3: 32,508,569 (GRCm39) |
L779Q |
probably damaging |
Het |
| Plxnd1 |
T |
C |
6: 115,939,644 (GRCm39) |
|
probably benign |
Het |
| Prss16 |
T |
A |
13: 22,193,691 (GRCm39) |
K35* |
probably null |
Het |
| Rhbdl2 |
G |
A |
4: 123,723,435 (GRCm39) |
A280T |
possibly damaging |
Het |
| Slc2a2 |
C |
T |
3: 28,771,637 (GRCm39) |
T189I |
probably damaging |
Het |
| Srsf6 |
C |
T |
2: 162,776,403 (GRCm39) |
|
probably benign |
Het |
| Tacr1 |
A |
G |
6: 82,531,856 (GRCm39) |
I251V |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,534,578 (GRCm39) |
|
probably null |
Het |
| Vdac3-ps1 |
T |
C |
13: 18,205,880 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp458 |
A |
T |
13: 67,404,754 (GRCm39) |
C562S |
probably damaging |
Het |
|
| Other mutations in Cma2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01870:Cma2
|
APN |
14 |
56,211,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03139:Cma2
|
APN |
14 |
56,211,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0411:Cma2
|
UTSW |
14 |
56,211,135 (GRCm39) |
splice site |
probably benign |
|
|
R0545:Cma2
|
UTSW |
14 |
56,210,570 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0558:Cma2
|
UTSW |
14 |
56,210,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1187:Cma2
|
UTSW |
14 |
56,210,280 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1371:Cma2
|
UTSW |
14 |
56,210,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1575:Cma2
|
UTSW |
14 |
56,210,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1662:Cma2
|
UTSW |
14 |
56,210,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5198:Cma2
|
UTSW |
14 |
56,209,532 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5601:Cma2
|
UTSW |
14 |
56,211,246 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6222:Cma2
|
UTSW |
14 |
56,210,649 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6505:Cma2
|
UTSW |
14 |
56,211,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Cma2
|
UTSW |
14 |
56,210,505 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8222:Cma2
|
UTSW |
14 |
56,210,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8860:Cma2
|
UTSW |
14 |
56,210,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8997:Cma2
|
UTSW |
14 |
56,210,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9429:Cma2
|
UTSW |
14 |
56,210,276 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9548:Cma2
|
UTSW |
14 |
56,211,256 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGAGCCTGGAACCCTTACTAC -3'
(R):5'- CTGAGGTGCATTACAGGGAACAGTC -3'
Sequencing Primer
(F):5'- TGGGGGAATGTGATCTATGCTC -3'
(R):5'- tggggacagactggggg -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation