Incidental Mutation 'R1346:Cacng6'
| ID |
156501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cacng6
|
| Ensembl Gene |
ENSMUSG00000078815 |
| Gene Name |
calcium channel, voltage-dependent, gamma subunit 6 |
| Synonyms |
2310033H20Rik |
| MMRRC Submission |
039411-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R1346 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
3472711-3484183 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 3483438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Cysteine
at position 255
(W255C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138622
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108647]
[ENSMUST00000183200]
|
| AlphaFold |
Q8VHW3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108647
AA Change: W209C
PolyPhen 2
Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000104287
Gene: ENSMUSG00000078815
AA Change: W209C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
22 |
N/A |
INTRINSIC |
|
Pfam:Claudin_2
|
47 |
240 |
1.8e-31 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183200
AA Change: W255C
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138622
Gene: ENSMUSG00000078815
AA Change: W255C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
22 |
N/A |
INTRINSIC |
|
Pfam:Claudin_2
|
47 |
240 |
7e-20 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 90.1%
|
| Validation Efficiency |
98% (43/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-dependent calcium channels are composed of five subunits. The protein encoded by this gene represents one of these subunits, gamma, and is one of two known gamma subunit proteins. This particular gamma subunit is an integral membrane protein that is thought to stabilize the calcium channel in an inactive (closed) state. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family and is located in a cluster with two family members that function as transmembrane AMPA receptor regulatory proteins (TARPs). Alternative splicing results in multiple transcript variants. Variants in this gene have been associated with aspirin-intolerant asthma. [provided by RefSeq, Dec 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Gene trapped(4) |
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
C |
A |
14: 32,382,771 (GRCm39) |
A1065S |
probably benign |
Het |
| Ak5 |
G |
T |
3: 152,239,071 (GRCm39) |
D301E |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,259,340 (GRCm39) |
G655S |
possibly damaging |
Het |
| Arap3 |
A |
T |
18: 38,108,971 (GRCm39) |
C1228S |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,958 (GRCm39) |
T1248A |
probably benign |
Het |
| Atf7ip2 |
G |
A |
16: 10,052,195 (GRCm39) |
V225I |
probably damaging |
Het |
| Bdp1 |
G |
A |
13: 100,215,263 (GRCm39) |
Q374* |
probably null |
Het |
| Camta2 |
T |
C |
11: 70,567,293 (GRCm39) |
K628R |
possibly damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,881,759 (GRCm39) |
|
probably null |
Het |
| Cers4 |
A |
G |
8: 4,565,632 (GRCm39) |
E26G |
probably damaging |
Het |
| Chfr |
A |
G |
5: 110,288,313 (GRCm39) |
D76G |
probably damaging |
Het |
| Chrng |
C |
A |
1: 87,135,985 (GRCm39) |
Q245K |
probably benign |
Het |
| Cnn2 |
T |
C |
10: 79,829,414 (GRCm39) |
|
probably benign |
Het |
| Dyrk2 |
T |
C |
10: 118,695,624 (GRCm39) |
K545E |
possibly damaging |
Het |
| Eif3d |
A |
G |
15: 77,852,754 (GRCm39) |
I9T |
probably damaging |
Het |
| Elovl7 |
A |
G |
13: 108,410,883 (GRCm39) |
I153V |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,810,955 (GRCm39) |
S1013P |
possibly damaging |
Het |
| Furin |
C |
T |
7: 80,041,932 (GRCm39) |
|
probably benign |
Het |
| Gart |
G |
T |
16: 91,425,070 (GRCm39) |
|
probably null |
Het |
| Gm572 |
G |
A |
4: 148,739,354 (GRCm39) |
V61M |
possibly damaging |
Het |
| Hspbap1 |
G |
A |
16: 35,622,035 (GRCm39) |
A127T |
probably damaging |
Het |
| Kcnh2 |
T |
C |
5: 24,527,658 (GRCm39) |
D898G |
possibly damaging |
Het |
| Kcnrg |
A |
G |
14: 61,849,144 (GRCm39) |
T202A |
probably benign |
Het |
| Lhx1 |
T |
C |
11: 84,412,905 (GRCm39) |
E36G |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,441,735 (GRCm39) |
N167S |
probably damaging |
Het |
| Parp9 |
A |
T |
16: 35,777,267 (GRCm39) |
M171L |
probably benign |
Het |
| Pla2g4e |
G |
A |
2: 120,013,253 (GRCm39) |
R356W |
probably damaging |
Het |
| Ppp4c |
C |
T |
7: 126,391,222 (GRCm39) |
|
probably benign |
Het |
| Rab3c |
G |
A |
13: 110,397,120 (GRCm39) |
R49C |
probably damaging |
Het |
| Rbm25 |
T |
C |
12: 83,691,167 (GRCm39) |
|
probably benign |
Het |
| Sema4g |
T |
A |
19: 44,986,091 (GRCm39) |
S311T |
possibly damaging |
Het |
| Skida1 |
T |
C |
2: 18,053,090 (GRCm39) |
I21V |
possibly damaging |
Het |
| Slc25a32 |
T |
A |
15: 38,963,411 (GRCm39) |
I137F |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,543,929 (GRCm39) |
V4409A |
probably damaging |
Het |
| Stx2 |
G |
A |
5: 129,065,852 (GRCm39) |
|
probably benign |
Het |
| Timeless |
C |
T |
10: 128,078,234 (GRCm39) |
T248M |
possibly damaging |
Het |
| Tlr2 |
T |
A |
3: 83,743,900 (GRCm39) |
N728Y |
probably damaging |
Het |
| Zfp592 |
A |
T |
7: 80,687,812 (GRCm39) |
N913Y |
possibly damaging |
Het |
|
| Other mutations in Cacng6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
3-1:Cacng6
|
UTSW |
7 |
3,479,029 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0019:Cacng6
|
UTSW |
7 |
3,480,384 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0207:Cacng6
|
UTSW |
7 |
3,473,520 (GRCm39) |
splice site |
probably benign |
|
|
R0558:Cacng6
|
UTSW |
7 |
3,483,324 (GRCm39) |
nonsense |
probably null |
|
|
R0987:Cacng6
|
UTSW |
7 |
3,479,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Cacng6
|
UTSW |
7 |
3,473,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Cacng6
|
UTSW |
7 |
3,473,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Cacng6
|
UTSW |
7 |
3,479,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Cacng6
|
UTSW |
7 |
3,483,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6383:Cacng6
|
UTSW |
7 |
3,473,509 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7935:Cacng6
|
UTSW |
7 |
3,473,384 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8031:Cacng6
|
UTSW |
7 |
3,473,401 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8884:Cacng6
|
UTSW |
7 |
3,478,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9160:Cacng6
|
UTSW |
7 |
3,483,406 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9567:Cacng6
|
UTSW |
7 |
3,483,281 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACTGGAGCTAAGAGCCTCACT -3'
(R):5'- TGAGGGAGGGACCAAGACATTTTGT -3'
Sequencing Primer
(F):5'- AGGTGTTCCGGCATTCC -3'
(R):5'- TGGAAACTGAGACAGGGTTG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation