Incidental Mutation 'R5939:Gnal'
| ID |
462455 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gnal
|
| Ensembl Gene |
ENSMUSG00000024524 |
| Gene Name |
guanine nucleotide binding protein, alpha stimulating, olfactory type |
| Synonyms |
2610011C15Rik, G alpha 10, Galphaolf, 9630020G10Rik, Gna10, Golf |
| MMRRC Submission |
043243-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.757)
|
| Stock # |
R5939 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
67221369-67359863 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 67324456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 204
(V204M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025402]
[ENSMUST00000076605]
|
| AlphaFold |
Q8CGK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025402
AA Change: V204M
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025402
Gene: ENSMUSG00000024524
AA Change: V204M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
46 |
N/A |
INTRINSIC |
|
G_alpha
|
89 |
447 |
1.18e-172 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076605
AA Change: V137M
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000075908
Gene: ENSMUSG00000024524
AA Change: V137M
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
22 |
380 |
5.02e-176 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a stimulatory G protein alpha subunit which mediates odorant signaling in the olfactory epithelium. This protein couples dopamine type 1 receptors and adenosine A2A receptors and is widely expressed in the central nervous system. Mutations in this gene have been associated with dystonia 25 and this gene is located in a susceptibility region for bipolar disorder and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous for a targeted mutation fail to feed, and ~75% die within 2 days after birth. Rare survivors reach sexual maturity and mate but are hyperactive and anosmic, exhibitng severely reduced odor-evoked electrophysical responses and significantly perturbed maternal behaviors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,404,138 (GRCm39) |
F225I |
probably damaging |
Het |
| Ager |
G |
T |
17: 34,817,175 (GRCm39) |
C38F |
probably damaging |
Het |
| Arel1 |
C |
A |
12: 84,973,066 (GRCm39) |
R577L |
probably damaging |
Het |
| Armh1 |
T |
C |
4: 117,087,119 (GRCm39) |
Y182C |
probably damaging |
Het |
| Cabp2 |
G |
T |
19: 4,136,470 (GRCm39) |
C172F |
possibly damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| D630045J12Rik |
A |
C |
6: 38,171,904 (GRCm39) |
S755A |
possibly damaging |
Het |
| Duox1 |
A |
T |
2: 122,176,832 (GRCm39) |
H1451L |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,037,801 (GRCm39) |
V3359A |
probably damaging |
Het |
| Erlin2 |
T |
C |
8: 27,526,554 (GRCm39) |
F305L |
probably benign |
Het |
| Gm10428 |
A |
C |
11: 62,644,288 (GRCm39) |
|
probably benign |
Het |
| Intu |
T |
C |
3: 40,647,014 (GRCm39) |
V629A |
probably damaging |
Het |
| Lrguk |
G |
T |
6: 34,055,688 (GRCm39) |
C435F |
probably damaging |
Het |
| Man1c1 |
C |
T |
4: 134,293,147 (GRCm39) |
V543M |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,344,195 (GRCm39) |
H1779R |
probably benign |
Het |
| Neb |
T |
C |
2: 52,147,606 (GRCm39) |
T2776A |
probably benign |
Het |
| Nek10 |
A |
T |
14: 14,931,290 (GRCm38) |
Y754F |
possibly damaging |
Het |
| Nr3c1 |
A |
G |
18: 39,553,706 (GRCm39) |
I664T |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,089,010 (GRCm39) |
E849G |
probably damaging |
Het |
| Nrros |
A |
G |
16: 31,962,272 (GRCm39) |
F546L |
probably benign |
Het |
| Or12e8 |
A |
C |
2: 87,188,048 (GRCm39) |
I87L |
possibly damaging |
Het |
| Or5d39 |
T |
C |
2: 87,979,853 (GRCm39) |
Y170C |
probably damaging |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,117 (GRCm39) |
T26A |
probably benign |
Het |
| Penk |
A |
G |
4: 4,138,010 (GRCm39) |
F45S |
probably benign |
Het |
| Pgap4 |
T |
A |
4: 49,586,412 (GRCm39) |
Q252L |
probably damaging |
Het |
| Ppp2r3d |
A |
T |
9: 101,089,824 (GRCm39) |
N166K |
probably benign |
Het |
| Psmb1 |
A |
G |
17: 15,718,440 (GRCm39) |
F29L |
probably damaging |
Het |
| Rab23 |
T |
C |
1: 33,762,990 (GRCm39) |
V20A |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,815,552 (GRCm39) |
A113T |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,805,218 (GRCm39) |
R882K |
probably damaging |
Het |
| Slc6a6 |
A |
G |
6: 91,731,929 (GRCm39) |
N586S |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,368,031 (GRCm39) |
I207V |
probably benign |
Het |
| Spef2 |
G |
A |
15: 9,614,301 (GRCm39) |
T1215I |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,667,073 (GRCm39) |
Y532H |
possibly damaging |
Het |
| Tmc7 |
C |
T |
7: 118,144,950 (GRCm39) |
A537T |
probably benign |
Het |
| Tmem70 |
T |
C |
1: 16,747,615 (GRCm39) |
V243A |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,422,786 (GRCm38) |
Y1408H |
probably damaging |
Het |
| Tpcn1 |
A |
T |
5: 120,677,892 (GRCm39) |
F642I |
probably damaging |
Het |
| Xirp1 |
T |
G |
9: 119,847,575 (GRCm39) |
D436A |
probably benign |
Het |
|
| Other mutations in Gnal |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Gnal
|
APN |
18 |
67,267,360 (GRCm39) |
splice site |
probably null |
|
|
IGL01290:Gnal
|
APN |
18 |
67,344,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02097:Gnal
|
APN |
18 |
67,350,279 (GRCm39) |
splice site |
probably benign |
|
|
IGL02519:Gnal
|
APN |
18 |
67,221,836 (GRCm39) |
missense |
unknown |
|
|
IGL02691:Gnal
|
APN |
18 |
67,355,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0455:Gnal
|
UTSW |
18 |
67,268,720 (GRCm39) |
splice site |
probably benign |
|
|
R0506:Gnal
|
UTSW |
18 |
67,221,744 (GRCm39) |
missense |
unknown |
|
|
R2107:Gnal
|
UTSW |
18 |
67,346,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3937:Gnal
|
UTSW |
18 |
67,268,441 (GRCm39) |
splice site |
probably null |
|
|
R4246:Gnal
|
UTSW |
18 |
67,221,654 (GRCm39) |
missense |
unknown |
|
|
R4247:Gnal
|
UTSW |
18 |
67,221,654 (GRCm39) |
missense |
unknown |
|
|
R4299:Gnal
|
UTSW |
18 |
67,221,654 (GRCm39) |
missense |
unknown |
|
|
R4343:Gnal
|
UTSW |
18 |
67,268,659 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5309:Gnal
|
UTSW |
18 |
67,346,178 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5579:Gnal
|
UTSW |
18 |
67,221,842 (GRCm39) |
missense |
unknown |
|
|
R6277:Gnal
|
UTSW |
18 |
67,346,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7031:Gnal
|
UTSW |
18 |
67,355,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7142:Gnal
|
UTSW |
18 |
67,351,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7343:Gnal
|
UTSW |
18 |
67,268,596 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7366:Gnal
|
UTSW |
18 |
67,344,142 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7806:Gnal
|
UTSW |
18 |
67,346,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8269:Gnal
|
UTSW |
18 |
67,268,693 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8504:Gnal
|
UTSW |
18 |
67,350,255 (GRCm39) |
nonsense |
probably null |
|
|
R9005:Gnal
|
UTSW |
18 |
67,221,830 (GRCm39) |
nonsense |
probably null |
|
|
R9369:Gnal
|
UTSW |
18 |
67,324,439 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1088:Gnal
|
UTSW |
18 |
67,324,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCACCCTGCCTTGTATCATG -3'
(R):5'- AATGTTGCCAAAACCTCCTCTTTAG -3'
Sequencing Primer
(F):5'- GCCTTGTATCATGCTGAATCATG -3'
(R):5'- AGTCAAAGTTACTCTTGATTTCTGC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation