Incidental Mutation 'R4246:Gnal'
| ID |
320446 |
| 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 |
041062-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.755)
|
| Stock # |
R4246 (G1)
|
| Quality Score |
122 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
67221369-67359863 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 67221654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Arginine
at position 19
(P19R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025402
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025402]
|
| AlphaFold |
Q8CGK7 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000025402
AA Change: P19R
|
| SMART Domains |
Protein: ENSMUSP00000025402
Gene: ENSMUSG00000024524
AA Change: P19R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
46 |
N/A |
INTRINSIC |
|
G_alpha
|
89 |
447 |
1.18e-172 |
SMART |
|
| Meta Mutation Damage Score |
0.0804 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,606,013 (GRCm39) |
N36S |
possibly damaging |
Het |
| Ak1 |
A |
G |
2: 32,523,384 (GRCm39) |
T151A |
possibly damaging |
Het |
| Asxl3 |
A |
G |
18: 22,658,557 (GRCm39) |
D2189G |
probably damaging |
Het |
| Ccdc91 |
C |
T |
6: 147,493,646 (GRCm39) |
A346V |
unknown |
Het |
| Dnah6 |
C |
T |
6: 73,106,431 (GRCm39) |
E1769K |
probably benign |
Het |
| Dock6 |
A |
T |
9: 21,750,786 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
A |
G |
18: 25,123,123 (GRCm39) |
K271R |
probably null |
Het |
| Glyatl3 |
T |
A |
17: 41,220,989 (GRCm39) |
D126V |
probably benign |
Het |
| Igkv8-21 |
T |
A |
6: 70,292,436 (GRCm39) |
M1L |
possibly damaging |
Het |
| Itih4 |
C |
A |
14: 30,613,359 (GRCm39) |
H261N |
probably damaging |
Het |
| Jpt1 |
T |
C |
11: 115,405,119 (GRCm39) |
|
probably benign |
Het |
| Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
| Klhl32 |
A |
C |
4: 24,800,822 (GRCm39) |
S3A |
possibly damaging |
Het |
| Kmt2d |
C |
T |
15: 98,737,970 (GRCm39) |
|
probably benign |
Het |
| Lamtor5 |
T |
C |
3: 107,186,354 (GRCm39) |
V41A |
probably benign |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Lrfn1 |
G |
T |
7: 28,159,367 (GRCm39) |
V429L |
probably benign |
Het |
| Mapkbp1 |
T |
A |
2: 119,843,508 (GRCm39) |
I252N |
probably damaging |
Het |
| Nelfa |
A |
G |
5: 34,056,373 (GRCm39) |
F464S |
probably damaging |
Het |
| Nipbl |
G |
A |
15: 8,361,916 (GRCm39) |
L1454F |
probably damaging |
Het |
| Nr4a3 |
C |
T |
4: 48,083,125 (GRCm39) |
P553S |
possibly damaging |
Het |
| Nrg3 |
G |
A |
14: 39,194,198 (GRCm39) |
T187I |
possibly damaging |
Het |
| Or5m5 |
T |
A |
2: 85,814,624 (GRCm39) |
C147S |
possibly damaging |
Het |
| Or8g36 |
A |
G |
9: 39,422,899 (GRCm39) |
V39A |
probably benign |
Het |
| Pcdha8 |
A |
G |
18: 37,125,950 (GRCm39) |
E144G |
probably damaging |
Het |
| Pik3cb |
T |
C |
9: 98,983,229 (GRCm39) |
|
probably null |
Het |
| Pira1 |
C |
T |
7: 3,740,348 (GRCm39) |
G291E |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Ppp1r3a |
T |
A |
6: 14,719,780 (GRCm39) |
E378V |
probably damaging |
Het |
| Psd2 |
T |
C |
18: 36,139,172 (GRCm39) |
L540P |
probably damaging |
Het |
| Rnf14 |
T |
A |
18: 38,434,701 (GRCm39) |
|
probably null |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3d19 |
G |
A |
3: 86,033,995 (GRCm39) |
V783I |
probably benign |
Het |
| Snca |
T |
C |
6: 60,710,149 (GRCm39) |
E110G |
possibly damaging |
Het |
| Sumf1 |
A |
C |
6: 108,131,974 (GRCm39) |
V156G |
probably damaging |
Het |
| Trhr |
A |
T |
15: 44,096,856 (GRCm39) |
|
probably null |
Het |
| Tsen2 |
A |
G |
6: 115,524,785 (GRCm39) |
|
probably benign |
Het |
| Tuft1 |
C |
A |
3: 94,522,108 (GRCm39) |
M319I |
probably benign |
Het |
| Vill |
C |
A |
9: 118,889,461 (GRCm39) |
N132K |
probably damaging |
Het |
| Wars2 |
T |
A |
3: 99,123,904 (GRCm39) |
V255E |
probably damaging |
Het |
| Zcchc14 |
CTGATGGTGGTGGTGATGGTGGTGG |
CTGATGGTGGTGG |
8: 122,331,031 (GRCm39) |
|
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 |
|
|
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 |
|
|
R5939:Gnal
|
UTSW |
18 |
67,324,456 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- AAGGATGCACAATGGCCCTTC -3'
(R):5'- ACATTCTCCAAGGCAGGGTC -3'
Sequencing Primer
(F):5'- CCTTCGGGGCAGTGAGG -3'
(R):5'- GTGCAGACCTACCCAGCAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation