Incidental Mutation 'R7031:Gnal'
| ID |
546349 |
| 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 |
045132-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.755)
|
| Stock # |
R7031 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
67221369-67359863 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 67355659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 340
(G340D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025402]
[ENSMUST00000073054]
[ENSMUST00000076605]
|
| AlphaFold |
Q8CGK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025402
AA Change: G407D
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025402
Gene: ENSMUSG00000024524
AA Change: G407D
| 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: ENSMUST00000073054
|
| SMART Domains |
Protein: ENSMUSP00000072808
Gene: ENSMUSG00000062526
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:Metallophos
|
68 |
308 |
3.3e-13 |
PFAM |
|
transmembrane domain
|
358 |
380 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076605
AA Change: G340D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000075908
Gene: ENSMUSG00000024524
AA Change: G340D
| Domain | Start | End | E-Value | Type |
|---|
|
G_alpha
|
22 |
380 |
5.02e-176 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,833,058 (GRCm39) |
N39S |
probably benign |
Het |
| Abca13 |
C |
T |
11: 9,571,892 (GRCm39) |
R4818C |
probably damaging |
Het |
| Acadsb |
A |
G |
7: 131,045,366 (GRCm39) |
I433V |
probably benign |
Het |
| Acsl3 |
T |
A |
1: 78,666,000 (GRCm39) |
I142N |
probably benign |
Het |
| Api5 |
G |
A |
2: 94,255,961 (GRCm39) |
T242M |
probably benign |
Het |
| Brme1 |
C |
A |
8: 84,893,313 (GRCm39) |
P160Q |
possibly damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,911,323 (GRCm39) |
E37G |
probably damaging |
Het |
| Cfap96 |
T |
C |
8: 46,421,140 (GRCm39) |
I128V |
probably benign |
Het |
| Cntnap4 |
C |
A |
8: 113,584,874 (GRCm39) |
Q1104K |
probably benign |
Het |
| Cry1 |
A |
G |
10: 84,984,526 (GRCm39) |
S183P |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,910,580 (GRCm39) |
F572I |
probably benign |
Het |
| Dcbld1 |
A |
T |
10: 52,166,985 (GRCm39) |
D104V |
probably damaging |
Het |
| Dhh |
C |
T |
15: 98,791,907 (GRCm39) |
G367E |
possibly damaging |
Het |
| Dhx15 |
T |
C |
5: 52,341,931 (GRCm39) |
D129G |
probably benign |
Het |
| Drd3 |
T |
A |
16: 43,582,861 (GRCm39) |
V86E |
probably damaging |
Het |
| Ebf1 |
A |
G |
11: 44,512,795 (GRCm39) |
T135A |
possibly damaging |
Het |
| Epha5 |
T |
C |
5: 84,290,159 (GRCm39) |
I428V |
probably benign |
Het |
| Epx |
T |
A |
11: 87,766,349 (GRCm39) |
|
probably benign |
Het |
| Fam83d |
T |
A |
2: 158,627,227 (GRCm39) |
N305K |
probably benign |
Het |
| Gchfr |
T |
A |
2: 119,000,236 (GRCm39) |
V39D |
probably benign |
Het |
| Ggnbp2 |
A |
G |
11: 84,751,467 (GRCm39) |
L111P |
probably damaging |
Het |
| Gpat2 |
A |
G |
2: 127,277,395 (GRCm39) |
E745G |
probably damaging |
Het |
| Gpbp1l1 |
C |
T |
4: 116,450,045 (GRCm39) |
R438C |
probably damaging |
Het |
| Hmgxb4 |
C |
T |
8: 75,756,200 (GRCm39) |
Q171* |
probably null |
Het |
| Igkv4-91 |
G |
T |
6: 68,745,542 (GRCm39) |
R119S |
possibly damaging |
Het |
| Ing2 |
T |
C |
8: 48,121,858 (GRCm39) |
D230G |
probably benign |
Het |
| Itfg2 |
A |
G |
6: 128,393,017 (GRCm39) |
V82A |
probably damaging |
Het |
| Klhl22 |
T |
C |
16: 17,594,890 (GRCm39) |
S340P |
probably damaging |
Het |
| Lipm |
A |
T |
19: 34,093,871 (GRCm39) |
M263L |
probably benign |
Het |
| Ly96 |
A |
T |
1: 16,758,787 (GRCm39) |
E19V |
possibly damaging |
Het |
| Mark1 |
C |
T |
1: 184,644,829 (GRCm39) |
E376K |
possibly damaging |
Het |
| Mlip |
T |
A |
9: 77,045,835 (GRCm39) |
M375L |
probably benign |
Het |
| Mug1 |
A |
T |
6: 121,815,673 (GRCm39) |
N26Y |
probably benign |
Het |
| Or2ad1 |
C |
T |
13: 21,327,170 (GRCm39) |
S19N |
probably benign |
Het |
| Or55b3 |
T |
A |
7: 102,127,057 (GRCm39) |
T7S |
probably benign |
Het |
| Or5m3 |
C |
T |
2: 85,838,939 (GRCm39) |
A273V |
probably benign |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,308,690 (GRCm39) |
|
probably null |
Het |
| Rgs4 |
T |
C |
1: 169,571,336 (GRCm39) |
T178A |
probably benign |
Het |
| Sel1l2 |
T |
A |
2: 140,182,043 (GRCm39) |
K31N |
possibly damaging |
Het |
| Serpinf1 |
T |
C |
11: 75,301,022 (GRCm39) |
R398G |
probably damaging |
Het |
| Sgo2b |
C |
T |
8: 64,393,078 (GRCm39) |
E120K |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,530,931 (GRCm39) |
F2396S |
possibly damaging |
Het |
| Trgv6 |
G |
A |
13: 19,374,610 (GRCm39) |
E25K |
probably benign |
Het |
| Trpc3 |
A |
C |
3: 36,675,459 (GRCm39) |
I893S |
probably benign |
Het |
| Trpc4ap |
C |
A |
2: 155,534,135 (GRCm39) |
R31L |
unknown |
Het |
| Vat1l |
A |
G |
8: 114,998,172 (GRCm39) |
R239G |
possibly damaging |
Het |
| Vmn1r56 |
T |
A |
7: 5,199,261 (GRCm39) |
R119* |
probably null |
Het |
| Vmn2r111 |
T |
C |
17: 22,790,226 (GRCm39) |
Y260C |
probably damaging |
Het |
| Zfp664 |
A |
G |
5: 124,963,070 (GRCm39) |
T155A |
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 |
|
|
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 |
|
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'- AAGCATGCCTGTCCTGTTAC -3'
(R):5'- AGATATGCTGCCTCATGGGG -3'
Sequencing Primer
(F):5'- CCTGTTACAGGCTTGCTATCTAGAG -3'
(R):5'- CTCATGGGGTGGCCAAGAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation