Incidental Mutation 'IGL00790:Gnal'
ID 11046
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.757) question?
Stock # IGL00790
Quality Score
Status
Chromosome 18
Chromosomal Location 67221369-67359863 bp(+) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) A to G at 67267360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000075908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025402] [ENSMUST00000076605]
AlphaFold Q8CGK7
Predicted Effect probably null
Transcript: ENSMUST00000025402
SMART Domains Protein: ENSMUSP00000025402
Gene: ENSMUSG00000024524

DomainStartEndE-ValueType
low complexity region 32 46 N/A INTRINSIC
G_alpha 89 447 1.18e-172 SMART
Predicted Effect probably null
Transcript: ENSMUST00000076605
SMART Domains Protein: ENSMUSP00000075908
Gene: ENSMUSG00000024524

DomainStartEndE-ValueType
G_alpha 22 380 5.02e-176 SMART
Coding Region Coverage
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd12 A T 17: 66,291,175 (GRCm39) N1419K probably benign Het
Arhgef18 A G 8: 3,479,553 (GRCm39) E79G probably damaging Het
Art4 T A 6: 136,831,493 (GRCm39) Q216L probably damaging Het
Bbs4 T C 9: 59,231,348 (GRCm39) D407G probably benign Het
Cherp A G 8: 73,222,090 (GRCm39) I277T probably damaging Het
Cnot2 A G 10: 116,342,976 (GRCm39) M119T probably benign Het
Disp2 T A 2: 118,616,759 (GRCm39) C73S probably damaging Het
Dock4 T C 12: 40,884,390 (GRCm39) S1686P probably damaging Het
Dsc1 C T 18: 20,227,953 (GRCm39) G468S probably damaging Het
Duox2 T A 2: 122,122,781 (GRCm39) D551V possibly damaging Het
Gmip T A 8: 70,269,661 (GRCm39) Y585* probably null Het
Idh1 T G 1: 65,205,281 (GRCm39) Q228P possibly damaging Het
Igsf10 A T 3: 59,226,938 (GRCm39) I2245N probably damaging Het
Mrgpra4 A T 7: 47,631,052 (GRCm39) M183K possibly damaging Het
Npr2 T A 4: 43,641,612 (GRCm39) V472D possibly damaging Het
Pcdh7 A T 5: 57,878,806 (GRCm39) N787I probably damaging Het
Phf8-ps A G 17: 33,286,361 (GRCm39) V147A probably damaging Het
Ppp1r10 A T 17: 36,235,751 (GRCm39) N111I probably damaging Het
Ppp3ca A G 3: 136,640,942 (GRCm39) N508D probably benign Het
Rgs17 A G 10: 5,862,624 (GRCm38) Q25P possibly damaging Het
Slco6d1 T A 1: 98,348,925 (GRCm39) probably benign Het
Tab3 T A X: 84,665,210 (GRCm39) N591K probably damaging Het
Tfcp2 T C 15: 100,411,059 (GRCm39) probably benign Het
Them5 A T 3: 94,250,716 (GRCm39) D93V probably damaging Het
Thoc5 T G 11: 4,868,147 (GRCm39) V275G probably damaging Het
Trmt1l T C 1: 151,318,463 (GRCm39) probably null Het
Zdbf2 G T 1: 63,345,673 (GRCm39) V1351F possibly damaging Het
Zfp14 G T 7: 29,738,312 (GRCm39) Y224* probably null Het
Zfp606 T G 7: 12,228,159 (GRCm39) M702R probably damaging Het
Other mutations in Gnal
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-12-06