Incidental Mutation 'IGL00790:Gnal'
ID11046
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gnal
Ensembl Gene ENSMUSG00000024524
Gene Nameguanine nucleotide binding protein, alpha stimulating, olfactory type
SynonymsGna10, 9630020G10Rik, Galphaolf, 2610011C15Rik, Golf, G alpha 10
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.822) question?
Stock #IGL00790
Quality Score
Status
Chromosome18
Chromosomal Location67088336-67226792 bp(+) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) A to G at 67134289 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000075908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025402] [ENSMUST00000076605]
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
4921501E09Rik A G 17: 33,067,387 V147A probably damaging Het
AC139131.1 T G 7: 12,494,232 M702R probably damaging Het
Ankrd12 A T 17: 65,984,180 N1419K probably benign Het
Arhgef18 A G 8: 3,429,553 E79G probably damaging Het
Art4 T A 6: 136,854,495 Q216L probably damaging Het
Bbs4 T C 9: 59,324,065 D407G probably benign Het
Cherp A G 8: 72,468,246 I277T probably damaging Het
Cnot2 A G 10: 116,507,071 M119T probably benign Het
Disp2 T A 2: 118,786,278 C73S probably damaging Het
Dock4 T C 12: 40,834,391 S1686P probably damaging Het
Dsc1 C T 18: 20,094,896 G468S probably damaging Het
Duox2 T A 2: 122,292,300 D551V possibly damaging Het
Gmip T A 8: 69,817,011 Y585* probably null Het
Idh1 T G 1: 65,166,122 Q228P possibly damaging Het
Igsf10 A T 3: 59,319,517 I2245N probably damaging Het
Mrgpra4 A T 7: 47,981,304 M183K possibly damaging Het
Npr2 T A 4: 43,641,612 V472D possibly damaging Het
Pcdh7 A T 5: 57,721,464 N787I probably damaging Het
Ppp1r10 A T 17: 35,924,859 N111I probably damaging Het
Ppp3ca A G 3: 136,935,181 N508D probably benign Het
Rgs17 A G 10: 5,862,624 Q25P possibly damaging Het
Slco6d1 T A 1: 98,421,200 probably benign Het
Tab3 T A X: 85,621,604 N591K probably damaging Het
Tfcp2 T C 15: 100,513,178 probably benign Het
Them5 A T 3: 94,343,409 D93V probably damaging Het
Thoc5 T G 11: 4,918,147 V275G probably damaging Het
Trmt1l T C 1: 151,442,712 probably null Het
Zdbf2 G T 1: 63,306,514 V1351F possibly damaging Het
Zfp14 G T 7: 30,038,887 Y224* probably null Het
Other mutations in Gnal
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01290:Gnal APN 18 67211098 missense probably damaging 1.00
IGL02097:Gnal APN 18 67217208 splice site probably benign
IGL02519:Gnal APN 18 67088765 missense unknown
IGL02691:Gnal APN 18 67222675 missense probably damaging 1.00
R0455:Gnal UTSW 18 67135649 splice site probably benign
R0506:Gnal UTSW 18 67088673 missense unknown
R2107:Gnal UTSW 18 67213578 missense probably damaging 1.00
R3937:Gnal UTSW 18 67135370 splice site probably null
R4246:Gnal UTSW 18 67088583 missense unknown
R4247:Gnal UTSW 18 67088583 missense unknown
R4299:Gnal UTSW 18 67088583 missense unknown
R4343:Gnal UTSW 18 67135588 missense probably benign 0.29
R5309:Gnal UTSW 18 67213107 missense possibly damaging 0.49
R5579:Gnal UTSW 18 67088771 missense unknown
R5939:Gnal UTSW 18 67191385 missense probably damaging 0.98
R6277:Gnal UTSW 18 67213072 missense probably damaging 1.00
R7031:Gnal UTSW 18 67222588 missense probably damaging 0.99
R7142:Gnal UTSW 18 67218528 missense probably damaging 1.00
R7343:Gnal UTSW 18 67135525 missense probably benign 0.03
R7366:Gnal UTSW 18 67211071 missense possibly damaging 0.58
R7806:Gnal UTSW 18 67213074 missense probably damaging 1.00
Z1088:Gnal UTSW 18 67191403 missense probably damaging 1.00
Posted On2012-12-06