Incidental Mutation 'IGL02097:Gnal'
ID 279652
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 Gna10, 9630020G10Rik, Galphaolf, 2610011C15Rik, Golf, G alpha 10
Accession Numbers
Essential gene? Probably essential (E-score: 0.783) question?
Stock # IGL02097
Quality Score
Chromosome 18
Chromosomal Location 67088336-67226792 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 67217208 bp (GRCm38)
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 benign
Transcript: ENSMUST00000025402
SMART Domains Protein: ENSMUSP00000025402
Gene: ENSMUSG00000024524

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

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A T 5: 104,961,186 V415D possibly damaging Het
Adcy3 C T 12: 4,212,118 A1056V probably damaging Het
Adcy5 G A 16: 35,272,098 A610T probably damaging Het
Arhgap21 G A 2: 20,880,002 T788I probably benign Het
Asic1 T C 15: 99,694,686 probably benign Het
Cdhr4 T A 9: 107,993,000 M68K probably benign Het
Cdhr5 G T 7: 141,269,981 T637K probably damaging Het
Corin A T 5: 72,372,146 C289S probably damaging Het
Cpne4 T C 9: 104,686,502 V26A probably damaging Het
Csmd1 T C 8: 16,211,759 D908G probably null Het
Cyp2c29 A G 19: 39,307,620 D126G probably damaging Het
Ddx42 G A 11: 106,239,160 S426N probably benign Het
Dnah1 C T 14: 31,305,001 V689M possibly damaging Het
Dtwd1 A G 2: 126,164,795 T246A probably damaging Het
Fbn1 A T 2: 125,363,969 M1036K probably damaging Het
Fbxo10 T C 4: 45,048,527 N536S probably benign Het
Gns A G 10: 121,390,693 T416A probably benign Het
Heatr5b G A 17: 78,817,514 T603I probably damaging Het
Hsp90b1 T A 10: 86,691,684 probably benign Het
Krt23 C T 11: 99,493,010 G19R probably benign Het
Lama2 C T 10: 27,138,960 R1584H probably benign Het
Lmbr1l C T 15: 98,917,891 V11M probably damaging Het
Man1a2 T C 3: 100,582,131 K511E possibly damaging Het
Mrgpra3 C A 7: 47,589,456 V241F possibly damaging Het
Myh3 A G 11: 67,082,924 D141G probably benign Het
Mylk2 G A 2: 152,915,136 C277Y probably damaging Het
Myo3b A T 2: 70,238,829 T471S probably damaging Het
Naip1 A G 13: 100,425,588 V1023A probably benign Het
Olfm5 T A 7: 104,154,231 T342S probably benign Het
Olfr1510 A G 14: 52,410,054 F273L probably benign Het
Olfr38 T A 6: 42,762,460 M136K probably damaging Het
Pglyrp4 T C 3: 90,735,603 F263L probably benign Het
Plekhh2 A T 17: 84,599,180 T1148S possibly damaging Het
Prrc2b T C 2: 32,191,501 probably benign Het
Rbm28 G T 6: 29,138,618 D398E possibly damaging Het
Rnf220 A G 4: 117,273,327 F234L probably benign Het
Sele T C 1: 164,053,093 S415P probably benign Het
Shpk T C 11: 73,203,995 L79P probably damaging Het
Slc35f4 C T 14: 49,306,246 A148T probably damaging Het
Slc6a20a G A 9: 123,660,619 P120S possibly damaging Het
Slc8a2 A G 7: 16,157,156 E701G possibly damaging Het
Slco1a1 T A 6: 141,940,039 I87F possibly damaging Het
Srebf1 T G 11: 60,202,824 D739A probably damaging Het
Thg1l A G 11: 45,950,228 Y175H probably benign Het
Traf3ip2 G A 10: 39,654,479 V540M probably damaging Het
Wdr48 A G 9: 119,924,263 D644G probably damaging Het
Zbtb1 A T 12: 76,386,597 K452N probably damaging Het
Zfhx2 C T 14: 55,062,894 G2467R probably damaging Het
Zfp334 A T 2: 165,381,723 Y133* probably null Het
Other mutations in Gnal
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Gnal APN 18 67134289 splice site probably null
IGL01290:Gnal APN 18 67211098 missense probably damaging 1.00
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
R8269:Gnal UTSW 18 67135622 missense possibly damaging 0.87
R8504:Gnal UTSW 18 67217184 nonsense probably null
R9005:Gnal UTSW 18 67088759 nonsense probably null
R9369:Gnal UTSW 18 67191368 critical splice acceptor site probably null
Z1088:Gnal UTSW 18 67191403 missense probably damaging 1.00
Posted On 2015-04-16