Incidental Mutation 'R7366:Gnal'
ID 571847
Institutional Source Beutler Lab
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
MMRRC Submission 045450-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.783) question?
Stock # R7366 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 67088336-67226792 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67211071 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 239 (V239A)
Ref Sequence ENSEMBL: ENSMUSP00000025402 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025402] [ENSMUST00000076605] [ENSMUST00000210564]
AlphaFold Q8CGK7
Predicted Effect possibly damaging
Transcript: ENSMUST00000025402
AA Change: V239A

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025402
Gene: ENSMUSG00000024524
AA Change: V239A

low complexity region 32 46 N/A INTRINSIC
G_alpha 89 447 1.18e-172 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000076605
AA Change: V172A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000075908
Gene: ENSMUSG00000024524
AA Change: V172A

G_alpha 22 380 5.02e-176 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000210564
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.1%
Validation Efficiency 99% (94/95)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700023F06Rik T C 11: 103,208,118 (GRCm38) probably null Het
1700030K09Rik C T 8: 72,449,459 (GRCm38) P244S possibly damaging Het
4930404N11Rik T C 10: 81,364,191 (GRCm38) D165G possibly damaging Het
4930562C15Rik A G 16: 4,835,769 (GRCm38) I61V unknown Het
Abcb11 C T 2: 69,299,867 (GRCm38) D282N probably damaging Het
Acbd3 A G 1: 180,734,499 (GRCm38) E181G probably benign Het
Ano3 T C 2: 110,757,067 (GRCm38) Y43C probably damaging Het
Aspa T A 11: 73,319,890 (GRCm38) probably null Het
AU018091 A T 7: 3,156,330 (GRCm38) N620K probably damaging Het
Bicc1 G T 10: 70,943,386 (GRCm38) T724K probably benign Het
Bmper T C 9: 23,484,004 (GRCm38) I677T probably damaging Het
C3 T A 17: 57,221,162 (GRCm38) T686S probably benign Het
Cc2d2a G T 5: 43,729,990 (GRCm38) R1315L probably damaging Het
Ccdc150 G T 1: 54,300,382 (GRCm38) E462* probably null Het
Ccdc88c C A 12: 100,944,950 (GRCm38) R875L possibly damaging Het
Cd177 C T 7: 24,756,722 (GRCm38) G207D probably damaging Het
Cdh23 A T 10: 60,315,692 (GRCm38) Y2471* probably null Het
Cep89 G A 7: 35,429,928 (GRCm38) R630H probably damaging Het
Cmbl A T 15: 31,589,856 (GRCm38) Y244F probably benign Het
Dcaf10 T C 4: 45,373,919 (GRCm38) V448A probably damaging Het
Ddr2 A G 1: 169,997,964 (GRCm38) W356R probably damaging Het
Depdc1a A G 3: 159,523,212 (GRCm38) I534V probably benign Het
Dhtkd1 T A 2: 5,917,906 (GRCm38) I481L probably benign Het
Dlst A T 12: 85,128,315 (GRCm38) I260L probably benign Het
Dnajc13 T G 9: 104,184,706 (GRCm38) K1350Q probably benign Het
Dpp4 T C 2: 62,354,599 (GRCm38) Y520C probably damaging Het
Dr1 C A 5: 108,275,728 (GRCm38) A127E unknown Het
Dsel C T 1: 111,861,573 (GRCm38) G411S probably damaging Het
E130308A19Rik T C 4: 59,752,770 (GRCm38) C628R probably damaging Het
Edem3 T A 1: 151,812,614 (GRCm38) probably null Het
Fam20a T A 11: 109,673,342 (GRCm38) Q528H possibly damaging Het
Fanca T C 8: 123,281,213 (GRCm38) E981G probably benign Het
Fbp2 A G 13: 62,837,198 (GRCm38) V303A possibly damaging Het
Flii C T 11: 60,721,119 (GRCm38) V353M possibly damaging Het
Gm10277 T A 11: 77,785,758 (GRCm38) Y129F unknown Het
Gm3159 A T 14: 4,398,525 (GRCm38) H72L probably benign Het
Gm5114 T G 7: 39,409,344 (GRCm38) T284P possibly damaging Het
Gm7168 T C 17: 13,949,885 (GRCm38) S505P probably damaging Het
Gtf2i C T 5: 134,265,749 (GRCm38) E370K probably damaging Het
Hivep3 CGG CG 4: 120,097,911 (GRCm38) 1141 probably null Het
Il3 T A 11: 54,265,883 (GRCm38) R93S probably benign Het
Itsn1 A G 16: 91,908,450 (GRCm38) E1573G unknown Het
Kif26a G A 12: 112,163,542 (GRCm38) probably null Het
Klb T C 5: 65,372,431 (GRCm38) M434T probably damaging Het
Lrp2 T A 2: 69,483,806 (GRCm38) R2194W probably damaging Het
Lrp6 G T 6: 134,450,818 (GRCm38) P1604T probably damaging Het
Mak16 A G 8: 31,166,099 (GRCm38) Y119H possibly damaging Het
Map3k19 T A 1: 127,817,455 (GRCm38) M1421L probably damaging Het
Mbd5 A G 2: 49,274,568 (GRCm38) I1186V probably benign Het
Mboat1 T A 13: 30,202,362 (GRCm38) C120S possibly damaging Het
Mctp2 T A 7: 72,259,214 (GRCm38) D117V probably benign Het
Mocos C A 18: 24,676,616 (GRCm38) N425K probably damaging Het
Nav2 A G 7: 49,554,203 (GRCm38) probably null Het
Ngfr A T 11: 95,574,429 (GRCm38) W198R possibly damaging Het
Nr4a3 T G 4: 48,051,290 (GRCm38) S15A possibly damaging Het
Obsl1 T C 1: 75,502,964 (GRCm38) S596G probably damaging Het
Olfr111 T A 17: 37,530,817 (GRCm38) V280D probably damaging Het
Olfr1414 A G 1: 92,511,678 (GRCm38) S117P possibly damaging Het
Olfr578 A T 7: 102,984,516 (GRCm38) I216K probably damaging Het
Olfr594 T G 7: 103,220,533 (GRCm38) Y272D probably benign Het
Olfr705 G T 7: 106,873,396 (GRCm38) P283Q probably damaging Het
Pithd1 T C 4: 135,987,050 (GRCm38) Y29C probably benign Het
Plcb3 T C 19: 6,962,021 (GRCm38) T530A probably benign Het
Prss40 A T 1: 34,559,871 (GRCm38) Y70* probably null Het
Ralgps1 T C 2: 33,324,688 (GRCm38) M61V possibly damaging Het
Rbp4 C T 19: 38,124,962 (GRCm38) R36H possibly damaging Het
Rnf125 A G 18: 20,974,433 (GRCm38) N7S not run Het
Rpe65 G A 3: 159,624,729 (GRCm38) S511N probably benign Het
Rspo4 A T 2: 151,867,873 (GRCm38) Y66F probably damaging Het
Ruvbl2 A G 7: 45,422,149 (GRCm38) S437P probably benign Het
Sele C A 1: 164,048,719 (GRCm38) R12S probably benign Het
Sgo2b T A 8: 63,938,417 (GRCm38) K139* probably null Het
Shroom3 C A 5: 92,964,606 (GRCm38) S1942* probably null Het
Slc12a9 G A 5: 137,328,623 (GRCm38) R191* probably null Het
Spag9 G T 11: 94,108,521 (GRCm38) V1088L possibly damaging Het
Sptb T G 12: 76,604,194 (GRCm38) D1669A probably damaging Het
Sptlc2 A G 12: 87,314,049 (GRCm38) probably null Het
Sult2a8 A T 7: 14,416,329 (GRCm38) probably null Het
Synpo2 A G 3: 123,114,041 (GRCm38) V542A probably damaging Het
Tecpr2 T C 12: 110,915,480 (GRCm38) probably null Het
Tenm2 T C 11: 36,069,414 (GRCm38) T1029A probably benign Het
Tgoln1 G C 6: 72,616,278 (GRCm38) T73R probably benign Het
Tnfaip8l1 C A 17: 56,171,897 (GRCm38) N62K probably damaging Het
Tollip A G 7: 141,889,597 (GRCm38) S174P probably benign Het
Trp53tg5 A G 2: 164,471,107 (GRCm38) I216T possibly damaging Het
Tssk5 A G 15: 76,374,513 (GRCm38) S58P probably benign Het
Ttc9b T C 7: 27,654,959 (GRCm38) Y157H probably damaging Het
Tuba8 A G 6: 121,222,912 (GRCm38) Y185C probably damaging Het
Ubr2 C T 17: 46,955,845 (GRCm38) A1127T probably damaging Het
Urb1 CACTTAC CAC 16: 90,772,573 (GRCm38) probably benign Het
Yipf3 T A 17: 46,248,929 (GRCm38) L57Q possibly damaging Het
Zbtb32 A C 7: 30,590,181 (GRCm38) C19G probably damaging Het
Zfp735 A T 11: 73,712,153 (GRCm38) H641L possibly damaging Het
Zfyve28 A T 5: 34,232,227 (GRCm38) Y210N probably damaging Het
Zpr1 T A 9: 46,273,373 (GRCm38) probably null Het
Other mutations in Gnal
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00790:Gnal APN 18 67,134,289 (GRCm38) splice site probably null
IGL01290:Gnal APN 18 67,211,098 (GRCm38) missense probably damaging 1.00
IGL02097:Gnal APN 18 67,217,208 (GRCm38) splice site probably benign
IGL02519:Gnal APN 18 67,088,765 (GRCm38) missense unknown
IGL02691:Gnal APN 18 67,222,675 (GRCm38) missense probably damaging 1.00
R0455:Gnal UTSW 18 67,135,649 (GRCm38) splice site probably benign
R0506:Gnal UTSW 18 67,088,673 (GRCm38) missense unknown
R2107:Gnal UTSW 18 67,213,578 (GRCm38) missense probably damaging 1.00
R3937:Gnal UTSW 18 67,135,370 (GRCm38) splice site probably null
R4246:Gnal UTSW 18 67,088,583 (GRCm38) missense unknown
R4247:Gnal UTSW 18 67,088,583 (GRCm38) missense unknown
R4299:Gnal UTSW 18 67,088,583 (GRCm38) missense unknown
R4343:Gnal UTSW 18 67,135,588 (GRCm38) missense probably benign 0.29
R5309:Gnal UTSW 18 67,213,107 (GRCm38) missense possibly damaging 0.49
R5579:Gnal UTSW 18 67,088,771 (GRCm38) missense unknown
R5939:Gnal UTSW 18 67,191,385 (GRCm38) missense probably damaging 0.98
R6277:Gnal UTSW 18 67,213,072 (GRCm38) missense probably damaging 1.00
R7031:Gnal UTSW 18 67,222,588 (GRCm38) missense probably damaging 0.99
R7142:Gnal UTSW 18 67,218,528 (GRCm38) missense probably damaging 1.00
R7343:Gnal UTSW 18 67,135,525 (GRCm38) missense probably benign 0.03
R7806:Gnal UTSW 18 67,213,074 (GRCm38) missense probably damaging 1.00
R8269:Gnal UTSW 18 67,135,622 (GRCm38) missense possibly damaging 0.87
R8504:Gnal UTSW 18 67,217,184 (GRCm38) nonsense probably null
R9005:Gnal UTSW 18 67,088,759 (GRCm38) nonsense probably null
R9369:Gnal UTSW 18 67,191,368 (GRCm38) critical splice acceptor site probably null
Z1088:Gnal UTSW 18 67,191,403 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-09-13