Incidental Mutation 'R2208:Or11h4b'
ID 236793
Institutional Source Beutler Lab
Gene Symbol Or11h4b
Ensembl Gene ENSMUSG00000057179
Gene Name olfactory receptor family 11 subfamily H member 4B
Synonyms MOR106-16, GA_x6K02T2PMLR-6420220-6419279, Olfr747, MOR106-7
MMRRC Submission 040210-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R2208 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 50918148-50919102 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50919020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 24 (I24V)
Ref Sequence ENSEMBL: ENSMUSP00000149081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078075] [ENSMUST00000205373] [ENSMUST00000205897] [ENSMUST00000213238]
AlphaFold E9PXH6
Predicted Effect probably benign
Transcript: ENSMUST00000078075
AA Change: I24V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000077220
Gene: ENSMUSG00000057179
AA Change: I24V

Pfam:7tm_4 30 307 2.2e-53 PFAM
Pfam:7tm_1 40 289 2.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205373
AA Change: I24V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000205897
Predicted Effect probably benign
Transcript: ENSMUST00000213238
AA Change: I24V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 98% (51/52)
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,995,096 (GRCm39) V5460A probably benign Het
Bco2 A G 9: 50,444,755 (GRCm39) V517A probably damaging Het
Brca2 T A 5: 150,455,809 (GRCm39) D183E probably damaging Het
Ccdc142 T C 6: 83,084,941 (GRCm39) probably null Het
Ccdc39 A G 3: 33,895,327 (GRCm39) L34P probably damaging Het
Cdc42bpb T A 12: 111,302,463 (GRCm39) H198L probably damaging Het
Cdc73 T A 1: 143,485,120 (GRCm39) E516V probably damaging Het
Cep170b T A 12: 112,705,419 (GRCm39) L1059Q probably benign Het
Chrm1 T C 19: 8,655,463 (GRCm39) L56P probably damaging Het
Clec4d T A 6: 123,242,314 (GRCm39) V22D probably damaging Het
Cplane1 T A 15: 8,223,887 (GRCm39) N883K probably benign Het
Cyp2c39 T C 19: 39,549,405 (GRCm39) Y308H possibly damaging Het
Cyp2d12 T C 15: 82,441,137 (GRCm39) L141P probably damaging Het
Cyp4x1 G T 4: 114,983,791 (GRCm39) Q85K probably benign Het
Dpysl5 G A 5: 30,948,941 (GRCm39) D399N probably damaging Het
Enpp7 T C 11: 118,879,588 (GRCm39) probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fitm2 T A 2: 163,314,604 (GRCm39) probably benign Het
Gng10 T A 4: 59,035,314 (GRCm39) I26N possibly damaging Het
Gpr33 C T 12: 52,070,236 (GRCm39) V268I probably benign Het
Hmcn2 G A 2: 31,270,309 (GRCm39) C1182Y probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Krt36 C T 11: 99,993,765 (GRCm39) V358M probably damaging Het
Lmod3 T C 6: 97,224,838 (GRCm39) I328V probably benign Het
Lrp8 T C 4: 107,712,987 (GRCm39) V580A probably damaging Het
Masp2 T C 4: 148,698,872 (GRCm39) I651T probably damaging Het
Mnd1 C A 3: 84,041,416 (GRCm39) C62F probably benign Het
Msi2 A T 11: 88,480,934 (GRCm39) S118T probably damaging Het
Muc19 T C 15: 91,755,747 (GRCm39) noncoding transcript Het
Nabp1 G A 1: 51,516,773 (GRCm39) R32* probably null Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Nup88 T C 11: 70,856,545 (GRCm39) D196G probably damaging Het
Pax1 T A 2: 147,207,722 (GRCm39) I198N probably damaging Het
Pde3a A G 6: 141,196,073 (GRCm39) E253G probably damaging Het
Phldb1 C T 9: 44,607,428 (GRCm39) R1192Q probably damaging Het
Pianp C A 6: 124,976,602 (GRCm39) P137Q probably damaging Het
Prdm15 A C 16: 97,600,464 (GRCm39) probably null Het
Ptprf A T 4: 118,126,369 (GRCm39) probably benign Het
Rfx7 A G 9: 72,525,246 (GRCm39) D812G probably benign Het
Rgs22 T C 15: 36,050,378 (GRCm39) T691A probably benign Het
Rundc3a A T 11: 102,292,914 (GRCm39) S436C probably damaging Het
Sntb1 T C 15: 55,769,714 (GRCm39) T92A possibly damaging Het
Tars3 T C 7: 65,332,596 (GRCm39) S566P probably damaging Het
Tbc1d32 A T 10: 56,026,888 (GRCm39) probably null Het
Tep1 T C 14: 51,104,321 (GRCm39) Q191R probably benign Het
Tmc2 C A 2: 130,056,483 (GRCm39) probably null Het
Tns1 A C 1: 74,118,399 (GRCm39) I77S probably damaging Het
Trpd52l3 T C 19: 29,981,646 (GRCm39) W134R probably damaging Het
Vmn2r15 A C 5: 109,445,309 (GRCm39) N38K possibly damaging Het
Wdr90 A T 17: 26,079,362 (GRCm39) D257E probably damaging Het
Zbtb9 T C 17: 27,193,098 (GRCm39) C168R possibly damaging Het
Zfp1004 T A 2: 150,035,065 (GRCm39) V462E probably benign Het
Other mutations in Or11h4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02437:Or11h4b APN 14 50,918,657 (GRCm39) missense probably benign 0.04
R0349:Or11h4b UTSW 14 50,918,711 (GRCm39) missense probably benign 0.00
R0613:Or11h4b UTSW 14 50,918,861 (GRCm39) missense probably benign 0.06
R1023:Or11h4b UTSW 14 50,918,473 (GRCm39) missense probably damaging 1.00
R1126:Or11h4b UTSW 14 50,918,720 (GRCm39) missense possibly damaging 0.94
R1298:Or11h4b UTSW 14 50,918,337 (GRCm39) nonsense probably null
R1344:Or11h4b UTSW 14 50,918,315 (GRCm39) missense probably benign
R1775:Or11h4b UTSW 14 50,918,623 (GRCm39) missense possibly damaging 0.66
R1928:Or11h4b UTSW 14 50,918,872 (GRCm39) missense probably benign 0.00
R4181:Or11h4b UTSW 14 50,918,507 (GRCm39) missense probably benign 0.07
R4183:Or11h4b UTSW 14 50,918,507 (GRCm39) missense probably benign 0.07
R4184:Or11h4b UTSW 14 50,918,507 (GRCm39) missense probably benign 0.07
R5104:Or11h4b UTSW 14 50,918,159 (GRCm39) nonsense probably null
R6144:Or11h4b UTSW 14 50,918,392 (GRCm39) missense probably benign 0.01
R6768:Or11h4b UTSW 14 50,919,049 (GRCm39) missense probably damaging 1.00
R7026:Or11h4b UTSW 14 50,918,716 (GRCm39) missense probably damaging 0.98
R7454:Or11h4b UTSW 14 50,918,281 (GRCm39) missense possibly damaging 0.94
R7777:Or11h4b UTSW 14 50,918,261 (GRCm39) missense probably damaging 1.00
R7851:Or11h4b UTSW 14 50,918,915 (GRCm39) missense probably damaging 1.00
R8427:Or11h4b UTSW 14 50,918,606 (GRCm39) missense probably damaging 0.99
X0067:Or11h4b UTSW 14 50,918,986 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-10-02