Incidental Mutation 'R7033:Or11h4'
ID 546478
Institutional Source Beutler Lab
Gene Symbol Or11h4
Ensembl Gene ENSMUSG00000059069
Gene Name olfactory receptor family 11 subfamily H member 4
Synonyms MOR106-1, Olfr749, GA_x6K02T2PMLR-6484046-6483105
MMRRC Submission 045134-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R7033 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 50973676-50981781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50974164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 152 (F152L)
Ref Sequence ENSEMBL: ENSMUSP00000150627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074674] [ENSMUST00000214290]
AlphaFold E9Q438
Predicted Effect possibly damaging
Transcript: ENSMUST00000074674
AA Change: F152L

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074242
Gene: ENSMUSG00000059069
AA Change: F152L

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 5.2e-53 PFAM
Pfam:7tm_1 40 289 7.3e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214290
AA Change: F152L

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 96% (70/73)
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]
PHENOTYPE: A reporter allele shows expression of this olfactory receptor by embryonic day 15.5 and throughout olfactory development there is an increase in the numbers of expressing olfactory sensory neurons with expression localized to the dorsal main olfactory epithelium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik A G 14: 41,819,374 (GRCm39) Y105C probably damaging Het
Acr T C 15: 89,453,703 (GRCm39) S81P probably benign Het
Akr1c14 T C 13: 4,129,178 (GRCm39) probably null Het
Ank2 C A 3: 126,738,499 (GRCm39) E2375* probably null Het
Avpi1 A G 19: 42,113,416 (GRCm39) W14R probably damaging Het
Brd4 A G 17: 32,417,989 (GRCm39) V55A probably benign Het
Casp8ap2 A G 4: 32,639,392 (GRCm39) N149D probably damaging Het
Ccl25 A T 8: 4,399,641 (GRCm39) probably benign Het
Celf5 A G 10: 81,298,548 (GRCm39) L299P probably damaging Het
Cfap418 A G 4: 10,898,014 (GRCm39) T199A probably benign Het
Cfap57 T G 4: 118,470,323 (GRCm39) T186P possibly damaging Het
Chrm4 A G 2: 91,758,692 (GRCm39) M367V probably benign Het
Col1a2 A T 6: 4,516,904 (GRCm39) probably benign Het
Crybg3 G A 16: 59,374,528 (GRCm39) P2242L probably damaging Het
Cspg4 T C 9: 56,795,358 (GRCm39) V1031A probably damaging Het
Dbnl C A 11: 5,748,102 (GRCm39) P313T probably benign Het
Dnah1 A G 14: 30,986,882 (GRCm39) F3637L probably damaging Het
Dnah7a A T 1: 53,518,820 (GRCm39) I2979N probably damaging Het
Dusp10 T C 1: 183,769,802 (GRCm39) V256A possibly damaging Het
Dync2i1 T C 12: 116,175,511 (GRCm39) M889V probably benign Het
Erlin2 T C 8: 27,521,792 (GRCm39) V164A probably benign Het
Fam110a T C 2: 151,812,131 (GRCm39) D213G probably damaging Het
Fkbp1a T C 2: 151,399,420 (GRCm39) probably null Het
Foxg1 G A 12: 49,431,503 (GRCm39) probably benign Het
Gm12185 T C 11: 48,806,826 (GRCm39) S122G probably benign Het
Gm2042 A T 12: 87,927,051 (GRCm39) D456V probably damaging Het
Grin2b A G 6: 135,900,036 (GRCm39) Y282H probably damaging Het
Gys2 T C 6: 142,418,448 (GRCm39) D27G probably benign Het
H2-DMa T A 17: 34,355,971 (GRCm39) probably null Het
Hectd4 T A 5: 121,502,631 (GRCm39) I4245N possibly damaging Het
Incenp A G 19: 9,870,736 (GRCm39) Y298H unknown Het
Ints2 C T 11: 86,123,911 (GRCm39) G626R probably damaging Het
Kifc1 A T 17: 34,102,671 (GRCm39) V314E probably damaging Het
Lurap1l C T 4: 80,829,604 (GRCm39) P5S probably benign Het
Mtmr11 A G 3: 96,077,262 (GRCm39) Y540C probably damaging Het
Muc4 C A 16: 32,576,698 (GRCm39) probably benign Het
Myh13 A G 11: 67,260,142 (GRCm39) E1860G possibly damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nbeal1 G A 1: 60,350,106 (GRCm39) G2385D probably damaging Het
Ncaph2 G A 15: 89,255,559 (GRCm39) A578T probably benign Het
Ncr1 T C 7: 4,341,144 (GRCm39) V8A possibly damaging Het
Nutm1 T C 2: 112,086,513 (GRCm39) T73A probably damaging Het
Olfm1 G A 2: 28,119,348 (GRCm39) D313N probably damaging Het
Or13f5 A G 4: 52,826,089 (GRCm39) M231V probably benign Het
Or4a66 T A 2: 88,531,164 (GRCm39) N170Y probably damaging Het
Otog T A 7: 45,916,822 (GRCm39) probably null Het
Peak1 G T 9: 56,166,991 (GRCm39) D312E probably damaging Het
Plekhg1 T C 10: 3,890,251 (GRCm39) I331T probably damaging Het
Polr1b T C 2: 128,957,562 (GRCm39) V539A possibly damaging Het
Polr2a A T 11: 69,638,039 (GRCm39) H143Q possibly damaging Het
Ppargc1b G T 18: 61,440,785 (GRCm39) A711D probably damaging Het
Prnd T A 2: 131,795,362 (GRCm39) C161S possibly damaging Het
Prrt4 A G 6: 29,171,147 (GRCm39) L435P possibly damaging Het
Psen2 C T 1: 180,055,085 (GRCm39) probably null Het
Psg23 T C 7: 18,348,669 (GRCm39) E46G possibly damaging Het
Rasgef1b C T 5: 99,380,195 (GRCm39) R350H probably damaging Het
Rfxank G C 8: 70,590,820 (GRCm39) P16A probably benign Het
Sema6a A G 18: 47,381,637 (GRCm39) I944T probably damaging Het
Serpinc1 A G 1: 160,825,091 (GRCm39) T313A probably benign Het
Slc27a4 T C 2: 29,694,283 (GRCm39) S36P possibly damaging Het
Slc36a1 C A 11: 55,114,563 (GRCm39) R214S probably benign Het
Sorl1 C T 9: 41,942,279 (GRCm39) S982N possibly damaging Het
Speer1k G T 5: 11,000,518 (GRCm39) probably null Het
Syt1 A C 10: 108,526,797 (GRCm39) D37E probably benign Het
Tcl1b5 A T 12: 105,142,750 (GRCm39) D26V probably damaging Het
Tenm4 A T 7: 96,544,430 (GRCm39) K2149* probably null Het
Ubc T A 5: 125,465,238 (GRCm39) I30F probably damaging Het
Ugt1a7c A T 1: 88,023,250 (GRCm39) E136D possibly damaging Het
Utp20 A G 10: 88,590,337 (GRCm39) probably null Het
Vmn1r159 C T 7: 22,542,289 (GRCm39) V248I probably damaging Het
Vmn2r105 T C 17: 20,428,874 (GRCm39) H734R probably damaging Het
Xrcc2 T G 5: 25,897,707 (GRCm39) I81L possibly damaging Het
Zfat A C 15: 68,052,864 (GRCm39) I310S probably damaging Het
Zfp119a A G 17: 56,173,009 (GRCm39) V278A probably benign Het
Zfp53 A G 17: 21,720,508 (GRCm39) K33E probably benign Het
Zfp866 G T 8: 70,218,491 (GRCm39) H376Q probably damaging Het
Other mutations in Or11h4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03188:Or11h4 APN 14 50,974,315 (GRCm39) nonsense probably null
R0141:Or11h4 UTSW 14 50,973,840 (GRCm39) missense possibly damaging 0.94
R0462:Or11h4 UTSW 14 50,974,554 (GRCm39) missense probably benign
R1424:Or11h4 UTSW 14 50,974,521 (GRCm39) missense probably benign
R1791:Or11h4 UTSW 14 50,974,144 (GRCm39) small insertion probably benign
R1912:Or11h4 UTSW 14 50,974,235 (GRCm39) missense probably damaging 1.00
R2069:Or11h4 UTSW 14 50,974,033 (GRCm39) missense possibly damaging 0.51
R2171:Or11h4 UTSW 14 50,973,876 (GRCm39) missense probably benign 0.33
R2176:Or11h4 UTSW 14 50,973,681 (GRCm39) missense probably benign
R2184:Or11h4 UTSW 14 50,974,059 (GRCm39) missense probably damaging 0.98
R3158:Or11h4 UTSW 14 50,974,271 (GRCm39) missense probably benign 0.01
R5068:Or11h4 UTSW 14 50,974,531 (GRCm39) missense probably benign 0.02
R5069:Or11h4 UTSW 14 50,974,531 (GRCm39) missense probably benign 0.02
R5070:Or11h4 UTSW 14 50,974,531 (GRCm39) missense probably benign 0.02
R5733:Or11h4 UTSW 14 50,974,509 (GRCm39) missense probably benign 0.32
R6155:Or11h4 UTSW 14 50,974,076 (GRCm39) missense probably benign 0.02
R6728:Or11h4 UTSW 14 50,974,296 (GRCm39) missense possibly damaging 0.61
R7276:Or11h4 UTSW 14 50,974,187 (GRCm39) missense possibly damaging 0.90
R7535:Or11h4 UTSW 14 50,974,122 (GRCm39) missense probably benign 0.37
R8124:Or11h4 UTSW 14 50,973,743 (GRCm39) missense probably benign 0.03
R9021:Or11h4 UTSW 14 50,974,554 (GRCm39) missense probably benign
R9632:Or11h4 UTSW 14 50,974,199 (GRCm39) missense probably benign 0.42
R9710:Or11h4 UTSW 14 50,974,199 (GRCm39) missense probably benign 0.42
Predicted Primers PCR Primer
(F):5'- GCCCTGAGCAACAAAATATAGG -3'
(R):5'- AGGCCATCTCATTTTCAGGG -3'

Sequencing Primer
(F):5'- ACCGAAGAATGTATGCAATAGTG -3'
(R):5'- GCCATCTCATTTTCAGGGTGCTTC -3'
Posted On 2019-05-13