Incidental Mutation 'R6728:Or11h4'
ID 529954
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 044846-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R6728 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 50973676-50981781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50974296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 108 (T108A)
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: T108A

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000074242
Gene: ENSMUSG00000059069
AA Change: T108A

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: T108A

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,384,645 (GRCm39) Y440C possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Adcy5 T A 16: 34,977,535 (GRCm39) V356E possibly damaging Het
Agmat G T 4: 141,476,897 (GRCm39) C101F probably benign Het
Aoc1l3 T C 6: 48,965,779 (GRCm39) S596P possibly damaging Het
Atl1 T C 12: 69,994,324 (GRCm39) V276A possibly damaging Het
Barhl1 G A 2: 28,805,495 (GRCm39) P66L probably benign Het
Camk4 A T 18: 33,317,992 (GRCm39) E383V probably benign Het
Cap2 G A 13: 46,793,335 (GRCm39) E234K possibly damaging Het
Col24a1 A T 3: 145,020,957 (GRCm39) M443L probably benign Het
Cyp17a1 A G 19: 46,657,673 (GRCm39) V293A probably benign Het
Epha6 C A 16: 60,245,198 (GRCm39) A334S possibly damaging Het
Frmpd1 T C 4: 45,284,664 (GRCm39) S1162P probably benign Het
Hspbp1 T A 7: 4,663,781 (GRCm39) M355L possibly damaging Het
Insrr C T 3: 87,720,873 (GRCm39) R1044C probably damaging Het
Kin G A 2: 10,094,959 (GRCm39) R82Q possibly damaging Het
Ninl G T 2: 150,817,777 (GRCm39) S129* probably null Het
Or4k35 A T 2: 111,100,018 (GRCm39) D231E probably benign Het
Paqr5 C T 9: 61,871,065 (GRCm39) R171Q probably damaging Het
Platr25 G A 13: 62,848,197 (GRCm39) H222Y probably damaging Het
Plcb2 G T 2: 118,554,171 (GRCm39) S94Y probably damaging Het
Rock2 T C 12: 17,011,737 (GRCm39) Y722H probably benign Het
Sh3kbp1 A T X: 158,624,176 (GRCm39) E39D probably benign Homo
Thsd4 T C 9: 59,904,480 (GRCm39) D572G probably benign Het
Tnrc6b T A 15: 80,802,727 (GRCm39) L1510H probably damaging Het
Tsc2 A G 17: 24,840,098 (GRCm39) S433P probably damaging Het
Vegfc T C 8: 54,639,057 (GRCm39) V401A probably damaging Het
Vwa3b A G 1: 37,196,453 (GRCm39) M27V 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
R7033:Or11h4 UTSW 14 50,974,164 (GRCm39) missense possibly damaging 0.78
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'- ATGGGTCCATGTCACAGAGG -3'
(R):5'- TGTGACTCACGTCTACATACCC -3'

Sequencing Primer
(F):5'- TCCATGTCACAGAGGAAGTGATC -3'
(R):5'- TCACGTCTACATACCCCCATG -3'
Posted On 2018-08-01