Incidental Mutation 'R7026:Or11h4b'
ID 545990
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 045127-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R7026 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 50918148-50919102 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50918716 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 125 (I125T)
Ref Sequence ENSEMBL: ENSMUSP00000149081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078075] [ENSMUST00000205373] [ENSMUST00000205897] [ENSMUST00000213238]
AlphaFold E9PXH6
Predicted Effect probably damaging
Transcript: ENSMUST00000078075
AA Change: I125T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077220
Gene: ENSMUSG00000057179
AA Change: I125T

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 2.2e-53 PFAM
Pfam:7tm_1 40 289 2.8e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205373
AA Change: I125T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000205897
Predicted Effect probably damaging
Transcript: ENSMUST00000213238
AA Change: I125T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (69/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,805,392 (GRCm39) M749L probably benign Het
Abcc2 A G 19: 43,818,974 (GRCm39) N1321S probably benign Het
Acsm2 T A 7: 119,191,450 (GRCm39) V506E probably damaging Het
Add2 G A 6: 86,063,965 (GRCm39) R88Q probably benign Het
Adgra3 A G 5: 50,118,083 (GRCm39) V1155A probably benign Het
Ahsg T A 16: 22,710,963 (GRCm39) D33E probably damaging Het
Alox12b A T 11: 69,048,131 (GRCm39) D20V possibly damaging Het
Alppl2 A G 1: 87,017,420 (GRCm39) probably null Het
Ankfn1 A G 11: 89,530,403 (GRCm39) *49Q probably null Het
Bcl11b T C 12: 107,882,851 (GRCm39) D488G probably damaging Het
Bcl2l10 T A 9: 75,258,364 (GRCm39) F175L probably benign Het
C2cd3 T A 7: 100,081,299 (GRCm39) D127E probably damaging Het
Cacna1c C T 6: 118,614,732 (GRCm39) V1311I probably damaging Het
Cd55b A T 1: 130,316,427 (GRCm39) I374K probably benign Het
Cfap36 T C 11: 29,172,565 (GRCm39) T267A probably benign Het
Cibar2 G A 8: 120,895,324 (GRCm39) H193Y probably damaging Het
Cog1 T C 11: 113,540,415 (GRCm39) L10P probably damaging Het
Dnah7a T A 1: 53,543,448 (GRCm39) M2241L probably benign Het
Dock10 G T 1: 80,479,504 (GRCm39) A1809E probably benign Het
Dock7 A T 4: 98,967,156 (GRCm39) D255E probably benign Het
Exph5 T C 9: 53,251,728 (GRCm39) F123L probably benign Het
Fbxw27 C A 9: 109,617,146 (GRCm39) K118N possibly damaging Het
Fscb C A 12: 64,518,391 (GRCm39) S1025I unknown Het
Get4 C T 5: 139,238,358 (GRCm39) R47W possibly damaging Het
Gm3676 G A 14: 41,366,072 (GRCm39) S81F probably benign Het
Gulp1 C T 1: 44,820,245 (GRCm39) P251S possibly damaging Het
Hhatl T C 9: 121,617,339 (GRCm39) D298G probably benign Het
Hsf2bp T A 17: 32,252,254 (GRCm39) K60N possibly damaging Het
Ints4 T A 7: 97,168,361 (GRCm39) V625D possibly damaging Het
Iqch T A 9: 63,432,421 (GRCm39) K286* probably null Het
Irak1bp1 T A 9: 82,712,084 (GRCm39) S2T possibly damaging Het
Kdm3b G A 18: 34,955,517 (GRCm39) V1135I possibly damaging Het
Lama3 C A 18: 12,649,605 (GRCm39) N181K probably damaging Het
Lrfn2 T G 17: 49,404,005 (GRCm39) S709R probably benign Het
Lrp12 T C 15: 39,743,566 (GRCm39) H123R probably damaging Het
Lrp1b A G 2: 41,159,234 (GRCm39) S1569P probably damaging Het
Lrp2 T G 2: 69,352,131 (GRCm39) Q635P probably damaging Het
Mboat2 T C 12: 24,998,381 (GRCm39) probably null Het
Mctp1 A G 13: 76,954,378 (GRCm39) T596A probably benign Het
Mroh9 T A 1: 162,888,251 (GRCm39) M275L probably benign Het
Ms4a10 A C 19: 10,944,869 (GRCm39) probably null Het
Myo9a C T 9: 59,722,617 (GRCm39) R560C probably damaging Het
Or5b107 A G 19: 13,142,779 (GRCm39) T134A probably benign Het
Or6z1 T A 7: 6,504,820 (GRCm39) H135L probably damaging Het
Ormdl3 A G 11: 98,474,808 (GRCm39) V45A possibly damaging Het
Parp4 T C 14: 56,858,049 (GRCm39) Y894H probably benign Het
Pigo G A 4: 43,023,380 (GRCm39) Q259* probably null Het
Prrc2a G A 17: 35,380,803 (GRCm39) P70S unknown Het
Rab3ip A G 10: 116,773,441 (GRCm39) I124T probably benign Het
Rap1b A G 10: 117,654,384 (GRCm39) I21T probably benign Het
Rasgrf2 T A 13: 92,131,732 (GRCm39) S642C probably damaging Het
Rb1 T C 14: 73,535,539 (GRCm39) E106G probably benign Het
Reps1 C A 10: 17,983,437 (GRCm39) R427S probably damaging Het
Rnf213 A C 11: 119,370,481 (GRCm39) H4760P possibly damaging Het
Rtl1 A G 12: 109,559,595 (GRCm39) I748T probably damaging Het
Sco1 A T 11: 66,944,683 (GRCm39) K102M probably damaging Het
Sec16b T C 1: 157,362,281 (GRCm39) M44T possibly damaging Het
Slc7a10 T C 7: 34,898,139 (GRCm39) M297T probably damaging Het
Smchd1 T C 17: 71,656,662 (GRCm39) H1935R probably benign Het
Sowaha G A 11: 53,370,050 (GRCm39) R229W probably damaging Het
Sptlc3 A T 2: 139,379,608 (GRCm39) M83L probably benign Het
Tbc1d9 T C 8: 83,968,192 (GRCm39) V431A probably benign Het
Tmem98 A G 11: 80,712,214 (GRCm39) E217G possibly damaging Het
Trim13 T A 14: 61,842,562 (GRCm39) L193* probably null Het
Trp53bp2 T C 1: 182,270,300 (GRCm39) S367P probably benign Het
Tsc2 T G 17: 24,845,713 (GRCm39) I202L probably damaging Het
Twf2 T A 9: 106,092,079 (GRCm39) V312E probably damaging Het
Usp34 G T 11: 23,311,622 (GRCm39) L471F probably damaging Het
Vps37c A G 19: 10,683,632 (GRCm39) D18G probably damaging Het
Zfp1010 T A 2: 176,957,361 (GRCm39) I46F 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
R2208:Or11h4b UTSW 14 50,919,020 (GRCm39) missense probably benign 0.01
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
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
(F):5'- AATGGGTCCATGTCACAGAGG -3'
(R):5'- TGTGACTCACGTCTACATACCC -3'

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