Incidental Mutation 'R2353:Or4b1'
ID 246244
Institutional Source Beutler Lab
Gene Symbol Or4b1
Ensembl Gene ENSMUSG00000075065
Gene Name olfactory receptor family 4 subfamily B member 1
Synonyms Olfr1270, GA_x6K02T2Q125-51584440-51583526, MOR227-1
MMRRC Submission 040335-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R2353 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89979363-89980380 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89980062 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 96 (L96Q)
Ref Sequence ENSEMBL: ENSMUSP00000150561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099754] [ENSMUST00000213946] [ENSMUST00000215578] [ENSMUST00000215975] [ENSMUST00000216354] [ENSMUST00000217139]
AlphaFold Q8VGP3
Predicted Effect probably damaging
Transcript: ENSMUST00000099754
AA Change: L96Q

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097343
Gene: ENSMUSG00000075065
AA Change: L96Q

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.3e-54 PFAM
Pfam:7TM_GPCR_Srsx 33 300 7.5e-6 PFAM
Pfam:7tm_1 39 285 2e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165784
SMART Domains Protein: ENSMUSP00000126140
Gene: ENSMUSG00000091703

DomainStartEndE-ValueType
HOX 19 81 1.29e-3 SMART
low complexity region 118 128 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000213946
AA Change: L96Q

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215578
AA Change: L96Q

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215975
AA Change: L96Q

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000216354
AA Change: L96Q

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000217139
AA Change: L96Q

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.2150 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 100% (32/32)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G T 4: 144,349,779 (GRCm39) E345D probably damaging Het
Adam7 T A 14: 68,742,537 (GRCm39) Q692L probably benign Het
Ankk1 A C 9: 49,329,990 (GRCm39) C322G probably benign Het
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Apeh T C 9: 107,963,491 (GRCm39) D577G possibly damaging Het
Aspm T A 1: 139,405,435 (GRCm39) W1441R probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cd163 G T 6: 124,296,115 (GRCm39) E820* probably null Het
Cd38 T A 5: 44,065,353 (GRCm39) probably null Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Enpp1 C A 10: 24,527,239 (GRCm39) Q649H probably benign Het
Garnl3 T A 2: 32,954,046 (GRCm39) R86S probably damaging Het
Gbe1 A G 16: 70,233,909 (GRCm39) probably null Het
Gm5117 A G 8: 32,229,223 (GRCm39) noncoding transcript Het
Hip1 A T 5: 135,441,566 (GRCm39) V568E probably damaging Het
Hspa14 G A 2: 3,512,213 (GRCm39) probably null Het
Lrrc4 A G 6: 28,831,451 (GRCm39) F55L probably benign Het
Med31 T A 11: 72,104,966 (GRCm39) N35I probably damaging Het
Msi1 C A 5: 115,574,568 (GRCm39) probably benign Het
Or1e34 T C 11: 73,778,660 (GRCm39) I179M probably benign Het
Parl T C 16: 20,105,790 (GRCm39) T211A probably benign Het
Ppwd1 T C 13: 104,350,090 (GRCm39) I432V probably benign Het
Scn10a T A 9: 119,467,753 (GRCm39) I796F probably damaging Het
Semp2l2a T A 8: 13,886,951 (GRCm39) E380V probably damaging Het
Sh3rf3 A G 10: 58,842,895 (GRCm39) D287G probably damaging Het
Sin3b T C 8: 73,450,780 (GRCm39) probably null Het
Ubr4 T C 4: 139,160,984 (GRCm39) I2493T possibly damaging Het
Uts2 T A 4: 151,084,593 (GRCm39) probably null Het
Zfp109 T C 7: 23,928,806 (GRCm39) D201G probably benign Het
Zfp407 A G 18: 84,578,005 (GRCm39) F1036S probably damaging Het
Znrf3 T C 11: 5,231,170 (GRCm39) E685G probably damaging Het
Other mutations in Or4b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02648:Or4b1 APN 2 89,979,697 (GRCm39) missense possibly damaging 0.61
IGL03034:Or4b1 APN 2 89,980,177 (GRCm39) missense probably damaging 1.00
R0726:Or4b1 UTSW 2 89,979,627 (GRCm39) missense probably damaging 1.00
R1573:Or4b1 UTSW 2 89,979,068 (GRCm39) utr 3 prime probably benign
R1965:Or4b1 UTSW 2 89,979,748 (GRCm39) missense probably damaging 0.98
R1966:Or4b1 UTSW 2 89,979,748 (GRCm39) missense probably damaging 0.98
R3805:Or4b1 UTSW 2 89,978,805 (GRCm39) utr 3 prime probably benign
R4606:Or4b1 UTSW 2 89,979,160 (GRCm39) utr 3 prime probably benign
R4662:Or4b1 UTSW 2 89,980,222 (GRCm39) missense probably damaging 1.00
R6198:Or4b1 UTSW 2 89,979,782 (GRCm39) missense probably damaging 1.00
R6596:Or4b1 UTSW 2 89,979,622 (GRCm39) missense possibly damaging 0.73
R6957:Or4b1 UTSW 2 89,979,494 (GRCm39) nonsense probably null
R7408:Or4b1 UTSW 2 89,980,188 (GRCm39) missense probably benign
R7418:Or4b1 UTSW 2 89,979,831 (GRCm39) missense probably damaging 1.00
R7454:Or4b1 UTSW 2 89,979,763 (GRCm39) missense possibly damaging 0.78
R7935:Or4b1 UTSW 2 89,979,928 (GRCm39) missense probably benign 0.00
R9006:Or4b1 UTSW 2 89,980,327 (GRCm39) missense probably damaging 1.00
R9157:Or4b1 UTSW 2 89,979,522 (GRCm39) missense possibly damaging 0.85
R9454:Or4b1 UTSW 2 89,979,820 (GRCm39) missense probably damaging 1.00
R9478:Or4b1 UTSW 2 89,979,595 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- CACATTGGGACCACAGAAGG -3'
(R):5'- TGTACCTGGCCACAGTGTTG -3'

Sequencing Primer
(F):5'- TGAATTATAGAATGTAAAAAGCCCCC -3'
(R):5'- CACAGTGTTGGGCAATGGC -3'
Posted On 2014-10-30