Incidental Mutation 'R5207:Or5b96'
ID 402115
Institutional Source Beutler Lab
Gene Symbol Or5b96
Ensembl Gene ENSMUSG00000057817
Gene Name olfactory receptor family 5 subfamily B member 96
Synonyms Olfr1446, MOR202-2, GA_x6K02T2RE5P-3220047-3219130
MMRRC Submission 042782-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R5207 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 12867013-12867939 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12867801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 47 (I47F)
Ref Sequence ENSEMBL: ENSMUSP00000149198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081236] [ENSMUST00000207741] [ENSMUST00000216805]
AlphaFold Q8VFX4
Predicted Effect probably benign
Transcript: ENSMUST00000081236
AA Change: I47F

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000079994
Gene: ENSMUSG00000057817
AA Change: I47F

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 2e-51 PFAM
Pfam:7TM_GPCR_Srsx 36 306 5.1e-6 PFAM
Pfam:7tm_1 42 291 9.7e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207319
AA Change: I47F
Predicted Effect probably benign
Transcript: ENSMUST00000207741
AA Change: I47F

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000216805
AA Change: I47F

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
Meta Mutation Damage Score 0.3998 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (60/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A T 1: 179,621,159 (GRCm39) probably benign Het
Alg6 C T 4: 99,607,431 (GRCm39) L15F possibly damaging Het
Allc T A 12: 28,605,325 (GRCm39) M325L probably benign Het
Ap3b2 T C 7: 81,126,517 (GRCm39) N361S possibly damaging Het
Bmp8b A G 4: 123,009,714 (GRCm39) probably benign Het
Borcs6 A T 11: 68,951,674 (GRCm39) T351S probably damaging Het
Ccar1 T C 10: 62,589,060 (GRCm39) R808G unknown Het
Celsr3 A T 9: 108,709,958 (GRCm39) T1480S probably benign Het
Chdh C T 14: 29,753,318 (GRCm39) P76S probably damaging Het
Chmp7 T C 14: 69,969,755 (GRCm39) S62G probably benign Het
Cldn23 A T 8: 36,293,182 (GRCm39) V102E probably damaging Het
Csn2 G A 5: 87,842,821 (GRCm39) Q69* probably null Het
Ctrc A C 4: 141,567,695 (GRCm39) I136S probably damaging Het
Cysltr2 A C 14: 73,266,951 (GRCm39) L253R probably damaging Het
Ddr2 G A 1: 169,812,530 (GRCm39) T654M probably damaging Het
Derl2 G T 11: 70,910,073 (GRCm39) probably null Het
Dnai7 A T 6: 145,124,794 (GRCm39) D510E probably damaging Het
Dock5 T C 14: 68,013,733 (GRCm39) S1330G probably benign Het
Emp3 T C 7: 45,569,373 (GRCm39) N56S probably benign Het
Fam161a A T 11: 22,970,583 (GRCm39) K195* probably null Het
Ficd T A 5: 113,875,072 (GRCm39) V47E probably benign Het
Garin3 T C 11: 46,295,990 (GRCm39) S121P probably benign Het
Gbp10 T C 5: 105,372,575 (GRCm39) T123A probably benign Het
Gdf7 C T 12: 8,348,371 (GRCm39) A309T unknown Het
Gm14486 G T 2: 30,548,572 (GRCm39) noncoding transcript Het
Herc1 T A 9: 66,307,151 (GRCm39) C990* probably null Het
Itgb4 T C 11: 115,897,365 (GRCm39) V1530A probably damaging Het
Itpka G A 2: 119,580,974 (GRCm39) R374H probably damaging Het
Lacc1 T A 14: 77,271,594 (GRCm39) probably null Het
Med23 A T 10: 24,771,734 (GRCm39) K225* probably null Het
Mrgpra3 T A 7: 47,239,909 (GRCm39) T6S probably benign Het
Mroh7 T A 4: 106,578,583 (GRCm39) N32Y probably damaging Het
Mrps2 A G 2: 28,359,763 (GRCm39) R207G probably damaging Het
Mup20 A C 4: 61,969,823 (GRCm39) probably null Het
Nagpa A G 16: 5,017,478 (GRCm39) probably null Het
Nek3 A T 8: 22,622,243 (GRCm39) probably benign Het
Nes G A 3: 87,885,935 (GRCm39) G1398E probably damaging Het
Nf1 G T 11: 79,345,015 (GRCm39) V1323L probably damaging Het
Or6b2 A T 1: 92,407,594 (GRCm39) F250I probably benign Het
Or6c2 T C 10: 129,362,773 (GRCm39) F226L probably benign Het
Paqr8 G T 1: 21,005,482 (GRCm39) C212F probably benign Het
Pcdhb1 T C 18: 37,399,515 (GRCm39) Y489H probably damaging Het
Piwil2 T C 14: 70,629,966 (GRCm39) K683E probably damaging Het
Pjvk A C 2: 76,480,734 (GRCm39) probably null Het
Pkd1l3 A T 8: 110,359,823 (GRCm39) S893C probably damaging Het
Plxna2 A G 1: 194,471,207 (GRCm39) T993A probably benign Het
Ppp2r2b A T 18: 42,821,417 (GRCm39) I247N probably damaging Het
Rac2 T C 15: 78,449,654 (GRCm39) N92S probably damaging Het
Senp2 A T 16: 21,860,130 (GRCm39) H501L possibly damaging Het
Snx29 A T 16: 11,556,227 (GRCm39) I753F probably damaging Het
Tcf20 T A 15: 82,740,386 (GRCm39) H355L probably damaging Het
Tex2 T C 11: 106,437,666 (GRCm39) D668G unknown Het
Tlr12 G A 4: 128,510,502 (GRCm39) Q583* probably null Het
Tmem119 T C 5: 113,933,289 (GRCm39) I171V probably damaging Het
Ube2m C T 7: 12,770,249 (GRCm39) probably null Het
Vmn2r25 A T 6: 123,817,062 (GRCm39) I173N probably damaging Het
Whrn A T 4: 63,350,951 (GRCm39) V15E probably damaging Het
Zfp558 A C 9: 18,368,296 (GRCm39) V164G possibly damaging Het
Other mutations in Or5b96
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Or5b96 APN 19 12,867,282 (GRCm39) missense probably benign 0.00
IGL01399:Or5b96 APN 19 12,867,803 (GRCm39) missense probably benign 0.28
IGL01697:Or5b96 APN 19 12,867,831 (GRCm39) missense probably benign 0.24
IGL01739:Or5b96 APN 19 12,867,513 (GRCm39) missense probably benign 0.02
IGL01894:Or5b96 APN 19 12,867,007 (GRCm39) utr 3 prime probably benign
R0164:Or5b96 UTSW 19 12,867,809 (GRCm39) missense probably damaging 1.00
R0164:Or5b96 UTSW 19 12,867,809 (GRCm39) missense probably damaging 1.00
R1163:Or5b96 UTSW 19 12,867,513 (GRCm39) missense probably benign 0.02
R1769:Or5b96 UTSW 19 12,867,047 (GRCm39) missense probably damaging 1.00
R4406:Or5b96 UTSW 19 12,867,598 (GRCm39) nonsense probably null
R5038:Or5b96 UTSW 19 12,867,770 (GRCm39) missense probably damaging 1.00
R5627:Or5b96 UTSW 19 12,867,663 (GRCm39) missense probably damaging 1.00
R5995:Or5b96 UTSW 19 12,867,961 (GRCm39) splice site probably null
R7953:Or5b96 UTSW 19 12,867,095 (GRCm39) missense probably damaging 1.00
R8043:Or5b96 UTSW 19 12,867,095 (GRCm39) missense probably damaging 1.00
R8254:Or5b96 UTSW 19 12,867,849 (GRCm39) missense probably benign 0.00
R8812:Or5b96 UTSW 19 12,867,560 (GRCm39) missense probably damaging 1.00
R9242:Or5b96 UTSW 19 12,867,989 (GRCm39) intron probably benign
X0062:Or5b96 UTSW 19 12,867,927 (GRCm39) missense probably benign 0.42
Predicted Primers PCR Primer
(F):5'- ACATCTGAGCAGCACAGTC -3'
(R):5'- CCCGCATTATCTTCTGGAATGTAC -3'

Sequencing Primer
(F):5'- CATCTGAGCAGCACAGTCATTGTAG -3'
(R):5'- CTGGAATGTACAAATACTAGTTGGC -3'
Posted On 2016-07-22