Incidental Mutation 'R2507:Or6b3'
ID 251263
Institutional Source Beutler Lab
Gene Symbol Or6b3
Ensembl Gene ENSMUSG00000042849
Gene Name olfactory receptor family 6 subfamily B member 3
Synonyms MOR103-2, GA_x6K02T2R7CC-81245243-81246181, Olfr1414
MMRRC Submission 040413-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R2507 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 92438770-92446237 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92439100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 217 (S217P)
Ref Sequence ENSEMBL: ENSMUSP00000140956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062353] [ENSMUST00000189174]
AlphaFold Q8VGU5
Predicted Effect probably damaging
Transcript: ENSMUST00000062353
AA Change: S217P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054752
Gene: ENSMUSG00000042849
AA Change: S217P

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 4.7e-52 PFAM
Pfam:7tm_1 41 290 5.7e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000188197
AA Change: S217P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139693
Gene: ENSMUSG00000042849
AA Change: S217P

DomainStartEndE-ValueType
low complexity region 23 40 N/A INTRINSIC
Pfam:7tm_1 41 233 1.6e-23 PFAM
Pfam:7tm_4 139 234 1.1e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000189174
AA Change: S217P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140956
Gene: ENSMUSG00000042849
AA Change: S217P

DomainStartEndE-ValueType
low complexity region 23 40 N/A INTRINSIC
Pfam:7tm_1 41 290 4.2e-25 PFAM
Pfam:7tm_4 139 283 4.3e-42 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik A G 10: 21,497,681 (GRCm39) probably benign Het
4930535I16Rik G A 4: 123,811,740 (GRCm39) probably benign Het
Akr1b1 C T 6: 34,286,999 (GRCm39) E186K probably damaging Het
Apc A T 18: 34,449,590 (GRCm39) N2128I possibly damaging Het
Api5 T C 2: 94,260,162 (GRCm39) I31M probably damaging Het
Armcx4 T G X: 133,596,128 (GRCm39) V2012G possibly damaging Het
Aurka T C 2: 172,212,365 (GRCm39) E4G probably benign Het
B4galt5 T A 2: 167,148,558 (GRCm39) M187L probably benign Het
Bsn T C 9: 107,993,313 (GRCm39) D813G probably damaging Het
Bub1 A T 2: 127,643,343 (GRCm39) D1000E probably benign Het
Cacna1f T G X: 7,492,687 (GRCm39) probably null Het
Cdh6 A G 15: 13,041,447 (GRCm39) I539T probably benign Het
Cdhr3 T C 12: 33,088,914 (GRCm39) D756G probably benign Het
Cenph A T 13: 100,907,744 (GRCm39) D85E probably benign Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clec2h A G 6: 128,650,945 (GRCm39) N75S probably benign Het
Cnga1 C T 5: 72,776,404 (GRCm39) V20I possibly damaging Het
Cox4i1 T A 8: 121,400,029 (GRCm39) V51E possibly damaging Het
Cpne3 A T 4: 19,553,871 (GRCm39) N53K probably damaging Het
Cpt1b A G 15: 89,303,301 (GRCm39) F585L probably benign Het
Daam1 G A 12: 72,021,997 (GRCm39) D732N probably damaging Het
Dner A T 1: 84,560,801 (GRCm39) C115S probably damaging Het
Dop1a T A 9: 86,395,170 (GRCm39) F759Y probably damaging Het
Dst T C 1: 34,050,990 (GRCm39) Y29H probably damaging Het
Dst T C 1: 34,227,498 (GRCm39) V1875A possibly damaging Het
Duox1 A G 2: 122,163,619 (GRCm39) D817G probably benign Het
Emc2 A T 15: 43,375,094 (GRCm39) probably null Het
Erich3 A T 3: 154,404,296 (GRCm39) E51V probably null Het
Exoc2 A G 13: 31,066,348 (GRCm39) Y443H possibly damaging Het
Fbf1 T C 11: 116,046,252 (GRCm39) R200G probably benign Het
Fdxr G A 11: 115,162,806 (GRCm39) T100I probably damaging Het
Galnt11 C G 5: 25,452,610 (GRCm39) P41A probably damaging Het
Galnt4 A G 10: 98,945,148 (GRCm39) K291R possibly damaging Het
Gm12695 T A 4: 96,642,426 (GRCm39) E301V probably damaging Het
Gopc C T 10: 52,229,422 (GRCm39) probably null Het
Gria1 A T 11: 57,180,146 (GRCm39) T699S probably null Het
Gsr T G 8: 34,170,316 (GRCm39) D200E probably benign Het
Ikzf2 G A 1: 69,578,447 (GRCm39) A282V probably benign Het
Irak2 T C 6: 113,624,639 (GRCm39) I45T probably damaging Het
Irx1 T C 13: 72,107,939 (GRCm39) K248E probably damaging Het
Kcns3 A C 12: 11,142,087 (GRCm39) V204G possibly damaging Het
Lmo1 C A 7: 108,739,848 (GRCm39) M91I probably damaging Het
Map3k21 A G 8: 126,666,677 (GRCm39) D623G possibly damaging Het
Map4 A G 9: 109,866,551 (GRCm39) probably benign Het
Mark3 T A 12: 111,593,676 (GRCm39) V236E probably damaging Het
Med23 A G 10: 24,786,711 (GRCm39) D939G probably damaging Het
Mrgpra9 A G 7: 46,885,242 (GRCm39) C142R possibly damaging Het
N4bp2 T A 5: 65,947,404 (GRCm39) D11E probably benign Het
Ntng2 T C 2: 29,097,531 (GRCm39) N310S probably damaging Het
Or10ak7 T C 4: 118,791,122 (GRCm39) M308V probably benign Het
Pcolce A G 5: 137,605,313 (GRCm39) V260A possibly damaging Het
Pds5b C A 5: 150,679,893 (GRCm39) T533K possibly damaging Het
Pecr A G 1: 72,301,135 (GRCm39) Y268H probably benign Het
Phax T A 18: 56,719,956 (GRCm39) F299Y probably damaging Het
Phip T C 9: 82,797,392 (GRCm39) H537R possibly damaging Het
Pramel32 T A 4: 88,547,448 (GRCm39) K161N possibly damaging Het
Prpf39 T A 12: 65,104,589 (GRCm39) F551L probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ralgapa1 G A 12: 55,764,986 (GRCm39) P889S probably damaging Het
Rpap1 A G 2: 119,610,535 (GRCm39) probably null Het
Rufy3 T C 5: 88,797,757 (GRCm39) S645P probably damaging Het
Samd1 CGAGGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 8: 84,725,625 (GRCm39) probably benign Het
Spata7 G T 12: 98,624,709 (GRCm39) A172S probably benign Het
Stk35 A G 2: 129,643,435 (GRCm39) T140A probably damaging Het
Thop1 T G 10: 80,906,098 (GRCm39) M1R probably null Het
Tlr1 T C 5: 65,082,639 (GRCm39) Y646C probably damaging Het
Tpp2 A G 1: 44,040,609 (GRCm39) Y290C probably benign Het
Tpr A G 1: 150,268,695 (GRCm39) M1V probably null Het
Trim6 T C 7: 103,877,392 (GRCm39) F161L probably damaging Het
Ubash3b T C 9: 41,068,650 (GRCm39) K25E possibly damaging Het
Unc45b G A 11: 82,830,963 (GRCm39) probably null Het
Unc80 A G 1: 66,651,266 (GRCm39) N1537S possibly damaging Het
Usb1 T C 8: 96,069,752 (GRCm39) F100S probably damaging Het
Vmn1r17 C A 6: 57,338,244 (GRCm39) L40F probably damaging Het
Vmn1r233 A T 17: 21,214,110 (GRCm39) M280K probably benign Het
Zfp37 A T 4: 62,109,493 (GRCm39) C524S probably damaging Het
Zfp426 T C 9: 20,381,727 (GRCm39) K420R probably benign Het
Other mutations in Or6b3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01415:Or6b3 APN 1 92,438,974 (GRCm39) missense probably damaging 1.00
IGL01951:Or6b3 APN 1 92,438,853 (GRCm39) missense probably null 0.00
IGL02748:Or6b3 APN 1 92,439,189 (GRCm39) missense probably damaging 1.00
R1451:Or6b3 UTSW 1 92,439,517 (GRCm39) missense possibly damaging 0.78
R1926:Or6b3 UTSW 1 92,439,330 (GRCm39) missense probably damaging 0.98
R1978:Or6b3 UTSW 1 92,439,499 (GRCm39) missense probably damaging 1.00
R4820:Or6b3 UTSW 1 92,438,812 (GRCm39) makesense probably null
R7205:Or6b3 UTSW 1 92,439,573 (GRCm39) missense probably benign 0.04
R7258:Or6b3 UTSW 1 92,438,898 (GRCm39) missense possibly damaging 0.67
R7366:Or6b3 UTSW 1 92,439,400 (GRCm39) missense possibly damaging 0.88
R7467:Or6b3 UTSW 1 92,439,570 (GRCm39) missense possibly damaging 0.79
R9119:Or6b3 UTSW 1 92,438,904 (GRCm39) missense probably damaging 0.99
R9239:Or6b3 UTSW 1 92,439,454 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACAGAGATGAGTTTGTTGGAGC -3'
(R):5'- ATCATGACCACAGGGCTCTG -3'

Sequencing Primer
(F):5'- AGCTCCGGGTATCGATGG -3'
(R):5'- CAGCATCTCTGTGATTAAGGTCTAC -3'
Posted On 2014-12-04