Incidental Mutation 'R6230:Or56b35'
ID 504618
Institutional Source Beutler Lab
Gene Symbol Or56b35
Ensembl Gene ENSMUSG00000073907
Gene Name olfactory receptor family 56 subfamily B member 35
Synonyms Olfr689, MOR40-3, GA_x6K02T2PBJ9-7942985-7943947
MMRRC Submission 044359-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R6230 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 104963213-104964175 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104963289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 26 (H26R)
Ref Sequence ENSEMBL: ENSMUSP00000151049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098153] [ENSMUST00000215413]
AlphaFold Q8VG18
Predicted Effect possibly damaging
Transcript: ENSMUST00000098153
AA Change: H26R

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000095756
Gene: ENSMUSG00000073907
AA Change: H26R

DomainStartEndE-ValueType
Pfam:7tm_4 36 313 4.3e-74 PFAM
Pfam:7TM_GPCR_Srsx 40 311 3.9e-8 PFAM
Pfam:7tm_1 46 296 1.6e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215413
AA Change: H26R

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.1%
Validation Efficiency 100% (49/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp T C 2: 168,024,452 (GRCm39) T948A probably benign Het
Arhgef12 T C 9: 42,900,261 (GRCm39) I871V probably benign Het
Atf1 T C 15: 100,130,705 (GRCm39) V25A possibly damaging Het
Atp23 G A 10: 126,723,431 (GRCm39) H224Y probably benign Het
Ccpg1 A G 9: 72,919,638 (GRCm39) T418A probably benign Het
Col27a1 T C 4: 63,142,519 (GRCm39) I69T probably damaging Het
Cspp1 T C 1: 10,147,422 (GRCm39) S328P probably benign Het
Cttnbp2nl C T 3: 104,918,655 (GRCm39) E62K probably damaging Het
Cyp2c39 T C 19: 39,525,246 (GRCm39) F183S probably damaging Het
Dync2li1 T C 17: 84,955,078 (GRCm39) S246P probably damaging Het
Ext2 A G 2: 93,592,965 (GRCm39) I413T probably damaging Het
Fam174a T C 1: 95,241,951 (GRCm39) V137A probably damaging Het
Flg T A 3: 93,186,782 (GRCm39) V78E probably damaging Het
Fn3krp C A 11: 121,316,418 (GRCm39) H111N probably damaging Het
Focad T C 4: 88,260,441 (GRCm39) I899T unknown Het
Foxq1 T C 13: 31,743,491 (GRCm39) Y198H probably damaging Het
Gm21060 A T 19: 61,285,449 (GRCm39) M20K probably benign Het
Kif16b A T 2: 142,691,832 (GRCm39) N217K probably damaging Het
Klkb1 A G 8: 45,736,252 (GRCm39) Y162H probably benign Het
Kntc1 T A 5: 123,927,072 (GRCm39) probably null Het
Madd C T 2: 90,973,866 (GRCm39) probably null Het
Mast2 T A 4: 116,183,295 (GRCm39) H258L probably damaging Het
Musk T C 4: 58,367,576 (GRCm39) V598A probably damaging Het
Nexn T A 3: 151,943,912 (GRCm39) Q539L probably damaging Het
Nf2 T C 11: 4,758,262 (GRCm39) K130E possibly damaging Het
Nlrp14 A T 7: 106,781,024 (GRCm39) I74F probably benign Het
Omg T C 11: 79,393,784 (GRCm39) I25V probably benign Het
Or8b54 T G 9: 38,687,073 (GRCm39) I174S possibly damaging Het
Parp4 A G 14: 56,844,990 (GRCm39) D627G probably damaging Het
Pdia6 A G 12: 17,327,214 (GRCm39) E126G probably benign Het
Ppp1r2 T A 16: 31,079,418 (GRCm39) D127V possibly damaging Het
Pramel17 T A 4: 101,694,411 (GRCm39) E157D probably damaging Het
Rgs22 A G 15: 36,100,176 (GRCm39) S304P probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Ryr2 T C 13: 11,674,993 (GRCm39) Y3378C probably damaging Het
Shoc1 T C 4: 59,099,345 (GRCm39) N116D probably benign Het
Slitrk5 GACTAC GACTACTAC 14: 111,917,248 (GRCm39) probably benign Het
Smurf2 T C 11: 106,759,330 (GRCm39) probably null Het
Tanc1 T C 2: 59,672,375 (GRCm39) F1348L probably damaging Het
Tars3 A T 7: 65,336,184 (GRCm39) probably null Het
Tmem213 A T 6: 38,091,551 (GRCm39) S52C probably damaging Het
Ttn T C 2: 76,749,778 (GRCm39) D3757G probably benign Het
Usp16 C T 16: 87,261,686 (GRCm39) P101S possibly damaging Het
Usp19 G A 9: 108,379,140 (GRCm39) M1318I probably damaging Het
Vmn1r75 G A 7: 11,614,966 (GRCm39) A233T probably damaging Het
Vsir A T 10: 60,193,857 (GRCm39) N107Y probably damaging Het
Zfp160 T C 17: 21,246,707 (GRCm39) V419A probably benign Het
Zfp808 A T 13: 62,320,136 (GRCm39) H455L probably benign Het
Other mutations in Or56b35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01862:Or56b35 APN 7 104,963,439 (GRCm39) missense probably damaging 0.99
R0320:Or56b35 UTSW 7 104,963,861 (GRCm39) missense probably benign 0.24
R0533:Or56b35 UTSW 7 104,963,579 (GRCm39) missense probably benign 0.05
R3499:Or56b35 UTSW 7 104,963,607 (GRCm39) missense probably damaging 1.00
R5326:Or56b35 UTSW 7 104,963,646 (GRCm39) missense probably damaging 1.00
R5424:Or56b35 UTSW 7 104,963,778 (GRCm39) missense possibly damaging 0.96
R5595:Or56b35 UTSW 7 104,963,213 (GRCm39) start codon destroyed probably benign
R5905:Or56b35 UTSW 7 104,964,158 (GRCm39) missense probably benign
R6139:Or56b35 UTSW 7 104,963,453 (GRCm39) missense probably damaging 0.99
R6259:Or56b35 UTSW 7 104,963,264 (GRCm39) missense probably benign 0.01
R7471:Or56b35 UTSW 7 104,963,712 (GRCm39) missense probably damaging 1.00
R7747:Or56b35 UTSW 7 104,963,654 (GRCm39) missense probably damaging 0.99
R9282:Or56b35 UTSW 7 104,963,781 (GRCm39) missense probably benign
R9769:Or56b35 UTSW 7 104,963,933 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCACAAGATTATGGGTGAGAC -3'
(R):5'- ATGGTCTTGGCATCAAACCAC -3'

Sequencing Primer
(F):5'- TGGGTGAGACCTATATCACTACC -3'
(R):5'- CCACAAGATGGCCAGTATTTTGG -3'
Posted On 2018-02-28