Incidental Mutation 'R3809:Or56b1'
ID 275101
Institutional Source Beutler Lab
Gene Symbol Or56b1
Ensembl Gene ENSMUSG00000073923
Gene Name olfactory receptor family 56 subfamily B member 1
Synonyms MOR40-13, GA_x6K02T2PBJ9-7263864-7264823, Olfr657
MMRRC Submission 040766-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R3809 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 104284883-104285842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104285540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 220 (I220L)
Ref Sequence ENSEMBL: ENSMUSP00000150070 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098171] [ENSMUST00000213297] [ENSMUST00000215454]
AlphaFold Q7TRP7
Predicted Effect possibly damaging
Transcript: ENSMUST00000098171
AA Change: I220L

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095773
Gene: ENSMUSG00000073923
AA Change: I220L

DomainStartEndE-ValueType
Pfam:7tm_4 37 315 6.2e-74 PFAM
Pfam:7TM_GPCR_Srsx 40 312 1.2e-8 PFAM
Pfam:7tm_1 47 297 9.3e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213297
AA Change: I220L

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215454
AA Change: I220L

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
3425401B19Rik T C 14: 32,385,650 (GRCm39) Y105C possibly damaging Het
Aoc1l3 C T 6: 48,964,928 (GRCm39) P312L possibly damaging Het
Apol7e A T 15: 77,602,262 (GRCm39) T287S probably benign Het
Arhgap12 A T 18: 6,037,057 (GRCm39) N561K probably benign Het
Armc3 G T 2: 19,305,476 (GRCm39) A757S probably damaging Het
Baz2b A T 2: 59,799,240 (GRCm39) S295T probably benign Het
Brd4 T A 17: 32,430,244 (GRCm39) K686N possibly damaging Het
Btnl6 T C 17: 34,727,202 (GRCm39) T443A probably benign Het
Cacna1g T C 11: 94,306,922 (GRCm39) T1801A probably damaging Het
Celsr2 G A 3: 108,310,555 (GRCm39) T1509I possibly damaging Het
Cers1 A G 8: 70,782,660 (GRCm39) D10G possibly damaging Het
Cntnap3 A G 13: 64,929,618 (GRCm39) V527A probably damaging Het
Cog1 G T 11: 113,545,836 (GRCm39) M370I probably benign Het
Col6a6 C G 9: 105,657,891 (GRCm39) V774L probably damaging Het
Csf1r T A 18: 61,245,836 (GRCm39) S264R probably benign Het
Ctnna2 A T 6: 76,931,740 (GRCm39) V620D probably damaging Het
Eif2b4 A G 5: 31,348,512 (GRCm39) S88P possibly damaging Het
Frmd4b G A 6: 97,300,690 (GRCm39) L214F possibly damaging Het
Fstl1 T A 16: 37,647,113 (GRCm39) L161Q probably damaging Het
Hdac1 A G 4: 129,418,113 (GRCm39) F94S probably damaging Het
Hlf T C 11: 90,278,929 (GRCm39) D45G probably benign Het
Hps3 A T 3: 20,072,976 (GRCm39) M501K probably damaging Het
Ighv14-4 A G 12: 114,140,174 (GRCm39) Y79H probably damaging Het
Ip6k1 T A 9: 107,923,086 (GRCm39) V406D probably damaging Het
Iqcf1 T C 9: 106,379,077 (GRCm39) S29P probably benign Het
Itga11 A G 9: 62,678,664 (GRCm39) T944A probably benign Het
Kcnj12 A G 11: 60,961,103 (GRCm39) N467S probably benign Het
Klhdc3 T A 17: 46,988,858 (GRCm39) N111Y possibly damaging Het
Kmt2c T C 5: 25,614,136 (GRCm39) R195G possibly damaging Het
Lin9 A G 1: 180,486,676 (GRCm39) I81V probably null Het
Lrp2 T C 2: 69,331,892 (GRCm39) D1621G probably damaging Het
Med15 C T 16: 17,473,598 (GRCm39) probably benign Het
Neb A G 2: 52,146,801 (GRCm39) I2821T possibly damaging Het
Or14j6 T C 17: 38,214,464 (GRCm39) V9A probably benign Het
Or2a25 A T 6: 42,889,271 (GRCm39) K271N probably damaging Het
Or4c112 G T 2: 88,853,770 (GRCm39) H192Q probably benign Het
Or8b3b C T 9: 38,584,159 (GRCm39) V207I probably benign Het
Paxip1 A G 5: 27,977,027 (GRCm39) probably benign Het
Pfas T C 11: 68,880,779 (GRCm39) probably benign Het
Pfdn1 C T 18: 36,584,145 (GRCm39) G63D probably damaging Het
Pgghg T C 7: 140,525,208 (GRCm39) F405L probably damaging Het
Plcd3 T C 11: 102,992,209 (GRCm39) M50V probably null Het
Plekha8 C A 6: 54,596,334 (GRCm39) S198R probably benign Het
Ppp4c C T 7: 126,386,499 (GRCm39) G166D probably damaging Het
Rassf2 T C 2: 131,840,180 (GRCm39) probably null Het
Rnf217 T A 10: 31,379,804 (GRCm39) I473F possibly damaging Het
Sec16a G C 2: 26,331,825 (GRCm39) N63K possibly damaging Het
Sik3 A G 9: 46,130,784 (GRCm39) D1240G probably benign Het
Slamf1 A G 1: 171,625,745 (GRCm39) D307G probably null Het
Slc2a3 A G 6: 122,709,388 (GRCm39) I337T probably benign Het
Tent4a A G 13: 69,661,115 (GRCm39) V51A probably damaging Het
Tinag C T 9: 76,859,187 (GRCm39) D474N probably benign Het
Ublcp1 A G 11: 44,349,109 (GRCm39) F242L probably benign Het
Ucp1 C A 8: 84,017,270 (GRCm39) A20D probably damaging Het
Ugt1a7c C T 1: 88,023,104 (GRCm39) R88W possibly damaging Het
Wipf3 A G 6: 54,458,780 (GRCm39) D45G probably damaging Het
Zfp592 G A 7: 80,674,280 (GRCm39) A415T probably benign Het
Other mutations in Or56b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01791:Or56b1 APN 7 104,285,682 (GRCm39) missense possibly damaging 0.75
IGL01815:Or56b1 APN 7 104,285,552 (GRCm39) missense probably damaging 0.99
IGL01831:Or56b1 APN 7 104,285,267 (GRCm39) missense probably damaging 0.99
IGL02285:Or56b1 APN 7 104,284,932 (GRCm39) missense probably benign 0.06
R1529:Or56b1 UTSW 7 104,285,696 (GRCm39) missense probably benign 0.01
R1775:Or56b1 UTSW 7 104,285,366 (GRCm39) missense probably benign 0.01
R2356:Or56b1 UTSW 7 104,285,834 (GRCm39) nonsense probably null
R4011:Or56b1 UTSW 7 104,285,555 (GRCm39) missense probably benign
R4206:Or56b1 UTSW 7 104,285,356 (GRCm39) missense possibly damaging 0.52
R4520:Or56b1 UTSW 7 104,285,376 (GRCm39) missense probably damaging 0.99
R4551:Or56b1 UTSW 7 104,285,631 (GRCm39) missense probably damaging 1.00
R6394:Or56b1 UTSW 7 104,285,234 (GRCm39) missense possibly damaging 0.78
R6394:Or56b1 UTSW 7 104,284,909 (GRCm39) missense possibly damaging 0.59
R6477:Or56b1 UTSW 7 104,284,886 (GRCm39) missense probably benign 0.00
R6727:Or56b1 UTSW 7 104,285,094 (GRCm39) missense probably damaging 0.99
R7554:Or56b1 UTSW 7 104,285,733 (GRCm39) missense probably benign
R8435:Or56b1 UTSW 7 104,285,657 (GRCm39) missense probably benign 0.17
R8557:Or56b1 UTSW 7 104,285,103 (GRCm39) missense possibly damaging 0.46
R9021:Or56b1 UTSW 7 104,285,291 (GRCm39) missense probably benign 0.01
R9023:Or56b1 UTSW 7 104,285,291 (GRCm39) missense probably benign 0.01
R9024:Or56b1 UTSW 7 104,285,291 (GRCm39) missense probably benign 0.01
R9072:Or56b1 UTSW 7 104,285,291 (GRCm39) missense probably benign 0.01
R9072:Or56b1 UTSW 7 104,285,291 (GRCm39) missense probably benign 0.01
R9073:Or56b1 UTSW 7 104,285,291 (GRCm39) missense probably benign 0.01
R9074:Or56b1 UTSW 7 104,285,291 (GRCm39) missense probably benign 0.01
R9076:Or56b1 UTSW 7 104,285,291 (GRCm39) missense probably benign 0.01
R9077:Or56b1 UTSW 7 104,285,618 (GRCm39) missense probably damaging 1.00
R9077:Or56b1 UTSW 7 104,285,291 (GRCm39) missense probably benign 0.01
X0065:Or56b1 UTSW 7 104,285,401 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- AGCCACACTGTTTATGGTGC -3'
(R):5'- TCACATTGAGCAAAACTGGGATC -3'

Sequencing Primer
(F):5'- CACACTGTTTATGGTGCTGAGAAATG -3'
(R):5'- ACTGGGATCAAGGTGGCC -3'
Posted On 2015-04-02