Incidental Mutation 'R0575:Or2y1b'
ID 201508
Institutional Source Beutler Lab
Gene Symbol Or2y1b
Ensembl Gene ENSMUSG00000100923
Gene Name olfactory receptor family 2 subfamily Y member 1B
Synonyms L45, MOR256-55, Olfr10, GA_x6K02T2QP88-6117098-6116163
MMRRC Submission 038765-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R0575 (G1)
Quality Score 77
Status Validated
Chromosome 11
Chromosomal Location 49208375-49209310 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 49208880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 169 (C169Y)
Ref Sequence ENSEMBL: ENSMUSP00000149724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000187570] [ENSMUST00000215671] [ENSMUST00000217290]
AlphaFold Q60883
Predicted Effect probably damaging
Transcript: ENSMUST00000074358
AA Change: C169Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073963
Gene: ENSMUSG00000057168
AA Change: C169Y

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 9.5e-49 PFAM
Pfam:7TM_GPCR_Srsx 35 222 4.7e-7 PFAM
Pfam:7tm_1 41 289 6.9e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000187570
AA Change: C169Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139744
Gene: ENSMUSG00000100923
AA Change: C169Y

DomainStartEndE-ValueType
low complexity region 23 34 N/A INTRINSIC
Pfam:7TM_GPCR_Srsx 35 222 4.7e-7 PFAM
Pfam:7tm_1 41 289 1.3e-33 PFAM
Pfam:7tm_4 139 282 4.6e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215671
Predicted Effect probably damaging
Transcript: ENSMUST00000217290
AA Change: C169Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.3371 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (30/30)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik C T 14: 54,828,709 (GRCm39) S264N possibly damaging Het
Acsm1 G A 7: 119,258,424 (GRCm39) probably null Het
Adsl C T 15: 80,847,886 (GRCm39) A93V probably damaging Het
Agbl5 A T 5: 31,051,798 (GRCm39) S539C probably damaging Het
Aggf1 T A 13: 95,504,905 (GRCm39) T285S probably benign Het
Anapc11 A G 11: 120,490,192 (GRCm39) D36G probably benign Het
Ankrd44 G A 1: 54,801,469 (GRCm39) A286V probably damaging Het
Atf7ip2 G T 16: 10,055,075 (GRCm39) G281C probably damaging Het
Birc6 A G 17: 74,996,232 (GRCm39) K4475E probably damaging Het
Ccbe1 T A 18: 66,227,066 (GRCm39) probably benign Het
Cyp26b1 A G 6: 84,552,288 (GRCm39) probably benign Het
Dcun1d1 T C 3: 35,951,934 (GRCm39) probably benign Het
Dtwd2 C A 18: 49,831,539 (GRCm39) C156F probably damaging Het
Efcab6 T G 15: 83,851,901 (GRCm39) I326L probably benign Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
F5 C A 1: 164,003,813 (GRCm39) Q203K probably damaging Het
Frs3 A G 17: 48,014,648 (GRCm39) H447R possibly damaging Het
Gmds T G 13: 32,124,566 (GRCm39) Q264P probably damaging Het
Golgb1 T A 16: 36,739,171 (GRCm39) D2503E probably benign Het
Lgi4 G A 7: 30,759,518 (GRCm39) G25R probably benign Het
Or5b107 T A 19: 13,142,751 (GRCm39) Y124* probably null Het
Pcdh20 A G 14: 88,705,048 (GRCm39) S751P probably damaging Het
Pcnx4 A G 12: 72,614,010 (GRCm39) T652A probably benign Het
Pom121l2 T G 13: 22,168,338 (GRCm39) F870V probably damaging Het
Prob1 T C 18: 35,787,774 (GRCm39) D160G possibly damaging Het
Spa17 T C 9: 37,514,689 (GRCm39) K133E probably damaging Het
Strbp T A 2: 37,530,885 (GRCm39) D123V possibly damaging Het
Tnxb A G 17: 34,936,180 (GRCm39) T3586A possibly damaging Het
Zfp518a T A 19: 40,900,759 (GRCm39) H229Q probably damaging Het
Other mutations in Or2y1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01349:Or2y1b APN 11 49,209,127 (GRCm39) nonsense probably null 0.00
IGL02283:Or2y1b APN 11 49,209,162 (GRCm39) missense probably benign
IGL03010:Or2y1b APN 11 49,208,973 (GRCm39) missense probably damaging 0.99
R1430:Or2y1b UTSW 11 49,208,928 (GRCm39) splice site probably null
R1891:Or2y1b UTSW 11 49,208,684 (GRCm39) missense probably benign 0.00
R2509:Or2y1b UTSW 11 49,209,048 (GRCm39) missense probably damaging 0.97
R2511:Or2y1b UTSW 11 49,209,048 (GRCm39) missense probably damaging 0.97
R4942:Or2y1b UTSW 11 49,208,375 (GRCm39) start codon destroyed probably null 0.99
R5080:Or2y1b UTSW 11 49,208,914 (GRCm39) missense probably benign 0.03
R5413:Or2y1b UTSW 11 49,209,240 (GRCm39) missense probably damaging 1.00
R5843:Or2y1b UTSW 11 49,209,076 (GRCm39) missense probably benign 0.34
R6354:Or2y1b UTSW 11 49,208,465 (GRCm39) missense probably damaging 0.98
R6605:Or2y1b UTSW 11 49,208,541 (GRCm39) missense probably damaging 0.97
R8005:Or2y1b UTSW 11 49,208,968 (GRCm39) missense probably benign 0.12
R8284:Or2y1b UTSW 11 49,209,002 (GRCm39) missense probably benign
R8902:Or2y1b UTSW 11 49,209,206 (GRCm39) missense probably benign 0.03
R9003:Or2y1b UTSW 11 49,209,155 (GRCm39) missense possibly damaging 0.66
R9431:Or2y1b UTSW 11 49,208,459 (GRCm39) missense probably benign
R9696:Or2y1b UTSW 11 49,208,390 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CATCATTGCTCTCTCCCGAACAGAC -3'
(R):5'- TACTGACTTGACCTTCAGCACCGC -3'

Sequencing Primer
(F):5'- CCATCAGCTATGGAGGCTGTG -3'
(R):5'- ACCGCCCTAGCAATCTGTG -3'
Posted On 2014-06-16