Incidental Mutation 'IGL02584:Or5m11b'
ID 299459
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5m11b
Ensembl Gene ENSMUSG00000059873
Gene Name olfactory receptor family 5 subfamily M member 11B
Synonyms GA_x6K02T2Q125-47454152-47455126, Olfr1029, MOR198-1P
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL02584
Quality Score
Status
Chromosome 2
Chromosomal Location 85805557-85806617 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 85806219 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 211 (L211F)
Ref Sequence ENSEMBL: ENSMUSP00000150637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056849] [ENSMUST00000082191] [ENSMUST00000217244]
AlphaFold A2ATE0
Predicted Effect probably benign
Transcript: ENSMUST00000056849
SMART Domains Protein: ENSMUSP00000053309
Gene: ENSMUSG00000044923

DomainStartEndE-ValueType
Pfam:7tm_4 37 314 2.4e-58 PFAM
Pfam:7tm_1 47 296 3.2e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000082191
AA Change: L211F

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080828
Gene: ENSMUSG00000059873
AA Change: L211F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 4.2e-56 PFAM
Pfam:7tm_1 41 290 2.1e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217244
AA Change: L211F

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik A T 16: 88,971,744 (GRCm39) Y22F unknown Het
Adgrb3 A G 1: 25,544,065 (GRCm39) L312P probably damaging Het
Anpep T C 7: 79,475,141 (GRCm39) probably benign Het
Arhgef6 T G X: 56,291,738 (GRCm39) probably benign Het
Catsperg1 T C 7: 28,884,146 (GRCm39) D989G probably damaging Het
Ccnj T A 19: 40,833,185 (GRCm39) V121E probably benign Het
Cdyl T C 13: 35,867,769 (GRCm39) L15P probably benign Het
Cnrip1 T A 11: 17,028,536 (GRCm39) M156K probably damaging Het
Cryga T A 1: 65,142,175 (GRCm39) S73C probably benign Het
Dennd4a A G 9: 64,758,580 (GRCm39) T240A probably damaging Het
Eml6 A G 11: 29,699,387 (GRCm39) S1789P probably damaging Het
Esr2 A T 12: 76,192,036 (GRCm39) W331R probably damaging Het
Fbh1 A T 2: 11,764,769 (GRCm39) L455H probably benign Het
Gm21698 T A 5: 26,192,391 (GRCm39) E65V probably damaging Het
Grm8 G T 6: 27,762,438 (GRCm39) F262L probably benign Het
Haus3 A T 5: 34,323,602 (GRCm39) L336* probably null Het
Hfm1 A C 5: 107,026,528 (GRCm39) probably null Het
Hgfac T C 5: 35,201,305 (GRCm39) probably benign Het
Ighv1-22 T C 12: 114,709,942 (GRCm39) E101G probably benign Het
Impg2 A G 16: 56,085,374 (GRCm39) E1027G probably damaging Het
Lypd5 A T 7: 24,052,993 (GRCm39) T217S possibly damaging Het
Myrf A G 19: 10,189,587 (GRCm39) probably benign Het
Mzf1 A G 7: 12,786,744 (GRCm39) W109R probably damaging Het
Ndufb4 A T 16: 37,469,532 (GRCm39) probably benign Het
Ntn1 A G 11: 68,168,356 (GRCm39) V367A probably damaging Het
Oprk1 A G 1: 5,668,827 (GRCm39) K91R probably damaging Het
Pdlim1 A G 19: 40,231,844 (GRCm39) probably null Het
Ppp1r11 G A 17: 37,260,781 (GRCm39) R61C probably damaging Het
Racgap1 T C 15: 99,521,515 (GRCm39) D547G probably benign Het
Sema4b A G 7: 79,874,736 (GRCm39) T709A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Supt5 T C 7: 28,025,592 (GRCm39) H218R probably benign Het
Tmem132c T A 5: 127,582,063 (GRCm39) I426N probably damaging Het
Tpcn1 T C 5: 120,677,097 (GRCm39) N696S probably damaging Het
Ttn T C 2: 76,566,506 (GRCm39) N26383S possibly damaging Het
Vax2 A G 6: 83,688,495 (GRCm39) T73A probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Or5m11b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02020:Or5m11b APN 2 85,805,579 (GRCm39) utr 5 prime probably benign
IGL02126:Or5m11b APN 2 85,806,517 (GRCm39) missense probably benign 0.00
IGL03410:Or5m11b APN 2 85,805,764 (GRCm39) missense probably damaging 0.99
R1466:Or5m11b UTSW 2 85,806,339 (GRCm39) missense probably damaging 1.00
R1466:Or5m11b UTSW 2 85,806,339 (GRCm39) missense probably damaging 1.00
R1499:Or5m11b UTSW 2 85,806,372 (GRCm39) missense possibly damaging 0.62
R1584:Or5m11b UTSW 2 85,806,339 (GRCm39) missense probably damaging 1.00
R2925:Or5m11b UTSW 2 85,806,125 (GRCm39) nonsense probably null
R2970:Or5m11b UTSW 2 85,806,454 (GRCm39) missense possibly damaging 0.75
R4571:Or5m11b UTSW 2 85,806,175 (GRCm39) missense probably damaging 0.97
R5533:Or5m11b UTSW 2 85,805,797 (GRCm39) missense possibly damaging 0.78
R5654:Or5m11b UTSW 2 85,806,500 (GRCm39) missense probably benign 0.00
R5827:Or5m11b UTSW 2 85,805,650 (GRCm39) missense probably benign 0.00
R5967:Or5m11b UTSW 2 85,806,535 (GRCm39) missense probably benign 0.01
R6291:Or5m11b UTSW 2 85,805,926 (GRCm39) missense probably damaging 1.00
R6735:Or5m11b UTSW 2 85,805,778 (GRCm39) missense possibly damaging 0.81
R6897:Or5m11b UTSW 2 85,805,700 (GRCm39) missense possibly damaging 0.45
R7053:Or5m11b UTSW 2 85,806,358 (GRCm39) missense possibly damaging 0.64
R7163:Or5m11b UTSW 2 85,805,932 (GRCm39) missense probably damaging 1.00
R7358:Or5m11b UTSW 2 85,805,780 (GRCm39) missense possibly damaging 0.81
R8047:Or5m11b UTSW 2 85,806,271 (GRCm39) missense possibly damaging 0.52
R8271:Or5m11b UTSW 2 85,806,085 (GRCm39) missense probably benign 0.40
R8271:Or5m11b UTSW 2 85,805,766 (GRCm39) missense probably damaging 1.00
R8364:Or5m11b UTSW 2 85,806,358 (GRCm39) missense possibly damaging 0.64
R9100:Or5m11b UTSW 2 85,806,096 (GRCm39) missense probably benign 0.00
R9190:Or5m11b UTSW 2 85,805,884 (GRCm39) missense possibly damaging 0.66
R9646:Or5m11b UTSW 2 85,806,446 (GRCm39) missense probably benign 0.18
Posted On 2015-04-16