Incidental Mutation 'R5334:Or5m13b'
ID 423388
Institutional Source Beutler Lab
Gene Symbol Or5m13b
Ensembl Gene ENSMUSG00000042863
Gene Name olfactory receptor family 5 subfamily M member 13B
Synonyms Olfr1026, MOR196-4, GA_x6K02T2Q125-47402610-47403533
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R5334 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 85753614-85754537 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85754058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 149 (Y149H)
Ref Sequence ENSEMBL: ENSMUSP00000151927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056718] [ENSMUST00000188749] [ENSMUST00000213474] [ENSMUST00000217615] [ENSMUST00000219615]
AlphaFold Q7TR90
Predicted Effect probably damaging
Transcript: ENSMUST00000056718
AA Change: Y149H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049887
Gene: ENSMUSG00000042863
AA Change: Y149H

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 6.1e-58 PFAM
Pfam:7tm_1 41 290 9e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188749
SMART Domains Protein: ENSMUSP00000139860
Gene: ENSMUSG00000058884

DomainStartEndE-ValueType
low complexity region 26 40 N/A INTRINSIC
Pfam:7tm_1 41 290 5.7e-30 PFAM
Pfam:7tm_4 139 283 7.8e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213474
Predicted Effect probably damaging
Transcript: ENSMUST00000217615
AA Change: Y149H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000219615
AA Change: Y149H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Ap4s1 C T 12: 51,785,454 (GRCm39) S142L probably benign Het
Apol11a A G 15: 77,400,953 (GRCm39) T147A probably benign Het
Aqp9 T C 9: 71,030,292 (GRCm39) probably null Het
Arhgap25 T A 6: 87,440,243 (GRCm39) N468I possibly damaging Het
Arhgef2 T A 3: 88,553,636 (GRCm39) S924R probably damaging Het
Atad3a A T 4: 155,840,146 (GRCm39) L144Q probably damaging Het
Ccbe1 T C 18: 66,216,316 (GRCm39) I136V probably damaging Het
Col24a1 C A 3: 145,167,280 (GRCm39) P1119Q possibly damaging Het
Dgkd T C 1: 87,865,989 (GRCm39) probably null Het
Dnah7a A G 1: 53,542,805 (GRCm39) I2455T probably benign Het
Dock2 T C 11: 34,178,643 (GRCm39) T1795A probably benign Het
Dpp6 A T 5: 27,914,538 (GRCm39) E541V probably benign Het
Edem1 T C 6: 108,825,793 (GRCm39) probably null Het
Fbxo41 A G 6: 85,455,465 (GRCm39) V573A probably damaging Het
Fech A C 18: 64,597,191 (GRCm39) V256G probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gal3st4 T G 5: 138,263,983 (GRCm39) K339Q probably benign Het
Gpr158 T A 2: 21,832,316 (GRCm39) S1139T probably benign Het
Gpr180 A T 14: 118,397,468 (GRCm39) S321C probably damaging Het
Grik1 CGG CGGG 16: 87,720,082 (GRCm39) probably null Het
Grin2c T G 11: 115,146,881 (GRCm39) N438T possibly damaging Het
Hcn2 T C 10: 79,562,125 (GRCm39) S374P probably damaging Het
Hmcn1 T A 1: 150,631,123 (GRCm39) I892F probably damaging Het
Ifi207 C T 1: 173,555,097 (GRCm39) V869I probably benign Het
Itgad T C 7: 127,788,458 (GRCm39) Y390H probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnj15 A G 16: 95,097,508 (GRCm39) K377E probably damaging Het
Kcnq3 A G 15: 65,897,073 (GRCm39) S276P probably damaging Het
Klhl26 T C 8: 70,904,968 (GRCm39) D280G probably damaging Het
Lmnb2 C T 10: 80,739,791 (GRCm39) V376I probably benign Het
Lrrc37 T C 11: 103,504,699 (GRCm39) Q2423R probably benign Het
Mepce T A 5: 137,784,889 (GRCm39) R29S probably benign Het
Mlh3 A G 12: 85,292,535 (GRCm39) probably null Het
Mlip T A 9: 77,150,958 (GRCm39) T33S probably damaging Het
Msantd5f6 T A 4: 73,321,754 (GRCm39) M94L probably benign Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Ncapg2 T C 12: 116,390,257 (GRCm39) I402T probably damaging Het
Or2aj6 C G 16: 19,443,241 (GRCm39) G203A probably benign Het
Pcsk5 T C 19: 17,439,215 (GRCm39) D1301G probably benign Het
Pilrb1 T C 5: 137,853,165 (GRCm39) M213V probably benign Het
Plxdc1 T C 11: 97,846,931 (GRCm39) T163A possibly damaging Het
Pnpla2 T C 7: 141,039,406 (GRCm39) L373P probably damaging Het
Prickle2 A G 6: 92,402,665 (GRCm39) Y52H probably damaging Het
Rnf220 A G 4: 117,129,548 (GRCm39) C294R probably damaging Het
Slc12a1 A G 2: 125,059,809 (GRCm39) D903G probably damaging Het
Slc34a1 T C 13: 24,003,034 (GRCm39) F228S probably damaging Het
Sptbn1 T C 11: 30,087,364 (GRCm39) E1025G possibly damaging Het
Sult1c2 T G 17: 54,271,758 (GRCm39) D143A probably damaging Het
Taar1 T G 10: 23,796,443 (GRCm39) I47R probably damaging Het
Tctn3 G T 19: 40,591,266 (GRCm39) Q514K probably benign Het
Tg T C 15: 66,549,904 (GRCm39) F222S probably damaging Het
Tmem236 C A 2: 14,223,871 (GRCm39) T220K possibly damaging Het
Trim50 C T 5: 135,396,330 (GRCm39) T426M probably damaging Het
Vmn1r237 T C 17: 21,534,942 (GRCm39) F222L probably benign Het
Wrap73 G A 4: 154,229,731 (GRCm39) R34Q probably damaging Het
Zfp85 T C 13: 67,899,803 (GRCm39) Y52C probably damaging Het
Other mutations in Or5m13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01701:Or5m13b APN 2 85,754,421 (GRCm39) missense possibly damaging 0.81
PIT4151001:Or5m13b UTSW 2 85,754,386 (GRCm39) missense probably damaging 1.00
R0147:Or5m13b UTSW 2 85,754,362 (GRCm39) missense possibly damaging 0.61
R0601:Or5m13b UTSW 2 85,753,722 (GRCm39) missense probably benign 0.01
R0899:Or5m13b UTSW 2 85,753,731 (GRCm39) missense probably benign
R1728:Or5m13b UTSW 2 85,754,466 (GRCm39) missense possibly damaging 0.48
R2004:Or5m13b UTSW 2 85,753,939 (GRCm39) splice site probably null
R2020:Or5m13b UTSW 2 85,754,087 (GRCm39) missense probably benign
R2396:Or5m13b UTSW 2 85,754,269 (GRCm39) missense probably benign 0.00
R2519:Or5m13b UTSW 2 85,753,951 (GRCm39) missense probably damaging 1.00
R3153:Or5m13b UTSW 2 85,754,074 (GRCm39) missense probably benign
R4696:Or5m13b UTSW 2 85,749,215 (GRCm39) splice site probably null
R5034:Or5m13b UTSW 2 85,753,891 (GRCm39) missense probably damaging 0.99
R5221:Or5m13b UTSW 2 85,754,493 (GRCm39) missense probably damaging 1.00
R6041:Or5m13b UTSW 2 85,753,735 (GRCm39) missense probably damaging 1.00
R7602:Or5m13b UTSW 2 85,754,146 (GRCm39) missense probably damaging 1.00
R8075:Or5m13b UTSW 2 85,754,470 (GRCm39) missense probably benign 0.18
R8697:Or5m13b UTSW 2 85,754,200 (GRCm39) missense possibly damaging 0.77
R8971:Or5m13b UTSW 2 85,754,328 (GRCm39) missense probably damaging 1.00
R9237:Or5m13b UTSW 2 85,754,267 (GRCm39) nonsense probably null
R9347:Or5m13b UTSW 2 85,753,819 (GRCm39) missense probably damaging 1.00
Z1088:Or5m13b UTSW 2 85,754,142 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTGCCCCTCAGATGTTGG -3'
(R):5'- GAACAGGTGAGGTTGGATCC -3'

Sequencing Primer
(F):5'- GCCCCTCAGATGTTGGTTAAC -3'
(R):5'- TGAGGTTGGATCCTGCCAC -3'
Posted On 2016-08-04