Incidental Mutation 'R7602:Or5m13b'
ID 588043
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
MMRRC Submission 045674-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R7602 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 85753614-85754537 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85754146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 178 (Y178F)
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: Y178F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049887
Gene: ENSMUSG00000042863
AA Change: Y178F

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: Y178F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000219615
AA Change: Y178F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (58/58)
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
1700025G04Rik A T 1: 151,856,266 (GRCm39) Y34N probably damaging Het
A2m T C 6: 121,618,966 (GRCm39) V237A probably damaging Het
A2m A T 6: 121,647,895 (GRCm39) D1129V possibly damaging Het
Aadacl2fm3 T C 3: 59,784,697 (GRCm39) I390T probably benign Het
Abca7 A G 10: 79,833,846 (GRCm39) probably null Het
Adam34l C T 8: 44,079,703 (GRCm39) G174R probably damaging Het
Ap3m2 T C 8: 23,282,770 (GRCm39) N256S probably benign Het
Atr C T 9: 95,789,436 (GRCm39) H1531Y possibly damaging Het
Carmil3 C T 14: 55,738,965 (GRCm39) A873V probably null Het
Casp8 A C 1: 58,872,898 (GRCm39) K258T probably benign Het
Cast A G 13: 74,885,084 (GRCm39) S222P probably benign Het
Cpsf7 C T 19: 10,512,737 (GRCm39) P274S probably damaging Het
Ddx24 A T 12: 103,382,519 (GRCm39) L688* probably null Het
Ddx59 A G 1: 136,361,559 (GRCm39) I475V probably benign Het
Dhx29 T A 13: 113,081,093 (GRCm39) S376T possibly damaging Het
Dhx57 G T 17: 80,582,290 (GRCm39) N438K probably benign Het
Dlk1 T A 12: 109,421,551 (GRCm39) probably null Het
Efcab15 T C 11: 103,091,004 (GRCm39) M114V probably benign Het
Epha6 T C 16: 59,595,931 (GRCm39) D920G probably damaging Het
Exo5 A T 4: 120,778,818 (GRCm39) V349E probably benign Het
Fam234b T C 6: 135,202,241 (GRCm39) V321A possibly damaging Het
Gbp3 A G 3: 142,274,822 (GRCm39) E383G probably benign Het
Gga2 T C 7: 121,596,553 (GRCm39) N408S probably benign Het
Gse1 T C 8: 121,296,043 (GRCm39) V532A unknown Het
Hnrnpul2 T C 19: 8,808,673 (GRCm39) Y712H probably damaging Het
Hpca T C 4: 129,014,019 (GRCm39) probably benign Het
Ifitm3 A G 7: 140,590,372 (GRCm39) F63L probably damaging Het
Inava G T 1: 136,153,135 (GRCm39) C252* probably null Het
Kank1 A T 19: 25,399,525 (GRCm39) T940S probably benign Het
Klhl9 C A 4: 88,640,646 (GRCm39) probably benign Het
Krt36 T C 11: 99,993,786 (GRCm39) M351V probably benign Het
Mthfd2 T C 6: 83,288,830 (GRCm39) N125D probably benign Het
Muc4 C G 16: 32,575,221 (GRCm39) Q1269E probably benign Het
Ncoa2 A G 1: 13,247,350 (GRCm39) S358P possibly damaging Het
Nmnat1 T C 4: 149,557,808 (GRCm39) H78R probably benign Het
Or10s1 T G 9: 39,986,455 (GRCm39) L288R probably damaging Het
Or5k1 T C 16: 58,617,343 (GRCm39) I289V possibly damaging Het
Or9r3 A G 10: 129,948,179 (GRCm39) M160T probably benign Het
Pabpc4 A T 4: 123,186,685 (GRCm39) D302V possibly damaging Het
Pgap1 A T 1: 54,582,345 (GRCm39) S167R probably damaging Het
Phf12 T C 11: 77,914,109 (GRCm39) L517P probably benign Het
Rcan2 A G 17: 44,328,689 (GRCm39) D86G probably benign Het
Ryk T C 9: 102,775,715 (GRCm39) Y442H probably damaging Het
Scfd2 G T 5: 74,623,271 (GRCm39) Q421K probably benign Het
Sirpa G T 2: 129,451,072 (GRCm39) V111F probably damaging Het
Skint4 A T 4: 111,975,468 (GRCm39) T143S possibly damaging Het
Slc12a8 C A 16: 33,445,494 (GRCm39) H463N probably benign Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Sptlc2 A G 12: 87,388,463 (GRCm39) Y340H probably damaging Het
Ssc5d T A 7: 4,945,745 (GRCm39) W926R possibly damaging Het
Tgfa A G 6: 86,246,944 (GRCm39) E82G probably damaging Het
Thrsp A G 7: 97,066,514 (GRCm39) I66T probably damaging Het
Ttn T C 2: 76,681,988 (GRCm39) E1003G unknown Het
Tube1 A T 10: 39,018,262 (GRCm39) H113L probably benign Het
Uri1 A G 7: 37,681,053 (GRCm39) V117A probably benign Het
Ush2a G A 1: 188,380,606 (GRCm39) C2305Y probably damaging Het
Zbtb7a T G 10: 80,980,010 (GRCm39) V68G probably damaging Het
Zfr T A 15: 12,159,763 (GRCm39) D686E possibly damaging Het
Zscan4f G A 7: 11,135,308 (GRCm39) S238N possibly 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
R5334:Or5m13b UTSW 2 85,754,058 (GRCm39) missense probably damaging 1.00
R6041:Or5m13b UTSW 2 85,753,735 (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'- TGCCCTGGTGATCACAGACTAC -3'
(R):5'- CCACAAGTAGAGAAGGCCTTC -3'

Sequencing Primer
(F):5'- CCCTGGTGATCACAGACTACTATATG -3'
(R):5'- CTGCCTCCCCTCTGCAG -3'
Posted On 2019-10-24