Incidental Mutation 'R4748:Or5d36'
ID 357257
Institutional Source Beutler Lab
Gene Symbol Or5d36
Ensembl Gene ENSMUSG00000075137
Gene Name olfactory receptor family 5 subfamily D member 36
Synonyms Olfr1163, MOR174-8, GA_x6K02T2Q125-49563265-49562315
MMRRC Submission 042030-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R4748 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 87900709-87901751 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 87900956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 257 (I257L)
Ref Sequence ENSEMBL: ENSMUSP00000149399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099835] [ENSMUST00000215268]
AlphaFold Q8VFR4
Predicted Effect probably benign
Transcript: ENSMUST00000099835
AA Change: I257L

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097423
Gene: ENSMUSG00000075137
AA Change: I257L

DomainStartEndE-ValueType
Pfam:7tm_4 33 310 1.2e-44 PFAM
Pfam:7tm_1 43 292 2.3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215268
AA Change: I257L

PolyPhen 2 Score 0.441 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik T A 1: 138,784,394 (GRCm39) E54D possibly damaging Het
Abcb6 C A 1: 75,154,002 (GRCm39) G367W probably damaging Het
Asprv1 A G 6: 86,605,405 (GRCm39) M84V probably damaging Het
Aspscr1 T C 11: 120,592,333 (GRCm39) V291A probably damaging Het
B4galnt4 T C 7: 140,651,633 (GRCm39) F980L probably damaging Het
Bpi G A 2: 158,113,941 (GRCm39) V280I possibly damaging Het
Bptf T C 11: 106,986,706 (GRCm39) D581G probably damaging Het
Cap2 T A 13: 46,793,302 (GRCm39) Y223N possibly damaging Het
Ccdc141 A C 2: 76,888,324 (GRCm39) I480M possibly damaging Het
Ccn4 C A 15: 66,778,489 (GRCm39) Y103* probably null Het
Ccnh T A 13: 85,337,758 (GRCm39) V35E probably benign Het
Cd6 G T 19: 10,771,589 (GRCm39) S433* probably null Het
Ceacam10 A C 7: 24,480,477 (GRCm39) I83L probably benign Het
Chek2 T C 5: 111,003,705 (GRCm39) probably null Het
Chia1 A T 3: 106,029,765 (GRCm39) D73V probably damaging Het
Commd2 G A 3: 57,554,215 (GRCm39) T162I probably benign Het
Creb3l3 C T 10: 80,921,881 (GRCm39) A316T probably benign Het
Cul4a A G 8: 13,173,526 (GRCm39) K1R probably benign Het
Cyp2c23 T C 19: 44,005,176 (GRCm39) probably null Het
D630045J12Rik T C 6: 38,173,776 (GRCm39) T131A possibly damaging Het
Dctn4 A C 18: 60,683,308 (GRCm39) K295N probably damaging Het
Dnah1 A G 14: 31,041,902 (GRCm39) V23A probably benign Het
Dync1i1 A G 6: 5,767,048 (GRCm39) K91E possibly damaging Het
Dzip1l A G 9: 99,524,704 (GRCm39) D275G probably damaging Het
Enam C A 5: 88,649,402 (GRCm39) P304T probably damaging Het
Enpep A G 3: 129,125,812 (GRCm39) Y107H probably damaging Het
Exd2 T C 12: 80,527,350 (GRCm39) L27P probably damaging Het
Fam135b T A 15: 71,335,904 (GRCm39) D430V probably benign Het
Fam222b C T 11: 78,045,429 (GRCm39) T202I possibly damaging Het
Fmod T A 1: 133,968,912 (GRCm39) N317K probably damaging Het
Frem2 A G 3: 53,448,514 (GRCm39) F2301L probably damaging Het
Frem3 T C 8: 81,338,088 (GRCm39) F127S probably damaging Het
Gbp7 A G 3: 142,243,848 (GRCm39) S132G probably benign Het
Gm4787 A G 12: 81,424,830 (GRCm39) C443R probably damaging Het
Grik2 T C 10: 49,411,437 (GRCm39) M5V possibly damaging Het
Helb T C 10: 119,920,754 (GRCm39) D1063G probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Krt90 G A 15: 101,463,768 (GRCm39) L429F probably damaging Het
Lrr1 C A 12: 69,221,236 (GRCm39) T126K probably benign Het
Mgat4e C A 1: 134,469,766 (GRCm39) D93Y probably damaging Het
Mllt3 A T 4: 87,759,018 (GRCm39) S343R possibly damaging Het
Mms19 T A 19: 41,932,997 (GRCm39) S1031C probably damaging Het
Mtrf1 C T 14: 79,649,090 (GRCm39) H237Y probably damaging Het
Nckap1l T A 15: 103,381,483 (GRCm39) L408Q probably damaging Het
Oit3 A T 10: 59,259,904 (GRCm39) C500S probably damaging Het
Or11g1 T G 14: 50,651,333 (GRCm39) L111V possibly damaging Het
Or13c3 A G 4: 52,856,076 (GRCm39) S146P possibly damaging Het
Or4a39 C T 2: 89,236,599 (GRCm39) V275I probably benign Het
Otud7a T C 7: 63,385,663 (GRCm39) S376P possibly damaging Het
Pabpc2 A T 18: 39,907,322 (GRCm39) K196* probably null Het
Paqr8 T A 1: 21,005,637 (GRCm39) C264S probably benign Het
Pgm1 T A 4: 99,839,176 (GRCm39) F459Y probably benign Het
Phip C A 9: 82,790,922 (GRCm39) V675L probably benign Het
Pnma1 T G 12: 84,194,497 (GRCm39) T69P probably benign Het
Ppp1r14bl T C 1: 23,140,951 (GRCm39) E121G probably damaging Het
Ptpn12 A T 5: 21,210,383 (GRCm39) C242* probably null Het
Rabep1 T A 11: 70,799,294 (GRCm39) V306E probably benign Het
Ros1 C T 10: 51,992,093 (GRCm39) D1377N probably benign Het
Ryr3 T C 2: 112,794,750 (GRCm39) T121A possibly damaging Het
Scaf11 G A 15: 96,318,302 (GRCm39) Q421* probably null Het
Shcbp1 G A 8: 4,794,512 (GRCm39) T427M probably damaging Het
Shprh G A 10: 11,046,220 (GRCm39) R979H probably damaging Het
Slc22a27 C T 19: 7,903,241 (GRCm39) C163Y probably benign Het
Slc27a1 A G 8: 72,033,319 (GRCm39) D287G probably damaging Het
Slc27a1 C T 8: 72,033,453 (GRCm39) T310M possibly damaging Het
Slc29a3 A G 10: 60,552,105 (GRCm39) V313A probably benign Het
Slc35f2 A T 9: 53,679,069 (GRCm39) M1L probably benign Het
Sltm G C 9: 70,488,647 (GRCm39) R599T probably damaging Het
Spic T A 10: 88,511,752 (GRCm39) Q168L probably damaging Het
Spink6 G A 18: 44,215,428 (GRCm39) probably null Het
Stac2 T C 11: 97,932,198 (GRCm39) E235G possibly damaging Het
Szt2 G A 4: 118,246,388 (GRCm39) Q957* probably null Het
Them7 A T 2: 105,208,991 (GRCm39) T104S possibly damaging Het
Tmed4 T A 11: 6,221,716 (GRCm39) I207F possibly damaging Het
Tmem248 A G 5: 130,265,731 (GRCm39) E178G probably benign Het
Tomm40l G A 1: 171,047,131 (GRCm39) R296* probably null Het
Trim80 C A 11: 115,338,964 (GRCm39) T598N possibly damaging Het
Trim9 T C 12: 70,295,047 (GRCm39) N688D probably damaging Het
Vil1 C T 1: 74,460,425 (GRCm39) A194V probably damaging Het
Vmn2r61 A T 7: 41,916,565 (GRCm39) M393L probably damaging Het
Vmn2r63 C T 7: 42,577,544 (GRCm39) M331I probably benign Het
Vps33b G T 7: 79,939,796 (GRCm39) A516S probably damaging Het
Zc3h6 G A 2: 128,844,160 (GRCm39) G235R probably damaging Het
Zfp612 T A 8: 110,815,304 (GRCm39) D170E probably benign Het
Zfp746 A G 6: 48,041,490 (GRCm39) I412T probably benign Het
Other mutations in Or5d36
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01447:Or5d36 APN 2 87,901,468 (GRCm39) missense possibly damaging 0.56
IGL01472:Or5d36 APN 2 87,901,322 (GRCm39) missense possibly damaging 0.56
IGL02111:Or5d36 APN 2 87,901,571 (GRCm39) missense probably benign 0.22
R1274:Or5d36 UTSW 2 87,900,939 (GRCm39) missense probably damaging 1.00
R1938:Or5d36 UTSW 2 87,901,300 (GRCm39) missense probably damaging 1.00
R2012:Or5d36 UTSW 2 87,901,063 (GRCm39) missense probably benign 0.03
R3056:Or5d36 UTSW 2 87,901,583 (GRCm39) missense probably benign
R4127:Or5d36 UTSW 2 87,901,579 (GRCm39) missense probably benign 0.00
R4749:Or5d36 UTSW 2 87,900,956 (GRCm39) missense probably benign 0.44
R4769:Or5d36 UTSW 2 87,901,073 (GRCm39) missense probably benign 0.25
R6647:Or5d36 UTSW 2 87,901,053 (GRCm39) missense probably benign 0.03
R7111:Or5d36 UTSW 2 87,901,000 (GRCm39) missense probably damaging 1.00
R7168:Or5d36 UTSW 2 87,900,921 (GRCm39) missense probably benign 0.37
R8222:Or5d36 UTSW 2 87,901,381 (GRCm39) missense probably benign 0.00
R8869:Or5d36 UTSW 2 87,901,753 (GRCm39) critical splice acceptor site probably null
R9043:Or5d36 UTSW 2 87,900,983 (GRCm39) missense possibly damaging 0.94
R9205:Or5d36 UTSW 2 87,900,778 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- TGGCTCAGTGAAGTTGGAAC -3'
(R):5'- CTGTGAATATACTGCCCTCATTGTTG -3'

Sequencing Primer
(F):5'- GTTAAGCAAGGGGTTGAC -3'
(R):5'- AGTTCTGATATACACATTCCCAGC -3'
Posted On 2015-11-11