Incidental Mutation 'R0972:Or4k38'
ID 82851
Institutional Source Beutler Lab
Gene Symbol Or4k38
Ensembl Gene ENSMUSG00000096554
Gene Name olfactory receptor family 4 subfamily K member 38
Synonyms MOR248-16, Olfr1557, MOR248-2, Olfr1282, GA_x6K02T2Q125-72387537-72386620
MMRRC Submission 039101-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R0972 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 111165504-111166421 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111165763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 220 (Y220C)
Ref Sequence ENSEMBL: ENSMUSP00000097213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099618] [ENSMUST00000208176]
AlphaFold Q7TQY5
Predicted Effect probably benign
Transcript: ENSMUST00000099618
AA Change: Y220C

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000097213
Gene: ENSMUSG00000096554
AA Change: Y220C

DomainStartEndE-ValueType
Pfam:7tm_4 31 305 5.5e-47 PFAM
Pfam:7tm_1 41 287 2.6e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208176
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.3%
Validation Efficiency 97% (72/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 G A 8: 41,208,168 (GRCm39) R478Q probably damaging Het
Adgrf5 A T 17: 43,761,874 (GRCm39) S1190C probably damaging Het
Akr1a1 T C 4: 116,497,204 (GRCm39) probably null Het
Bco2 A T 9: 50,447,615 (GRCm39) D369E probably benign Het
Blm A T 7: 80,163,118 (GRCm39) S78T probably benign Het
Brsk2 C G 7: 141,547,441 (GRCm39) probably benign Het
Cct8 A G 16: 87,283,508 (GRCm39) V269A possibly damaging Het
Cdh12 A T 15: 21,237,850 (GRCm39) Q28H probably benign Het
Cep290 A G 10: 100,354,624 (GRCm39) T896A probably benign Het
Chrm2 T A 6: 36,501,401 (GRCm39) N419K possibly damaging Het
Clasp2 A T 9: 113,676,773 (GRCm39) H168L possibly damaging Het
Cog3 A T 14: 75,954,610 (GRCm39) M643K probably benign Het
Col6a5 A G 9: 105,817,484 (GRCm39) S276P unknown Het
Colgalt2 T C 1: 152,347,495 (GRCm39) V143A probably damaging Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Cwc27 C A 13: 104,797,865 (GRCm39) E365* probably null Het
Ddx56 A T 11: 6,217,718 (GRCm39) M1K probably null Het
Dnah3 C T 7: 119,634,563 (GRCm39) probably null Het
Dnah6 T C 6: 73,136,176 (GRCm39) T988A possibly damaging Het
Esp15 T A 17: 39,953,557 (GRCm39) F15I possibly damaging Het
Fam237b T A 5: 5,625,512 (GRCm39) D69E probably benign Het
Fbh1 C T 2: 11,768,899 (GRCm39) probably benign Het
Gucy1b2 A T 14: 62,646,127 (GRCm39) I572N possibly damaging Het
Gucy1b2 T C 14: 62,651,818 (GRCm39) I393V possibly damaging Het
H1f6 G T 13: 23,880,307 (GRCm39) K153N possibly damaging Het
Herc1 C A 9: 66,279,427 (GRCm39) R112S probably damaging Het
Itga7 G A 10: 128,778,746 (GRCm39) R291H probably damaging Het
Jag1 A G 2: 136,925,371 (GRCm39) L1077S possibly damaging Het
Klb G C 5: 65,506,089 (GRCm39) R112P possibly damaging Het
Klrc2 T C 6: 129,635,726 (GRCm39) Y134C probably damaging Het
Map2k2 C A 10: 80,955,482 (GRCm39) D67E probably benign Het
Mest G A 6: 30,740,683 (GRCm39) W14* probably null Het
Mier2 A G 10: 79,380,455 (GRCm39) probably benign Het
Mog A G 17: 37,328,424 (GRCm39) V169A probably benign Het
Mov10l1 T C 15: 88,905,482 (GRCm39) V879A probably damaging Het
Mrgpra9 A G 7: 46,885,203 (GRCm39) S155P probably damaging Het
Mtmr10 A G 7: 63,976,457 (GRCm39) D418G probably damaging Het
Mtpn T C 6: 35,498,911 (GRCm39) D58G probably null Het
Myh8 A G 11: 67,188,585 (GRCm39) R1056G probably damaging Het
Nek1 T A 8: 61,542,465 (GRCm39) probably null Het
Or5al7 A C 2: 85,992,648 (GRCm39) L215R possibly damaging Het
Or8b36 T A 9: 37,937,856 (GRCm39) F251L possibly damaging Het
Pcnx1 G A 12: 81,960,186 (GRCm39) D181N probably damaging Het
Pdzrn4 A G 15: 92,655,592 (GRCm39) D495G probably benign Het
Plppr3 A G 10: 79,700,920 (GRCm39) S641P probably damaging Het
Pramel11 T A 4: 143,623,533 (GRCm39) T214S probably benign Het
Prelp A T 1: 133,842,414 (GRCm39) Y244N probably damaging Het
Prg2 C A 2: 84,812,393 (GRCm39) N34K probably benign Het
Ptp4a1 A G 1: 30,984,080 (GRCm39) V46A possibly damaging Het
Rpl6 A G 5: 121,346,565 (GRCm39) D222G possibly damaging Het
Rtp1 A T 16: 23,250,058 (GRCm39) D141V probably damaging Het
Sacs T A 14: 61,449,412 (GRCm39) Y3819* probably null Het
Serinc5 A G 13: 92,825,128 (GRCm39) T186A probably benign Het
Slc15a2 A G 16: 36,577,501 (GRCm39) S422P probably benign Het
Slc2a8 A T 2: 32,865,379 (GRCm39) V366D probably benign Het
Smarca1 T C X: 46,938,864 (GRCm39) R715G possibly damaging Het
Spdef C T 17: 27,933,997 (GRCm39) A275T probably damaging Het
Tcf21 T C 10: 22,695,621 (GRCm39) K61R probably benign Het
Tep1 A G 14: 51,061,753 (GRCm39) probably benign Het
Thada G A 17: 84,736,490 (GRCm39) probably benign Het
Thap11 T A 8: 106,582,810 (GRCm39) I273N probably damaging Het
Tmem129 T A 5: 33,812,112 (GRCm39) E262V possibly damaging Het
Tnxb A G 17: 34,904,117 (GRCm39) Y1086C probably damaging Het
Togaram2 A G 17: 72,014,309 (GRCm39) Y619C probably damaging Het
Top1 C T 2: 160,562,945 (GRCm39) A717V probably damaging Het
Trpm7 G A 2: 126,646,969 (GRCm39) P1507S probably benign Het
Ubr2 A T 17: 47,245,187 (GRCm39) probably null Het
Usp30 T C 5: 114,249,925 (GRCm39) probably benign Het
Vmn1r3 T A 4: 3,185,125 (GRCm39) I61F probably damaging Het
Zbtb22 C T 17: 34,136,326 (GRCm39) T157I possibly damaging Het
Zfp677 A T 17: 21,618,572 (GRCm39) H543L probably damaging Het
Zranb3 G T 1: 127,884,383 (GRCm39) P1001Q probably damaging Het
Other mutations in Or4k38
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02677:Or4k38 APN 2 111,166,147 (GRCm39) missense probably damaging 1.00
R0798:Or4k38 UTSW 2 111,165,689 (GRCm39) missense probably benign 0.16
R0932:Or4k38 UTSW 2 111,165,543 (GRCm39) missense probably benign 0.00
R1033:Or4k38 UTSW 2 111,166,147 (GRCm39) missense probably damaging 1.00
R1864:Or4k38 UTSW 2 111,166,052 (GRCm39) missense possibly damaging 0.95
R1879:Or4k38 UTSW 2 111,165,808 (GRCm39) missense possibly damaging 0.61
R2343:Or4k38 UTSW 2 111,166,045 (GRCm39) missense probably damaging 1.00
R2509:Or4k38 UTSW 2 111,166,076 (GRCm39) missense probably damaging 0.98
R3620:Or4k38 UTSW 2 111,165,689 (GRCm39) missense probably benign 0.06
R5589:Or4k38 UTSW 2 111,165,850 (GRCm39) missense possibly damaging 0.46
R6487:Or4k38 UTSW 2 111,166,012 (GRCm39) missense probably benign 0.00
R6818:Or4k38 UTSW 2 111,165,659 (GRCm39) missense probably benign 0.22
R7153:Or4k38 UTSW 2 111,166,246 (GRCm39) missense probably damaging 1.00
R7480:Or4k38 UTSW 2 111,165,737 (GRCm39) missense probably benign 0.22
R7589:Or4k38 UTSW 2 111,165,719 (GRCm39) missense probably damaging 1.00
R8441:Or4k38 UTSW 2 111,166,131 (GRCm39) nonsense probably null
R8774:Or4k38 UTSW 2 111,166,318 (GRCm39) missense probably damaging 1.00
R8774-TAIL:Or4k38 UTSW 2 111,166,318 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCAACCCAGGTGATGCTGACTG -3'
(R):5'- AGGGACTGTGTTCCTCAAGGCAAC -3'

Sequencing Primer
(F):5'- GGCCACAGATAGATAAAAATGATGG -3'
(R):5'- CTTGTAACAATGGCCTATGACCG -3'
Posted On 2013-11-08