Incidental Mutation 'R0932:Or4k38'
ID 80938
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 039076-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R0932 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 111165504-111166421 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111165543 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 293 (D293E)
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: D293E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000097213
Gene: ENSMUSG00000096554
AA Change: D293E

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: 99.1%
  • 10x: 98.2%
  • 20x: 97.1%
Validation Efficiency 100% (42/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T C 16: 90,852,995 (GRCm39) N47S probably benign Het
AA986860 T C 1: 130,665,430 (GRCm39) probably null Het
Akap9 T A 5: 4,096,492 (GRCm39) C2456S possibly damaging Het
Anks3 C T 16: 4,771,691 (GRCm39) R111H probably damaging Het
Atp1a3 A T 7: 24,687,401 (GRCm39) probably null Het
Bahd1 T C 2: 118,746,408 (GRCm39) L9P probably damaging Het
Capn12 T C 7: 28,587,123 (GRCm39) V364A possibly damaging Het
Cds1 T A 5: 101,944,891 (GRCm39) C122S probably damaging Het
Cenpc1 T C 5: 86,185,459 (GRCm39) T351A possibly damaging Het
Cuzd1 T C 7: 130,921,923 (GRCm39) probably benign Het
Daxx T C 17: 34,129,635 (GRCm39) L72P probably damaging Het
Depdc1b A G 13: 108,523,369 (GRCm39) I415V probably benign Het
Dlg2 T C 7: 92,024,845 (GRCm39) V675A probably damaging Het
Dtx4 A G 19: 12,469,515 (GRCm39) V204A probably benign Het
Ganc T C 2: 120,288,610 (GRCm39) V872A probably damaging Het
Gm14403 A T 2: 177,198,810 (GRCm39) R38W probably benign Het
Gm4553 T C 7: 141,719,423 (GRCm39) S2G unknown Het
Gm8159 G A 14: 4,635,226 (GRCm38) R148H possibly damaging Het
Gsdmc3 T C 15: 63,730,400 (GRCm39) probably null Het
Ibtk C T 9: 85,617,099 (GRCm39) G158R probably damaging Het
Irx2 T A 13: 72,779,675 (GRCm39) S320T possibly damaging Het
Kctd7 A T 5: 130,180,510 (GRCm39) probably null Het
Kdr T C 5: 76,129,465 (GRCm39) T141A probably benign Het
Krt25 T A 11: 99,212,109 (GRCm39) Q176L possibly damaging Het
Krt71 T C 15: 101,645,195 (GRCm39) N372S probably benign Het
Mllt3 A G 4: 87,707,621 (GRCm39) V446A probably damaging Het
Or1j21 T A 2: 36,683,903 (GRCm39) Y218* probably null Het
Or5p4 C T 7: 107,680,727 (GRCm39) T242M probably damaging Het
Or5p52 A C 7: 107,502,397 (GRCm39) T158P possibly damaging Het
Or9e1 T C 11: 58,732,540 (GRCm39) V200A possibly damaging Het
Poldip2 T C 11: 78,403,294 (GRCm39) S18P possibly damaging Het
Ptprd T G 4: 76,055,122 (GRCm39) Q193P probably damaging Het
Reck C T 4: 43,922,838 (GRCm39) T371M possibly damaging Het
Rnf144b G T 13: 47,374,001 (GRCm39) R66L probably null Het
Rpn2 T A 2: 157,125,691 (GRCm39) D67E possibly damaging Het
Scn11a A G 9: 119,636,876 (GRCm39) F275S probably damaging Het
Slc12a5 G A 2: 164,838,805 (GRCm39) probably benign Het
Snapc4 A G 2: 26,264,658 (GRCm39) I253T probably damaging Het
Tppp2 C T 14: 52,157,881 (GRCm39) probably benign Het
Usp9y A C Y: 1,315,930 (GRCm39) N2068K probably benign Het
Vmn2r45 A G 7: 8,478,380 (GRCm39) C536R 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
R0972:Or4k38 UTSW 2 111,165,763 (GRCm39) missense probably benign 0.18
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'- TGATTGCACAGGTTTAGAGACACTGG -3'
(R):5'- AGATGGCTCATCAAAGGCCCTATCTAC -3'

Sequencing Primer
(F):5'- GCTAAAGCATCACTGTTTTGAACTG -3'
(R):5'- TACATGCACATCCCATATCATAGTG -3'
Posted On 2013-11-07