Incidental Mutation 'R2196:Or6d14'
ID 238358
Institutional Source Beutler Lab
Gene Symbol Or6d14
Ensembl Gene ENSMUSG00000051046
Gene Name olfactory receptor family 6 subfamily D member 14
Synonyms Olfr214, GA_x54KRFPKN04-58190962-58191900, MOR119-1
MMRRC Submission 040198-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.240) question?
Stock # R2196 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 116533388-116534350 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116533578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 64 (Q64L)
Ref Sequence ENSEMBL: ENSMUSP00000150737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060204] [ENSMUST00000122096] [ENSMUST00000203867] [ENSMUST00000214699] [ENSMUST00000215846] [ENSMUST00000217313]
AlphaFold Q8VG27
Predicted Effect probably damaging
Transcript: ENSMUST00000060204
AA Change: Q64L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000052730
Gene: ENSMUSG00000051046
AA Change: Q64L

DomainStartEndE-ValueType
Pfam:7tm_4 39 316 4.7e-47 PFAM
Pfam:7tm_1 49 298 5.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122096
SMART Domains Protein: ENSMUSP00000145194
Gene: ENSMUSG00000107906

DomainStartEndE-ValueType
DEXDc 57 254 2.4e-59 SMART
HELICc 291 372 6.6e-38 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000203867
AA Change: Q64L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145465
Gene: ENSMUSG00000051046
AA Change: Q64L

DomainStartEndE-ValueType
Pfam:7tm_4 39 316 4.7e-47 PFAM
Pfam:7tm_1 49 298 5.9e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214699
AA Change: Q64L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215846
AA Change: Q64L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000217313
AA Change: Q64L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 T A 13: 12,290,065 (GRCm39) T734S probably damaging Het
Acvr2a A T 2: 48,760,324 (GRCm39) T27S possibly damaging Het
Ankhd1 T A 18: 36,781,432 (GRCm39) N2161K probably damaging Het
Apba3 A G 10: 81,107,542 (GRCm39) Y350C probably damaging Het
Bnipl T A 3: 95,157,181 (GRCm39) R47S possibly damaging Het
Cacna1b C T 2: 24,651,800 (GRCm39) M126I probably damaging Het
Cep112 G A 11: 108,461,187 (GRCm39) E329K probably damaging Het
Cep55 T A 19: 38,057,558 (GRCm39) Y187N probably damaging Het
Cngb3 T C 4: 19,415,690 (GRCm39) I400T possibly damaging Het
Csad T C 15: 102,096,028 (GRCm39) N142D probably benign Het
Dars1 A T 1: 128,306,595 (GRCm39) I195N probably damaging Het
Dmxl1 T A 18: 50,050,698 (GRCm39) L2454Q probably benign Het
Emc1 A T 4: 139,093,841 (GRCm39) E650D probably benign Het
Enam A G 5: 88,650,603 (GRCm39) D704G probably damaging Het
Fat1 T A 8: 45,477,683 (GRCm39) I2220N probably damaging Het
Fat4 T C 3: 39,035,566 (GRCm39) S3073P probably benign Het
Fbxl4 T C 4: 22,403,624 (GRCm39) M399T probably benign Het
Gcsh G A 8: 117,715,909 (GRCm39) T58M possibly damaging Het
Ghrhr T C 6: 55,356,726 (GRCm39) Y108H probably damaging Het
Gm5431 A T 11: 48,780,058 (GRCm39) I566N probably damaging Het
Gnb5 A T 9: 75,234,511 (GRCm39) D70V probably damaging Het
Grin2c G T 11: 115,141,492 (GRCm39) S875R probably benign Het
Itch A C 2: 155,044,141 (GRCm39) Q482P probably benign Het
Krt87 T C 15: 101,336,314 (GRCm39) E113G probably damaging Het
Map4 A G 9: 109,900,116 (GRCm39) E934G probably damaging Het
Mkx A G 18: 7,000,675 (GRCm39) L89P probably damaging Het
Myo15a T A 11: 60,400,847 (GRCm39) Y2982* probably null Het
Nedd4 C T 9: 72,632,356 (GRCm39) L397F possibly damaging Het
Nom1 A G 5: 29,641,019 (GRCm39) D353G probably benign Het
Notch1 A T 2: 26,353,816 (GRCm39) L1937* probably null Het
Nrxn2 A T 19: 6,540,139 (GRCm39) D820V probably damaging Het
Nup210 A T 6: 91,032,226 (GRCm39) N47K probably benign Het
Or1j12 T A 2: 36,342,600 (GRCm39) M1K probably null Het
Or4p21 G A 2: 88,277,054 (GRCm39) T76I probably benign Het
Pcolce2 A T 9: 95,576,742 (GRCm39) I338F probably damaging Het
Pkd1 T C 17: 24,799,046 (GRCm39) M2755T possibly damaging Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 106,103,084 (GRCm39) probably benign Het
Rab3a T C 8: 71,209,872 (GRCm39) S51P probably benign Het
Scn10a G A 9: 119,438,070 (GRCm39) A1933V probably benign Het
Serpina1c T A 12: 103,862,370 (GRCm39) Y315F probably damaging Het
Slc29a4 A C 5: 142,698,650 (GRCm39) I104L possibly damaging Het
Spag16 G A 1: 69,897,681 (GRCm39) V144I possibly damaging Het
Spata22 A G 11: 73,236,660 (GRCm39) K322R probably benign Het
Sult2a8 T A 7: 14,161,778 (GRCm39) I23L probably benign Het
Thoc1 T A 18: 9,986,300 (GRCm39) V344D probably damaging Het
Tnn G C 1: 159,924,798 (GRCm39) Y1185* probably null Het
Trpc4 A G 3: 54,209,614 (GRCm39) I660V probably benign Het
Urb1 A G 16: 90,571,144 (GRCm39) Y1222H probably benign Het
Usp4 A G 9: 108,250,885 (GRCm39) E531G probably benign Het
Vmn2r93 C T 17: 18,525,428 (GRCm39) S362L probably damaging Het
Zfhx3 G T 8: 109,526,885 (GRCm39) E927D probably damaging Het
Zfp644 A T 5: 106,786,469 (GRCm39) M1K probably null Het
Zp2 T C 7: 119,737,529 (GRCm39) H252R probably benign Het
Other mutations in Or6d14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00951:Or6d14 APN 6 116,534,027 (GRCm39) missense probably benign
IGL01837:Or6d14 APN 6 116,533,807 (GRCm39) nonsense probably null
IGL02523:Or6d14 APN 6 116,534,054 (GRCm39) missense probably benign 0.03
R0027:Or6d14 UTSW 6 116,533,910 (GRCm39) missense probably damaging 0.99
R0616:Or6d14 UTSW 6 116,533,889 (GRCm39) missense probably benign 0.00
R1121:Or6d14 UTSW 6 116,534,190 (GRCm39) missense probably damaging 0.99
R1555:Or6d14 UTSW 6 116,533,787 (GRCm39) missense probably damaging 1.00
R1691:Or6d14 UTSW 6 116,533,538 (GRCm39) missense probably benign 0.00
R3080:Or6d14 UTSW 6 116,534,178 (GRCm39) missense probably damaging 0.98
R5416:Or6d14 UTSW 6 116,534,166 (GRCm39) missense probably damaging 1.00
R5706:Or6d14 UTSW 6 116,534,074 (GRCm39) missense probably damaging 1.00
R6848:Or6d14 UTSW 6 116,533,736 (GRCm39) missense probably damaging 0.98
R7425:Or6d14 UTSW 6 116,533,398 (GRCm39) missense possibly damaging 0.95
R8059:Or6d14 UTSW 6 116,533,434 (GRCm39) missense possibly damaging 0.47
R8349:Or6d14 UTSW 6 116,534,289 (GRCm39) missense probably damaging 0.99
R8449:Or6d14 UTSW 6 116,534,289 (GRCm39) missense probably damaging 0.99
R8551:Or6d14 UTSW 6 116,534,289 (GRCm39) missense probably damaging 0.99
R8552:Or6d14 UTSW 6 116,534,289 (GRCm39) missense probably damaging 0.99
R8553:Or6d14 UTSW 6 116,534,289 (GRCm39) missense probably damaging 0.99
R8555:Or6d14 UTSW 6 116,534,289 (GRCm39) missense probably damaging 0.99
R8988:Or6d14 UTSW 6 116,534,255 (GRCm39) missense possibly damaging 0.89
R9720:Or6d14 UTSW 6 116,534,016 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- TACCAGATCAAGGAGGGCTG -3'
(R):5'- TAGCGATCCAAGGACATCACAG -3'

Sequencing Primer
(F):5'- TCAAGGAGGGCTGATGGC -3'
(R):5'- CAGCCATGTGGAAGAAAATTGTG -3'
Posted On 2014-10-02