Incidental Mutation 'R9728:Or14a259'
ID 731162
Institutional Source Beutler Lab
Gene Symbol Or14a259
Ensembl Gene ENSMUSG00000055571
Gene Name olfactory receptor family 14 subfamily A member 259
Synonyms GA_x6K02T2NHDJ-9744055-9745014, Olfr305, MOR219-2
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R9728 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 86012584-86013543 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86012771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 258 (L258P)
Ref Sequence ENSEMBL: ENSMUSP00000149762 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069236] [ENSMUST00000213255] [ENSMUST00000213869] [ENSMUST00000216700]
AlphaFold Q7TS02
Predicted Effect probably damaging
Transcript: ENSMUST00000069236
AA Change: L258P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068650
Gene: ENSMUSG00000055571
AA Change: L258P

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.3e-40 PFAM
Pfam:7tm_1 39 288 3.3e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213255
AA Change: L258P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000213869
AA Change: L258P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216700
AA Change: L258P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atr G A 9: 95,797,050 (GRCm39) A1698T probably benign Het
Caml T A 13: 55,779,670 (GRCm39) S248T possibly damaging Het
Copg1 A G 6: 87,879,225 (GRCm39) I424V probably damaging Het
Cwh43 A T 5: 73,565,629 (GRCm39) N65Y possibly damaging Het
Defb1 A G 8: 22,284,486 (GRCm39) Y35C probably damaging Het
Disc1 A T 8: 125,959,795 (GRCm39) E769V probably null Het
Egln1 G A 8: 125,675,093 (GRCm39) T234I possibly damaging Het
Esco2 A T 14: 66,069,069 (GRCm39) F80L probably benign Het
Frem2 C T 3: 53,564,052 (GRCm39) A152T probably benign Het
Gcc1 T C 6: 28,420,544 (GRCm39) R258G probably damaging Het
Gm19410 A G 8: 36,247,594 (GRCm39) T469A possibly damaging Het
Gm4884 A T 7: 40,692,689 (GRCm39) Q219H probably benign Het
Gpr160 A G 3: 30,950,144 (GRCm39) N72S probably damaging Het
Hps3 C A 3: 20,065,128 (GRCm39) A771S probably benign Het
Igkv12-46 G T 6: 69,741,967 (GRCm39) P4T possibly damaging Het
Iqcf5 A T 9: 106,393,168 (GRCm39) I142L probably damaging Het
Kcna10 A T 3: 107,101,513 (GRCm39) N48I possibly damaging Het
Klhdc9 A G 1: 171,187,357 (GRCm39) S214P probably damaging Het
Knop1 C T 7: 118,451,840 (GRCm39) S293N Het
Lgr6 A G 1: 134,915,245 (GRCm39) L778P probably damaging Het
Lrrk2 A G 15: 91,618,228 (GRCm39) N909S probably benign Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mei1 G A 15: 81,966,098 (GRCm39) G240D Het
Miox A T 15: 89,218,703 (GRCm39) probably benign Het
Myo1e A G 9: 70,223,924 (GRCm39) Y128C probably damaging Het
Nlrp9a T A 7: 26,256,915 (GRCm39) Y178N probably damaging Het
Or5m13 A G 2: 85,748,887 (GRCm39) N206S possibly damaging Het
Or8u8 A T 2: 86,011,636 (GRCm39) M273K possibly damaging Het
Pde11a C A 2: 76,121,608 (GRCm39) L324F probably damaging Het
Pprc1 T C 19: 46,060,639 (GRCm39) V1568A probably damaging Het
Ralgps1 C T 2: 33,163,626 (GRCm39) V144M probably damaging Het
Rgs22 A T 15: 36,040,856 (GRCm39) V1001E probably benign Het
Sapcd2 C A 2: 25,262,669 (GRCm39) A76D probably damaging Het
Sec24b A G 3: 129,790,422 (GRCm39) I701T probably damaging Het
Sema4a T C 3: 88,348,187 (GRCm39) probably null Het
Setd5 G T 6: 113,128,366 (GRCm39) V1440L probably benign Het
Sik3 A G 9: 46,106,142 (GRCm39) K337E possibly damaging Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc23a2 G T 2: 131,900,130 (GRCm39) N568K probably damaging Het
Spag16 A G 1: 69,962,842 (GRCm39) R330G probably benign Het
Sspo G A 6: 48,432,707 (GRCm39) G861D probably damaging Het
Sun5 T A 2: 153,709,466 (GRCm39) M75L probably benign Het
Syde1 AGCCCGAAAACACGGGGCTCTGC AGC 10: 78,424,638 (GRCm39) probably null Het
Synrg A G 11: 83,915,117 (GRCm39) Y963C probably damaging Het
Tdpoz6 A T 3: 93,599,807 (GRCm39) C187* probably null Het
Trbv15 A T 6: 41,118,550 (GRCm39) E102V possibly damaging Het
Trim43b G T 9: 88,973,395 (GRCm39) H113N probably benign Het
Trrap G T 5: 144,726,193 (GRCm39) D381Y probably benign Het
Tubb6 A G 18: 67,534,671 (GRCm39) H190R probably benign Het
Unc45a G T 7: 79,978,448 (GRCm39) L667I probably benign Het
Vav1 A G 17: 57,612,459 (GRCm39) D570G probably benign Het
Vmn1r214 T C 13: 23,219,007 (GRCm39) V167A probably benign Het
Vmn2r112 G A 17: 22,824,108 (GRCm39) M454I probably damaging Het
Vwf C A 6: 125,568,670 (GRCm39) L398I possibly damaging Het
Zfp13 C T 17: 23,799,788 (GRCm39) R107K possibly damaging Het
Zfp318 G A 17: 46,707,713 (GRCm39) R257Q probably benign Het
Zfp9 G T 6: 118,443,851 (GRCm39) A58E probably benign Het
Other mutations in Or14a259
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Or14a259 APN 7 86,012,768 (GRCm39) missense possibly damaging 0.46
IGL02102:Or14a259 APN 7 86,013,074 (GRCm39) missense probably benign 0.25
IGL02424:Or14a259 APN 7 86,012,688 (GRCm39) missense probably benign 0.02
IGL02664:Or14a259 APN 7 86,012,811 (GRCm39) missense possibly damaging 0.94
IGL03167:Or14a259 APN 7 86,013,128 (GRCm39) missense probably damaging 1.00
R0035:Or14a259 UTSW 7 86,013,395 (GRCm39) missense possibly damaging 0.95
R0373:Or14a259 UTSW 7 86,013,013 (GRCm39) nonsense probably null
R0510:Or14a259 UTSW 7 86,013,035 (GRCm39) missense probably benign 0.21
R2214:Or14a259 UTSW 7 86,013,414 (GRCm39) missense probably benign 0.01
R3147:Or14a259 UTSW 7 86,013,092 (GRCm39) missense probably benign 0.01
R3623:Or14a259 UTSW 7 86,013,308 (GRCm39) missense probably benign 0.02
R4155:Or14a259 UTSW 7 86,013,270 (GRCm39) missense probably benign 0.00
R4332:Or14a259 UTSW 7 86,013,080 (GRCm39) missense probably benign 0.01
R4785:Or14a259 UTSW 7 86,012,943 (GRCm39) missense probably damaging 1.00
R4834:Or14a259 UTSW 7 86,012,952 (GRCm39) missense probably benign 0.21
R4871:Or14a259 UTSW 7 86,012,692 (GRCm39) missense probably damaging 1.00
R5161:Or14a259 UTSW 7 86,013,546 (GRCm39) splice site probably null
R5254:Or14a259 UTSW 7 86,013,398 (GRCm39) missense possibly damaging 0.82
R6430:Or14a259 UTSW 7 86,013,181 (GRCm39) nonsense probably null
R7734:Or14a259 UTSW 7 86,013,476 (GRCm39) missense not run
R8520:Or14a259 UTSW 7 86,013,471 (GRCm39) missense probably benign 0.00
R8682:Or14a259 UTSW 7 86,013,373 (GRCm39) missense probably damaging 0.99
R9407:Or14a259 UTSW 7 86,013,194 (GRCm39) nonsense probably null
RF010:Or14a259 UTSW 7 86,012,594 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- ATGTCCCTATTGCCTCAGATATAC -3'
(R):5'- CCTGCTCTGGATCACTCATG -3'

Sequencing Primer
(F):5'- CCCTATTGCCTCAGATATACTATGTC -3'
(R):5'- ATAAGTCTTGGAATTGGTGTTTGTC -3'
Posted On 2022-10-06