Incidental Mutation 'R5730:Or2q1'
ID 452712
Institutional Source Beutler Lab
Gene Symbol Or2q1
Ensembl Gene ENSMUSG00000054431
Gene Name olfactory receptor family 2 subfamily Q member 1
Synonyms Olfr450, GA_x6K02T2P3E9-4742413-4741481, MOR257-3
MMRRC Submission 043191-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R5730 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 42794407-42795339 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 42795094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 230 (R230*)
Ref Sequence ENSEMBL: ENSMUSP00000151908 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067503] [ENSMUST00000218832]
AlphaFold Q8VF81
Predicted Effect probably null
Transcript: ENSMUST00000067503
AA Change: R230*
SMART Domains Protein: ENSMUSP00000068823
Gene: ENSMUSG00000054431
AA Change: R230*

DomainStartEndE-ValueType
Pfam:7tm_4 33 308 8.2e-49 PFAM
Pfam:7tm_1 43 291 1.2e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000218832
AA Change: R230*
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.1%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,987,617 (GRCm39) V2967A possibly damaging Het
Apaf1 A T 10: 90,856,633 (GRCm39) I858K possibly damaging Het
Baiap3 T C 17: 25,466,498 (GRCm39) T466A probably benign Het
Brca2 T A 5: 150,492,470 (GRCm39) S3162T possibly damaging Het
Brd1 T G 15: 88,601,248 (GRCm39) N462T probably benign Het
Carm1 G A 9: 21,491,636 (GRCm39) R235H probably benign Het
Cd80 T C 16: 38,303,097 (GRCm39) probably null Het
Clip4 A G 17: 72,117,954 (GRCm39) Y333C probably damaging Het
Col7a1 T C 9: 108,801,310 (GRCm39) probably null Het
Csmd1 G A 8: 16,235,206 (GRCm39) Q1206* probably null Het
Cyp17a1 A G 19: 46,661,095 (GRCm39) I63T possibly damaging Het
Diaph1 A G 18: 38,036,829 (GRCm39) Y119H unknown Het
Dst T G 1: 34,156,607 (GRCm39) probably null Het
Fgfr1 A G 8: 26,063,827 (GRCm39) T785A probably damaging Het
Gm1553 A G 10: 82,323,945 (GRCm39) F94S unknown Het
Gpbar1 A G 1: 74,318,195 (GRCm39) N146S probably damaging Het
Gpc5 A G 14: 116,025,726 (GRCm39) T588A possibly damaging Het
Gramd2a A G 9: 59,618,489 (GRCm39) H9R probably damaging Het
Klk1b11 G A 7: 43,424,199 (GRCm39) S6N probably benign Het
Lrp1 A G 10: 127,419,703 (GRCm39) S969P probably benign Het
Lyz2 G T 10: 117,114,587 (GRCm39) A114E probably damaging Het
Madd T C 2: 90,988,454 (GRCm39) D1193G probably damaging Het
Mrpl39 C T 16: 84,529,322 (GRCm39) G107R probably damaging Het
Mthfd2 C T 6: 83,294,441 (GRCm39) R24H probably benign Het
Or4a68 T C 2: 89,269,780 (GRCm39) N281S probably damaging Het
Ovch2 A G 7: 107,392,606 (GRCm39) C246R probably damaging Het
Phf14 A T 6: 11,953,319 (GRCm39) I353F possibly damaging Het
Ppp2r5a C T 1: 191,104,732 (GRCm39) V105I probably benign Het
Prr14l T C 5: 32,950,947 (GRCm39) T1949A probably damaging Het
Prss48 T G 3: 85,904,563 (GRCm39) M212L possibly damaging Het
Pstk A T 7: 130,975,503 (GRCm39) D152V probably damaging Het
Scn2a C A 2: 65,512,882 (GRCm39) S214* probably null Het
Scn3a T G 2: 65,325,604 (GRCm39) N971T probably benign Het
Syne3 T C 12: 104,927,713 (GRCm39) I250V probably benign Het
Synpo2 T C 3: 122,907,768 (GRCm39) D516G probably benign Het
Tcea3 T C 4: 135,992,204 (GRCm39) V209A probably benign Het
Tnr A G 1: 159,715,892 (GRCm39) S885G probably benign Het
Trak2 T C 1: 58,960,966 (GRCm39) D188G probably damaging Het
Tubb1 A G 2: 174,299,562 (GRCm39) I415V probably benign Het
Virma T A 4: 11,542,154 (GRCm39) M1580K probably benign Het
Vmn1r120 A T 7: 20,786,934 (GRCm39) I259N possibly damaging Het
Vmn1r64 G A 7: 5,887,522 (GRCm39) T7I probably benign Het
Other mutations in Or2q1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01528:Or2q1 APN 6 42,795,208 (GRCm39) missense probably damaging 0.99
IGL01720:Or2q1 APN 6 42,794,527 (GRCm39) missense probably benign 0.00
IGL02457:Or2q1 APN 6 42,795,176 (GRCm39) missense probably damaging 0.97
R0376:Or2q1 UTSW 6 42,795,226 (GRCm39) missense probably benign 0.00
R1804:Or2q1 UTSW 6 42,795,155 (GRCm39) missense possibly damaging 0.66
R1823:Or2q1 UTSW 6 42,795,202 (GRCm39) missense possibly damaging 0.49
R2115:Or2q1 UTSW 6 42,794,431 (GRCm39) missense possibly damaging 0.65
R4817:Or2q1 UTSW 6 42,794,896 (GRCm39) missense possibly damaging 0.78
R5938:Or2q1 UTSW 6 42,794,701 (GRCm39) missense probably damaging 1.00
R6514:Or2q1 UTSW 6 42,794,930 (GRCm39) missense probably damaging 0.97
R7050:Or2q1 UTSW 6 42,794,504 (GRCm39) missense possibly damaging 0.61
R7211:Or2q1 UTSW 6 42,794,950 (GRCm39) missense probably benign 0.41
R8279:Or2q1 UTSW 6 42,794,557 (GRCm39) missense probably damaging 1.00
R8863:Or2q1 UTSW 6 42,794,780 (GRCm39) missense probably damaging 1.00
R8933:Or2q1 UTSW 6 42,794,950 (GRCm39) missense probably benign 0.36
R9039:Or2q1 UTSW 6 42,794,545 (GRCm39) missense probably damaging 0.99
R9416:Or2q1 UTSW 6 42,795,197 (GRCm39) missense probably benign 0.01
Z1177:Or2q1 UTSW 6 42,795,133 (GRCm39) missense possibly damaging 0.93
Z1189:Or2q1 UTSW 6 42,794,447 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGTCATCAATCACTTTGCCTGTG -3'
(R):5'- AACAAGTTTTGTAAGAGCAGCC -3'

Sequencing Primer
(F):5'- GTGAGACCCTTGCAGTGCTTC -3'
(R):5'- TGTAGATCACAGGGTTCAACGTG -3'
Posted On 2017-01-03