Incidental Mutation 'R9429:Or13a1'
ID 712806
Institutional Source Beutler Lab
Gene Symbol Or13a1
Ensembl Gene ENSMUSG00000053391
Gene Name olfactory receptor family 13 subfamily A member 1
Synonyms GA_x54KRFPKN04-58127726-58128655, Olfr211, MOR253-9
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.630) question?
Stock # R9429 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 116469630-116471501 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 116471292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 241 (S241A)
Ref Sequence ENSEMBL: ENSMUSP00000145330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065786] [ENSMUST00000203700]
AlphaFold Q8VGH2
Predicted Effect probably damaging
Transcript: ENSMUST00000065786
AA Change: S241A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066524
Gene: ENSMUSG00000053391
AA Change: S241A

DomainStartEndE-ValueType
Pfam:7tm_4 28 306 6.2e-49 PFAM
Pfam:7TM_GPCR_Srsx 34 304 3.4e-6 PFAM
Pfam:7tm_1 40 289 4e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203700
AA Change: S241A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145330
Gene: ENSMUSG00000053391
AA Change: S241A

DomainStartEndE-ValueType
Pfam:7tm_4 28 306 6.2e-49 PFAM
Pfam:7TM_GPCR_Srsx 34 304 3.4e-6 PFAM
Pfam:7tm_1 40 289 4e-24 PFAM
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5930422O12Rik A T 8: 33,919,165 (GRCm39) probably benign Het
Acte1 G T 7: 143,434,902 (GRCm39) probably null Het
Adam7 G C 14: 68,771,080 (GRCm39) H15Q probably null Het
Adgrv1 A T 13: 81,567,468 (GRCm39) I5235N probably damaging Het
Adgrv1 A C 13: 81,741,165 (GRCm39) C100G probably damaging Het
Aebp1 A G 11: 5,821,649 (GRCm39) T1063A probably benign Het
Atmin A G 8: 117,670,307 (GRCm39) R48G probably benign Het
Atxn10 A G 15: 85,346,565 (GRCm39) E441G probably benign Het
Catsper1 T C 19: 5,389,755 (GRCm39) V505A possibly damaging Het
Chd5 T C 4: 152,447,364 (GRCm39) V471A probably damaging Het
Cma2 A G 14: 56,210,276 (GRCm39) I110V possibly damaging Het
Cnst A C 1: 179,432,566 (GRCm39) N243T probably damaging Het
Col15a1 A T 4: 47,310,439 (GRCm39) N1203I probably damaging Het
Col6a3 T A 1: 90,731,585 (GRCm39) H1556L probably benign Het
Crybg3 T A 16: 59,375,556 (GRCm39) K185N probably benign Het
Dnah1 G A 14: 30,997,499 (GRCm39) Q2620* probably null Het
Dusp10 A C 1: 183,801,091 (GRCm39) D286A probably benign Het
Erich6 A G 3: 58,536,935 (GRCm39) V252A possibly damaging Het
Fhod1 A G 8: 106,057,139 (GRCm39) L945P probably damaging Het
Foxh1 C T 15: 76,553,442 (GRCm39) R120Q probably null Het
Frmd4b T C 6: 97,279,252 (GRCm39) D591G probably damaging Het
Gbe1 G A 16: 70,292,203 (GRCm39) V512I probably benign Het
Ghitm A G 14: 36,852,655 (GRCm39) S142P probably damaging Het
Gldc C T 19: 30,091,172 (GRCm39) A808T possibly damaging Het
Gm14496 C T 2: 181,637,934 (GRCm39) T336I possibly damaging Het
Ido2 T C 8: 25,037,194 (GRCm39) T171A probably damaging Het
Kctd19 A T 8: 106,109,652 (GRCm39) I930N probably damaging Het
Kctd2 T C 11: 115,318,277 (GRCm39) Y187H probably damaging Het
L3hypdh T C 12: 72,124,203 (GRCm39) T246A probably damaging Het
Lama1 A G 17: 68,118,449 (GRCm39) M2554V Het
Laptm5 A G 4: 130,655,961 (GRCm39) Y93C Het
Mroh2b T A 15: 4,963,907 (GRCm39) L833Q probably damaging Het
Ms4a12 T C 19: 11,193,424 (GRCm39) D187G probably damaging Het
Muc4 C T 16: 32,576,098 (GRCm39) T1866I unknown Het
Myo1a G T 10: 127,543,247 (GRCm39) D168Y probably damaging Het
Nek1 C T 8: 61,559,892 (GRCm39) S1005L probably benign Het
Nrg1 T A 8: 32,308,592 (GRCm39) M523L probably benign Het
Nt5c2 T A 19: 46,877,459 (GRCm39) H494L probably benign Het
Oasl2 G A 5: 115,043,040 (GRCm39) V271I probably benign Het
Or52s1 C T 7: 102,861,871 (GRCm39) A268V possibly damaging Het
Or5e1 G T 7: 108,354,412 (GRCm39) M116I probably damaging Het
Per2 T C 1: 91,351,489 (GRCm39) T1006A probably benign Het
Phyhd1 C A 2: 30,156,917 (GRCm39) F19L probably benign Het
Pter T A 2: 12,985,112 (GRCm39) D147E probably benign Het
Rps6ka1 A C 4: 133,598,900 (GRCm39) L90V probably damaging Het
Rrp15 A T 1: 186,481,368 (GRCm39) D46E probably benign Het
Ryr2 A G 13: 11,809,459 (GRCm39) F789L probably damaging Het
Sepsecs T C 5: 52,801,294 (GRCm39) K456R probably benign Het
Septin11 G A 5: 93,321,397 (GRCm39) probably null Het
Sowahb T C 5: 93,191,080 (GRCm39) I546M possibly damaging Het
Spata31 C A 13: 65,070,336 (GRCm39) T828K probably benign Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Ston1 A G 17: 88,943,034 (GRCm39) T147A probably benign Het
Tcf3 G A 10: 80,252,436 (GRCm39) P350S probably benign Het
Tek A G 4: 94,715,515 (GRCm39) D402G probably benign Het
Themis3 T C 17: 66,866,665 (GRCm39) R192G probably damaging Het
Tmc1 T A 19: 20,793,548 (GRCm39) I538F possibly damaging Het
Trpc3 T G 3: 36,705,777 (GRCm39) I473L probably benign Het
Ttll2 A T 17: 7,620,085 (GRCm39) L4Q probably damaging Het
Urb2 T A 8: 124,750,226 (GRCm39) Y5* probably null Het
Vav3 T A 3: 109,564,561 (GRCm39) Y673* probably null Het
Vmn1r32 T A 6: 66,530,237 (GRCm39) T180S probably benign Het
Vmn1r90 A T 7: 14,295,647 (GRCm39) N150K probably damaging Het
Zbed6 A C 1: 133,585,453 (GRCm39) I628R probably damaging Het
Zfp1007 A T 5: 109,824,334 (GRCm39) L372* probably null Het
Zfp750 G A 11: 121,404,693 (GRCm39) R61C probably damaging Het
Zfp87 A G 13: 74,520,703 (GRCm39) I125T probably damaging Het
Zfta T C 19: 7,399,594 (GRCm39) L447P probably damaging Het
Other mutations in Or13a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0681:Or13a1 UTSW 6 116,471,361 (GRCm39) missense probably damaging 1.00
R1443:Or13a1 UTSW 6 116,471,386 (GRCm39) missense probably benign 0.08
R1502:Or13a1 UTSW 6 116,471,242 (GRCm39) missense probably damaging 1.00
R1962:Or13a1 UTSW 6 116,470,725 (GRCm39) missense probably benign
R2421:Or13a1 UTSW 6 116,470,674 (GRCm39) missense probably benign
R5151:Or13a1 UTSW 6 116,470,765 (GRCm39) nonsense probably null
R5844:Or13a1 UTSW 6 116,470,900 (GRCm39) missense probably damaging 1.00
R7169:Or13a1 UTSW 6 116,471,025 (GRCm39) missense probably benign 0.01
R7596:Or13a1 UTSW 6 116,471,158 (GRCm39) missense probably benign 0.02
R9131:Or13a1 UTSW 6 116,470,881 (GRCm39) missense probably benign 0.02
Z1176:Or13a1 UTSW 6 116,471,337 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGGGCCCAATGTCATTAC -3'
(R):5'- CTGAGAGCTGCTTTGACTTCC -3'

Sequencing Primer
(F):5'- GGGCCCAATGTCATTACACATTTC -3'
(R):5'- GAGAGCTGCTTTGACTTCCTTGTTTC -3'
Posted On 2022-05-16