Incidental Mutation 'R5591:Or4c126'
ID 437508
Institutional Source Beutler Lab
Gene Symbol Or4c126
Ensembl Gene ENSMUSG00000061295
Gene Name olfactory receptor family 4 subfamily C member 126
Synonyms MOR234-3, Olfr1261, GA_x6K02T2Q125-51425355-51426275
MMRRC Submission 043269-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R5591 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89823739-89824659 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89823751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 5 (T5A)
Ref Sequence ENSEMBL: ENSMUSP00000150711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077785] [ENSMUST00000111509] [ENSMUST00000213909] [ENSMUST00000216953]
AlphaFold Q8VFB0
Predicted Effect possibly damaging
Transcript: ENSMUST00000077785
AA Change: T5A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000076959
Gene: ENSMUSG00000061295
AA Change: T5A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 30 297 1.5e-6 PFAM
Pfam:7tm_1 36 282 4.5e-26 PFAM
Pfam:7tm_4 134 275 4.4e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111509
AA Change: T5A

PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107134
Gene: ENSMUSG00000061295
AA Change: T5A

DomainStartEndE-ValueType
Pfam:7tm_4 25 299 1.8e-41 PFAM
Pfam:7TM_GPCR_Srsx 30 297 1.5e-6 PFAM
Pfam:7tm_1 36 282 4.5e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213909
AA Change: T5A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216953
AA Change: T5A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 97% (56/58)
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
Aldh16a1 T C 7: 44,794,076 (GRCm39) E13G probably null Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Bub1 A T 2: 127,661,263 (GRCm39) M276K probably benign Het
Casp14 A T 10: 78,550,179 (GRCm39) D156E unknown Het
Ccdc82 T A 9: 13,272,822 (GRCm39) probably null Het
Cdc42bpb T C 12: 111,289,521 (GRCm39) N436S probably benign Het
Cyp2j12 A G 4: 96,029,359 (GRCm39) probably benign Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Daxx T C 17: 34,130,662 (GRCm39) S226P probably damaging Het
Gm3676 T C 14: 41,365,181 (GRCm39) Y158C probably benign Het
Gnai1 A T 5: 18,476,844 (GRCm39) I285K probably benign Het
Gpr179 C T 11: 97,236,581 (GRCm39) V417I probably benign Het
Helz2 C T 2: 180,882,051 (GRCm39) M247I probably damaging Het
Hmcn2 C T 2: 31,234,059 (GRCm39) L275F probably damaging Het
Ifi27l2b A G 12: 103,417,566 (GRCm39) V207A probably damaging Het
Isg20l2 C T 3: 87,837,731 (GRCm39) probably benign Het
Itga6 A G 2: 71,670,934 (GRCm39) D221G probably damaging Het
Lca5l T C 16: 95,979,929 (GRCm39) Y67C probably damaging Het
Loxl3 T A 6: 83,025,018 (GRCm39) C249S probably damaging Het
Luc7l3 T C 11: 94,184,060 (GRCm39) probably benign Het
Lyst T G 13: 13,917,918 (GRCm39) I3326S probably damaging Het
Mbd5 A C 2: 49,164,681 (GRCm39) Q958H probably damaging Het
Mlip G A 9: 77,137,764 (GRCm39) S381L probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrm3 G A 11: 76,140,907 (GRCm39) R305H probably benign Het
Mtrex A T 13: 113,063,890 (GRCm39) M1K probably null Het
Or10ak7 A T 4: 118,791,658 (GRCm39) I127K probably damaging Het
Or1j18 A T 2: 36,625,244 (GRCm39) I304F probably benign Het
Or2aj5 T A 16: 19,424,608 (GRCm39) Q270L probably damaging Het
Or2ak7 A G 11: 58,574,951 (GRCm39) N84S probably benign Het
Or2d3c A T 7: 106,526,489 (GRCm39) M59K probably damaging Het
Or51q1 G T 7: 103,629,320 (GRCm39) R307L probably benign Het
P3h3 C T 6: 124,831,658 (GRCm39) probably benign Het
Pals2 A G 6: 50,157,159 (GRCm39) S276G probably benign Het
Plekhg3 C T 12: 76,607,066 (GRCm39) S42L possibly damaging Het
Polq A G 16: 36,832,247 (GRCm39) probably benign Het
Pramel16 T C 4: 143,675,377 (GRCm39) Y483C probably damaging Het
Pramel28 G T 4: 143,691,530 (GRCm39) L398I probably damaging Het
Raph1 G A 1: 60,540,905 (GRCm39) probably benign Het
Rnf144b G A 13: 47,396,430 (GRCm39) probably null Het
Ryr2 A G 13: 11,609,900 (GRCm39) S4309P probably benign Het
Sash1 A T 10: 8,601,482 (GRCm39) S1158T probably benign Het
Sim2 T C 16: 93,898,048 (GRCm39) V94A probably damaging Het
Sirt5 A G 13: 43,525,317 (GRCm39) D42G possibly damaging Het
Smarcal1 A T 1: 72,630,412 (GRCm39) K155N probably damaging Het
Spam1 A G 6: 24,800,545 (GRCm39) Y428C probably damaging Het
Spef2 T C 15: 9,583,922 (GRCm39) N1655S probably benign Het
Sympk A G 7: 18,787,964 (GRCm39) E1160G probably damaging Het
Tmem192 A G 8: 65,418,254 (GRCm39) Y168C possibly damaging Het
Ttn T A 2: 76,540,012 (GRCm39) M25998L probably benign Het
Usp48 A G 4: 137,379,963 (GRCm39) probably benign Het
Vamp4 A G 1: 162,415,811 (GRCm39) I71V possibly damaging Het
Washc5 C A 15: 59,241,012 (GRCm39) D108Y probably damaging Het
Wdfy4 T A 14: 32,829,087 (GRCm39) H1043L probably benign Het
Zcchc14 C T 8: 122,332,187 (GRCm39) probably benign Het
Zfp407 A G 18: 84,579,262 (GRCm39) F617S probably damaging Het
Zfp869 T A 8: 70,160,342 (GRCm39) N77I probably benign Het
Other mutations in Or4c126
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02582:Or4c126 APN 2 89,824,656 (GRCm39) missense probably benign 0.00
R0140:Or4c126 UTSW 2 89,824,463 (GRCm39) missense probably damaging 1.00
R0220:Or4c126 UTSW 2 89,824,206 (GRCm39) missense probably benign 0.08
R0243:Or4c126 UTSW 2 89,824,150 (GRCm39) missense probably benign 0.01
R1644:Or4c126 UTSW 2 89,824,297 (GRCm39) missense possibly damaging 0.60
R1669:Or4c126 UTSW 2 89,824,144 (GRCm39) splice site probably null
R1916:Or4c126 UTSW 2 89,824,148 (GRCm39) missense probably benign
R3620:Or4c126 UTSW 2 89,824,196 (GRCm39) missense probably damaging 1.00
R4190:Or4c126 UTSW 2 89,823,918 (GRCm39) nonsense probably null
R5260:Or4c126 UTSW 2 89,824,526 (GRCm39) missense probably damaging 1.00
R5907:Or4c126 UTSW 2 89,824,301 (GRCm39) missense probably benign 0.01
R5910:Or4c126 UTSW 2 89,823,782 (GRCm39) missense probably benign 0.29
R6044:Or4c126 UTSW 2 89,823,761 (GRCm39) missense possibly damaging 0.89
R6556:Or4c126 UTSW 2 89,824,517 (GRCm39) missense probably benign 0.39
R7083:Or4c126 UTSW 2 89,824,201 (GRCm39) missense probably benign
R7439:Or4c126 UTSW 2 89,824,183 (GRCm39) missense probably benign 0.00
R8439:Or4c126 UTSW 2 89,824,348 (GRCm39) missense probably benign 0.31
R8745:Or4c126 UTSW 2 89,824,076 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACCTGCACAGTGATCTTAATTGAAG -3'
(R):5'- CATAGATCATTTTGGGTGCTATGGAAG -3'

Sequencing Primer
(F):5'- GACATTCCAACAATGAGATCAC -3'
(R):5'- CCATCTATGACGGACAAGTAGG -3'
Posted On 2016-10-26