Incidental Mutation 'R5757:Oxtr'
ID 445098
Institutional Source Beutler Lab
Gene Symbol Oxtr
Ensembl Gene ENSMUSG00000049112
Gene Name oxytocin receptor
Synonyms OTR
MMRRC Submission 043360-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5757 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 112450644-112466904 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 112454222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 14 (I14N)
Ref Sequence ENSEMBL: ENSMUSP00000145300 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053306] [ENSMUST00000075477] [ENSMUST00000204027]
AlphaFold P97926
Predicted Effect probably damaging
Transcript: ENSMUST00000053306
AA Change: I327N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051132
Gene: ENSMUSG00000049112
AA Change: I327N

DomainStartEndE-ValueType
Pfam:7tm_4 46 183 2.5e-8 PFAM
Pfam:7TM_GPCR_Srsx 50 339 1.4e-6 PFAM
Pfam:7tm_1 56 328 3.4e-46 PFAM
low complexity region 365 387 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000075477
SMART Domains Protein: ENSMUSP00000074922
Gene: ENSMUSG00000062694

DomainStartEndE-ValueType
Pfam:Caveolin 15 148 9.5e-61 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204027
AA Change: I14N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145300
Gene: ENSMUSG00000049112
AA Change: I14N

DomainStartEndE-ValueType
SCOP:d1l9ha_ 2 56 2e-6 SMART
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. The oxytocin-oxytocin receptor system plays an important role in the uterus during parturition. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null females fail to lactate and exhibit decreased maternal behavior. Males exhibit an increase in aggression, hypoactivity and vocalization in response to social isolation, and social amnesia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a C T 11: 109,933,794 (GRCm39) A1204T probably benign Het
Adcy5 G T 16: 35,092,451 (GRCm39) R604L probably damaging Het
Ago4 A T 4: 126,419,877 (GRCm39) N33K probably damaging Het
Arid5b T C 10: 67,937,909 (GRCm39) Y406C probably damaging Het
Asgr1 A C 11: 69,945,778 (GRCm39) H18P probably benign Het
Asph A C 4: 9,637,722 (GRCm39) probably null Het
Brd4 G A 17: 32,420,272 (GRCm39) probably benign Het
Ccdc150 T A 1: 54,302,779 (GRCm39) I133N probably damaging Het
Cdon A C 9: 35,364,068 (GRCm39) H62P probably damaging Het
Clec4b1 T A 6: 123,046,713 (GRCm39) Y157* probably null Het
Clip1 G A 5: 123,765,460 (GRCm39) T810I probably benign Het
Crocc A T 4: 140,770,875 (GRCm39) L184Q probably damaging Het
Fat2 C T 11: 55,143,172 (GRCm39) G4226R probably damaging Het
Fbxo30 T A 10: 11,166,165 (GRCm39) C296S probably benign Het
Fndc3a T C 14: 72,794,025 (GRCm39) K883E probably benign Het
Glyr1 A T 16: 4,836,856 (GRCm39) M436K probably benign Het
Gm525 A T 11: 88,965,872 (GRCm39) Q38L probably benign Het
Gnas T A 2: 174,187,040 (GRCm39) V941D probably damaging Het
Hectd4 G C 5: 121,486,682 (GRCm39) E3226Q possibly damaging Het
Ints13 G A 6: 146,451,604 (GRCm39) R714C probably benign Het
Kif12 A T 4: 63,088,755 (GRCm39) W182R probably damaging Het
Kif21a A G 15: 90,835,548 (GRCm39) L1272P probably damaging Het
Klhl14 A C 18: 21,687,791 (GRCm39) Y544D probably damaging Het
Kntc1 T C 5: 123,945,372 (GRCm39) probably null Het
Lama1 G A 17: 68,045,782 (GRCm39) R229Q possibly damaging Het
Ltbp1 T A 17: 75,580,944 (GRCm39) probably null Het
Map4k5 A T 12: 69,871,429 (GRCm39) C498S probably damaging Het
Myh9 A T 15: 77,655,362 (GRCm39) V1198E probably benign Het
Ncoa6 T C 2: 155,253,528 (GRCm39) D950G probably damaging Het
Obsl1 G T 1: 75,469,699 (GRCm39) A1106D probably damaging Het
Or5m9 T A 2: 85,876,910 (GRCm39) V28E possibly damaging Het
Or8k27 T C 2: 86,275,922 (GRCm39) I135V probably benign Het
Otog T A 7: 45,890,545 (GRCm39) probably null Het
Pfkfb3 A T 2: 11,485,141 (GRCm39) S490R probably damaging Het
Polk A C 13: 96,620,760 (GRCm39) M560R probably benign Het
Polq C T 16: 36,907,043 (GRCm39) H2335Y probably benign Het
Prr14 T A 7: 127,074,725 (GRCm39) V419D possibly damaging Het
Rflnb A G 11: 75,912,992 (GRCm39) V132A probably damaging Het
Rxfp1 T G 3: 79,568,627 (GRCm39) I283L possibly damaging Het
Ryr3 G A 2: 112,672,320 (GRCm39) R1384C probably damaging Het
Scnn1g T A 7: 121,337,438 (GRCm39) C100S probably damaging Het
Sfrp2 G C 3: 83,673,933 (GRCm39) G29R possibly damaging Het
Spop A G 11: 95,381,208 (GRCm39) H312R probably damaging Het
Tpx2 A G 2: 152,727,151 (GRCm39) probably null Het
Wdr4 A T 17: 31,718,063 (GRCm39) V337E probably damaging Het
Zbtb11 A G 16: 55,827,392 (GRCm39) N953D probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Oxtr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02418:Oxtr APN 6 112,454,200 (GRCm39) missense probably damaging 1.00
R0610:Oxtr UTSW 6 112,454,138 (GRCm39) missense probably benign 0.08
R0635:Oxtr UTSW 6 112,466,161 (GRCm39) missense probably damaging 1.00
R0924:Oxtr UTSW 6 112,466,598 (GRCm39) splice site probably null
R0930:Oxtr UTSW 6 112,466,598 (GRCm39) splice site probably null
R0959:Oxtr UTSW 6 112,454,138 (GRCm39) missense probably benign 0.08
R0961:Oxtr UTSW 6 112,454,138 (GRCm39) missense probably benign 0.08
R1099:Oxtr UTSW 6 112,454,138 (GRCm39) missense probably benign 0.08
R1101:Oxtr UTSW 6 112,454,138 (GRCm39) missense probably benign 0.08
R1102:Oxtr UTSW 6 112,454,138 (GRCm39) missense probably benign 0.08
R1344:Oxtr UTSW 6 112,454,138 (GRCm39) missense probably benign 0.08
R1401:Oxtr UTSW 6 112,454,138 (GRCm39) missense probably benign 0.08
R1682:Oxtr UTSW 6 112,454,138 (GRCm39) missense probably benign 0.08
R2254:Oxtr UTSW 6 112,466,067 (GRCm39) missense probably damaging 0.98
R3424:Oxtr UTSW 6 112,454,191 (GRCm39) missense probably benign 0.31
R3805:Oxtr UTSW 6 112,454,147 (GRCm39) missense probably benign 0.14
R4598:Oxtr UTSW 6 112,466,713 (GRCm39) missense probably benign 0.20
R5821:Oxtr UTSW 6 112,466,457 (GRCm39) missense probably damaging 1.00
R6667:Oxtr UTSW 6 112,454,060 (GRCm39) unclassified probably benign
R8551:Oxtr UTSW 6 112,465,939 (GRCm39) missense probably damaging 1.00
R8787:Oxtr UTSW 6 112,466,871 (GRCm39) unclassified probably benign
R8801:Oxtr UTSW 6 112,466,873 (GRCm39) unclassified probably benign
R9114:Oxtr UTSW 6 112,466,481 (GRCm39) missense probably damaging 1.00
R9389:Oxtr UTSW 6 112,466,310 (GRCm39) missense probably damaging 0.96
R9723:Oxtr UTSW 6 112,466,304 (GRCm39) missense probably benign 0.38
Z1176:Oxtr UTSW 6 112,466,656 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGATGGTTGAGAACAGCTCC -3'
(R):5'- TGAGACAAAGACATACCATGTGTG -3'

Sequencing Primer
(F):5'- ATGGTTGAGAACAGCTCCTCTGAC -3'
(R):5'- TGTCTTGTGATCCAGCCAG -3'
Posted On 2016-11-21