Incidental Mutation 'R4598:Oxtr'
ID 345351
Institutional Source Beutler Lab
Gene Symbol Oxtr
Ensembl Gene ENSMUSG00000049112
Gene Name oxytocin receptor
Synonyms OTR
MMRRC Submission 041814-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4598 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 112450644-112466904 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 112466713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 16 (G16R)
Ref Sequence ENSEMBL: ENSMUSP00000051132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053306] [ENSMUST00000204027]
AlphaFold P97926
Predicted Effect probably benign
Transcript: ENSMUST00000053306
AA Change: G16R

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000051132
Gene: ENSMUSG00000049112
AA Change: G16R

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: ENSMUST00000204027
SMART Domains Protein: ENSMUSP00000145300
Gene: ENSMUSG00000049112

DomainStartEndE-ValueType
SCOP:d1l9ha_ 2 56 2e-6 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik G A 1: 11,818,188 (GRCm39) probably null Het
Abca14 T C 7: 119,854,626 (GRCm39) V930A probably benign Het
Abcb7 A C X: 103,366,988 (GRCm39) D135E probably benign Het
Ace T A 11: 105,872,585 (GRCm39) probably null Het
Acnat1 T C 4: 49,450,781 (GRCm39) D110G probably benign Het
Ak9 C T 10: 41,259,907 (GRCm39) P862S probably damaging Het
Atp1a3 A G 7: 24,678,766 (GRCm39) S972P probably damaging Het
Bmf C A 2: 118,379,609 (GRCm39) A56S probably benign Het
C6 T C 15: 4,792,852 (GRCm39) L319P possibly damaging Het
Cab39 A G 1: 85,776,050 (GRCm39) Y249C probably damaging Het
Cdc14b T C 13: 64,395,088 (GRCm39) T69A probably benign Het
Cep162 A G 9: 87,085,848 (GRCm39) Y1159H possibly damaging Het
Chrna7 A G 7: 62,753,538 (GRCm39) M327T probably damaging Het
Clca3a2 A T 3: 144,511,444 (GRCm39) N41K probably damaging Het
Clock T C 5: 76,383,657 (GRCm39) M499V probably benign Het
Col5a3 A G 9: 20,685,855 (GRCm39) probably null Het
Coq6 T C 12: 84,408,913 (GRCm39) V30A probably benign Het
Cyp3a57 A G 5: 145,327,227 (GRCm39) I473V probably benign Het
D430041D05Rik A T 2: 104,038,528 (GRCm39) V1547D probably damaging Het
Dhx9 TCC TC 1: 153,342,797 (GRCm39) probably null Het
Dock2 T A 11: 34,189,536 (GRCm39) Y1545F probably damaging Het
Eif4e3 T A 6: 99,617,671 (GRCm39) I67L probably benign Het
Epor A G 9: 21,873,155 (GRCm39) S86P probably benign Het
Esp31 T A 17: 38,952,012 (GRCm39) probably null Het
Esrp2 A G 8: 106,859,343 (GRCm39) M498T probably damaging Het
F5 T C 1: 164,032,366 (GRCm39) I1771T probably benign Het
Fancd2 C A 6: 113,562,438 (GRCm39) H1259Q probably benign Het
Gale C A 4: 135,695,148 (GRCm39) S341* probably null Het
Ints12 T A 3: 132,804,214 (GRCm39) I67N probably benign Het
Kat2b A G 17: 53,977,826 (GRCm39) Y791C probably benign Het
Kazn A G 4: 141,937,403 (GRCm39) V108A possibly damaging Het
Kcnma1 T C 14: 23,853,228 (GRCm39) T109A probably damaging Het
Med13 T C 11: 86,169,392 (GRCm39) T1955A probably damaging Het
Megf10 G A 18: 57,322,675 (GRCm39) probably null Het
Megf10 A T 18: 57,420,884 (GRCm39) S841C probably damaging Het
Mep1a A G 17: 43,802,469 (GRCm39) probably null Het
Mrap2 A T 9: 87,064,842 (GRCm39) E194D probably damaging Het
Msh2 A G 17: 88,016,006 (GRCm39) K546R probably damaging Het
Ndc80 T C 17: 71,828,063 (GRCm39) D88G probably damaging Het
Nrip1 A G 16: 76,089,968 (GRCm39) F530L probably damaging Het
Or2y10 T C 11: 49,455,545 (GRCm39) S266P probably damaging Het
Or52e7 A C 7: 104,685,280 (GRCm39) I292L probably benign Het
Or6c216 T C 10: 129,678,864 (GRCm39) T16A possibly damaging Het
Or9i16 A T 19: 13,865,381 (GRCm39) H64Q probably damaging Het
Pdgfrb A T 18: 61,201,829 (GRCm39) K464N probably benign Het
Pja2 A T 17: 64,620,025 (GRCm39) M1K probably null Het
Pkhd1 A T 1: 20,573,280 (GRCm39) N1875K probably damaging Het
Pogz T C 3: 94,787,491 (GRCm39) S1360P possibly damaging Het
Proc A T 18: 32,256,512 (GRCm39) L385Q probably damaging Het
Ptprm A G 17: 67,402,492 (GRCm39) I132T probably benign Het
Rpgr A G X: 10,062,255 (GRCm39) S343P probably benign Het
Rsu1 T C 2: 13,174,815 (GRCm39) Y225C probably damaging Het
Scyl1 A G 19: 5,820,481 (GRCm39) S118P probably damaging Het
Sec61a1 T C 6: 88,483,131 (GRCm39) N414D probably benign Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Sema7a A G 9: 57,860,834 (GRCm39) D65G probably benign Het
Slc25a45 A G 19: 5,934,464 (GRCm39) Y144C probably damaging Het
Slc26a6 A G 9: 108,733,579 (GRCm39) Y103C probably damaging Het
Stat3 C T 11: 100,794,500 (GRCm39) D270N probably damaging Het
Taar8b T C 10: 23,967,736 (GRCm39) S153G probably benign Het
Top1 A G 2: 160,562,885 (GRCm39) E697G possibly damaging Het
Trappc11 G A 8: 47,966,801 (GRCm39) T470I probably damaging Het
Ttc7b G A 12: 100,466,376 (GRCm39) R79C probably damaging Het
Usp29 A G 7: 6,965,479 (GRCm39) T441A probably benign Het
Vmn2r110 A T 17: 20,804,029 (GRCm39) L182* probably null Het
Zgrf1 T C 3: 127,394,679 (GRCm39) I1345T probably benign Het
Zscan25 G T 5: 145,227,815 (GRCm39) R493L probably benign 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
R5757:Oxtr UTSW 6 112,454,222 (GRCm39) missense probably damaging 1.00
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'- CGATGCTCAGGTGCTTCATG -3'
(R):5'- AACGGTCTTGTCACGGTTCTC -3'

Sequencing Primer
(F):5'- TGCTCAGGTGCTTCATGAAAAAG -3'
(R):5'- TTGTTTCAGGGAGAGGACAGGC -3'
Posted On 2015-09-25