Incidental Mutation 'R6667:Oxtr'
ID 527017
Institutional Source Beutler Lab
Gene Symbol Oxtr
Ensembl Gene ENSMUSG00000049112
Gene Name oxytocin receptor
Synonyms OTR
MMRRC Submission 044787-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6667 (G1)
Quality Score 141.008
Status Validated
Chromosome 6
Chromosomal Location 112450644-112466904 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 112454060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000074922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053306] [ENSMUST00000075477] [ENSMUST00000204027]
AlphaFold P97926
Predicted Effect unknown
Transcript: ENSMUST00000053306
AA Change: S381I
SMART Domains Protein: ENSMUSP00000051132
Gene: ENSMUSG00000049112
AA Change: S381I

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

Pfam:Caveolin 15 148 9.5e-61 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000204027
AA Change: S68I
SMART Domains Protein: ENSMUSP00000145300
Gene: ENSMUSG00000049112
AA Change: S68I

SCOP:d1l9ha_ 2 56 2e-6 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 98% (41/42)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik G T 4: 124,504,435 (GRCm39) A39E probably damaging Het
Agtr1b T A 3: 20,369,913 (GRCm39) N231I possibly damaging Het
Alpk2 T C 18: 65,440,811 (GRCm39) E661G probably damaging Het
Ankrd26 C T 6: 118,484,749 (GRCm39) S1496N probably benign Het
Asah2 T C 19: 31,972,758 (GRCm39) N659S probably benign Het
Atp12a T C 14: 56,621,645 (GRCm39) V760A possibly damaging Het
Casp2 T C 6: 42,256,770 (GRCm39) C343R probably damaging Het
Cblb T A 16: 51,973,007 (GRCm39) M446K possibly damaging Het
Cipc T C 12: 87,008,864 (GRCm39) V241A probably benign Het
Ddit4l A G 3: 137,331,882 (GRCm39) K83E probably benign Het
Eif1ad10 A T 12: 88,216,475 (GRCm39) D132E unknown Het
Epc2 A G 2: 49,412,681 (GRCm39) T220A probably damaging Het
Epha5 T C 5: 84,219,050 (GRCm39) D741G probably damaging Het
Flg2 A T 3: 93,109,068 (GRCm39) R365S possibly damaging Het
Ggn A T 7: 28,872,093 (GRCm39) H491L possibly damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Ighv6-4 A G 12: 114,370,152 (GRCm39) V100A probably benign Het
Invs A T 4: 48,402,870 (GRCm39) Y501F possibly damaging Het
Iqcm G T 8: 76,479,980 (GRCm39) G313W probably damaging Het
Jph2 A G 2: 163,218,206 (GRCm39) S157P probably damaging Het
Mast4 T C 13: 102,874,004 (GRCm39) E1596G probably damaging Het
Mllt6 T A 11: 97,567,760 (GRCm39) L759Q probably damaging Het
Nalcn A G 14: 123,558,735 (GRCm39) L837P probably damaging Het
Neb G A 2: 52,037,201 (GRCm39) T6836I probably damaging Het
Nol12 T A 15: 78,824,280 (GRCm39) D133E probably benign Het
Or5w13 A G 2: 87,523,914 (GRCm39) V104A probably benign Het
Pcmt1 A G 10: 7,538,913 (GRCm39) L38P probably damaging Het
Pik3r2 T C 8: 71,221,817 (GRCm39) Y617C probably damaging Het
Potefam3b T C 8: 21,161,955 (GRCm39) S267P probably benign Het
Prl7a2 T C 13: 27,845,024 (GRCm39) N121D probably benign Het
Pvr G T 7: 19,639,727 (GRCm39) Q380K probably benign Het
Rtn2 A G 7: 19,021,184 (GRCm39) E188G probably benign Het
Setd4 C A 16: 93,386,918 (GRCm39) R260L probably benign Het
Six5 A G 7: 18,830,494 (GRCm39) N374D probably benign Het
Slc9b1 T C 3: 135,077,726 (GRCm39) I140T probably damaging Het
Supt16 A G 14: 52,409,520 (GRCm39) F797L probably damaging Het
Tbata T C 10: 61,021,142 (GRCm39) L262P probably damaging Het
Tti1 A T 2: 157,850,347 (GRCm39) C297* probably null Het
Ush1c C A 7: 45,875,048 (GRCm39) G139C probably damaging Het
Vmn1r1 C T 1: 181,985,342 (GRCm39) V108I probably benign Het
Vmn2r116 C T 17: 23,620,066 (GRCm39) T600I probably damaging Het
Zfp764l1 A G 7: 126,992,595 (GRCm39) M5T probably benign Het
Zfp873 A G 10: 81,896,423 (GRCm39) T422A probably benign Het
Zfp943 G A 17: 22,211,889 (GRCm39) C325Y 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
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
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

Sequencing Primer
Posted On 2018-07-23