Incidental Mutation 'R9114:Oxtr'
ID 692407
Institutional Source Beutler Lab
Gene Symbol Oxtr
Ensembl Gene ENSMUSG00000049112
Gene Name oxytocin receptor
Synonyms OTR
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9114 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 112450644-112466904 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112466481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 93 (V93A)
Ref Sequence ENSEMBL: ENSMUSP00000051132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053306] [ENSMUST00000204027]
AlphaFold P97926
Predicted Effect probably damaging
Transcript: ENSMUST00000053306
AA Change: V93A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051132
Gene: ENSMUSG00000049112
AA Change: V93A

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,788,702 (GRCm39) L1027* probably null Het
Actl11 T A 9: 107,808,509 (GRCm39) M944K possibly damaging Het
Afap1l2 T C 19: 56,906,427 (GRCm39) K491E probably damaging Het
Ahr A T 12: 35,561,164 (GRCm39) D150E probably damaging Het
Arhgef1 T A 7: 24,607,304 (GRCm39) L17Q probably damaging Het
Bysl A G 17: 47,915,242 (GRCm39) S169P Het
C4b A T 17: 34,948,404 (GRCm39) F1610I probably damaging Het
Chtf8 C A 8: 107,612,481 (GRCm39) A153S probably benign Het
Ciapin1 C T 8: 95,558,400 (GRCm39) probably null Het
Cnnm1 A G 19: 43,429,395 (GRCm39) E171G possibly damaging Het
Crybb3 T C 5: 113,225,407 (GRCm39) N155S probably benign Het
Dclk3 T A 9: 111,317,683 (GRCm39) M773K probably benign Het
Ddx18 A T 1: 121,489,267 (GRCm39) V260D probably damaging Het
Dmxl2 T A 9: 54,307,321 (GRCm39) N2216Y Het
Epn2 T C 11: 61,437,446 (GRCm39) E42G probably damaging Het
Esrrg C A 1: 187,878,605 (GRCm39) P229T probably benign Het
Esrrg C A 1: 187,878,606 (GRCm39) P229Q possibly damaging Het
Ethe1 G T 7: 24,305,643 (GRCm39) R130L probably benign Het
Fgl2 G A 5: 21,580,363 (GRCm39) C235Y probably damaging Het
Fmnl1 C T 11: 103,087,327 (GRCm39) T890M unknown Het
Fsip2 C G 2: 82,807,301 (GRCm39) P1207A probably benign Het
Gc C T 5: 89,593,165 (GRCm39) D85N possibly damaging Het
Gfi1 G A 5: 107,869,370 (GRCm39) R287W probably damaging Het
Gm3629 T C 14: 17,834,566 (GRCm39) probably null Het
Hapln3 A G 7: 78,771,712 (GRCm39) F59S probably benign Het
Il24 G A 1: 130,813,483 (GRCm39) T38I possibly damaging Het
Izumo1 A G 7: 45,276,583 (GRCm39) D382G probably benign Het
Kdm5a T A 6: 120,382,887 (GRCm39) Y739* probably null Het
Kif2b T A 11: 91,466,538 (GRCm39) I582F possibly damaging Het
Klhdc1 A G 12: 69,288,783 (GRCm39) Y31C probably damaging Het
Lama1 G A 17: 68,128,669 (GRCm39) E3009K Het
Mad2l1bp G A 17: 46,458,958 (GRCm39) R191C probably damaging Het
Mark1 A C 1: 184,644,261 (GRCm39) S468A probably damaging Het
Mknk2 T A 10: 80,504,823 (GRCm39) N236Y probably damaging Het
Muc2 T A 7: 141,287,983 (GRCm39) C251* probably null Het
Nacad T C 11: 6,552,252 (GRCm39) D313G probably damaging Het
Neb G T 2: 52,099,599 (GRCm39) D4750E probably benign Het
Nlrp6 T C 7: 140,506,332 (GRCm39) S758P probably damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or13a28 A C 7: 140,218,282 (GRCm39) I223L probably benign Het
Or51b4 T C 7: 103,530,569 (GRCm39) T294A possibly damaging Het
Or8b3b A G 9: 38,583,892 (GRCm39) F283L probably benign Het
Pbx3 C A 2: 34,103,271 (GRCm39) D234Y probably damaging Het
Pde4b A T 4: 102,459,826 (GRCm39) T554S probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pid1 A T 1: 84,015,955 (GRCm39) Y151N probably damaging Het
Plcd4 A G 1: 74,591,307 (GRCm39) E234G possibly damaging Het
Pou6f1 A G 15: 100,478,789 (GRCm39) V373A probably benign Het
Ppp1r12c T C 7: 4,485,792 (GRCm39) K685E possibly damaging Het
Rnf34 T A 5: 122,999,957 (GRCm39) V71D probably damaging Het
Rpap2 T G 5: 107,746,156 (GRCm39) H11Q possibly damaging Het
Skint2 A G 4: 112,496,834 (GRCm39) T247A probably benign Het
Stat5b T A 11: 100,692,350 (GRCm39) N145Y probably damaging Het
Sv2b A G 7: 74,856,017 (GRCm39) L91P probably damaging Het
Syt1 A G 10: 108,340,376 (GRCm39) I314T probably damaging Het
Tlk1 A T 2: 70,572,502 (GRCm39) N355K probably benign Het
Tnc C A 4: 63,890,973 (GRCm39) M1636I probably benign Het
Trank1 C A 9: 111,162,843 (GRCm39) A34D probably damaging Het
Unc13c A G 9: 73,719,665 (GRCm39) I1001T probably benign Het
Vdr T C 15: 97,765,136 (GRCm39) D201G probably benign Het
Vmn2r115 A T 17: 23,564,307 (GRCm39) I160L probably benign Het
Wdr81 C A 11: 75,335,250 (GRCm39) R1772L probably damaging Het
Zfp457 T C 13: 67,442,068 (GRCm39) D169G 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
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
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
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'- GAGAAAATGTGCACCTGCGG -3'
(R):5'- CTGGAGTATCGAGTTGGACCTC -3'

Sequencing Primer
(F):5'- CCAGGCGGTCGGTTCGG -3'
(R):5'- ACCTCGGGAGTGGAGTG -3'
Posted On 2021-12-30