Incidental Mutation 'R1769:Oxt'
ID 194664
Institutional Source Beutler Lab
Gene Symbol Oxt
Ensembl Gene ENSMUSG00000027301
Gene Name oxytocin
Synonyms Oxy
MMRRC Submission 039800-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R1769 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 130576173-130577054 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130576300 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 31 (R31W)
Ref Sequence ENSEMBL: ENSMUSP00000028764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028764] [ENSMUST00000046001]
AlphaFold P35454
Predicted Effect probably damaging
Transcript: ENSMUST00000028764
AA Change: R31W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028764
Gene: ENSMUSG00000027301
AA Change: R31W

signal peptide 1 19 N/A INTRINSIC
Pfam:Hormone_4 20 28 1.4e-6 PFAM
NH 39 116 2.16e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000046001
SMART Domains Protein: ENSMUSP00000035551
Gene: ENSMUSG00000037727

signal peptide 1 23 N/A INTRINSIC
Pfam:Hormone_4 24 32 9.9e-7 PFAM
NH 43 120 3.19e-50 SMART
low complexity region 143 150 N/A INTRINSIC
Meta Mutation Damage Score 0.8696 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency 100% (91/91)
MGI Phenotype FUNCTION: This gene encodes a preproprotein that is processed to produce oxytocin and neurophysin 1. Oxytocin is a posterior pituitary hormone which is synthesized as an inactive precursor in the hypothalamus along with its carrier protein neurophysin 1. Together with neurophysin, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis, where it is either stored or secreted into the bloodstream. The precursor seems to be activated while it is being transported along the axon to the posterior pituitary. This hormone contracts smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation, the stress response and complex sexual and maternal behavior, as well as in the regulation of water excretion, salt appetite, blood pressure and cardiovascular functions. Deletion of this gene in mouse reduces bone formation resulting in osteoporosis. [provided by RefSeq, Dec 2013]
PHENOTYPE: Female homozygotes for targeted null mutations are unable to release milk for their suckling pups, while mutant males fail to develop social memory and are less aggressive. Both genders exhibit increased salt intake. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik A G 6: 50,591,821 (GRCm38) probably benign Het
A430033K04Rik A G 5: 138,646,257 (GRCm38) I135V probably benign Het
Abca1 T A 4: 53,074,325 (GRCm38) K1119N probably damaging Het
Abcb10 C T 8: 123,962,052 (GRCm38) G495D probably damaging Het
Abcc9 T C 6: 142,627,468 (GRCm38) probably benign Het
Akap3 A G 6: 126,865,846 (GRCm38) E476G possibly damaging Het
Aldh3b1 A G 19: 3,918,740 (GRCm38) F271S probably damaging Het
Alkbh2 C T 5: 114,124,226 (GRCm38) E148K probably damaging Het
Ascc3 T C 10: 50,700,490 (GRCm38) V847A probably damaging Het
Best3 A G 10: 117,023,978 (GRCm38) N381S probably benign Het
Blm A T 7: 80,513,370 (GRCm38) S78T probably benign Het
Bmpr2 T A 1: 59,868,361 (GRCm38) L871Q probably damaging Het
Car13 T A 3: 14,650,735 (GRCm38) H104Q probably benign Het
Ccdc39 T C 3: 33,826,480 (GRCm38) K446R probably damaging Het
Ccnb1ip1 T C 14: 50,792,111 (GRCm38) M165V probably benign Het
Cd4 A T 6: 124,866,655 (GRCm38) M431K possibly damaging Het
Cdh7 C T 1: 110,052,876 (GRCm38) T178I probably damaging Het
Ceacam3 C T 7: 17,158,376 (GRCm38) T348I probably damaging Het
Cfap54 C T 10: 92,904,263 (GRCm38) probably null Het
Clcn6 A T 4: 148,014,301 (GRCm38) probably null Het
Csf3 A G 11: 98,702,420 (GRCm38) Y121C probably damaging Het
Csmd3 C T 15: 47,704,109 (GRCm38) probably benign Het
Cyp2c69 A G 19: 39,876,371 (GRCm38) I221T probably benign Het
Dgcr2 T C 16: 17,857,251 (GRCm38) probably benign Het
Dhcr7 T C 7: 143,847,513 (GRCm38) F474S probably damaging Het
Dnah1 T C 14: 31,310,882 (GRCm38) I399V probably null Het
Efcab14 T A 4: 115,752,991 (GRCm38) L183Q probably damaging Het
Elmsan1 G A 12: 84,158,350 (GRCm38) probably benign Het
Evx2 A G 2: 74,659,157 (GRCm38) V88A probably benign Het
Exph5 A G 9: 53,373,809 (GRCm38) N730S probably benign Het
Farsb T A 1: 78,466,983 (GRCm38) K196I probably benign Het
Fbln7 C T 2: 128,893,762 (GRCm38) probably benign Het
Fhdc1 A G 3: 84,448,778 (GRCm38) F453S probably damaging Het
Gast T A 11: 100,336,858 (GRCm38) W89R probably damaging Het
Gata2 A G 6: 88,205,255 (GRCm38) S402G probably benign Het
Gin1 T A 1: 97,792,437 (GRCm38) S386T probably benign Het
Golgb1 A G 16: 36,916,001 (GRCm38) E1870G probably damaging Het
Hivep3 T A 4: 120,097,571 (GRCm38) V1028E possibly damaging Het
Ifi203 G A 1: 173,928,760 (GRCm38) R486* probably null Het
Ifi209 G A 1: 173,641,162 (GRCm38) S186N probably benign Het
Ifih1 C T 2: 62,606,394 (GRCm38) A562T probably damaging Het
Itch T C 2: 155,172,561 (GRCm38) L106S probably damaging Het
Itga4 T A 2: 79,315,706 (GRCm38) probably null Het
Kdm4c A G 4: 74,280,997 (GRCm38) S141G possibly damaging Het
Kirrel C T 3: 87,089,151 (GRCm38) M380I probably null Het
Klra3 T C 6: 130,330,263 (GRCm38) probably null Het
Lama2 A T 10: 27,208,406 (GRCm38) S923T probably damaging Het
Lama2 G C 10: 27,208,407 (GRCm38) F922L probably benign Het
Llgl1 G A 11: 60,707,047 (GRCm38) V331M probably damaging Het
Lrrc30 T C 17: 67,631,681 (GRCm38) *301W probably null Het
Map1lc3b C T 8: 121,593,487 (GRCm38) probably benign Het
Mbd2 A G 18: 70,616,619 (GRCm38) I302V probably benign Het
Med27 A G 2: 29,500,295 (GRCm38) Y78C probably damaging Het
Mei1 C T 15: 82,112,570 (GRCm38) probably null Het
Miga1 T C 3: 152,287,554 (GRCm38) E346G probably damaging Het
Myef2 A G 2: 125,115,443 (GRCm38) S131P probably damaging Het
Myocd T C 11: 65,178,701 (GRCm38) H899R probably benign Het
Ncam1 A G 9: 49,545,256 (GRCm38) probably benign Het
Ngf T A 3: 102,520,197 (GRCm38) N87K possibly damaging Het
Nol10 T A 12: 17,416,708 (GRCm38) probably benign Het
Nrip2 A G 6: 128,408,268 (GRCm38) I221V probably benign Het
Nup205 G A 6: 35,205,431 (GRCm38) G777D probably damaging Het
Olfr1446 A G 19: 12,889,683 (GRCm38) V298A probably damaging Het
Olfr199 A G 16: 59,215,981 (GRCm38) F211L probably benign Het
Olfr802 T A 10: 129,682,212 (GRCm38) T176S probably benign Het
Olfr855 A T 9: 19,585,386 (GRCm38) Q283L probably damaging Het
Olfr974 G T 9: 39,942,955 (GRCm38) D232Y probably benign Het
Pde4dip A G 3: 97,695,930 (GRCm38) S2248P probably benign Het
Pias1 A G 9: 62,952,178 (GRCm38) V16A probably damaging Het
Pkp2 T C 16: 16,262,697 (GRCm38) S616P probably damaging Het
Plch2 T C 4: 155,000,083 (GRCm38) Y379C probably damaging Het
Pnpt1 A G 11: 29,154,159 (GRCm38) N540D probably benign Het
Ptpn23 G A 9: 110,391,678 (GRCm38) H255Y possibly damaging Het
Rad21 T C 15: 51,972,307 (GRCm38) N237D probably benign Het
Ryr3 A C 2: 112,751,768 (GRCm38) probably null Het
Sgk1 C A 10: 21,997,108 (GRCm38) probably benign Het
Slc1a5 G T 7: 16,797,539 (GRCm38) A490S probably damaging Het
Slc5a8 T A 10: 88,919,466 (GRCm38) Y478* probably null Het
Slc5a8 T C 10: 88,919,464 (GRCm38) Y478H probably benign Het
Slc9a3 A T 13: 74,163,071 (GRCm38) M562L probably benign Het
Thsd7a G A 6: 12,555,715 (GRCm38) R57* probably null Het
Tiam1 T C 16: 89,860,279 (GRCm38) R690G probably damaging Het
Tmem150b A G 7: 4,724,366 (GRCm38) S47P probably damaging Het
Trim39 C T 17: 36,263,940 (GRCm38) R190Q probably damaging Het
Ttc32 A T 12: 9,035,073 (GRCm38) I98L possibly damaging Het
Vps13c A G 9: 67,965,721 (GRCm38) T3304A probably benign Het
Wdr35 A C 12: 9,012,728 (GRCm38) D638A probably damaging Het
Wwc1 G T 11: 35,861,844 (GRCm38) P797T probably benign Het
Zan T A 5: 137,464,518 (GRCm38) T800S unknown Het
Zbbx A G 3: 75,083,619 (GRCm38) probably benign Het
Zufsp T C 10: 33,935,176 (GRCm38) M291V probably damaging Het
Other mutations in Oxt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02322:Oxt APN 2 130,576,280 (GRCm38) missense probably damaging 1.00
R2011:Oxt UTSW 2 130,576,652 (GRCm38) missense probably damaging 1.00
R2012:Oxt UTSW 2 130,576,652 (GRCm38) missense probably damaging 1.00
R5796:Oxt UTSW 2 130,576,613 (GRCm38) missense probably damaging 0.99
R6140:Oxt UTSW 2 130,576,271 (GRCm38) missense probably damaging 1.00
R6175:Oxt UTSW 2 130,576,243 (GRCm38) unclassified probably benign
R7657:Oxt UTSW 2 130,576,790 (GRCm38) missense possibly damaging 0.51
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-23