Incidental Mutation 'IGL02322:Oxt'
ID 288265
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oxt
Ensembl Gene ENSMUSG00000027301
Gene Name oxytocin
Synonyms Oxy
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # IGL02322
Quality Score
Status
Chromosome 2
Chromosomal Location 130418093-130418974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130418200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 24 (N24I)
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: N24I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028764
Gene: ENSMUSG00000027301
AA Change: N24I

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acd G A 8: 106,425,268 (GRCm39) A355V probably benign Het
Adam9 A G 8: 25,445,990 (GRCm39) V801A probably damaging Het
Ankrd36 T A 11: 5,564,619 (GRCm39) V479D possibly damaging Het
Arid5a C T 1: 36,358,497 (GRCm39) P423L probably benign Het
Atp13a4 T C 16: 29,258,920 (GRCm39) I650V probably benign Het
B4gat1 C A 19: 5,089,155 (GRCm39) P51T possibly damaging Het
Caskin2 G A 11: 115,695,303 (GRCm39) T310M probably damaging Het
Ccdc121rt1 A G 1: 181,337,999 (GRCm39) S318P possibly damaging Het
Ccdc159 G T 9: 21,840,669 (GRCm39) V79L possibly damaging Het
Ccser2 A T 14: 36,631,086 (GRCm39) V18E probably damaging Het
Cct8l1 T C 5: 25,722,581 (GRCm39) V432A probably benign Het
Cdh11 A T 8: 103,374,151 (GRCm39) F529Y probably benign Het
Cep250 A G 2: 155,832,248 (GRCm39) E1370G probably damaging Het
Col22a1 C A 15: 71,694,502 (GRCm39) G717C unknown Het
Csmd2 T C 4: 128,357,520 (GRCm39) probably benign Het
Ctrb1 A C 8: 112,415,951 (GRCm39) probably null Het
Cyp2b19 T C 7: 26,461,803 (GRCm39) S208P possibly damaging Het
Dnmt3l T A 10: 77,888,572 (GRCm39) I158N possibly damaging Het
Evi5l T C 8: 4,237,236 (GRCm39) probably benign Het
Fkbpl A G 17: 34,864,298 (GRCm39) E22G probably benign Het
Flnb T A 14: 7,894,676 (GRCm38) F825I probably damaging Het
Gjb6 A T 14: 57,361,732 (GRCm39) N176K probably damaging Het
Gpc2 G T 5: 138,274,499 (GRCm39) probably null Het
H1f7 T C 15: 98,154,757 (GRCm39) T131A possibly damaging Het
Il20 C T 1: 130,837,313 (GRCm39) C104Y probably damaging Het
Mgat5 A G 1: 127,310,722 (GRCm39) N212S probably benign Het
Olfm5 C T 7: 103,803,608 (GRCm39) G210D probably damaging Het
Olig2 T C 16: 91,023,546 (GRCm39) S87P probably benign Het
Or2y15 A G 11: 49,350,784 (GRCm39) S93G probably benign Het
Or4c121 T A 2: 89,023,806 (GRCm39) T191S probably damaging Het
Osbpl7 G T 11: 96,946,950 (GRCm39) A418S probably benign Het
Otog G T 7: 45,950,881 (GRCm39) R2551L probably benign Het
Pibf1 A G 14: 99,448,419 (GRCm39) Y626C probably damaging Het
Plekhh2 A T 17: 84,896,894 (GRCm39) K934* probably null Het
Pramel14 G A 4: 143,718,591 (GRCm39) probably benign Het
Prdm9 A T 17: 15,783,110 (GRCm39) N57K probably damaging Het
Rapsn A G 2: 90,872,251 (GRCm39) D195G possibly damaging Het
Rimbp3 T G 16: 17,029,479 (GRCm39) F968V probably benign Het
Rpgrip1 A G 14: 52,387,499 (GRCm39) N1047S possibly damaging Het
Slc35g1 C T 19: 38,389,013 (GRCm39) R107* probably null Het
Ssh2 A C 11: 77,307,239 (GRCm39) probably null Het
Tiparp C A 3: 65,439,441 (GRCm39) C70* probably null Het
Vmn2r110 A G 17: 20,794,197 (GRCm39) I824T probably damaging Het
Vmn2r78 T C 7: 86,570,687 (GRCm39) S402P probably damaging Het
Vps13c A G 9: 67,845,183 (GRCm39) E2089G probably benign Het
Xirp2 A T 2: 67,339,082 (GRCm39) H441L probably benign Het
Zdhhc3 C T 9: 122,929,542 (GRCm39) G31D probably benign Het
Zfp330 A G 8: 83,497,450 (GRCm39) L64S probably damaging Het
Other mutations in Oxt
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1769:Oxt UTSW 2 130,418,220 (GRCm39) missense probably damaging 1.00
R2011:Oxt UTSW 2 130,418,572 (GRCm39) missense probably damaging 1.00
R2012:Oxt UTSW 2 130,418,572 (GRCm39) missense probably damaging 1.00
R5796:Oxt UTSW 2 130,418,533 (GRCm39) missense probably damaging 0.99
R6140:Oxt UTSW 2 130,418,191 (GRCm39) missense probably damaging 1.00
R6175:Oxt UTSW 2 130,418,163 (GRCm39) unclassified probably benign
R7657:Oxt UTSW 2 130,418,710 (GRCm39) missense possibly damaging 0.51
Posted On 2015-04-16