Incidental Mutation 'R6140:Oxt'
ID 488523
Institutional Source Beutler Lab
Gene Symbol Oxt
Ensembl Gene ENSMUSG00000027301
Gene Name oxytocin
Synonyms Oxy
MMRRC Submission 044287-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R6140 (G1)
Quality Score 107.008
Status Validated
Chromosome 2
Chromosomal Location 130418093-130418974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 130418191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 21 (Y21C)
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: Y21C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028764
Gene: ENSMUSG00000027301
AA Change: Y21C

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
Meta Mutation Damage Score 0.9232 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.2%
  • 10x: 96.9%
  • 20x: 91.8%
Validation Efficiency 100% (46/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik T C 12: 17,055,923 (GRCm39) probably benign Het
Adgra2 A T 8: 27,605,433 (GRCm39) R593W probably damaging Het
Agfg2 T C 5: 137,665,347 (GRCm39) Q136R probably damaging Het
Ankrd42 T C 7: 92,241,036 (GRCm39) probably null Het
Baz2b T C 2: 59,742,871 (GRCm39) D1643G probably damaging Het
Ccdc171 C T 4: 83,614,554 (GRCm39) Q1060* probably null Het
Cela1 C T 15: 100,579,037 (GRCm39) R207H probably benign Het
Cfhr4 A G 1: 139,660,133 (GRCm39) V664A probably damaging Het
Clic6 A G 16: 92,336,380 (GRCm39) R563G probably damaging Het
Cspg4 A T 9: 56,804,508 (GRCm39) H1773L probably benign Het
Ddrgk1 A G 2: 130,500,534 (GRCm39) V204A probably benign Het
Dhrs7c A T 11: 67,705,900 (GRCm39) T218S probably damaging Het
Dlgap4 A T 2: 156,604,649 (GRCm39) probably null Het
Hgd A T 16: 37,410,075 (GRCm39) Y37F probably benign Het
Hmcn1 A C 1: 150,608,597 (GRCm39) N1528K probably damaging Het
Hps3 A G 3: 20,051,151 (GRCm39) F843S probably damaging Het
Ifih1 A G 2: 62,431,804 (GRCm39) F800S possibly damaging Het
Igsf21 T A 4: 139,834,684 (GRCm39) T63S probably benign Het
Il18rap T G 1: 40,564,212 (GRCm39) M110R probably benign Het
Kcnk2 G T 1: 188,942,104 (GRCm39) H384Q probably damaging Het
Lima1 C T 15: 99,678,939 (GRCm39) V341M probably damaging Het
Lins1 T C 7: 66,361,672 (GRCm39) L441P probably damaging Het
Lss T C 10: 76,386,522 (GRCm39) Y642H probably damaging Het
Mrc2 A G 11: 105,237,615 (GRCm39) T1098A probably benign Het
Nf1 T A 11: 79,364,146 (GRCm39) probably null Het
Nrdc G T 4: 108,906,308 (GRCm39) A730S probably damaging Het
Nup214 C T 2: 31,941,808 (GRCm39) T72I possibly damaging Het
Or6c213 T G 10: 129,574,523 (GRCm39) K88Q possibly damaging Het
Or8g33 A G 9: 39,337,543 (GRCm39) S275P possibly damaging Het
Or8k35 A T 2: 86,424,448 (GRCm39) C241* probably null Het
Pla2g12b G A 10: 59,257,263 (GRCm39) probably benign Het
Ralgapb T C 2: 158,298,492 (GRCm39) V907A probably damaging Het
Rnls A T 19: 33,115,600 (GRCm39) D157E probably damaging Het
Slc7a14 C A 3: 31,291,697 (GRCm39) V194L probably benign Het
Slc7a7 G A 14: 54,616,515 (GRCm39) T189I probably damaging Het
Snupn C A 9: 56,890,108 (GRCm39) Q310K possibly damaging Het
Ssh1 A G 5: 114,080,692 (GRCm39) Y891H probably benign Het
Suclg2 T C 6: 95,546,702 (GRCm39) D258G probably damaging Het
Tpk1 A T 6: 43,400,635 (GRCm39) M129K probably benign Het
Ubr3 A G 2: 69,803,673 (GRCm39) I1088V probably benign Het
Vmn1r3 A G 4: 3,185,031 (GRCm39) I92T probably damaging Het
Vmn2r69 G A 7: 85,060,657 (GRCm39) S309F probably damaging Het
Wsb1 A T 11: 79,132,444 (GRCm39) H325Q probably damaging Het
Zfp263 A G 16: 3,566,081 (GRCm39) S281G probably benign Het
Zfp507 A G 7: 35,493,613 (GRCm39) S477P probably damaging Het
Other mutations in Oxt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02322:Oxt APN 2 130,418,200 (GRCm39) missense probably damaging 1.00
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
R6175:Oxt UTSW 2 130,418,163 (GRCm39) unclassified probably benign
R7657:Oxt UTSW 2 130,418,710 (GRCm39) missense possibly damaging 0.51
Predicted Primers PCR Primer
(F):5'- TCTGTGACCAGTCATGCTGTC -3'
(R):5'- GGGAGCCTAACACTTCCCAAAG -3'

Sequencing Primer
(F):5'- ATGCTGTCACCCTCTTTAGACAGTG -3'
(R):5'- AAAGCCCTGGGTTCCCAC -3'
Posted On 2017-10-10