Incidental Mutation 'R5818:Onecut2'
ID 449195
Institutional Source Beutler Lab
Gene Symbol Onecut2
Ensembl Gene ENSMUSG00000045991
Gene Name one cut domain, family member 2
Synonyms OC-2, Oc2
MMRRC Submission 043398-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.765) question?
Stock # R5818 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 64473098-64531559 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 64474046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 180 (M180K)
Ref Sequence ENSEMBL: ENSMUSP00000135692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115145] [ENSMUST00000175965]
AlphaFold Q6XBJ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000115145
AA Change: M199K

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110798
Gene: ENSMUSG00000045991
AA Change: M199K

DomainStartEndE-ValueType
low complexity region 34 56 N/A INTRINSIC
low complexity region 92 111 N/A INTRINSIC
low complexity region 146 158 N/A INTRINSIC
low complexity region 167 185 N/A INTRINSIC
low complexity region 311 323 N/A INTRINSIC
CUT 326 411 1e-42 SMART
HOX 427 489 2.63e-12 SMART
low complexity region 491 501 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000175965
AA Change: M180K

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135692
Gene: ENSMUSG00000045991
AA Change: M180K

DomainStartEndE-ValueType
low complexity region 15 37 N/A INTRINSIC
low complexity region 73 92 N/A INTRINSIC
low complexity region 127 139 N/A INTRINSIC
low complexity region 148 166 N/A INTRINSIC
low complexity region 292 304 N/A INTRINSIC
CUT 307 392 1e-42 SMART
HOX 408 470 2.63e-12 SMART
low complexity region 472 482 N/A INTRINSIC
Meta Mutation Damage Score 0.3905 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency 100% (64/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the onecut family of transcription factors, which are characterized by a cut domain and an atypical homeodomain. The protein binds to specific DNA sequences and stimulates expression of target genes, including genes involved in melanocyte and hepatocyte differentiation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in abnormal bile duct development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,110,469 (GRCm39) V560D probably damaging Het
Actn4 A G 7: 28,618,444 (GRCm39) I72T probably damaging Het
Adam33 A T 2: 130,896,278 (GRCm39) C440S possibly damaging Het
Bace1 T C 9: 45,770,347 (GRCm39) I361T possibly damaging Het
Bend6 T C 1: 33,922,654 (GRCm39) probably benign Het
Bpifb9a T G 2: 154,104,215 (GRCm39) N219K probably damaging Het
Cacna1g C A 11: 94,308,946 (GRCm39) K1634N probably damaging Het
Cdk18 A G 1: 132,046,836 (GRCm39) probably null Het
Chrng G A 1: 87,137,523 (GRCm39) V320I probably benign Het
Corin G T 5: 72,592,738 (GRCm39) H87N probably benign Het
Cps1 A T 1: 67,205,647 (GRCm39) I557F possibly damaging Het
Cyp4a29 T C 4: 115,104,229 (GRCm39) V99A possibly damaging Het
Dach1 T C 14: 98,406,120 (GRCm39) D209G probably damaging Het
Dgat1 G A 15: 76,386,407 (GRCm39) probably benign Het
Eif1ad8 T G 12: 87,563,830 (GRCm39) V55G possibly damaging Het
Fbxw26 G T 9: 109,561,634 (GRCm39) R187S probably benign Het
Gabrd G A 4: 155,472,818 (GRCm39) P122S probably damaging Het
Gm11677 C T 11: 111,615,537 (GRCm39) noncoding transcript Het
Hif1a A G 12: 73,986,338 (GRCm39) Q343R possibly damaging Het
Hyou1 G A 9: 44,300,223 (GRCm39) probably null Het
Igfn1 A T 1: 135,893,864 (GRCm39) I2072K possibly damaging Het
Itprid2 T A 2: 79,474,937 (GRCm39) S299T probably damaging Het
Kash5 C T 7: 44,843,383 (GRCm39) probably null Het
Kctd8 C T 5: 69,454,054 (GRCm39) A328T probably benign Het
Krt10 A G 11: 99,279,597 (GRCm39) Y188H probably damaging Het
Krtap4-16 T A 11: 99,742,349 (GRCm39) Q17L unknown Het
Larp4b T A 13: 9,208,596 (GRCm39) S416R probably benign Het
Lmtk2 G A 5: 144,093,718 (GRCm39) V232M probably benign Het
Mroh4 A G 15: 74,483,831 (GRCm39) I571T probably damaging Het
Myo15a G A 11: 60,388,777 (GRCm39) R2021Q probably benign Het
Npl G A 1: 153,411,661 (GRCm39) R63C probably damaging Het
Ntn4 A G 10: 93,480,626 (GRCm39) I80V probably benign Het
Numb C T 12: 83,872,028 (GRCm39) probably null Het
Nusap1 A C 2: 119,465,994 (GRCm39) M205L possibly damaging Het
Or10d1b T C 9: 39,613,661 (GRCm39) S135G probably benign Het
Pmfbp1 T C 8: 110,265,311 (GRCm39) probably null Het
Ppfia1 T C 7: 144,074,305 (GRCm39) probably benign Het
Ppm1b A G 17: 85,301,147 (GRCm39) K9R probably benign Het
Rab11fip3 T C 17: 26,235,090 (GRCm39) S608G probably damaging Het
Smim8 TTTAATGAAGAGCT TT 4: 34,771,261 (GRCm39) probably benign Het
Sohlh2 A G 3: 55,097,922 (GRCm39) T125A probably damaging Het
Tet1 C A 10: 62,652,187 (GRCm39) M1610I possibly damaging Het
Tgfbr3 A T 5: 107,280,869 (GRCm39) D630E probably benign Het
Thnsl2 T C 6: 71,111,127 (GRCm39) D247G probably benign Het
Tmem198b G A 10: 128,638,057 (GRCm39) R169W probably benign Het
Tmem201 G A 4: 149,811,849 (GRCm39) A332V probably benign Het
Tsku T C 7: 98,001,305 (GRCm39) D342G possibly damaging Het
Ucn2 A T 9: 108,815,565 (GRCm39) H109L probably benign Het
Virma T G 4: 11,513,319 (GRCm39) L391R possibly damaging Het
Vmn1r60 T A 7: 5,548,098 (GRCm39) M1L probably benign Het
Vmn2r76 T C 7: 85,879,142 (GRCm39) H386R probably benign Het
Zfp608 C T 18: 55,028,468 (GRCm39) R1315Q probably benign Het
Zmym2 A G 14: 57,183,986 (GRCm39) T983A probably benign Het
Zscan26 A G 13: 21,629,931 (GRCm39) S65P probably benign Het
Other mutations in Onecut2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01350:Onecut2 APN 18 64,474,160 (GRCm39) missense probably damaging 1.00
IGL01712:Onecut2 APN 18 64,519,673 (GRCm39) missense probably damaging 0.97
IGL01925:Onecut2 APN 18 64,474,585 (GRCm39) missense probably damaging 1.00
IGL03105:Onecut2 APN 18 64,474,579 (GRCm39) nonsense probably null
R0197:Onecut2 UTSW 18 64,474,543 (GRCm39) missense possibly damaging 0.91
R0504:Onecut2 UTSW 18 64,473,820 (GRCm39) missense possibly damaging 0.72
R1514:Onecut2 UTSW 18 64,474,651 (GRCm39) missense possibly damaging 0.93
R2314:Onecut2 UTSW 18 64,474,268 (GRCm39) missense probably damaging 0.99
R3923:Onecut2 UTSW 18 64,474,591 (GRCm39) missense probably damaging 0.98
R3924:Onecut2 UTSW 18 64,474,591 (GRCm39) missense probably damaging 0.98
R3925:Onecut2 UTSW 18 64,474,591 (GRCm39) missense probably damaging 0.98
R4888:Onecut2 UTSW 18 64,473,998 (GRCm39) missense possibly damaging 0.86
R5995:Onecut2 UTSW 18 64,474,619 (GRCm39) missense probably damaging 0.99
R7132:Onecut2 UTSW 18 64,473,983 (GRCm39) missense possibly damaging 0.79
R7232:Onecut2 UTSW 18 64,474,633 (GRCm39) missense probably damaging 1.00
R7250:Onecut2 UTSW 18 64,519,511 (GRCm39) missense probably benign 0.21
R7631:Onecut2 UTSW 18 64,474,046 (GRCm39) missense possibly damaging 0.53
R7887:Onecut2 UTSW 18 64,474,046 (GRCm39) missense possibly damaging 0.53
R7891:Onecut2 UTSW 18 64,474,046 (GRCm39) missense possibly damaging 0.53
R7900:Onecut2 UTSW 18 64,474,658 (GRCm39) missense probably damaging 0.97
R8176:Onecut2 UTSW 18 64,473,931 (GRCm39) missense possibly damaging 0.62
R9189:Onecut2 UTSW 18 64,473,890 (GRCm39) missense probably damaging 1.00
Z1177:Onecut2 UTSW 18 64,474,378 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- ACACCACGCCATGAGTATGTC -3'
(R):5'- GAGCATTTTGTCATGGCCC -3'

Sequencing Primer
(F):5'- CATGAGTATGTCCTGCGACTCG -3'
(R):5'- TTGTCATGGCCCGGCGG -3'
Posted On 2016-12-20