Incidental Mutation 'R5995:Onecut2'
ID481096
Institutional Source Beutler Lab
Gene Symbol Onecut2
Ensembl Gene ENSMUSG00000045991
Gene Nameone cut domain, family member 2
SynonymsOc2, OC-2
MMRRC Submission 044174-MU
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.624) question?
Stock #R5995 (G1)
Quality Score157.009
Status Validated
Chromosome18
Chromosomal Location64340364-64398488 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 64341548 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 390 (R390L)
Ref Sequence ENSEMBL: ENSMUSP00000110798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115145] [ENSMUST00000175965]
Predicted Effect probably damaging
Transcript: ENSMUST00000115145
AA Change: R390L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110798
Gene: ENSMUSG00000045991
AA Change: R390L

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 probably benign
Transcript: ENSMUST00000175965
AA Change: R371L

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000135692
Gene: ENSMUSG00000045991
AA Change: R371L

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 0.364 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.7%
Validation Efficiency 100% (56/56)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 C T 5: 24,400,139 R108C possibly damaging Het
Adgrb2 C A 4: 130,017,103 A1104E probably damaging Het
Adgrv1 A G 13: 81,466,259 V4005A probably benign Het
Bend6 T C 1: 33,878,439 probably null Het
Brwd1 A T 16: 96,064,787 V265E probably damaging Het
Ccdc96 A G 5: 36,486,374 I575V probably damaging Het
Cd109 A T 9: 78,700,279 I1094L probably benign Het
Cd44 A G 2: 102,861,670 V91A probably damaging Het
Cdv3 C G 9: 103,364,003 G122R probably damaging Het
Ces2c T A 8: 104,850,901 V272D possibly damaging Het
Colgalt1 T A 8: 71,623,110 M467K probably damaging Het
Crtam G A 9: 40,994,540 T31M possibly damaging Het
Cyp7a1 C T 4: 6,272,371 V281M possibly damaging Het
Dnah7a A T 1: 53,620,670 N726K probably benign Het
Dok6 T C 18: 89,421,018 E232G possibly damaging Het
Gm12185 T C 11: 48,915,713 E217G probably benign Het
Gm7247 C T 14: 51,364,348 S26F probably benign Het
Gria1 A T 11: 57,289,285 Y618F probably damaging Het
H2-T22 A G 17: 36,041,485 Y183H probably benign Het
Hace1 A T 10: 45,670,391 I374L probably benign Het
Hif3a T A 7: 17,053,769 T132S probably benign Het
Hoxa3 T A 6: 52,170,283 probably benign Het
Il27 A C 7: 126,589,363 probably benign Het
Kdelc2 T C 9: 53,395,895 Y380H probably damaging Het
Klhdc1 T C 12: 69,250,774 Y40H probably damaging Het
Klhl33 T G 14: 50,892,651 E462A possibly damaging Het
Myh10 T C 11: 68,814,983 I1979T probably benign Het
Nfkbil1 G T 17: 35,220,798 F246L probably benign Het
Nlrp1b A T 11: 71,181,746 F424I probably damaging Het
Nod1 A G 6: 54,944,554 Y260H probably damaging Het
Ofcc1 A G 13: 40,280,422 L69P probably damaging Het
Olfr1110 T C 2: 87,135,856 N155S probably damaging Het
Olfr1419 A T 19: 11,870,862 I118N possibly damaging Het
Olfr1446 A C 19: 12,890,597 probably null Het
Olfr385 T C 11: 73,589,250 I163V probably benign Het
Olfr968 A G 9: 39,772,692 V36A probably benign Het
Olfr98 C A 17: 37,263,648 Q5H probably benign Het
Oprm1 A C 10: 6,832,520 M388L probably benign Het
Pcdhgc5 T A 18: 37,821,060 Y462* probably null Het
Pex1 T A 5: 3,607,704 M425K possibly damaging Het
Plec A T 15: 76,185,905 Y1001N probably damaging Het
Pou2f2 T G 7: 25,097,444 K236Q probably damaging Het
Rbm20 G A 19: 53,851,267 E896K possibly damaging Het
Sh3tc2 T A 18: 61,990,010 L614Q probably damaging Het
Skint5 T A 4: 113,893,832 I339F unknown Het
Slc2a7 T C 4: 150,168,340 I479T probably damaging Het
Snrk A G 9: 122,157,222 N219S probably damaging Het
Supt20 T C 3: 54,709,053 S245P probably damaging Het
Ttn A G 2: 76,761,292 I21011T probably damaging Het
Vmn2r11 T A 5: 109,047,055 I802F probably damaging Het
Vmn2r92 T C 17: 18,168,951 probably null Het
Ythdc2 T A 18: 44,886,253 M1363K probably damaging Het
Zan T C 5: 137,378,809 probably benign Het
Zfp521 C A 18: 13,717,624 C1261F probably damaging Het
Zfp980 A T 4: 145,701,909 K403* probably null Het
Other mutations in Onecut2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01350:Onecut2 APN 18 64341089 missense probably damaging 1.00
IGL01712:Onecut2 APN 18 64386602 missense probably damaging 0.97
IGL01925:Onecut2 APN 18 64341514 missense probably damaging 1.00
IGL03105:Onecut2 APN 18 64341508 nonsense probably null
R0197:Onecut2 UTSW 18 64341472 missense possibly damaging 0.91
R0504:Onecut2 UTSW 18 64340749 missense possibly damaging 0.72
R1514:Onecut2 UTSW 18 64341580 missense possibly damaging 0.93
R2314:Onecut2 UTSW 18 64341197 missense probably damaging 0.99
R3923:Onecut2 UTSW 18 64341520 missense probably damaging 0.98
R3924:Onecut2 UTSW 18 64341520 missense probably damaging 0.98
R3925:Onecut2 UTSW 18 64341520 missense probably damaging 0.98
R4888:Onecut2 UTSW 18 64340927 missense possibly damaging 0.86
R5818:Onecut2 UTSW 18 64340975 missense possibly damaging 0.76
R7132:Onecut2 UTSW 18 64340912 missense possibly damaging 0.79
R7232:Onecut2 UTSW 18 64341562 missense probably damaging 1.00
R7250:Onecut2 UTSW 18 64386440 missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- AGCTGGAAGAGATCAACACC -3'
(R):5'- ACTGGCAATGAAAACTCAGAGTC -3'

Sequencing Primer
(F):5'- CAAAGAGGTGGCCCAGC -3'
(R):5'- AACTCAGAGTCAAGGAGTGTG -3'
Posted On2017-06-26