Incidental Mutation 'IGL00917:Cux2'
ID 27411
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cux2
Ensembl Gene ENSMUSG00000042589
Gene Name cut-like homeobox 2
Synonyms 1700051K22Rik, ENSMUSG00000072641, Cutl2, Cux2, Cux-2
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.383) question?
Stock # IGL00917
Quality Score
Status
Chromosome 5
Chromosomal Location 121996025-122188522 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 122007168 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 831 (L831R)
Ref Sequence ENSEMBL: ENSMUSP00000130302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086317] [ENSMUST00000111752] [ENSMUST00000168288]
AlphaFold P70298
Predicted Effect probably null
Transcript: ENSMUST00000086317
AA Change: L831R

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000083497
Gene: ENSMUSG00000042589
AA Change: L831R

DomainStartEndE-ValueType
coiled coil region 133 214 N/A INTRINSIC
coiled coil region 235 311 N/A INTRINSIC
low complexity region 373 394 N/A INTRINSIC
low complexity region 397 408 N/A INTRINSIC
low complexity region 459 474 N/A INTRINSIC
CUT 484 569 7.62e-34 SMART
coiled coil region 626 655 N/A INTRINSIC
low complexity region 688 696 N/A INTRINSIC
low complexity region 740 757 N/A INTRINSIC
CUT 829 917 6.52e-42 SMART
low complexity region 965 976 N/A INTRINSIC
CUT 984 1070 1.12e-40 SMART
HOX 1113 1175 7.54e-13 SMART
low complexity region 1318 1332 N/A INTRINSIC
low complexity region 1351 1370 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000111752
AA Change: L831R

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000107381
Gene: ENSMUSG00000042589
AA Change: L831R

DomainStartEndE-ValueType
coiled coil region 133 214 N/A INTRINSIC
coiled coil region 235 311 N/A INTRINSIC
low complexity region 373 394 N/A INTRINSIC
low complexity region 397 408 N/A INTRINSIC
low complexity region 459 474 N/A INTRINSIC
CUT 484 569 7.62e-34 SMART
coiled coil region 626 655 N/A INTRINSIC
low complexity region 688 696 N/A INTRINSIC
low complexity region 740 757 N/A INTRINSIC
CUT 829 917 6.52e-42 SMART
low complexity region 965 976 N/A INTRINSIC
CUT 984 1070 1.12e-40 SMART
HOX 1113 1175 7.54e-13 SMART
low complexity region 1318 1332 N/A INTRINSIC
low complexity region 1351 1370 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156942
SMART Domains Protein: ENSMUSP00000114239
Gene: ENSMUSG00000042589

DomainStartEndE-ValueType
low complexity region 25 40 N/A INTRINSIC
CUT 50 135 7.62e-34 SMART
low complexity region 152 162 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000168288
AA Change: L831R

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000130302
Gene: ENSMUSG00000042589
AA Change: L831R

DomainStartEndE-ValueType
coiled coil region 133 214 N/A INTRINSIC
coiled coil region 235 311 N/A INTRINSIC
low complexity region 373 394 N/A INTRINSIC
low complexity region 397 408 N/A INTRINSIC
low complexity region 459 474 N/A INTRINSIC
CUT 484 569 7.62e-34 SMART
coiled coil region 626 655 N/A INTRINSIC
low complexity region 688 696 N/A INTRINSIC
low complexity region 740 757 N/A INTRINSIC
CUT 829 917 6.52e-42 SMART
low complexity region 965 976 N/A INTRINSIC
CUT 984 1070 1.12e-40 SMART
HOX 1113 1175 7.54e-13 SMART
low complexity region 1318 1332 N/A INTRINSIC
low complexity region 1351 1370 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197179
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene is a member of the Cut family of transcription factors that have multiple DNA binding domains and regulate cell proliferation and differentiation. This gene is primarily expressed in nervous tissues where it controls the proliferation of neuronal precursors, and may play a role in organogenesis earlier during embryonic development. Mice lacking the encoded protein exhibit smaller spinal cords with deficits in neural progenitor development as well as in neuroblast and interneuron differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit various neural defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A T 16: 20,241,107 (GRCm39) V26E probably benign Het
Adcy4 T A 14: 56,011,120 (GRCm39) probably null Het
Adgrl3 C T 5: 81,841,421 (GRCm39) T766I possibly damaging Het
Atad2b A T 12: 5,015,837 (GRCm39) probably benign Het
Atp8b4 A T 2: 126,216,453 (GRCm39) S664R probably benign Het
Cand1 A C 10: 119,046,841 (GRCm39) I883S possibly damaging Het
Cfap53 A G 18: 74,432,367 (GRCm39) D85G probably benign Het
Chd4 G A 6: 125,081,909 (GRCm39) R514Q possibly damaging Het
Cnst T C 1: 179,452,557 (GRCm39) probably benign Het
Col6a6 T C 9: 105,661,453 (GRCm39) probably benign Het
Elf2 T A 3: 51,215,467 (GRCm39) probably benign Het
Frey1 T A 2: 92,213,563 (GRCm39) S39T probably benign Het
Glp1r A G 17: 31,138,443 (GRCm39) probably benign Het
Hus1b A G 13: 31,131,527 (GRCm39) M44T probably benign Het
Mbd6 A G 10: 127,119,988 (GRCm39) probably benign Het
Med31 T A 11: 72,102,905 (GRCm39) probably null Het
Mmrn1 C T 6: 60,952,894 (GRCm39) Q392* probably null Het
Mrpl3 T G 9: 104,934,240 (GRCm39) V121G probably damaging Het
Or10am5 A G 7: 6,517,577 (GRCm39) S284P probably damaging Het
Or14c46 A T 7: 85,918,649 (GRCm39) M116K probably damaging Het
Palld A G 8: 61,968,969 (GRCm39) V879A possibly damaging Het
Pkn2 G T 3: 142,559,386 (GRCm39) D46E probably damaging Het
Prkdc T A 16: 15,557,428 (GRCm39) C2244S probably damaging Het
Prss50 T A 9: 110,691,474 (GRCm39) H259Q possibly damaging Het
Rab8b C T 9: 66,761,969 (GRCm39) W102* probably null Het
Rad54l2 A T 9: 106,587,638 (GRCm39) L709Q possibly damaging Het
Rapgef1 T C 2: 29,592,535 (GRCm39) V471A probably benign Het
Rbms3 A G 9: 116,939,183 (GRCm39) S27P probably damaging Het
Rpl35a A G 16: 32,879,101 (GRCm39) K73E possibly damaging Het
Sugct A T 13: 17,032,503 (GRCm39) Y416* probably null Het
Top2b A G 14: 16,407,354 (GRCm38) I713V probably benign Het
Unc79 A T 12: 103,054,766 (GRCm39) R777S possibly damaging Het
Vps37a T A 8: 40,993,779 (GRCm39) M258K probably benign Het
Zfp944 G A 17: 22,558,765 (GRCm39) L161F probably benign Het
Other mutations in Cux2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Cux2 APN 5 122,006,601 (GRCm39) missense possibly damaging 0.92
IGL00979:Cux2 APN 5 122,011,777 (GRCm39) missense probably damaging 0.98
IGL01069:Cux2 APN 5 122,005,414 (GRCm39) missense possibly damaging 0.84
IGL01303:Cux2 APN 5 122,003,991 (GRCm39) missense probably benign 0.03
IGL01583:Cux2 APN 5 122,012,170 (GRCm39) missense probably damaging 0.98
IGL01762:Cux2 APN 5 122,011,208 (GRCm39) missense probably damaging 1.00
IGL02508:Cux2 APN 5 121,998,885 (GRCm39) missense possibly damaging 0.93
R0333:Cux2 UTSW 5 121,998,671 (GRCm39) missense probably benign 0.04
R0352:Cux2 UTSW 5 122,022,802 (GRCm39) splice site probably benign
R0443:Cux2 UTSW 5 122,025,500 (GRCm39) missense possibly damaging 0.66
R1853:Cux2 UTSW 5 122,007,184 (GRCm39) missense possibly damaging 0.95
R2011:Cux2 UTSW 5 121,999,389 (GRCm39) missense probably benign 0.21
R2057:Cux2 UTSW 5 122,007,567 (GRCm39) missense probably benign 0.02
R2165:Cux2 UTSW 5 122,025,540 (GRCm39) missense possibly damaging 0.78
R3964:Cux2 UTSW 5 122,025,539 (GRCm39) nonsense probably null
R4182:Cux2 UTSW 5 122,006,555 (GRCm39) missense probably damaging 1.00
R4579:Cux2 UTSW 5 121,998,716 (GRCm39) missense probably benign 0.01
R4655:Cux2 UTSW 5 122,023,997 (GRCm39) missense possibly damaging 0.95
R4673:Cux2 UTSW 5 122,025,539 (GRCm39) nonsense probably null
R4697:Cux2 UTSW 5 122,011,816 (GRCm39) missense probably damaging 1.00
R4927:Cux2 UTSW 5 122,015,152 (GRCm39) missense probably benign 0.13
R5348:Cux2 UTSW 5 122,004,041 (GRCm39) missense probably damaging 0.99
R6208:Cux2 UTSW 5 121,998,885 (GRCm39) missense possibly damaging 0.93
R6500:Cux2 UTSW 5 122,002,789 (GRCm39) missense probably benign 0.03
R6661:Cux2 UTSW 5 122,007,360 (GRCm39) missense probably benign 0.04
R6986:Cux2 UTSW 5 122,006,642 (GRCm39) missense possibly damaging 0.84
R7296:Cux2 UTSW 5 121,999,319 (GRCm39) missense probably benign 0.25
R7561:Cux2 UTSW 5 122,017,931 (GRCm39) missense probably benign 0.31
R7702:Cux2 UTSW 5 122,006,648 (GRCm39) missense possibly damaging 0.70
R7705:Cux2 UTSW 5 122,007,736 (GRCm39) missense probably benign 0.13
R7791:Cux2 UTSW 5 122,005,162 (GRCm39) missense probably benign 0.10
R7998:Cux2 UTSW 5 122,006,648 (GRCm39) missense possibly damaging 0.70
R8081:Cux2 UTSW 5 122,007,519 (GRCm39) missense probably benign 0.13
R8096:Cux2 UTSW 5 122,007,160 (GRCm39) missense possibly damaging 0.70
R8191:Cux2 UTSW 5 122,012,217 (GRCm39) missense probably benign 0.31
R8794:Cux2 UTSW 5 122,007,306 (GRCm39) missense probably benign 0.31
R8957:Cux2 UTSW 5 121,999,011 (GRCm39) missense probably benign 0.36
R9601:Cux2 UTSW 5 122,025,461 (GRCm39) missense possibly damaging 0.85
R9749:Cux2 UTSW 5 122,007,780 (GRCm39) missense possibly damaging 0.95
R9765:Cux2 UTSW 5 122,007,195 (GRCm39) missense probably benign 0.00
X0027:Cux2 UTSW 5 122,022,814 (GRCm39) missense probably benign 0.13
Z1176:Cux2 UTSW 5 122,023,997 (GRCm39) missense probably benign 0.02
Z1176:Cux2 UTSW 5 122,011,876 (GRCm39) nonsense probably null
Z1177:Cux2 UTSW 5 122,015,192 (GRCm39) missense probably benign 0.13
Z1177:Cux2 UTSW 5 122,011,743 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17