Incidental Mutation 'IGL01069:Cux2'
ID 51040
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 # IGL01069
Quality Score
Status
Chromosome 5
Chromosomal Location 121996025-122188522 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 122005414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 924 (T924M)
Ref Sequence ENSEMBL: ENSMUSP00000130302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086317] [ENSMUST00000111752] [ENSMUST00000168288]
AlphaFold P70298
Predicted Effect possibly damaging
Transcript: ENSMUST00000086317
AA Change: T924M

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000083497
Gene: ENSMUSG00000042589
AA Change: T924M

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 possibly damaging
Transcript: ENSMUST00000111752
AA Change: T924M

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107381
Gene: ENSMUSG00000042589
AA Change: T924M

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 possibly damaging
Transcript: ENSMUST00000168288
AA Change: T924M

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130302
Gene: ENSMUSG00000042589
AA Change: T924M

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
1700123K08Rik C T 5: 138,560,751 (GRCm39) A215T probably benign Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Apc2 G A 10: 80,147,820 (GRCm39) C929Y probably damaging Het
Arap2 T C 5: 62,807,199 (GRCm39) H1156R probably benign Het
Arhgap9 A G 10: 127,164,821 (GRCm39) T582A probably damaging Het
Ccdc57 T A 11: 120,752,085 (GRCm39) H832L probably benign Het
Ces3b T C 8: 105,818,206 (GRCm39) S92P probably benign Het
Ces5a A G 8: 94,252,172 (GRCm39) probably null Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cpb2 T A 14: 75,508,215 (GRCm39) D225E probably damaging Het
Cpne8 C T 15: 90,499,313 (GRCm39) probably null Het
Dtl T A 1: 191,293,651 (GRCm39) probably null Het
Dysf T A 6: 84,176,767 (GRCm39) I1912N possibly damaging Het
Edc4 T A 8: 106,613,766 (GRCm39) F369I probably benign Het
Fibcd1 T C 2: 31,711,531 (GRCm39) E298G probably benign Het
Focad C A 4: 88,244,383 (GRCm39) H788N unknown Het
Frem1 C T 4: 82,932,104 (GRCm39) R199H probably benign Het
Gadl1 T C 9: 115,783,907 (GRCm39) probably null Het
Hipk1 G A 3: 103,685,015 (GRCm39) T200I possibly damaging Het
Ighv14-2 C T 12: 113,958,379 (GRCm39) V21I possibly damaging Het
Kank4 A T 4: 98,666,632 (GRCm39) I605N probably damaging Het
Krt88 T G 15: 101,351,508 (GRCm39) *172G probably null Het
Lmf2 C A 15: 89,237,091 (GRCm39) A408S probably benign Het
Lsm12 T C 11: 102,054,896 (GRCm39) probably benign Het
Myo3b A G 2: 70,075,735 (GRCm39) I580V probably benign Het
Myt1 T C 2: 181,467,749 (GRCm39) M1061T probably damaging Het
Nup133 G A 8: 124,657,721 (GRCm39) R405* probably null Het
Or1ad1 A T 11: 50,875,830 (GRCm39) I101F possibly damaging Het
Or5m3 A G 2: 85,838,891 (GRCm39) Y257C probably damaging Het
Or8g2 A T 9: 39,821,902 (GRCm39) M268L possibly damaging Het
Pcnx1 A G 12: 81,964,918 (GRCm39) R362G probably benign Het
Pomt2 G T 12: 87,157,078 (GRCm39) T747K probably damaging Het
Rgma G A 7: 73,067,239 (GRCm39) A165T probably damaging Het
Rhbdf2 T C 11: 116,492,577 (GRCm39) D437G possibly damaging Het
Rpl5 T C 5: 108,055,145 (GRCm39) probably null Het
Rtkn2 A G 10: 67,877,494 (GRCm39) D518G probably benign Het
Sclt1 T C 3: 41,696,426 (GRCm39) probably benign Het
Sidt2 C T 9: 45,854,375 (GRCm39) V616I possibly damaging Het
Ska2 A G 11: 87,000,091 (GRCm39) probably benign Het
Slc13a4 C A 6: 35,245,817 (GRCm39) L609F probably damaging Het
Sorbs3 T C 14: 70,428,604 (GRCm39) E390G probably damaging Het
Syt15 T C 14: 33,946,881 (GRCm39) V220A possibly damaging Het
Tob1 T C 11: 94,104,881 (GRCm39) F139S probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Other mutations in Cux2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Cux2 APN 5 122,006,601 (GRCm39) missense possibly damaging 0.92
IGL00917:Cux2 APN 5 122,007,168 (GRCm39) missense probably null 0.05
IGL00979:Cux2 APN 5 122,011,777 (GRCm39) missense probably damaging 0.98
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 2013-06-21