Incidental Mutation 'R7791:Cux2'
ID 599870
Institutional Source Beutler Lab
Gene Symbol Cux2
Ensembl Gene ENSMUSG00000042589
Gene Name cut-like homeobox 2
Synonyms 1700051K22Rik, ENSMUSG00000072641, Cutl2, Cux2, Cux-2
MMRRC Submission 045847-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.383) question?
Stock # R7791 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 121996025-122188522 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 122005162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 1008 (N1008S)
Ref Sequence ENSEMBL: ENSMUSP00000083497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086317] [ENSMUST00000111752] [ENSMUST00000168288]
AlphaFold P70298
Predicted Effect probably benign
Transcript: ENSMUST00000086317
AA Change: N1008S

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000083497
Gene: ENSMUSG00000042589
AA Change: N1008S

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 benign
Transcript: ENSMUST00000111752
AA Change: N1008S

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000107381
Gene: ENSMUSG00000042589
AA Change: N1008S

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 benign
Transcript: ENSMUST00000168288
AA Change: N1008S

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000130302
Gene: ENSMUSG00000042589
AA Change: N1008S

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
Meta Mutation Damage Score 0.1572 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (51/51)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A T 13: 59,838,508 (GRCm39) M108K probably benign Het
AAdacl4fm3 A G 4: 144,430,015 (GRCm39) S325P probably damaging Het
Adamts9 A T 6: 92,849,366 (GRCm39) V1031D probably benign Het
Agap3 C T 5: 24,681,411 (GRCm39) R122C probably damaging Het
Arhgap27 A G 11: 103,230,020 (GRCm39) probably null Het
Atp1a2 T A 1: 172,103,782 (GRCm39) I950F probably benign Het
Bahcc1 T G 11: 120,159,203 (GRCm39) H143Q probably damaging Het
Bcl7b T A 5: 135,199,968 (GRCm39) D40E probably damaging Het
C9 C T 15: 6,519,359 (GRCm39) R399C possibly damaging Het
Capn13 T C 17: 73,689,883 (GRCm39) I43V possibly damaging Het
Ctcf A G 8: 106,391,571 (GRCm39) T289A possibly damaging Het
Dst T A 1: 34,193,673 (GRCm39) M294K probably damaging Het
Eml4 G T 17: 83,781,135 (GRCm39) D778Y probably benign Het
Exoc3l4 A C 12: 111,389,974 (GRCm39) D183A probably damaging Het
Eya4 A T 10: 22,989,825 (GRCm39) S511T probably damaging Het
Fbrsl1 T C 5: 110,595,885 (GRCm39) H50R probably benign Het
Gemin5 G A 11: 58,015,819 (GRCm39) P1396S probably benign Het
Gnb4 A G 3: 32,644,192 (GRCm39) F151L possibly damaging Het
Gnptab A G 10: 88,276,084 (GRCm39) probably null Het
Gpbp1l1 T A 4: 116,431,617 (GRCm39) W92R probably damaging Het
Gucy1b1 A T 3: 81,942,704 (GRCm39) Y479* probably null Het
Htr3a T A 9: 48,812,875 (GRCm39) Q188L possibly damaging Het
Ighv5-9-1 A G 12: 113,700,165 (GRCm39) F18S probably damaging Het
Loxhd1 A G 18: 77,471,425 (GRCm39) T1004A probably damaging Het
Mansc4 G A 6: 146,983,042 (GRCm39) L132F unknown Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mtor G T 4: 148,547,397 (GRCm39) R460L probably benign Het
Mtus1 A T 8: 41,536,417 (GRCm39) F433Y possibly damaging Het
Myoc T C 1: 162,476,690 (GRCm39) Y465H probably damaging Het
N4bp1 A G 8: 87,579,831 (GRCm39) V657A probably damaging Het
Ndufv1 A T 19: 4,061,533 (GRCm39) probably null Het
Nectin1 T C 9: 43,703,336 (GRCm39) I198T probably benign Het
Or10h1 T A 17: 33,418,326 (GRCm39) C101* probably null Het
Or8g20 T C 9: 39,396,177 (GRCm39) D124G probably damaging Het
Padi2 C T 4: 140,644,907 (GRCm39) T47I probably benign Het
Pdia4 A T 6: 47,784,056 (GRCm39) I116N probably damaging Het
Pkdrej T A 15: 85,700,132 (GRCm39) I1935L possibly damaging Het
Pnpla7 C A 2: 24,942,078 (GRCm39) A1173D probably damaging Het
Ralgapa1 A T 12: 55,788,304 (GRCm39) L593Q probably damaging Het
Scn5a A G 9: 119,372,402 (GRCm39) S231P possibly damaging Het
Slc13a2 A G 11: 78,312,890 (GRCm39) probably null Het
Spdl1 A G 11: 34,704,304 (GRCm39) S510P possibly damaging Het
Tbxa2r G T 10: 81,170,540 (GRCm39) *342L probably null Het
Tfrc A G 16: 32,437,985 (GRCm39) K346R probably benign Het
Tmem52b A G 6: 129,489,966 (GRCm39) probably benign Het
Tsc1 T C 2: 28,571,960 (GRCm39) F844L probably damaging Het
Ttc39a A G 4: 109,283,544 (GRCm39) N158S probably benign Het
Ulk4 C T 9: 121,092,734 (GRCm39) E168K possibly damaging Het
Vgf T C 5: 137,060,885 (GRCm39) L349P unknown Het
Vil1 T C 1: 74,467,295 (GRCm39) Y681H probably damaging Het
Zfp654 A G 16: 64,603,634 (GRCm39) *572R 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
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
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
Predicted Primers PCR Primer
(F):5'- TCATTCGTCAGTAGGGGTTCC -3'
(R):5'- ACGGAGCCTGAAAAGACGTC -3'

Sequencing Primer
(F):5'- TTCCTGGTCAGAGCCGTG -3'
(R):5'- GCCTGAAAAGACGTCCCAGG -3'
Posted On 2019-11-26