Incidental Mutation 'R0333:Cux2'
ID 38329
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 038542-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.383) question?
Stock # R0333 (G1)
Quality Score 208
Status Validated
Chromosome 5
Chromosomal Location 121996025-122188522 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121998671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1423 (E1423G)
Ref Sequence ENSEMBL: ENSMUSP00000130302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086317] [ENSMUST00000111752] [ENSMUST00000168288]
AlphaFold P70298
Predicted Effect probably benign
Transcript: ENSMUST00000086317
AA Change: E1423G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000083497
Gene: ENSMUSG00000042589
AA Change: E1423G

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: E1423G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000107381
Gene: ENSMUSG00000042589
AA Change: E1423G

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: E1423G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000130302
Gene: ENSMUSG00000042589
AA Change: E1423G

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
Meta Mutation Damage Score 0.2298 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 100% (53/53)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alas1 T C 9: 106,118,480 (GRCm39) N214S probably benign Het
Antxr1 A G 6: 87,165,820 (GRCm39) probably benign Het
Atxn7l3 A T 11: 102,185,818 (GRCm39) probably null Het
Cab39l A G 14: 59,737,060 (GRCm39) E60G probably damaging Het
Cdc5l G T 17: 45,704,142 (GRCm39) probably benign Het
Dbndd1 G T 8: 124,233,512 (GRCm39) Q165K probably damaging Het
Drd1 C A 13: 54,208,082 (GRCm39) C37F probably damaging Het
Elp3 G A 14: 65,828,042 (GRCm39) P11L probably benign Het
F830045P16Rik A G 2: 129,314,777 (GRCm39) Y167H probably damaging Het
Gimap3 G A 6: 48,742,664 (GRCm39) Q89* probably null Het
H2ac25 C A 11: 58,845,685 (GRCm39) S41* probably null Het
Herc1 G A 9: 66,371,981 (GRCm39) probably null Het
Ipo11 A G 13: 107,007,271 (GRCm39) V603A probably benign Het
Kifap3 G A 1: 163,624,833 (GRCm39) A130T probably damaging Het
Klhl23 A G 2: 69,664,241 (GRCm39) Y530C probably damaging Het
Map4k1 C T 7: 28,699,186 (GRCm39) probably benign Het
Mroh2b T A 15: 4,960,600 (GRCm39) L778M probably damaging Het
Mtdh T C 15: 34,118,247 (GRCm39) S344P possibly damaging Het
Ncoa3 T G 2: 165,896,211 (GRCm39) N371K probably damaging Het
Ncor2 C A 5: 125,111,408 (GRCm39) probably benign Het
Nrn1l A G 8: 106,621,052 (GRCm39) E48G probably benign Het
Nudcd1 A G 15: 44,264,683 (GRCm39) I271T probably benign Het
Or1e17 A T 11: 73,831,593 (GRCm39) I174F possibly damaging Het
Or2t1 T C 14: 14,328,498 (GRCm38) L129P probably damaging Het
Pard3b A G 1: 62,269,371 (GRCm39) N653S probably benign Het
Plekhg1 A C 10: 3,914,419 (GRCm39) K1380N probably damaging Het
Ppara T A 15: 85,675,161 (GRCm39) I210N probably damaging Het
Ppp2r5b A G 19: 6,279,077 (GRCm39) probably benign Het
Prkn T C 17: 11,286,027 (GRCm39) F6L probably damaging Het
Prr14l A G 5: 32,985,337 (GRCm39) L1386P probably damaging Het
Ralgapa1 A G 12: 55,829,685 (GRCm39) probably benign Het
Reln A T 5: 22,134,240 (GRCm39) L2563I probably damaging Het
Rps7 A G 12: 28,681,200 (GRCm39) probably benign Het
Rslcan18 T C 13: 67,246,686 (GRCm39) K309E probably damaging Het
Sec14l5 C T 16: 4,984,930 (GRCm39) T92M probably damaging Het
Slc22a8 G A 19: 8,585,514 (GRCm39) probably benign Het
Smad2 G A 18: 76,395,692 (GRCm39) A44T probably damaging Het
Smcr8 T C 11: 60,671,048 (GRCm39) V732A possibly damaging Het
Spata2l A G 8: 123,960,371 (GRCm39) F306S probably damaging Het
Stab2 T C 10: 86,677,491 (GRCm39) D2552G probably benign Het
Tctn3 A T 19: 40,595,711 (GRCm39) L358H possibly damaging Het
Tk2 C T 8: 104,975,146 (GRCm39) probably benign Het
Tm6sf2 C T 8: 70,530,564 (GRCm39) R215C probably damaging Het
Tmbim6 T C 15: 99,304,555 (GRCm39) I204T probably damaging Het
Tubgcp2 C A 7: 139,579,260 (GRCm39) W675C probably damaging Het
Usp48 T A 4: 137,321,794 (GRCm39) I62N probably damaging Het
Vmn2r74 T C 7: 85,601,491 (GRCm39) T716A probably benign Het
Vps13b C A 15: 35,879,949 (GRCm39) T3008K probably damaging Het
Wnk1 G A 6: 119,905,124 (GRCm39) probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ACGACAGCAGTGACAGCATCTGAC -3'
(R):5'- GAGTTTCAAGTCCACCTCCGAATCC -3'

Sequencing Primer
(F):5'- GCAGTGACAGCATCTGACTTTATAAC -3'
(R):5'- GTCATCTCCTCGCCAGAC -3'
Posted On 2013-05-23