Incidental Mutation 'R6208:Cux2'
ID 503257
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 044342-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.383) question?
Stock # R6208 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 121996025-122188522 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 121998885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1352 (P1352S)
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: P1352S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000083497
Gene: ENSMUSG00000042589
AA Change: P1352S

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: P1352S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107381
Gene: ENSMUSG00000042589
AA Change: P1352S

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: P1352S

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130302
Gene: ENSMUSG00000042589
AA Change: P1352S

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 0.0931 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (57/58)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a A T 3: 32,766,043 (GRCm39) I18F probably benign Het
Apol11a C T 15: 77,401,241 (GRCm39) R243C probably damaging Het
Asap3 A G 4: 135,968,508 (GRCm39) M687V probably benign Het
Axdnd1 C T 1: 156,220,426 (GRCm39) probably benign Het
Baz2b A G 2: 59,755,150 (GRCm39) F1026S probably damaging Het
Bsg T C 10: 79,544,672 (GRCm39) L70P probably damaging Het
Col10a1 A G 10: 34,270,582 (GRCm39) N185D possibly damaging Het
Col6a2 T A 10: 76,450,891 (GRCm39) N50I possibly damaging Het
Defa25 A G 8: 21,575,197 (GRCm39) probably null Het
Emc1 G T 4: 139,081,582 (GRCm39) R70L probably damaging Het
Fat1 T C 8: 45,480,650 (GRCm39) F3028S probably damaging Het
Fhit T C 14: 9,573,435 (GRCm38) E205G probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gm20830 T G Y: 6,916,792 (GRCm39) E109A probably benign Homo
Grm1 A T 10: 10,595,690 (GRCm39) F646Y probably damaging Het
Hp1bp3 A G 4: 137,944,481 (GRCm39) probably benign Het
Lce1d G A 3: 92,593,312 (GRCm39) P34S unknown Het
Lpar1 G A 4: 58,504,630 (GRCm39) Q13* probably null Het
Lrrc61 C T 6: 48,545,839 (GRCm39) R221* probably null Het
Map2 A G 1: 66,470,749 (GRCm39) N328D probably damaging Het
Mndal T A 1: 173,684,988 (GRCm39) D527V possibly damaging Het
Mycbp2 T G 14: 103,532,664 (GRCm39) N430T probably benign Het
Myo1e A G 9: 70,283,887 (GRCm39) Y861C probably damaging Het
Nav2 A G 7: 49,213,851 (GRCm39) T1622A probably damaging Het
Nom1 A T 5: 29,654,617 (GRCm39) H773L possibly damaging Het
Npc2 G T 12: 84,803,919 (GRCm39) P144Q probably damaging Het
Npnt A G 3: 132,655,774 (GRCm39) probably benign Het
Nxpe4 A T 9: 48,304,678 (GRCm39) Y255F probably benign Het
Obscn G A 11: 58,958,474 (GRCm39) A3769V possibly damaging Het
Optc T C 1: 133,832,737 (GRCm39) D121G probably damaging Het
Pard6a T C 8: 106,428,866 (GRCm39) F26L probably damaging Het
Pcdhga4 T A 18: 37,819,762 (GRCm39) I437N probably damaging Het
Phf12 G T 11: 77,914,417 (GRCm39) V71F probably damaging Het
Phf21b T A 15: 84,679,317 (GRCm39) S282C probably damaging Het
Pou5f1 T C 17: 35,821,357 (GRCm39) F323S possibly damaging Het
Psmd5 A T 2: 34,757,023 (GRCm39) I67N probably damaging Het
Pyroxd1 A G 6: 142,303,182 (GRCm39) K273R probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpusd1 A T 17: 25,949,352 (GRCm39) H174L probably damaging Het
Ryr2 T C 13: 11,910,106 (GRCm39) K94R probably benign Het
Scn2b A G 9: 45,029,328 (GRCm39) R3G probably benign Het
Sf3b2 A T 19: 5,325,126 (GRCm39) M782K possibly damaging Het
Skint7 A G 4: 111,842,073 (GRCm39) probably null Het
Slc43a1 A G 2: 84,687,184 (GRCm39) I319V possibly damaging Het
Snupn T A 9: 56,890,247 (GRCm39) M356K probably damaging Het
Spata31d1a C A 13: 59,848,378 (GRCm39) R1250M probably damaging Het
Sprr2h T C 3: 92,294,216 (GRCm39) V21A unknown Het
Srpra A G 9: 35,127,291 (GRCm39) T614A possibly damaging Het
Stk36 A T 1: 74,650,591 (GRCm39) Q327L probably benign Het
Syne3 A G 12: 104,909,622 (GRCm39) I738T probably benign Het
Tcea3 A T 4: 135,975,360 (GRCm39) M1L probably damaging Het
Tead2 G T 7: 44,867,526 (GRCm39) R85L probably damaging Het
Thap7 T C 16: 17,346,300 (GRCm39) N228D possibly damaging Het
Trip11 T A 12: 101,865,154 (GRCm39) E173V probably damaging Het
Ttc38 T A 15: 85,725,698 (GRCm39) M187K possibly damaging Het
Vmn1r193 T A 13: 22,403,138 (GRCm39) T285S possibly damaging Het
Vmn2r106 T C 17: 20,488,591 (GRCm39) T603A probably damaging Het
Vps39 A T 2: 120,163,897 (GRCm39) M355K probably damaging Het
Wnt5b G T 6: 119,423,473 (GRCm39) L51I probably damaging Het
Xxylt1 A G 16: 30,826,626 (GRCm39) Y230H 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
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
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'- CTCTCCAGCCGGTAGATTATACTG -3'
(R):5'- ACAGTGACCTCTCAGAGCTG -3'

Sequencing Primer
(F):5'- CCAGCCGGTAGATTATACTGTTCAAG -3'
(R):5'- AGGGCCCTTTCTTTCAGGCAC -3'
Posted On 2018-02-27