Incidental Mutation 'R6500:Ncaph2'
ID 519696
Institutional Source Beutler Lab
Gene Symbol Ncaph2
Ensembl Gene ENSMUSG00000008690
Gene Name non-SMC condensin II complex, subunit H2
Synonyms 0610010J20Rik, 2610524G04Rik, D15Ertd785e, Kleisin beta
MMRRC Submission 044632-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # R6500 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 89239922-89257029 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89248407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 206 (V206E)
Ref Sequence ENSEMBL: ENSMUSP00000086095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036987] [ENSMUST00000074552] [ENSMUST00000088717] [ENSMUST00000145259]
AlphaFold Q8BSP2
Predicted Effect unknown
Transcript: ENSMUST00000036987
AA Change: V175E
SMART Domains Protein: ENSMUSP00000036900
Gene: ENSMUSG00000008690
AA Change: V175E

DomainStartEndE-ValueType
Pfam:DUF1032 20 576 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074552
AA Change: V206E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000074139
Gene: ENSMUSG00000008690
AA Change: V206E

DomainStartEndE-ValueType
Pfam:DUF1032 51 607 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000088717
AA Change: V206E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000086095
Gene: ENSMUSG00000008690
AA Change: V206E

DomainStartEndE-ValueType
Pfam:CNDH2_N 11 123 1.2e-48 PFAM
Pfam:CNDH2_M 147 285 2.1e-20 PFAM
Pfam:CNDH2_C 308 598 1.9e-90 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123889
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141643
Predicted Effect probably benign
Transcript: ENSMUST00000145259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145793
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 98% (53/54)
MGI Phenotype FUNCTION: This gene encodes a component of the condensin-2 complex. The encoded protein may regulate the structure of mitotic chromosomes. Loss of function of this gene disrupts T-cell development. There are two pseudogenes for this gene on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for an ENU-induced single point mutation display a specific defect in T cell development but are otherwise viable, fertile and overtly healthy with no apparent defects in B cell development. Homozygous null mice die before E12.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 A G 12: 81,606,380 (GRCm39) F461L probably benign Het
Adamtsl3 C A 7: 82,227,818 (GRCm39) H1334Q probably benign Het
Adgrf1 A G 17: 43,621,263 (GRCm39) N500S probably damaging Het
Afdn A G 17: 14,042,634 (GRCm39) D335G possibly damaging Het
Arhgap19 G A 19: 41,775,077 (GRCm39) T178M probably damaging Het
Chac2 T C 11: 30,927,625 (GRCm39) D86G probably damaging Het
Clhc1 T C 11: 29,510,542 (GRCm39) S209P possibly damaging Het
Col1a2 G A 6: 4,515,517 (GRCm39) G127S unknown Het
Coro2b A G 9: 62,396,606 (GRCm39) F51L probably benign Het
Cux2 A G 5: 122,002,789 (GRCm39) S1139P probably benign Het
Cyth3 A T 5: 143,693,595 (GRCm39) I379F probably damaging Het
Dock2 A T 11: 34,312,822 (GRCm39) L240H possibly damaging Het
Ercc6 A G 14: 32,248,780 (GRCm39) K444E probably damaging Het
Fam3b A G 16: 97,302,101 (GRCm39) L52P possibly damaging Het
Fat4 T G 3: 39,035,418 (GRCm39) Y3023* probably null Het
Gad1 A T 2: 70,423,780 (GRCm39) N396Y probably damaging Het
Gbp2b A G 3: 142,317,252 (GRCm39) E536G probably benign Het
Gm11564 G A 11: 99,706,061 (GRCm39) T123I unknown Het
Herc2 G T 7: 55,796,393 (GRCm39) E1922* probably null Het
Hrh4 G T 18: 13,155,525 (GRCm39) V355F probably damaging Het
Isyna1 A G 8: 71,047,339 (GRCm39) I21V probably damaging Het
Jak1 T C 4: 101,039,130 (GRCm39) D165G probably benign Het
Klhl38 C A 15: 58,185,809 (GRCm39) G307* probably null Het
Krt77 T C 15: 101,772,772 (GRCm39) N269S probably damaging Het
Lrp4 T A 2: 91,322,765 (GRCm39) I1118N possibly damaging Het
Ly6i T C 15: 74,853,833 (GRCm39) Y30C probably damaging Het
Magi2 A G 5: 20,807,345 (GRCm39) E620G possibly damaging Het
Mbl2 A G 19: 30,216,839 (GRCm39) D217G possibly damaging Het
Mogat2 T A 7: 98,871,553 (GRCm39) I253F probably benign Het
Mpped2 T C 2: 106,691,925 (GRCm39) L210P probably damaging Het
Nav3 C A 10: 109,600,617 (GRCm39) A1337S probably damaging Het
Nlgn1 T C 3: 25,488,094 (GRCm39) E747G possibly damaging Het
Nlrc3 C T 16: 3,770,308 (GRCm39) G237D possibly damaging Het
Nsun7 A G 5: 66,452,827 (GRCm39) D514G probably benign Het
Or10al5 C G 17: 38,063,577 (GRCm39) D277E probably damaging Het
Pals2 A G 6: 50,175,146 (GRCm39) K500E possibly damaging Het
Pcnx2 C A 8: 126,480,224 (GRCm39) V2028F probably damaging Het
Pdx1 G T 5: 147,207,440 (GRCm39) W131L probably damaging Het
Pkdrej C T 15: 85,703,747 (GRCm39) V730I probably damaging Het
Plcg1 T A 2: 160,596,487 (GRCm39) Y669N probably damaging Het
Plpp1 G T 13: 113,003,454 (GRCm39) W226L probably damaging Het
Sfxn1 G A 13: 54,242,918 (GRCm39) V59I probably benign Het
Shank1 T C 7: 43,976,645 (GRCm39) I581T unknown Het
Slc35f6 A C 5: 30,814,164 (GRCm39) K150N possibly damaging Het
Slc5a7 A T 17: 54,591,231 (GRCm39) S234T probably benign Het
Smg6 C T 11: 74,821,331 (GRCm39) T534I possibly damaging Het
Ush2a C T 1: 188,573,724 (GRCm39) T3649I probably benign Het
Vmn1r158 T C 7: 22,490,078 (GRCm39) T44A possibly damaging Het
Vmn1r217 A T 13: 23,298,073 (GRCm39) Y276* probably null Het
Vmn2r100 T A 17: 19,742,355 (GRCm39) I243N probably damaging Het
Vwde T C 6: 13,208,404 (GRCm39) probably null Het
Washc4 C A 10: 83,394,687 (GRCm39) P306T probably damaging Het
Wdhd1 C T 14: 47,488,217 (GRCm39) probably null Het
Xpo6 T C 7: 125,770,262 (GRCm39) probably benign Het
Other mutations in Ncaph2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00784:Ncaph2 APN 15 89,254,243 (GRCm39) missense probably damaging 1.00
IGL01640:Ncaph2 APN 15 89,248,041 (GRCm39) splice site probably null
IGL02550:Ncaph2 APN 15 89,254,064 (GRCm39) nonsense probably null
IGL02884:Ncaph2 APN 15 89,248,447 (GRCm39) critical splice donor site probably null
IGL03369:Ncaph2 APN 15 89,247,858 (GRCm39) missense probably benign 0.43
R0051:Ncaph2 UTSW 15 89,253,867 (GRCm39) missense probably damaging 0.98
R0051:Ncaph2 UTSW 15 89,253,867 (GRCm39) missense probably damaging 0.98
R0384:Ncaph2 UTSW 15 89,253,594 (GRCm39) missense probably benign 0.00
R1677:Ncaph2 UTSW 15 89,255,427 (GRCm39) missense probably damaging 1.00
R1680:Ncaph2 UTSW 15 89,248,825 (GRCm39) missense probably benign
R2570:Ncaph2 UTSW 15 89,254,678 (GRCm39) missense probably benign 0.03
R4647:Ncaph2 UTSW 15 89,254,635 (GRCm39) missense probably damaging 1.00
R4731:Ncaph2 UTSW 15 89,240,030 (GRCm39) unclassified probably benign
R4795:Ncaph2 UTSW 15 89,255,010 (GRCm39) missense probably damaging 1.00
R4796:Ncaph2 UTSW 15 89,255,010 (GRCm39) missense probably damaging 1.00
R4917:Ncaph2 UTSW 15 89,244,574 (GRCm39) missense probably damaging 1.00
R5089:Ncaph2 UTSW 15 89,240,148 (GRCm39) critical splice donor site probably null
R6143:Ncaph2 UTSW 15 89,248,206 (GRCm39) critical splice donor site probably null
R6768:Ncaph2 UTSW 15 89,248,202 (GRCm39) nonsense probably null
R6827:Ncaph2 UTSW 15 89,255,530 (GRCm39) missense probably damaging 1.00
R7033:Ncaph2 UTSW 15 89,255,559 (GRCm39) missense probably benign 0.00
R7272:Ncaph2 UTSW 15 89,248,385 (GRCm39) missense probably benign
R7386:Ncaph2 UTSW 15 89,254,459 (GRCm39) nonsense probably null
R8867:Ncaph2 UTSW 15 89,254,605 (GRCm39) missense probably benign 0.02
R8900:Ncaph2 UTSW 15 89,253,594 (GRCm39) missense probably benign 0.00
R9719:Ncaph2 UTSW 15 89,249,526 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACAACACTGAGCTAGCATGGG -3'
(R):5'- AGGGAGAGAAGCTCTGTCTAAC -3'

Sequencing Primer
(F):5'- CTGAGCTAGCATGGGGGAGAAG -3'
(R):5'- GGAGAGAAGCTCTGTCTAACCTATTC -3'
Posted On 2018-06-06