Incidental Mutation 'R7272:Ncaph2'
ID 565376
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 045391-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # R7272 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 89239922-89257029 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89248385 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 199 (M199V)
Ref Sequence ENSEMBL: ENSMUSP00000086095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036987] [ENSMUST00000074552] [ENSMUST00000088717] [ENSMUST00000145259]
AlphaFold Q8BSP2
Predicted Effect probably benign
Transcript: ENSMUST00000036987
AA Change: M168V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000036900
Gene: ENSMUSG00000008690
AA Change: M168V

DomainStartEndE-ValueType
Pfam:DUF1032 20 576 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074552
AA Change: M199V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000074139
Gene: ENSMUSG00000008690
AA Change: M199V

DomainStartEndE-ValueType
Pfam:DUF1032 51 607 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000088717
AA Change: M199V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000086095
Gene: ENSMUSG00000008690
AA Change: M199V

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 probably benign
Transcript: ENSMUST00000145259
Meta Mutation Damage Score 0.0625 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (55/55)
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
2210408I21Rik T C 13: 77,471,655 (GRCm39) I1020T probably benign Het
2310057N15Rik A T 16: 88,570,523 (GRCm39) Y172* probably null Het
4930558K02Rik T A 1: 161,770,092 (GRCm39) Y139F possibly damaging Het
A830018L16Rik T G 1: 11,658,695 (GRCm39) M202R probably damaging Het
Abca12 T C 1: 71,287,591 (GRCm39) E2450G probably damaging Het
Ank2 C T 3: 126,736,782 (GRCm39) R3034H unknown Het
Anxa9 A G 3: 95,213,184 (GRCm39) I54T probably damaging Het
Ash1l A G 3: 88,961,941 (GRCm39) probably null Het
Aspm T C 1: 139,386,066 (GRCm39) I570T probably benign Het
Bcar3 A T 3: 122,302,045 (GRCm39) I247F possibly damaging Het
Cep350 A G 1: 155,829,334 (GRCm39) V130A probably damaging Het
Cep89 A T 7: 35,137,888 (GRCm39) R757S probably benign Het
Cryga A T 1: 65,142,381 (GRCm39) I4N probably damaging Het
Cyp2d26 T A 15: 82,676,764 (GRCm39) Y194F probably benign Het
Edn2 G A 4: 120,019,143 (GRCm39) R44H probably damaging Het
Ep400 G A 5: 110,903,511 (GRCm39) Q363* probably null Het
Gpr33 T C 12: 52,070,848 (GRCm39) T64A probably damaging Het
Ice2 T A 9: 69,324,365 (GRCm39) S763T possibly damaging Het
Itgad C A 7: 127,804,245 (GRCm39) F1169L probably damaging Het
Kcnv1 A G 15: 44,976,576 (GRCm39) L237P probably benign Het
Kctd18 T C 1: 57,995,710 (GRCm39) E356G probably damaging Het
Krt33a C T 11: 99,902,837 (GRCm39) R329Q probably damaging Het
Lama2 C A 10: 27,000,552 (GRCm39) G1657C probably damaging Het
Marchf3 T G 18: 56,895,593 (GRCm39) R217S probably benign Het
Mmel1 A T 4: 154,978,547 (GRCm39) T660S probably damaging Het
Ms4a7 T A 19: 11,310,642 (GRCm39) K59* probably null Het
Mss51 G A 14: 20,534,981 (GRCm39) T263I probably damaging Het
Ndufa4 G A 6: 11,905,209 (GRCm39) Q62* probably null Het
Nectin4 A G 1: 171,214,212 (GRCm39) T456A probably damaging Het
Nek1 T C 8: 61,578,120 (GRCm39) M1214T probably benign Het
Nsf T A 11: 103,718,064 (GRCm39) L710F probably damaging Het
Nynrin G T 14: 56,107,872 (GRCm39) G993V probably damaging Het
Or1e31 T A 11: 73,689,695 (GRCm39) D296V probably damaging Het
Pbk T A 14: 66,052,621 (GRCm39) Y155N probably damaging Het
Plec T C 15: 76,059,153 (GRCm39) I3595V possibly damaging Het
Pom121 G A 5: 135,409,941 (GRCm39) T1072I unknown Het
Sdc1 T A 12: 8,840,554 (GRCm39) H106Q probably benign Het
Slc44a3 T C 3: 121,254,764 (GRCm39) D618G probably damaging Het
Slc9c1 A G 16: 45,401,878 (GRCm39) D755G possibly damaging Het
Slfn9 T C 11: 82,872,387 (GRCm39) Y783C probably benign Het
Sorl1 C T 9: 41,975,006 (GRCm39) probably null Het
Spindoc C T 19: 7,360,085 (GRCm39) E28K possibly damaging Het
Sptbn1 T C 11: 30,064,859 (GRCm39) D1880G possibly damaging Het
Sspn T A 6: 145,907,200 (GRCm39) D210E probably benign Het
Stx12 A T 4: 132,584,687 (GRCm39) I219K possibly damaging Het
Syne2 T C 12: 76,095,417 (GRCm39) V508A probably benign Het
Tkt G T 14: 30,287,564 (GRCm39) R186L probably damaging Het
Trmt10a T A 3: 137,860,527 (GRCm39) M241K probably damaging Het
Vgll2 C A 10: 51,903,758 (GRCm39) A207E possibly damaging Het
Vmn1r114 A G 7: 20,545,543 (GRCm39) F190S probably damaging Het
Xpot C T 10: 121,453,094 (GRCm39) probably null Het
Yrdc G A 4: 124,744,820 (GRCm39) A85T probably benign Het
Zfp385c C T 11: 100,520,865 (GRCm39) R265K possibly damaging Het
Zgrf1 A T 3: 127,392,409 (GRCm39) I1310F probably damaging 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
R6500:Ncaph2 UTSW 15 89,248,407 (GRCm39) missense probably benign 0.00
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
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'- AGGTACAACACTGAGCTAGCATG -3'
(R):5'- TGAGGGAGAGAAGCTCTGTC -3'

Sequencing Primer
(F):5'- CACTGAGCTAGCATGGGGGAG -3'
(R):5'- GGAGAGAAGCTCTGTCTAACCTATTC -3'
Posted On 2019-06-26