Incidental Mutation 'R6768:Ncaph2'
ID 532061
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 044884-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # R6768 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 89239922-89257029 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 89248202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 166 (Y166*)
Ref Sequence ENSEMBL: ENSMUSP00000086095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036987] [ENSMUST00000074552] [ENSMUST00000088717] [ENSMUST00000145259]
AlphaFold Q8BSP2
Predicted Effect probably null
Transcript: ENSMUST00000036987
AA Change: Y135*
SMART Domains Protein: ENSMUSP00000036900
Gene: ENSMUSG00000008690
AA Change: Y135*

DomainStartEndE-ValueType
Pfam:DUF1032 20 576 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000074552
AA Change: Y166*
SMART Domains Protein: ENSMUSP00000074139
Gene: ENSMUSG00000008690
AA Change: Y166*

DomainStartEndE-ValueType
Pfam:DUF1032 51 607 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000088717
AA Change: Y166*
SMART Domains Protein: ENSMUSP00000086095
Gene: ENSMUSG00000008690
AA Change: Y166*

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 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 97.2%
Validation Efficiency 96% (45/47)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b G A 12: 113,453,863 (GRCm39) V227I probably benign Het
Agtrap A G 4: 148,166,067 (GRCm39) V106A probably benign Het
Aldh3a2 A C 11: 61,144,536 (GRCm39) S341A probably benign Het
Bmper T A 9: 23,292,749 (GRCm39) C353S probably damaging Het
Casq1 C T 1: 172,047,245 (GRCm39) D5N probably benign Het
Ccin G A 4: 43,984,574 (GRCm39) R327H probably benign Het
Chuk A G 19: 44,085,390 (GRCm39) V252A probably damaging Het
Colec11 T C 12: 28,645,100 (GRCm39) probably null Het
Cpeb3 G A 19: 37,002,432 (GRCm39) T643I possibly damaging Het
Cstpp1 A T 2: 91,252,303 (GRCm39) H19Q probably damaging Het
Ctcfl A G 2: 172,959,084 (GRCm39) V214A possibly damaging Het
Dst A G 1: 34,220,793 (GRCm39) E2199G probably damaging Het
Eno2 T C 6: 124,744,711 (GRCm39) E45G probably damaging Het
Foxa2 T C 2: 147,885,747 (GRCm39) H181R probably damaging Het
Fpgs A G 2: 32,576,635 (GRCm39) S331P probably benign Het
Gm47189 A G 14: 41,492,035 (GRCm39) S81P probably benign Het
Igsf8 C A 1: 172,145,099 (GRCm39) P142Q probably damaging Het
Islr G T 9: 58,064,893 (GRCm39) Q205K possibly damaging Het
Josd1 A G 15: 79,561,323 (GRCm39) W162R probably benign Het
Lrrc37a G A 11: 103,390,949 (GRCm39) T1492I probably benign Het
Meox1 A G 11: 101,770,161 (GRCm39) F189L probably damaging Het
Mtf1 G A 4: 124,731,578 (GRCm39) D385N probably benign Het
Naip2 A T 13: 100,314,832 (GRCm39) C315* probably null Het
Nr1i3 G A 1: 171,044,966 (GRCm39) V270M probably damaging Het
Or11h4b A G 14: 50,919,049 (GRCm39) L14S probably damaging Het
Or13c7 T C 4: 43,854,351 (GRCm39) I14T probably benign Het
Panx3 T C 9: 37,575,322 (GRCm39) K180R probably benign Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Reln A C 5: 22,183,905 (GRCm39) V1698G probably damaging Het
Rnf213 G T 11: 119,333,062 (GRCm39) R2757L probably damaging Het
Scgb2b26 G T 7: 33,644,379 (GRCm39) T4K probably damaging Het
Sdhb A G 4: 140,706,364 (GRCm39) E267G probably damaging Het
Sorbs1 A T 19: 40,315,991 (GRCm39) N383K probably damaging Het
Stk11ip T A 1: 75,509,279 (GRCm39) C766S probably benign Het
Taf6l A C 19: 8,751,913 (GRCm39) S592A probably damaging Het
Tmem145 G A 7: 25,008,061 (GRCm39) G235D probably damaging Het
Tuba3b T A 6: 145,564,455 (GRCm39) probably null Het
Ubl7 A T 9: 57,820,045 (GRCm39) E32D probably benign Het
Vmn1r168 A T 7: 23,240,460 (GRCm39) T106S probably damaging Het
Vmn2r59 C A 7: 41,661,392 (GRCm39) V808F probably benign Het
Vmn2r61 C T 7: 41,949,748 (GRCm39) P723S probably damaging Het
Wwc2 A G 8: 48,353,826 (GRCm39) Y103H possibly damaging Het
Zfp11 G T 5: 129,735,415 (GRCm39) D15E probably benign Het
Zfp428 G A 7: 24,214,908 (GRCm39) G162R probably damaging Het
Zfp629 G A 7: 127,209,997 (GRCm39) T604I probably benign Het
Zfpm1 C A 8: 123,061,195 (GRCm39) D253E probably damaging Het
Zhx1 G T 15: 57,917,499 (GRCm39) T249K 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
R6500:Ncaph2 UTSW 15 89,248,407 (GRCm39) missense probably benign 0.00
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'- GGCATCCAGTGTGAGTGTTC -3'
(R):5'- CTTGACATGGGGTATGGCTC -3'

Sequencing Primer
(F):5'- ATCCAGTGTGAGTGTTCTGGCC -3'
(R):5'- GGACACATTCCCACTGGATC -3'
Posted On 2018-08-29