Incidental Mutation 'R8900:Ncaph2'
ID 679932
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 068757-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # R8900 (G1)
Quality Score 223.009
Status Validated
Chromosome 15
Chromosomal Location 89239922-89257029 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89253594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 282 (I282N)
Ref Sequence ENSEMBL: ENSMUSP00000086095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023285] [ENSMUST00000036987] [ENSMUST00000074552] [ENSMUST00000088717] [ENSMUST00000228977] [ENSMUST00000145259] [ENSMUST00000167643]
AlphaFold Q8BSP2
Predicted Effect probably benign
Transcript: ENSMUST00000023285
SMART Domains Protein: ENSMUSP00000023285
Gene: ENSMUSG00000022615

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
Pfam:Glycos_trans_3N 23 85 1.5e-20 PFAM
Pfam:Glycos_transf_3 95 326 3.1e-50 PFAM
PYNP_C 374 448 6.46e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000036987
AA Change: I251N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036900
Gene: ENSMUSG00000008690
AA Change: I251N

DomainStartEndE-ValueType
Pfam:DUF1032 20 576 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074552
AA Change: I282N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000074139
Gene: ENSMUSG00000008690
AA Change: I282N

DomainStartEndE-ValueType
Pfam:DUF1032 51 607 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000088717
AA Change: I282N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000086095
Gene: ENSMUSG00000008690
AA Change: I282N

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: ENSMUST00000134900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147207
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151523
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147733
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145793
Predicted Effect probably benign
Transcript: ENSMUST00000228977
Predicted Effect probably benign
Transcript: ENSMUST00000145259
Predicted Effect probably benign
Transcript: ENSMUST00000167643
SMART Domains Protein: ENSMUSP00000131943
Gene: ENSMUSG00000091780

DomainStartEndE-ValueType
Pfam:SCO1-SenC 52 234 1.4e-47 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (63/63)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 T C 11: 110,045,218 (GRCm39) T372A probably benign Het
Adamts8 C A 9: 30,865,930 (GRCm39) R493S probably benign Het
Ankrd33b G A 15: 31,297,830 (GRCm39) T309I probably damaging Het
Arhgap22 G A 14: 32,993,880 (GRCm39) W58* probably null Het
B4galt4 C T 16: 38,572,404 (GRCm39) probably benign Het
Bcl2a1a A T 9: 88,839,311 (GRCm39) I70L probably benign Het
Bst1 A G 5: 43,977,942 (GRCm39) D97G possibly damaging Het
Cand2 C T 6: 115,757,894 (GRCm39) T52M probably benign Het
Cd101 C A 3: 100,926,062 (GRCm39) R219L probably benign Het
Cd5l T A 3: 87,274,882 (GRCm39) D140E probably benign Het
Cdcp3 A T 7: 130,904,197 (GRCm39) probably benign Het
Cebpa A G 7: 34,819,906 (GRCm39) M355V possibly damaging Het
Cfap74 G A 4: 155,521,187 (GRCm39) E620K Het
Clec4a4 A G 6: 123,000,875 (GRCm39) E196G probably damaging Het
Cpxm1 T A 2: 130,235,360 (GRCm39) D544V probably damaging Het
Cwf19l2 T A 9: 3,447,245 (GRCm39) D535E probably benign Het
Daw1 T G 1: 83,175,898 (GRCm39) L212R probably benign Het
Dnm3 T A 1: 162,135,445 (GRCm39) T443S probably benign Het
Dock9 T C 14: 121,817,940 (GRCm39) D1627G probably damaging Het
Dohh A G 10: 81,223,735 (GRCm39) I263V probably benign Het
Dsp G A 13: 38,365,155 (GRCm39) V513M probably damaging Het
Dus4l G T 12: 31,690,692 (GRCm39) L320I possibly damaging Het
Edc4 A C 8: 106,617,857 (GRCm39) Q1139P probably damaging Het
Fam220a T A 5: 143,549,228 (GRCm39) C213* probably null Het
Fgf14 A T 14: 124,221,326 (GRCm39) Y159* probably null Het
Gm45861 A T 8: 28,019,632 (GRCm39) D749V unknown Het
Hip1 T C 5: 135,459,144 (GRCm39) T203A probably benign Het
Igfals A G 17: 25,099,014 (GRCm39) D35G possibly damaging Het
Itga4 T A 2: 79,145,332 (GRCm39) I716K probably damaging Het
Ndufb3 T C 1: 58,634,824 (GRCm39) Y59H probably damaging Het
Nxpe3 T C 16: 55,665,023 (GRCm39) H399R probably damaging Het
Nxph1 T C 6: 9,247,601 (GRCm39) S191P probably damaging Het
Or13c7e-ps1 G T 4: 43,781,432 (GRCm39) S299R probably benign Het
Or1p1 T C 11: 74,180,413 (GRCm39) S314P probably damaging Het
Pcdha11 T G 18: 37,145,799 (GRCm39) I630S probably damaging Het
Pfkl C G 10: 77,836,615 (GRCm39) G134A probably damaging Het
Phf19 A T 2: 34,795,484 (GRCm39) C196S probably damaging Het
Piezo2 T C 18: 63,248,096 (GRCm39) K468R probably benign Het
Plekhn1 T C 4: 156,310,078 (GRCm39) S79G possibly damaging Het
Pomk A G 8: 26,473,384 (GRCm39) Y190H possibly damaging Het
Ppp1r13b T A 12: 111,838,778 (GRCm39) E33D probably damaging Het
Raly A T 2: 154,705,493 (GRCm39) I174F probably damaging Het
Rint1 T C 5: 24,016,882 (GRCm39) V549A possibly damaging Het
Rnf31 T G 14: 55,833,689 (GRCm39) C566G probably damaging Het
Scart1 G A 7: 139,808,478 (GRCm39) W796* probably null Het
Sdc1 C T 12: 8,840,460 (GRCm39) T79I possibly damaging Het
Sema6a T G 18: 47,424,182 (GRCm39) E242A probably damaging Het
Slc22a30 A C 19: 8,315,340 (GRCm39) M430R probably damaging Het
Sp9 C A 2: 73,103,863 (GRCm39) T139K probably benign Het
Tbkbp1 T C 11: 97,040,327 (GRCm39) D29G probably benign Het
Tcf4 T C 18: 69,697,761 (GRCm39) probably benign Het
Tenm3 A T 8: 48,689,437 (GRCm39) I2050N probably damaging Het
Tiparp T A 3: 65,460,603 (GRCm39) F531I probably damaging Het
Tmem132b A T 5: 125,855,884 (GRCm39) I539F probably damaging Het
Ttf2 T C 3: 100,859,956 (GRCm39) D666G probably damaging Het
Vmn1r51 T C 6: 90,106,842 (GRCm39) S253P probably damaging Het
Vmn2r104 A G 17: 20,261,924 (GRCm39) I402T probably damaging Het
Vmn2r16 T C 5: 109,511,619 (GRCm39) Y609H probably benign Het
Vmn2r17 A T 5: 109,575,863 (GRCm39) M245L probably benign Het
Vmn2r42 C T 7: 8,197,792 (GRCm39) E276K probably benign Het
Wdr75 C A 1: 45,838,287 (GRCm39) N65K probably damaging Het
Zbtb47 A C 9: 121,596,705 (GRCm39) K687T probably damaging Het
Zfhx4 T C 3: 5,463,924 (GRCm39) S1361P probably damaging Het
Zfp317 T A 9: 19,558,708 (GRCm39) C396* probably null 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
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
R9719:Ncaph2 UTSW 15 89,249,526 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTGACTGAGTGCGAGATAGC -3'
(R):5'- TACCAGAGCTGACACAAGTG -3'

Sequencing Primer
(F):5'- GCAAGCACTTGGTCAACGTTTC -3'
(R):5'- CTGACACAAGTGGGGACAGTCC -3'
Posted On 2021-08-31