Incidental Mutation 'R0699:Ncapd2'
ID 62957
Institutional Source Beutler Lab
Gene Symbol Ncapd2
Ensembl Gene ENSMUSG00000038252
Gene Name non-SMC condensin I complex, subunit D2
Synonyms 2810406C15Rik, CAP-D2, CNAP1, 2810465G24Rik
MMRRC Submission 038883-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R0699 (G1)
Quality Score 161
Status Validated
Chromosome 6
Chromosomal Location 125144970-125168664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 125146843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 1248 (S1248A)
Ref Sequence ENSEMBL: ENSMUSP00000042260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043848] [ENSMUST00000073605] [ENSMUST00000117757] [ENSMUST00000118875] [ENSMUST00000182052] [ENSMUST00000182277] [ENSMUST00000183272]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043848
AA Change: S1248A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: S1248A

DomainStartEndE-ValueType
Pfam:Cnd1_N 75 240 1.4e-41 PFAM
low complexity region 461 472 N/A INTRINSIC
low complexity region 936 949 N/A INTRINSIC
Pfam:Cnd1 1058 1224 2.5e-65 PFAM
low complexity region 1329 1345 N/A INTRINSIC
low complexity region 1357 1369 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073605
SMART Domains Protein: ENSMUSP00000073289
Gene: ENSMUSG00000057666

DomainStartEndE-ValueType
Gp_dh_N 2 143 4.2e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117757
SMART Domains Protein: ENSMUSP00000113942
Gene: ENSMUSG00000057666

DomainStartEndE-ValueType
Gp_dh_N 2 150 7.33e-109 SMART
Pfam:Gp_dh_C 155 312 5.2e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118875
SMART Domains Protein: ENSMUSP00000113213
Gene: ENSMUSG00000057666

DomainStartEndE-ValueType
Gp_dh_N 2 150 7.33e-109 SMART
Pfam:Gp_dh_C 155 312 7.4e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144588
Predicted Effect probably benign
Transcript: ENSMUST00000182052
SMART Domains Protein: ENSMUSP00000138403
Gene: ENSMUSG00000057666

DomainStartEndE-ValueType
Gp_dh_N 1 55 2.96e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186667
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191080
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182670
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188119
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189706
Predicted Effect probably benign
Transcript: ENSMUST00000182277
SMART Domains Protein: ENSMUSP00000138295
Gene: ENSMUSG00000057666

DomainStartEndE-ValueType
Gp_dh_N 2 57 2.75e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183272
SMART Domains Protein: ENSMUSP00000138508
Gene: ENSMUSG00000057666

DomainStartEndE-ValueType
Gp_dh_N 2 107 7.93e-64 SMART
Pfam:Gp_dh_C 112 269 3e-76 PFAM
Meta Mutation Damage Score 0.0620 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.8%
Validation Efficiency 98% (120/123)
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 G A 11: 9,538,508 (GRCm39) probably benign Het
Abcb6 C T 1: 75,148,553 (GRCm39) E89K probably damaging Het
Adam25 C A 8: 41,209,011 (GRCm39) T759K probably benign Het
Adgrf5 G A 17: 43,733,552 (GRCm39) probably null Het
Aimp1 A T 3: 132,380,626 (GRCm39) probably benign Het
Aldh3a2 C T 11: 61,153,148 (GRCm39) V193I probably benign Het
Ank2 C T 3: 126,723,478 (GRCm39) V950I probably benign Het
Aspn A G 13: 49,705,258 (GRCm39) D40G possibly damaging Het
C1rl A G 6: 124,485,595 (GRCm39) D322G probably benign Het
Car5a T C 8: 122,671,555 (GRCm39) probably benign Het
Cfap107 G T 4: 144,146,322 (GRCm39) N110K probably damaging Het
Cfap157 T A 2: 32,669,022 (GRCm39) K360N probably damaging Het
Cilp T A 9: 65,177,608 (GRCm39) F117Y probably damaging Het
Cntnap5c T G 17: 58,349,493 (GRCm39) W269G probably damaging Het
Col6a1 A G 10: 76,552,114 (GRCm39) V459A unknown Het
Commd3 A G 2: 18,679,786 (GRCm39) E165G possibly damaging Het
Cops3 A C 11: 59,717,148 (GRCm39) Y244D probably damaging Het
Cpne5 T A 17: 29,428,667 (GRCm39) K108N probably damaging Het
Cracdl T C 1: 37,651,411 (GRCm39) D1152G possibly damaging Het
Ddx41 A G 13: 55,679,112 (GRCm39) probably benign Het
Dnhd1 T C 7: 105,301,113 (GRCm39) Y157H probably damaging Het
Dpp8 A T 9: 64,962,176 (GRCm39) L405F probably benign Het
Dync2h1 G T 9: 7,103,680 (GRCm39) A365E probably benign Het
Dysf C T 6: 84,167,828 (GRCm39) R1757W probably benign Het
Eif1ad T A 19: 5,418,726 (GRCm39) V93D possibly damaging Het
Eif2ak3 T C 6: 70,869,514 (GRCm39) F734L probably benign Het
F8 T C X: 74,423,230 (GRCm39) probably benign Het
Fbxl14 T C 6: 119,457,715 (GRCm39) Y299H probably benign Het
Fmo1 T C 1: 162,661,341 (GRCm39) N314S probably benign Het
Fnip2 T C 3: 79,388,446 (GRCm39) T762A probably benign Het
Gfra1 A C 19: 58,258,555 (GRCm39) S271A probably benign Het
Gm9932 T C 5: 100,346,931 (GRCm39) V43A probably damaging Het
Herc6 T C 6: 57,558,092 (GRCm39) L24P probably damaging Het
Hmcn1 T C 1: 150,695,161 (GRCm39) T248A probably damaging Het
Hook1 T A 4: 95,884,077 (GRCm39) probably benign Het
Ifne T C 4: 88,798,014 (GRCm39) S135G probably benign Het
Igkv13-84 G A 6: 68,916,635 (GRCm39) probably benign Het
Itm2b T A 14: 73,602,065 (GRCm39) N211I probably damaging Het
Kcnh5 A T 12: 75,023,305 (GRCm39) C588S possibly damaging Het
Kif13a A T 13: 46,952,689 (GRCm39) W699R possibly damaging Het
Kmt2e T C 5: 23,678,581 (GRCm39) V220A probably benign Het
Macrod2 T C 2: 140,260,836 (GRCm39) probably null Het
Map3k6 A G 4: 132,975,437 (GRCm39) E724G probably damaging Het
Mgam T C 6: 40,619,953 (GRCm39) L14P possibly damaging Het
Morc1 T A 16: 48,412,977 (GRCm39) M706K probably benign Het
Muc2 T C 7: 141,306,037 (GRCm39) V242A probably damaging Het
Mx2 T A 16: 97,345,753 (GRCm39) V57E probably damaging Het
Myh14 C A 7: 44,274,395 (GRCm39) A1339S possibly damaging Het
Myom1 G T 17: 71,374,308 (GRCm39) S595I probably damaging Het
Nav1 T A 1: 135,380,687 (GRCm39) M1471L probably benign Het
Ncbp1 T C 4: 46,147,528 (GRCm39) V125A probably benign Het
Ncor2 A T 5: 125,106,176 (GRCm39) probably benign Het
Nobox T A 6: 43,284,144 (GRCm39) Q134L probably benign Het
Npc1 T C 18: 12,343,632 (GRCm39) T454A probably benign Het
Ntng1 G T 3: 109,779,611 (GRCm39) T322K probably damaging Het
Olfm5 T C 7: 103,803,326 (GRCm39) E379G probably damaging Het
Oma1 T C 4: 103,210,792 (GRCm39) S433P probably damaging Het
Or1ad6 T C 11: 50,860,645 (GRCm39) S267P probably damaging Het
Or1b1 T C 2: 36,995,074 (GRCm39) D196G possibly damaging Het
Or4c105 A T 2: 88,647,568 (GRCm39) N18Y probably damaging Het
Or4c107 C T 2: 88,788,960 (GRCm39) T50I probably benign Het
Or4c113 C T 2: 88,885,636 (GRCm39) V45M possibly damaging Het
Parp14 G A 16: 35,680,955 (GRCm39) T226M probably damaging Het
Parp8 A T 13: 117,059,120 (GRCm39) H168Q probably benign Het
Pik3cg G A 12: 32,247,341 (GRCm39) probably benign Het
Pla2g3 T C 11: 3,442,000 (GRCm39) F388S probably damaging Het
Plaat3 T A 19: 7,535,366 (GRCm39) probably null Het
Pllp T C 8: 95,422,660 (GRCm39) probably null Het
Ppfibp1 T A 6: 146,927,720 (GRCm39) V778E probably damaging Het
Prkci T C 3: 31,104,422 (GRCm39) V595A possibly damaging Het
Prune2 T A 19: 17,101,319 (GRCm39) D2274E probably damaging Het
Rad51ap2 A T 12: 11,507,601 (GRCm39) T508S probably benign Het
Ranbp3l T C 15: 9,058,850 (GRCm39) probably null Het
Rfc1 A C 5: 65,476,742 (GRCm39) probably null Het
Rin3 G A 12: 102,335,834 (GRCm39) V502I probably damaging Het
Rtn4rl1 A T 11: 75,156,048 (GRCm39) H160L possibly damaging Het
Rtn4rl1 A T 11: 75,156,050 (GRCm39) I161F probably benign Het
Serpinb9b A T 13: 33,217,549 (GRCm39) M116L probably benign Het
Sgo2a C T 1: 58,037,308 (GRCm39) R18* probably null Het
Sh3gl2 T A 4: 85,265,408 (GRCm39) D31E probably benign Het
Slc38a9 T C 13: 112,859,823 (GRCm39) L419S probably damaging Het
Sp8 AGCGGCGGCGGCGGCGG AGCGGCGGCGGCGG 12: 118,812,555 (GRCm39) probably benign Het
Spen G T 4: 141,201,702 (GRCm39) N2308K possibly damaging Het
Stac2 A G 11: 97,933,611 (GRCm39) I156T possibly damaging Het
Stambp A G 6: 83,533,303 (GRCm39) F320S probably damaging Het
Tas2r117 A T 6: 132,780,161 (GRCm39) N100Y probably damaging Het
Tigd3 A T 19: 5,941,974 (GRCm39) S385R probably benign Het
Tmem30c T C 16: 57,097,152 (GRCm39) D136G possibly damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Tnrc6c A G 11: 117,613,447 (GRCm39) Q535R probably benign Het
Trmt2a T C 16: 18,067,393 (GRCm39) V22A probably benign Het
Tut7 G A 13: 59,929,828 (GRCm39) probably benign Het
Wipf3 A C 6: 54,460,817 (GRCm39) K88N probably damaging Het
Zfp974 T C 7: 27,611,416 (GRCm39) E103G possibly damaging Het
Zscan10 C T 17: 23,827,092 (GRCm39) T135I probably damaging Het
Other mutations in Ncapd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00477:Ncapd2 APN 6 125,150,388 (GRCm39) missense probably benign 0.05
IGL00960:Ncapd2 APN 6 125,150,811 (GRCm39) missense probably benign
IGL01307:Ncapd2 APN 6 125,145,582 (GRCm39) missense possibly damaging 0.56
IGL01612:Ncapd2 APN 6 125,154,835 (GRCm39) missense probably benign 0.01
IGL01903:Ncapd2 APN 6 125,154,423 (GRCm39) missense probably benign
IGL01987:Ncapd2 APN 6 125,162,804 (GRCm39) splice site probably benign
IGL01998:Ncapd2 APN 6 125,146,896 (GRCm39) missense probably damaging 1.00
IGL01998:Ncapd2 APN 6 125,150,078 (GRCm39) missense probably benign 0.18
IGL02329:Ncapd2 APN 6 125,166,781 (GRCm39) missense probably damaging 0.99
IGL02550:Ncapd2 APN 6 125,154,410 (GRCm39) missense probably benign
IGL02662:Ncapd2 APN 6 125,153,694 (GRCm39) missense probably damaging 1.00
IGL02817:Ncapd2 APN 6 125,147,877 (GRCm39) critical splice donor site probably null
IGL03121:Ncapd2 APN 6 125,150,575 (GRCm39) missense probably benign 0.00
IGL03206:Ncapd2 APN 6 125,148,660 (GRCm39) missense possibly damaging 0.85
FR4548:Ncapd2 UTSW 6 125,150,559 (GRCm39) critical splice donor site probably benign
PIT4305001:Ncapd2 UTSW 6 125,160,990 (GRCm39) nonsense probably null
R0486:Ncapd2 UTSW 6 125,160,990 (GRCm39) nonsense probably null
R0635:Ncapd2 UTSW 6 125,149,999 (GRCm39) missense probably benign 0.00
R0746:Ncapd2 UTSW 6 125,151,227 (GRCm39) missense possibly damaging 0.50
R0893:Ncapd2 UTSW 6 125,150,445 (GRCm39) missense probably benign
R1385:Ncapd2 UTSW 6 125,150,078 (GRCm39) missense probably benign 0.18
R1513:Ncapd2 UTSW 6 125,147,955 (GRCm39) missense probably damaging 1.00
R1601:Ncapd2 UTSW 6 125,162,735 (GRCm39) missense probably damaging 1.00
R1698:Ncapd2 UTSW 6 125,145,553 (GRCm39) missense probably null 0.39
R2030:Ncapd2 UTSW 6 125,153,678 (GRCm39) missense possibly damaging 0.95
R2035:Ncapd2 UTSW 6 125,161,491 (GRCm39) missense probably benign 0.17
R2359:Ncapd2 UTSW 6 125,156,379 (GRCm39) unclassified probably benign
R3951:Ncapd2 UTSW 6 125,163,747 (GRCm39) missense probably damaging 0.98
R3952:Ncapd2 UTSW 6 125,163,747 (GRCm39) missense probably damaging 0.98
R3953:Ncapd2 UTSW 6 125,147,697 (GRCm39) missense probably damaging 0.96
R4623:Ncapd2 UTSW 6 125,150,572 (GRCm39) missense probably benign 0.04
R4630:Ncapd2 UTSW 6 125,156,196 (GRCm39) splice site probably null
R4667:Ncapd2 UTSW 6 125,161,481 (GRCm39) missense possibly damaging 0.69
R4769:Ncapd2 UTSW 6 125,162,708 (GRCm39) missense probably damaging 1.00
R4936:Ncapd2 UTSW 6 125,146,803 (GRCm39) missense probably benign 0.18
R5130:Ncapd2 UTSW 6 125,146,887 (GRCm39) missense possibly damaging 0.90
R5465:Ncapd2 UTSW 6 125,153,746 (GRCm39) missense probably damaging 0.98
R5806:Ncapd2 UTSW 6 125,158,117 (GRCm39) missense probably damaging 0.98
R5823:Ncapd2 UTSW 6 125,145,663 (GRCm39) missense probably benign 0.00
R5888:Ncapd2 UTSW 6 125,164,052 (GRCm39) missense probably damaging 1.00
R5940:Ncapd2 UTSW 6 125,145,832 (GRCm39) missense probably benign
R6198:Ncapd2 UTSW 6 125,156,286 (GRCm39) nonsense probably null
R6406:Ncapd2 UTSW 6 125,150,841 (GRCm39) missense probably benign
R6652:Ncapd2 UTSW 6 125,163,233 (GRCm39) missense probably benign 0.13
R6959:Ncapd2 UTSW 6 125,145,883 (GRCm39) missense probably benign
R6977:Ncapd2 UTSW 6 125,148,472 (GRCm39) missense probably damaging 1.00
R6982:Ncapd2 UTSW 6 125,153,699 (GRCm39) missense probably damaging 0.96
R7143:Ncapd2 UTSW 6 125,156,524 (GRCm39) missense probably benign
R7144:Ncapd2 UTSW 6 125,153,633 (GRCm39) missense probably benign 0.11
R7186:Ncapd2 UTSW 6 125,163,119 (GRCm39) missense possibly damaging 0.89
R7203:Ncapd2 UTSW 6 125,161,291 (GRCm39) missense possibly damaging 0.58
R7384:Ncapd2 UTSW 6 125,150,364 (GRCm39) missense probably benign
R8039:Ncapd2 UTSW 6 125,157,989 (GRCm39) missense probably damaging 0.98
R8047:Ncapd2 UTSW 6 125,166,762 (GRCm39) missense probably damaging 0.98
R8048:Ncapd2 UTSW 6 125,156,661 (GRCm39) nonsense probably null
R8056:Ncapd2 UTSW 6 125,148,006 (GRCm39) missense probably damaging 1.00
R8097:Ncapd2 UTSW 6 125,145,945 (GRCm39) missense possibly damaging 0.78
R8489:Ncapd2 UTSW 6 125,150,745 (GRCm39) missense probably damaging 0.98
R8496:Ncapd2 UTSW 6 125,147,127 (GRCm39) missense probably damaging 0.99
R8755:Ncapd2 UTSW 6 125,148,817 (GRCm39) missense possibly damaging 0.69
R8776:Ncapd2 UTSW 6 125,154,476 (GRCm39) missense probably benign
R8776-TAIL:Ncapd2 UTSW 6 125,154,476 (GRCm39) missense probably benign
R9015:Ncapd2 UTSW 6 125,145,285 (GRCm39) unclassified probably benign
R9042:Ncapd2 UTSW 6 125,156,301 (GRCm39) missense probably benign
R9358:Ncapd2 UTSW 6 125,163,106 (GRCm39) missense probably benign 0.00
R9437:Ncapd2 UTSW 6 125,153,655 (GRCm39) missense probably damaging 0.99
RF045:Ncapd2 UTSW 6 125,156,199 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GGCAGAAAGTTCAGACAGGAGTCTC -3'
(R):5'- GCTTGGTAGAAAAGCTGTGTCAGCG -3'

Sequencing Primer
(F):5'- CAGGAGTCTCAGAGCACTTAG -3'
(R):5'- ACATCTTTGTGCTAAGAGGGACC -3'
Posted On 2013-07-30