Incidental Mutation 'R1698:Ncapd2'
ID 192407
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 039731-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R1698 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 125144970-125168664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 125145553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 1365 (E1365K)
Ref Sequence ENSEMBL: ENSMUSP00000042260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043848] [ENSMUST00000073605] [ENSMUST00000117757] [ENSMUST00000118875] [ENSMUST00000182052] [ENSMUST00000183272] [ENSMUST00000182277]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000043848
AA Change: E1365K

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: E1365K

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: ENSMUST00000188119
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191080
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182670
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192506
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186667
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182115
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
Predicted Effect probably benign
Transcript: ENSMUST00000182277
SMART Domains Protein: ENSMUSP00000138295
Gene: ENSMUSG00000057666

DomainStartEndE-ValueType
Gp_dh_N 2 57 2.75e-8 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A C 6: 121,622,117 (GRCm39) E340A possibly damaging Het
Abca13 A G 11: 9,264,507 (GRCm39) D2963G probably benign Het
Actn3 T C 19: 4,912,235 (GRCm39) D783G possibly damaging Het
Adamtsl2 A G 2: 26,993,139 (GRCm39) E723G possibly damaging Het
Agrn G T 4: 156,251,015 (GRCm39) Q1931K probably benign Het
Ankrd27 G A 7: 35,313,946 (GRCm39) A426T probably benign Het
Atg9b C A 5: 24,593,186 (GRCm39) G406C probably damaging Het
C1ra A T 6: 124,499,725 (GRCm39) Q637L probably benign Het
Cdhr2 A T 13: 54,867,394 (GRCm39) M438L probably benign Het
Cep350 T C 1: 155,829,104 (GRCm39) I267V possibly damaging Het
Chrna5 A G 9: 54,911,926 (GRCm39) Y138C probably damaging Het
Chst3 T A 10: 60,021,525 (GRCm39) M441L probably benign Het
Cmya5 G A 13: 93,200,027 (GRCm39) P3434S probably benign Het
Cog2 T A 8: 125,252,422 (GRCm39) L42Q probably damaging Het
Cpq A T 15: 33,250,272 (GRCm39) I210F probably benign Het
Crnn C A 3: 93,055,765 (GRCm39) Q184K probably damaging Het
Csnka2ip A T 16: 64,298,422 (GRCm39) Y647* probably null Het
D5Ertd579e C T 5: 36,761,874 (GRCm39) R1331H probably benign Het
Dennd5a C T 7: 109,516,587 (GRCm39) probably null Het
Dync1h1 A G 12: 110,593,426 (GRCm39) Q1231R possibly damaging Het
Erbin T A 13: 103,970,239 (GRCm39) I1126F possibly damaging Het
Fastkd1 T C 2: 69,532,813 (GRCm39) D518G probably benign Het
Gcc1 A G 6: 28,421,110 (GRCm39) L69P possibly damaging Het
Gkn1 T C 6: 87,324,151 (GRCm39) Y119C probably damaging Het
Gmpr T G 13: 45,670,520 (GRCm39) W81G probably benign Het
Gyg1 T A 3: 20,192,215 (GRCm39) I236F probably benign Het
Hcrtr2 T C 9: 76,153,735 (GRCm39) Y219C probably damaging Het
Hmcn1 G A 1: 150,441,120 (GRCm39) Q5379* probably null Het
Kank1 T C 19: 25,388,681 (GRCm39) C785R probably benign Het
Lrp1b A T 2: 40,741,818 (GRCm39) C3036* probably null Het
Mdga2 T C 12: 66,736,109 (GRCm39) D373G probably damaging Het
Mgat2 A T 12: 69,232,493 (GRCm39) I356F probably benign Het
Miga2 A G 2: 30,268,009 (GRCm39) D346G probably damaging Het
Mprip T A 11: 59,651,084 (GRCm39) L1596Q possibly damaging Het
Mroh2b G A 15: 4,943,622 (GRCm39) R386Q probably benign Het
Mst1r T A 9: 107,797,179 (GRCm39) S1349R probably benign Het
Mtmr3 C T 11: 4,442,825 (GRCm39) R403H possibly damaging Het
Mycbpap G A 11: 94,398,969 (GRCm39) Q460* probably null Het
Myo9a T C 9: 59,775,464 (GRCm39) V1025A probably benign Het
Nkiras2 C A 11: 100,515,989 (GRCm39) D105E probably damaging Het
Nolc1 T G 19: 46,069,870 (GRCm39) probably null Het
Nos1 T C 5: 118,005,297 (GRCm39) F6L probably benign Het
Or10j3 A T 1: 173,030,938 (GRCm39) N5I probably damaging Het
Or12e1 G T 2: 87,022,081 (GRCm39) V17L probably benign Het
Or2t46 T C 11: 58,472,077 (GRCm39) Y136H probably damaging Het
Or2w1b C T 13: 21,300,735 (GRCm39) T291I probably benign Het
Or4f54 T A 2: 111,122,905 (GRCm39) C97* probably null Het
Or8b46 T A 9: 38,450,552 (GRCm39) Y120* probably null Het
Pfkm A G 15: 98,026,199 (GRCm39) E598G possibly damaging Het
Phf2 A T 13: 48,961,106 (GRCm39) D861E unknown Het
Polr2a A G 11: 69,630,703 (GRCm39) probably null Het
Popdc2 G A 16: 38,189,853 (GRCm39) V167M probably damaging Het
Ptpn22 T C 3: 103,793,114 (GRCm39) S422P probably benign Het
Rasa2 T C 9: 96,450,428 (GRCm39) K490R possibly damaging Het
Rbfox3 T A 11: 118,386,047 (GRCm39) D286V probably damaging Het
Rdh13 A G 7: 4,430,790 (GRCm39) W223R probably damaging Het
Riok3 T C 18: 12,261,986 (GRCm39) S7P probably benign Het
Rnaseh2b A G 14: 62,591,081 (GRCm39) E144G probably benign Het
Rnf20 C T 4: 49,651,498 (GRCm39) Q655* probably null Het
Rpap2 T C 5: 107,751,416 (GRCm39) Y8H probably damaging Het
Slc5a10 T C 11: 61,600,428 (GRCm39) Y181C probably benign Het
Snd1 G T 6: 28,888,252 (GRCm39) G896* probably null Het
Spast C T 17: 74,663,155 (GRCm39) Q158* probably null Het
Tas2r104 G A 6: 131,662,547 (GRCm39) S54F probably damaging Het
Tcaf2 C T 6: 42,604,951 (GRCm39) W611* probably null Het
Thoc2l C T 5: 104,668,376 (GRCm39) A966V probably benign Het
Timp4 G A 6: 115,227,364 (GRCm39) probably null Het
Tmem45a G A 16: 56,643,933 (GRCm39) S72L probably benign Het
Tnrc18 T C 5: 142,774,458 (GRCm39) T124A possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ttn T C 2: 76,773,259 (GRCm39) D2381G probably damaging Het
Uevld T C 7: 46,605,372 (GRCm39) T41A possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Unc5d T C 8: 29,186,506 (GRCm39) E527G probably damaging Het
Vmn2r125 C T 4: 156,703,333 (GRCm39) T237I probably benign Het
Vmn2r63 A C 7: 42,583,038 (GRCm39) I59S probably benign Het
Vps72 G A 3: 95,026,006 (GRCm39) S106N probably benign Het
Zan A C 5: 137,407,931 (GRCm39) probably benign Het
Zbtb38 T C 9: 96,567,515 (GRCm39) K1190E probably benign Het
Zc3h6 T C 2: 128,859,278 (GRCm39) V1103A probably benign Het
Zfp407 G A 18: 84,580,282 (GRCm39) T277I probably damaging Het
Zfp804b A G 5: 6,819,509 (GRCm39) S1149P 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
R0699:Ncapd2 UTSW 6 125,146,843 (GRCm39) missense probably benign
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
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'- TCATCCAGTAAGATACCCTGCACGG -3'
(R):5'- TCTCAAGGCTACAGCCTCTGACTTC -3'

Sequencing Primer
(F):5'- TGGATCTCAAAGTAAACACATGCG -3'
(R):5'- CTGTAGACTCAGACAATGACTTTG -3'
Posted On 2014-05-14