Incidental Mutation 'R5940:Ncapd2'
ID 462489
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 044132-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R5940 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 125144970-125168664 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125145832 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1310 (S1310P)
Ref Sequence ENSEMBL: ENSMUSP00000042260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043848] [ENSMUST00000073605] [ENSMUST00000117757] [ENSMUST00000118875] [ENSMUST00000183272] [ENSMUST00000182052] [ENSMUST00000182277]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043848
AA Change: S1310P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042260
Gene: ENSMUSG00000038252
AA Change: S1310P

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 noncoding transcript
Transcript: ENSMUST00000188119
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189706
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191080
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186667
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188665
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182670
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: ENSMUST00000182052
SMART Domains Protein: ENSMUSP00000138403
Gene: ENSMUSG00000057666

DomainStartEndE-ValueType
Gp_dh_N 1 55 2.96e-4 SMART
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 noncoding transcript
Transcript: ENSMUST00000192506
Meta Mutation Damage Score 0.0608 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 96% (88/92)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T C 14: 32,384,645 (GRCm39) Y440C possibly damaging Het
Aasdh G T 5: 77,030,745 (GRCm39) S618R probably benign Het
Alpk1 T G 3: 127,464,595 (GRCm39) T1228P probably benign Het
Ank3 T C 10: 69,756,316 (GRCm39) V850A probably benign Het
Apeh A T 9: 107,969,098 (GRCm39) probably null Het
Ash1l C T 3: 88,891,343 (GRCm39) T1074I probably damaging Het
C3 G A 17: 57,517,244 (GRCm39) S1297F possibly damaging Het
Cchcr1 G A 17: 35,835,890 (GRCm39) R284Q probably damaging Het
Cd93 A T 2: 148,284,152 (GRCm39) I398N probably benign Het
Cdcp3 A T 7: 130,839,992 (GRCm39) D638V probably damaging Het
Chrd G T 16: 20,553,336 (GRCm39) R226L probably null Het
Clvs1 A T 4: 9,449,443 (GRCm39) N344I possibly damaging Het
Cyp4v3 A T 8: 45,774,821 (GRCm39) I111N probably damaging Het
Cysltr2 T A 14: 73,267,389 (GRCm39) Y107F probably damaging Het
Cysltr2 T C 14: 73,266,931 (GRCm39) K260E probably benign Het
Czib A G 4: 107,750,485 (GRCm39) probably benign Het
Defb47 A T 14: 63,238,359 (GRCm39) E28D probably benign Het
Dnajc30 T A 5: 135,093,413 (GRCm39) Y103* probably null Het
Drap1 T C 19: 5,473,028 (GRCm39) T160A probably benign Het
Dsp A G 13: 38,380,002 (GRCm39) E2249G possibly damaging Het
E2f8 T A 7: 48,520,825 (GRCm39) I499F probably benign Het
Ebf1 T A 11: 44,512,048 (GRCm39) Y116N probably damaging Het
Ecrg4 C T 1: 43,776,401 (GRCm39) R41* probably null Het
Ect2 C A 3: 27,169,614 (GRCm39) E746D probably benign Het
Enpep T A 3: 129,106,227 (GRCm39) Y333F probably damaging Het
Fat4 T C 3: 38,943,798 (GRCm39) V897A probably benign Het
Gja3 T A 14: 57,273,317 (GRCm39) S352C probably damaging Het
Gpr153 C A 4: 152,367,832 (GRCm39) P561Q probably benign Het
Hlcs T C 16: 93,935,571 (GRCm39) M574V probably damaging Het
Hmcn1 A G 1: 150,532,973 (GRCm39) V3070A probably benign Het
Hsd3b2 G T 3: 98,619,287 (GRCm39) N219K probably benign Het
Htra3 T C 5: 35,810,324 (GRCm39) I453V possibly damaging Het
Klrc1 A T 6: 129,651,898 (GRCm39) M220K possibly damaging Het
Kntc1 T G 5: 123,924,258 (GRCm39) I1048S probably benign Het
Lrrc37 T C 11: 103,504,712 (GRCm39) S243G probably benign Het
Macf1 T A 4: 123,326,674 (GRCm39) D2822V probably damaging Het
Mcu T A 10: 59,292,554 (GRCm39) I42F possibly damaging Het
Mkln1 T A 6: 31,466,307 (GRCm39) D521E probably damaging Het
Ms4a13 T C 19: 11,170,330 (GRCm39) N5D possibly damaging Het
Msh3 T G 13: 92,386,351 (GRCm39) N838T probably damaging Het
Msl2 T A 9: 100,978,290 (GRCm39) C221* probably null Het
Ncoa6 A T 2: 155,257,785 (GRCm39) M586K probably damaging Het
Ndel1 C T 11: 68,713,397 (GRCm39) probably benign Het
Ndst4 T C 3: 125,355,068 (GRCm39) probably benign Het
Nes T G 3: 87,883,259 (GRCm39) V506G probably damaging Het
Nrg1 T C 8: 32,339,372 (GRCm39) K200E probably damaging Het
Nt5c1b A G 12: 10,425,515 (GRCm39) K295E probably damaging Het
Or4f54 G A 2: 111,122,729 (GRCm39) V39M possibly damaging Het
Or5b123 T A 19: 13,596,517 (GRCm39) probably null Het
Or6s1 T A 14: 51,308,179 (GRCm39) I224L probably damaging Het
Or8b4 C T 9: 37,830,733 (GRCm39) T260I probably damaging Het
Or8g51 G T 9: 38,609,007 (GRCm39) Y218* probably null Het
Or8k38 A T 2: 86,488,394 (GRCm39) M136K probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pde1a A G 2: 79,718,183 (GRCm39) probably null Het
Pds5a A G 5: 65,801,328 (GRCm39) probably benign Het
Plbd1 A T 6: 136,590,719 (GRCm39) probably benign Het
Plod2 T A 9: 92,473,450 (GRCm39) V292E probably benign Het
Polg A G 7: 79,103,819 (GRCm39) V879A possibly damaging Het
Ppargc1a C T 5: 51,631,253 (GRCm39) A459T probably damaging Het
Prorp T A 12: 55,351,659 (GRCm39) W323R probably damaging Het
Psip1 T C 4: 83,394,559 (GRCm39) E83G probably damaging Het
Rhbdf1 T C 11: 32,159,847 (GRCm39) D843G probably benign Het
Rnpepl1 G T 1: 92,845,434 (GRCm39) C451F probably damaging Het
Rrp1 T C 10: 78,241,249 (GRCm39) D206G probably damaging Het
Setbp1 A T 18: 78,798,703 (GRCm39) D1492E probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc16a6 C T 11: 109,364,022 (GRCm39) probably benign Homo
Slc7a6os A G 8: 106,937,437 (GRCm39) S37P probably damaging Het
Tenm4 T A 7: 96,495,102 (GRCm39) S1140T probably damaging Het
Thoc6 C A 17: 23,889,315 (GRCm39) R115L probably benign Het
Tmem63c C T 12: 87,121,946 (GRCm39) H385Y probably benign Het
Trpm8 G T 1: 88,279,137 (GRCm39) E649* probably null Het
Usf1 A G 1: 171,245,347 (GRCm39) E253G possibly damaging Het
Vps13d T C 4: 144,801,545 (GRCm39) T443A probably benign Het
Wdr86 T C 5: 24,927,660 (GRCm39) Y93C probably damaging Het
Zfp597 A T 16: 3,683,685 (GRCm39) I357N probably damaging Het
Zfp709 A G 8: 72,644,064 (GRCm39) I497V possibly damaging Het
Zxdc T C 6: 90,347,307 (GRCm39) S223P 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
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
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'- CGGCTTAGGTGTGACAAAGTC -3'
(R):5'- GTTGGAATCACAGTTTCAGATTGG -3'

Sequencing Primer
(F):5'- GTCATTGTCTGAGTCTACAGAAGTC -3'
(R):5'- CATGGCTATTTCTTTTTAAGCAGGG -3'
Posted On 2017-02-28