Incidental Mutation 'R1968:Nckap5'
ID 219146
Institutional Source Beutler Lab
Gene Symbol Nckap5
Ensembl Gene ENSMUSG00000049690
Gene Name NCK-associated protein 5
Synonyms LOC380609, D130011D22Rik, E030049G20Rik
MMRRC Submission 039981-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1968 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 125841373-126758529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 125942367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 209 (D209V)
Ref Sequence ENSEMBL: ENSMUSP00000124748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057846] [ENSMUST00000094609] [ENSMUST00000094610] [ENSMUST00000112583] [ENSMUST00000161954] [ENSMUST00000162877]
AlphaFold E9QAE1
Predicted Effect possibly damaging
Transcript: ENSMUST00000057846
AA Change: D1515V

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: D1515V

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
coiled coil region 108 186 N/A INTRINSIC
low complexity region 321 332 N/A INTRINSIC
low complexity region 755 771 N/A INTRINSIC
low complexity region 950 971 N/A INTRINSIC
low complexity region 1070 1085 N/A INTRINSIC
low complexity region 1181 1200 N/A INTRINSIC
Pfam:NCKAP5 1298 1602 1.8e-120 PFAM
low complexity region 1728 1742 N/A INTRINSIC
low complexity region 1757 1771 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000094609
AA Change: D277V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092192
Gene: ENSMUSG00000049690
AA Change: D277V

DomainStartEndE-ValueType
low complexity region 70 93 N/A INTRINSIC
Pfam:NCKAP5 113 364 3.6e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094610
AA Change: D15V

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000092193
Gene: ENSMUSG00000049690
AA Change: D15V

DomainStartEndE-ValueType
Pfam:NCKAP5 1 101 8.8e-42 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000112583
AA Change: D1647V

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: D1647V

DomainStartEndE-ValueType
low complexity region 70 93 N/A INTRINSIC
coiled coil region 176 254 N/A INTRINSIC
low complexity region 301 324 N/A INTRINSIC
low complexity region 453 464 N/A INTRINSIC
low complexity region 887 903 N/A INTRINSIC
low complexity region 1082 1103 N/A INTRINSIC
low complexity region 1202 1217 N/A INTRINSIC
low complexity region 1313 1332 N/A INTRINSIC
Pfam:NCKAP5 1431 1733 5.3e-119 PFAM
low complexity region 1860 1874 N/A INTRINSIC
low complexity region 1889 1903 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000161954
AA Change: D1579V

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: D1579V

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
coiled coil region 108 186 N/A INTRINSIC
low complexity region 233 256 N/A INTRINSIC
low complexity region 385 396 N/A INTRINSIC
low complexity region 819 835 N/A INTRINSIC
low complexity region 1014 1035 N/A INTRINSIC
low complexity region 1134 1149 N/A INTRINSIC
low complexity region 1245 1264 N/A INTRINSIC
Pfam:NCKAP5 1362 1666 2.1e-120 PFAM
low complexity region 1792 1806 N/A INTRINSIC
low complexity region 1821 1835 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162877
AA Change: D209V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124748
Gene: ENSMUSG00000049690
AA Change: D209V

DomainStartEndE-ValueType
Pfam:NCKAP5 9 296 6e-36 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A G 4: 144,397,193 (GRCm39) Y180H possibly damaging Het
Abcc10 A T 17: 46,633,125 (GRCm39) L528Q probably damaging Het
Adam18 T A 8: 25,136,463 (GRCm39) T353S probably benign Het
Aldh1a3 A G 7: 66,061,248 (GRCm39) probably null Het
Aldh3b2 T A 19: 4,030,705 (GRCm39) M390K probably benign Het
Arhgap45 T C 10: 79,863,536 (GRCm39) I793T probably damaging Het
Arsb A G 13: 93,944,067 (GRCm39) M253V probably benign Het
Atcay T C 10: 81,048,312 (GRCm39) D258G possibly damaging Het
Atf1 G T 15: 100,152,395 (GRCm39) probably null Het
Atp1a4 C T 1: 172,067,731 (GRCm39) E511K probably benign Het
Atp8a1 A G 5: 67,825,000 (GRCm39) V777A probably benign Het
Baz1a T C 12: 54,947,122 (GRCm39) T1173A possibly damaging Het
Bdh2 A T 3: 134,991,370 (GRCm39) D15V probably benign Het
Cacna1e T C 1: 154,576,240 (GRCm39) Y69C probably damaging Het
Caskin2 A G 11: 115,694,440 (GRCm39) L387P probably benign Het
Cat T C 2: 103,315,334 (GRCm39) E17G probably benign Het
Ccdc15 T C 9: 37,259,091 (GRCm39) I54M probably benign Het
Ccn1 T C 3: 145,353,965 (GRCm39) Y275C probably damaging Het
Cdhr1 T G 14: 36,801,682 (GRCm39) I754L probably benign Het
Cep120 G A 18: 53,856,313 (GRCm39) T368I probably benign Het
Cep126 C A 9: 8,100,909 (GRCm39) D542Y probably damaging Het
Cep135 T C 5: 76,772,594 (GRCm39) S660P possibly damaging Het
Cfap70 A T 14: 20,470,879 (GRCm39) S455R possibly damaging Het
Chd8 A G 14: 52,458,450 (GRCm39) M886T probably damaging Het
Ckap5 T C 2: 91,416,688 (GRCm39) S1098P probably benign Het
Clec4e A T 6: 123,260,533 (GRCm39) I204N probably damaging Het
Cntnap5c G A 17: 58,666,291 (GRCm39) R1107H probably damaging Het
Cramp1 T C 17: 25,183,913 (GRCm39) D1234G probably damaging Het
Csf1r A T 18: 61,245,867 (GRCm39) I275L probably benign Het
Cyp27a1 A G 1: 74,776,435 (GRCm39) E457G probably benign Het
Cyp2d11 T C 15: 82,273,749 (GRCm39) T410A probably benign Het
Cyp2d22 G C 15: 82,257,373 (GRCm39) T264S probably benign Het
Daam2 G A 17: 49,790,088 (GRCm39) R390W probably damaging Het
Decr2 T C 17: 26,302,053 (GRCm39) S226G probably benign Het
Dennd6b T C 15: 89,074,544 (GRCm39) D91G possibly damaging Het
Dglucy T C 12: 100,825,903 (GRCm39) V515A possibly damaging Het
Dlg5 A T 14: 24,214,187 (GRCm39) L734* probably null Het
Dop1b A G 16: 93,579,307 (GRCm39) N1690D probably damaging Het
Exoc5 A G 14: 49,272,347 (GRCm39) Y356H probably benign Het
Fut7 T A 2: 25,315,738 (GRCm39) V332D probably benign Het
Gnas T C 2: 174,140,526 (GRCm39) S232P probably damaging Het
Gramd4 A G 15: 86,017,106 (GRCm39) E522G probably damaging Het
Gys1 A G 7: 45,092,970 (GRCm39) T297A probably damaging Het
Herc4 T C 10: 63,109,304 (GRCm39) S180P probably benign Het
Hivep3 C T 4: 119,953,435 (GRCm39) P584S possibly damaging Het
Irag2 T A 6: 145,115,499 (GRCm39) S310T probably damaging Het
Itpk1 G T 12: 102,641,729 (GRCm39) probably null Het
Jmjd1c A T 10: 67,061,219 (GRCm39) S1191C probably damaging Het
Lima1 T C 15: 99,717,565 (GRCm39) N147S probably benign Het
Map4k5 G A 12: 69,865,266 (GRCm39) T506I probably damaging Het
Mat1a A T 14: 40,832,991 (GRCm39) E58V probably damaging Het
Mfsd13a T C 19: 46,360,492 (GRCm39) L348P probably damaging Het
Mon2 A G 10: 122,845,470 (GRCm39) Y1413H probably damaging Het
Mpp3 C A 11: 101,909,378 (GRCm39) probably benign Het
Mpp4 T A 1: 59,183,961 (GRCm39) I260F probably damaging Het
Myocd C A 11: 65,091,733 (GRCm39) G70C probably damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nlrp9a A G 7: 26,264,366 (GRCm39) K707R probably benign Het
Npr3 A G 15: 11,905,055 (GRCm39) L224S probably benign Het
Or5m9b T A 2: 85,905,549 (GRCm39) L155Q probably damaging Het
Or5w20 T A 2: 87,727,383 (GRCm39) V280E probably damaging Het
Or6c74 A G 10: 129,869,602 (GRCm39) S36G probably damaging Het
Otof C T 5: 30,545,998 (GRCm39) D467N probably damaging Het
Paxx T C 2: 25,350,640 (GRCm39) probably benign Het
Pcmt1 G A 10: 7,516,474 (GRCm39) R179* probably null Het
Phkb T A 8: 86,697,580 (GRCm39) V463D probably benign Het
Prkcq T C 2: 11,250,208 (GRCm39) V175A probably damaging Het
Rasl11b T G 5: 74,356,797 (GRCm39) I58S probably damaging Het
Rb1cc1 A T 1: 6,318,419 (GRCm39) probably null Het
Reck T A 4: 43,913,771 (GRCm39) probably null Het
Riox1 G T 12: 83,998,156 (GRCm39) D231Y probably damaging Het
Rlf T A 4: 121,005,617 (GRCm39) N1231I probably damaging Het
Rpn1 A G 6: 88,072,530 (GRCm39) D291G possibly damaging Het
Samsn1 C T 16: 75,742,461 (GRCm39) noncoding transcript Het
Scara5 T C 14: 65,927,249 (GRCm39) C49R possibly damaging Het
Serpini1 A G 3: 75,521,785 (GRCm39) D92G probably benign Het
Setdb2 A T 14: 59,656,858 (GRCm39) L153Q probably damaging Het
Sh3rf3 C T 10: 58,649,809 (GRCm39) T138M probably benign Het
Shkbp1 C T 7: 27,054,825 (GRCm39) probably null Het
Slc22a29 G A 19: 8,195,707 (GRCm39) P111S probably benign Het
Smarca1 A G X: 46,941,564 (GRCm39) V618A probably damaging Het
Spef2 T A 15: 9,609,602 (GRCm39) M1308L probably damaging Het
Spink5 A G 18: 44,123,775 (GRCm39) N354S probably benign Het
Srrm2 T C 17: 24,040,465 (GRCm39) S2370P probably damaging Het
Ssxb3 A T X: 8,454,905 (GRCm39) I28N probably damaging Het
Sucla2 A G 14: 73,831,119 (GRCm39) T411A probably damaging Het
Tex38 A C 4: 115,637,537 (GRCm39) S89A probably benign Het
Tjp2 A T 19: 24,088,437 (GRCm39) D723E probably damaging Het
Tln2 A T 9: 67,163,183 (GRCm39) N1121K probably damaging Het
Tti1 T C 2: 157,850,966 (GRCm39) E91G possibly damaging Het
Wbp2 A T 11: 115,973,191 (GRCm39) M72K possibly damaging Het
Wdfy4 C A 14: 32,828,001 (GRCm39) C1062F possibly damaging Het
Wiz A G 17: 32,578,346 (GRCm39) Y389H probably damaging Het
Zcchc3 T C 2: 152,256,012 (GRCm39) K229R probably damaging Het
Zmat3 C A 3: 32,415,131 (GRCm39) D60Y probably damaging Het
Other mutations in Nckap5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:Nckap5 APN 1 125,954,889 (GRCm39) missense probably damaging 0.99
IGL00956:Nckap5 APN 1 125,952,755 (GRCm39) missense probably damaging 0.98
IGL01414:Nckap5 APN 1 126,456,450 (GRCm39) missense probably damaging 1.00
IGL01482:Nckap5 APN 1 125,950,897 (GRCm39) missense probably damaging 1.00
IGL01508:Nckap5 APN 1 125,953,309 (GRCm39) missense probably damaging 0.96
IGL02071:Nckap5 APN 1 125,909,305 (GRCm39) missense probably damaging 0.97
IGL02129:Nckap5 APN 1 125,955,432 (GRCm39) nonsense probably null
IGL02821:Nckap5 APN 1 125,955,553 (GRCm39) missense probably damaging 1.00
IGL03174:Nckap5 APN 1 125,909,383 (GRCm39) missense probably damaging 1.00
F5493:Nckap5 UTSW 1 125,953,564 (GRCm39) missense probably benign
G5030:Nckap5 UTSW 1 125,953,591 (GRCm39) missense probably damaging 0.96
R0033:Nckap5 UTSW 1 125,867,979 (GRCm39) intron probably benign
R0164:Nckap5 UTSW 1 125,952,144 (GRCm39) missense possibly damaging 0.84
R0164:Nckap5 UTSW 1 125,952,144 (GRCm39) missense possibly damaging 0.84
R0349:Nckap5 UTSW 1 125,954,171 (GRCm39) missense probably benign
R0482:Nckap5 UTSW 1 125,954,102 (GRCm39) missense possibly damaging 0.92
R0508:Nckap5 UTSW 1 125,909,121 (GRCm39) splice site probably null
R0541:Nckap5 UTSW 1 126,623,459 (GRCm39) missense possibly damaging 0.82
R0609:Nckap5 UTSW 1 125,955,025 (GRCm39) nonsense probably null
R0701:Nckap5 UTSW 1 125,953,094 (GRCm39) missense probably benign 0.06
R0782:Nckap5 UTSW 1 125,909,278 (GRCm39) missense probably damaging 1.00
R1389:Nckap5 UTSW 1 125,954,447 (GRCm39) missense probably damaging 0.99
R1401:Nckap5 UTSW 1 125,942,398 (GRCm39) splice site probably benign
R1436:Nckap5 UTSW 1 125,953,798 (GRCm39) missense possibly damaging 0.96
R1506:Nckap5 UTSW 1 125,953,650 (GRCm39) nonsense probably null
R1528:Nckap5 UTSW 1 125,952,659 (GRCm39) missense possibly damaging 0.68
R1942:Nckap5 UTSW 1 125,952,039 (GRCm39) missense probably damaging 1.00
R2055:Nckap5 UTSW 1 125,954,635 (GRCm39) missense probably damaging 1.00
R2105:Nckap5 UTSW 1 125,954,255 (GRCm39) missense probably damaging 1.00
R2214:Nckap5 UTSW 1 125,953,487 (GRCm39) missense possibly damaging 0.77
R2311:Nckap5 UTSW 1 126,456,489 (GRCm39) missense probably damaging 1.00
R2403:Nckap5 UTSW 1 125,955,146 (GRCm39) missense probably benign 0.18
R2430:Nckap5 UTSW 1 125,842,494 (GRCm39) missense probably damaging 0.99
R2914:Nckap5 UTSW 1 125,954,274 (GRCm39) splice site probably null
R3782:Nckap5 UTSW 1 125,952,811 (GRCm39) missense possibly damaging 0.93
R4133:Nckap5 UTSW 1 126,150,443 (GRCm39) missense probably benign 0.13
R4249:Nckap5 UTSW 1 125,955,376 (GRCm39) missense probably benign 0.01
R4448:Nckap5 UTSW 1 125,953,463 (GRCm39) nonsense probably null
R4456:Nckap5 UTSW 1 125,842,472 (GRCm39) unclassified probably benign
R4682:Nckap5 UTSW 1 126,030,279 (GRCm39) critical splice donor site probably null
R4817:Nckap5 UTSW 1 125,954,952 (GRCm39) missense possibly damaging 0.68
R4907:Nckap5 UTSW 1 125,953,889 (GRCm39) missense possibly damaging 0.92
R4908:Nckap5 UTSW 1 125,955,324 (GRCm39) missense probably damaging 1.00
R4924:Nckap5 UTSW 1 125,954,765 (GRCm39) nonsense probably null
R4926:Nckap5 UTSW 1 126,456,378 (GRCm39) intron probably benign
R5032:Nckap5 UTSW 1 125,904,786 (GRCm39) missense possibly damaging 0.62
R5133:Nckap5 UTSW 1 125,961,697 (GRCm39) missense probably benign 0.01
R5197:Nckap5 UTSW 1 126,150,410 (GRCm39) missense possibly damaging 0.79
R5238:Nckap5 UTSW 1 125,955,461 (GRCm39) missense probably damaging 0.96
R5257:Nckap5 UTSW 1 125,952,245 (GRCm39) missense probably damaging 0.99
R5277:Nckap5 UTSW 1 125,954,277 (GRCm39) nonsense probably null
R5512:Nckap5 UTSW 1 125,955,481 (GRCm39) missense possibly damaging 0.63
R5700:Nckap5 UTSW 1 125,904,662 (GRCm39) critical splice donor site probably null
R5789:Nckap5 UTSW 1 125,955,439 (GRCm39) missense probably damaging 1.00
R6029:Nckap5 UTSW 1 125,953,523 (GRCm39) missense possibly damaging 0.89
R6249:Nckap5 UTSW 1 125,952,667 (GRCm39) missense probably benign
R6292:Nckap5 UTSW 1 125,842,752 (GRCm39) missense probably damaging 0.99
R6521:Nckap5 UTSW 1 126,309,909 (GRCm39) missense probably damaging 1.00
R6875:Nckap5 UTSW 1 125,950,931 (GRCm39) missense probably benign 0.03
R7017:Nckap5 UTSW 1 126,030,398 (GRCm39) missense probably damaging 1.00
R7018:Nckap5 UTSW 1 125,952,785 (GRCm39) missense probably damaging 0.99
R7054:Nckap5 UTSW 1 126,186,449 (GRCm39) splice site probably null
R7204:Nckap5 UTSW 1 125,954,104 (GRCm39) missense probably benign
R7336:Nckap5 UTSW 1 125,953,786 (GRCm39) missense probably benign 0.00
R7544:Nckap5 UTSW 1 125,953,948 (GRCm39) missense possibly damaging 0.92
R7590:Nckap5 UTSW 1 125,954,270 (GRCm39) missense probably benign 0.00
R7684:Nckap5 UTSW 1 125,954,594 (GRCm39) missense probably benign 0.00
R7749:Nckap5 UTSW 1 125,952,383 (GRCm39) missense probably damaging 1.00
R7773:Nckap5 UTSW 1 125,954,581 (GRCm39) missense probably benign 0.00
R7813:Nckap5 UTSW 1 125,953,163 (GRCm39) missense probably benign 0.10
R7970:Nckap5 UTSW 1 125,952,758 (GRCm39) nonsense probably null
R7992:Nckap5 UTSW 1 125,954,547 (GRCm39) missense probably damaging 0.99
R8278:Nckap5 UTSW 1 125,955,509 (GRCm39) missense probably damaging 1.00
R8373:Nckap5 UTSW 1 125,954,032 (GRCm39) missense probably benign 0.02
R8414:Nckap5 UTSW 1 125,942,357 (GRCm39) missense probably damaging 1.00
R8755:Nckap5 UTSW 1 125,954,279 (GRCm39) missense possibly damaging 0.89
R8845:Nckap5 UTSW 1 125,909,423 (GRCm39) missense possibly damaging 0.80
R9016:Nckap5 UTSW 1 126,623,491 (GRCm39) start codon destroyed probably null 0.01
R9209:Nckap5 UTSW 1 125,867,928 (GRCm39) missense unknown
R9214:Nckap5 UTSW 1 125,942,376 (GRCm39) missense probably benign 0.01
R9300:Nckap5 UTSW 1 125,909,423 (GRCm39) nonsense probably null
R9464:Nckap5 UTSW 1 125,952,494 (GRCm39) missense probably benign 0.00
R9572:Nckap5 UTSW 1 125,955,454 (GRCm39) missense probably benign 0.41
R9721:Nckap5 UTSW 1 125,955,017 (GRCm39) missense probably damaging 0.98
R9748:Nckap5 UTSW 1 125,953,939 (GRCm39) missense probably damaging 1.00
Z1088:Nckap5 UTSW 1 125,952,569 (GRCm39) missense possibly damaging 0.76
Z1176:Nckap5 UTSW 1 126,456,418 (GRCm39) critical splice donor site probably null
Z1177:Nckap5 UTSW 1 126,150,396 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ATTCCACCTCATGTCCACAG -3'
(R):5'- TGTAATTCTGGAAATGGGCTCTC -3'

Sequencing Primer
(F):5'- ATTCCTGAAAGGGTTTCGACC -3'
(R):5'- GGAAATGGGCTCTCTTAATTAAAACC -3'
Posted On 2014-08-25