Incidental Mutation 'R9214:Nckap5'
ID 699037
Institutional Source Beutler Lab
Gene Symbol Nckap5
Ensembl Gene ENSMUSG00000049690
Gene Name NCK-associated protein 5
Synonyms LOC380609, D130011D22Rik, E030049G20Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9214 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 125841373-126758529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 125942376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 1576 (V1576G)
Ref Sequence ENSEMBL: ENSMUSP00000125624 (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: V1512G

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000062229
Gene: ENSMUSG00000049690
AA Change: V1512G

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 possibly damaging
Transcript: ENSMUST00000094609
AA Change: V274G

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000092192
Gene: ENSMUSG00000049690
AA Change: V274G

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: V12G

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000092193
Gene: ENSMUSG00000049690
AA Change: V12G

DomainStartEndE-ValueType
Pfam:NCKAP5 1 101 8.8e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112583
AA Change: V1644G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000108202
Gene: ENSMUSG00000049690
AA Change: V1644G

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 probably benign
Transcript: ENSMUST00000161954
AA Change: V1576G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000125624
Gene: ENSMUSG00000049690
AA Change: V1576G

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 possibly damaging
Transcript: ENSMUST00000162877
AA Change: V206G

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000124748
Gene: ENSMUSG00000049690
AA Change: V206G

DomainStartEndE-ValueType
Pfam:NCKAP5 9 296 6e-36 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (64/64)
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T C 9: 55,890,653 (GRCm39) D352G probably benign Het
Abi1 A T 2: 22,831,989 (GRCm39) Y447* probably null Het
Acot1 A G 12: 84,064,189 (GRCm39) Y124C Het
Adgrf4 T C 17: 42,978,704 (GRCm39) N213S possibly damaging Het
Alg9 T A 9: 50,717,545 (GRCm39) Y443N probably damaging Het
Bhlhe22 A G 3: 18,109,024 (GRCm39) T25A probably benign Het
Bpifa1 C A 2: 153,985,789 (GRCm39) P35T unknown Het
Btbd16 T C 7: 130,381,437 (GRCm39) probably null Het
Ccdc187 G T 2: 26,183,409 (GRCm39) T197K probably benign Het
Cd209b A G 8: 3,968,771 (GRCm39) V295A probably benign Het
Cdcp3 C T 7: 130,824,481 (GRCm39) S192L possibly damaging Het
Clrn2 G T 5: 45,617,518 (GRCm39) A130S probably benign Het
Cnrip1 A G 11: 17,004,740 (GRCm39) T97A probably damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Col6a5 T C 9: 105,758,940 (GRCm39) T2089A possibly damaging Het
Cyfip1 T A 7: 55,523,273 (GRCm39) probably null Het
Ddx1 A G 12: 13,286,119 (GRCm39) S278P probably benign Het
Dnah12 A C 14: 26,445,060 (GRCm39) E654D probably benign Het
Efcab7 T C 4: 99,735,437 (GRCm39) S154P probably damaging Het
Emcn T C 3: 137,047,029 (GRCm39) F10S probably damaging Het
Fhip2a A G 19: 57,373,756 (GRCm39) H672R probably damaging Het
Flg2 G T 3: 93,110,884 (GRCm39) A971S unknown Het
Gli2 A T 1: 118,795,791 (GRCm39) H121Q probably damaging Het
Gm3633 A G 14: 42,460,359 (GRCm39) probably benign Het
Golga2 T C 2: 32,195,822 (GRCm39) L846P probably damaging Het
Golga7b A T 19: 42,255,440 (GRCm39) I106F probably damaging Het
Hltf T C 3: 20,140,280 (GRCm39) S460P probably benign Het
Hyal5 A G 6: 24,876,403 (GRCm39) Y92C probably damaging Het
Kif19b G A 5: 140,468,257 (GRCm39) R649Q probably benign Het
Mapk1 T A 16: 16,853,549 (GRCm39) C84S probably benign Het
Marchf10 A G 11: 105,281,100 (GRCm39) V395A probably benign Het
Meltf A G 16: 31,697,763 (GRCm39) T7A probably benign Het
Mfhas1 T A 8: 36,057,730 (GRCm39) V735D probably damaging Het
Mia2 G T 12: 59,223,150 (GRCm39) R486L possibly damaging Het
Mmp20 T C 9: 7,628,327 (GRCm39) L25P probably benign Het
Mprip C T 11: 59,650,901 (GRCm39) T1535I possibly damaging Het
Mrpl9 T A 3: 94,355,126 (GRCm39) S233T possibly damaging Het
Muc21 T A 17: 35,931,838 (GRCm39) S783C unknown Het
Ntng1 T C 3: 109,841,921 (GRCm39) Y284C probably damaging Het
Numa1 T A 7: 101,650,139 (GRCm39) V1290D probably damaging Het
Or52l1 T G 7: 104,829,587 (GRCm39) Y326S probably benign Het
Pcdhgc4 A T 18: 37,950,264 (GRCm39) D560V probably damaging Het
Pla2g1b A G 5: 115,610,107 (GRCm39) K84E possibly damaging Het
Pramel16 T C 4: 143,675,750 (GRCm39) I359V probably benign Het
Prrt4 C T 6: 29,170,767 (GRCm39) A562T possibly damaging Het
Rab6a T C 7: 100,275,786 (GRCm39) F33S probably damaging Het
Rgs11 A G 17: 26,427,260 (GRCm39) Y397C probably damaging Het
Rnf43 A T 11: 87,622,111 (GRCm39) H277L probably benign Het
Ryr1 A G 7: 28,785,187 (GRCm39) S1842P possibly damaging Het
Slc25a34 C T 4: 141,350,641 (GRCm39) A123T probably damaging Het
Smoc2 A G 17: 14,556,839 (GRCm39) Y96C probably damaging Het
Sqle A G 15: 59,194,765 (GRCm39) E267G probably benign Het
Sspo G A 6: 48,440,869 (GRCm39) R1777H possibly damaging Het
Stx6 T A 1: 155,067,210 (GRCm39) N133K probably benign Het
Taf7l2 T C 10: 115,948,903 (GRCm39) T208A probably benign Het
Thoc5 A T 11: 4,864,303 (GRCm39) Q320L probably benign Het
Tmc4 G C 7: 3,670,497 (GRCm39) C531W probably damaging Het
Tmigd1 A G 11: 76,801,031 (GRCm39) T173A probably damaging Het
Tpp2 A C 1: 44,031,514 (GRCm39) M1111L probably benign Het
Ttc21a T C 9: 119,772,941 (GRCm39) V206A probably benign Het
Ulk1 A T 5: 110,936,663 (GRCm39) V758E possibly damaging Het
Vdr T A 15: 97,767,600 (GRCm39) H130L probably benign Het
Vps13b A G 15: 35,623,892 (GRCm39) T1270A probably damaging Het
Zc3h13 A G 14: 75,560,991 (GRCm39) D527G unknown Het
Zfp512 C T 5: 31,637,434 (GRCm39) R508W probably damaging Het
Zfp606 A G 7: 12,215,026 (GRCm39) T85A unknown 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
R1968:Nckap5 UTSW 1 125,942,367 (GRCm39) missense probably damaging 0.99
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
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 2022-02-07