Incidental Mutation 'IGL01333:Nktr'
ID 74550
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nktr
Ensembl Gene ENSMUSG00000032525
Gene Name natural killer tumor recognition sequence
Synonyms D9Wsu172e, 5330401F18Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.620) question?
Stock # IGL01333
Quality Score
Status
Chromosome 9
Chromosomal Location 121548235-121585909 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121560630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 125 (I125V)
Ref Sequence ENSEMBL: ENSMUSP00000035112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035112] [ENSMUST00000182179] [ENSMUST00000182225] [ENSMUST00000182311] [ENSMUST00000182337] [ENSMUST00000182763] [ENSMUST00000183070]
AlphaFold P30415
Predicted Effect possibly damaging
Transcript: ENSMUST00000035112
AA Change: I125V

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525
AA Change: I125V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 10 175 1.7e-48 PFAM
low complexity region 195 229 N/A INTRINSIC
low complexity region 277 294 N/A INTRINSIC
low complexity region 346 360 N/A INTRINSIC
low complexity region 427 459 N/A INTRINSIC
low complexity region 477 503 N/A INTRINSIC
low complexity region 509 565 N/A INTRINSIC
low complexity region 677 726 N/A INTRINSIC
low complexity region 736 749 N/A INTRINSIC
low complexity region 797 812 N/A INTRINSIC
low complexity region 900 914 N/A INTRINSIC
low complexity region 921 929 N/A INTRINSIC
low complexity region 948 958 N/A INTRINSIC
low complexity region 983 1003 N/A INTRINSIC
low complexity region 1189 1200 N/A INTRINSIC
low complexity region 1229 1236 N/A INTRINSIC
low complexity region 1316 1453 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182086
Predicted Effect probably benign
Transcript: ENSMUST00000182179
SMART Domains Protein: ENSMUSP00000138437
Gene: ENSMUSG00000032525

DomainStartEndE-ValueType
Pfam:Pro_isomerase 10 103 1.9e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182225
AA Change: I125V

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000138168
Gene: ENSMUSG00000032525
AA Change: I125V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 10 175 2.1e-47 PFAM
low complexity region 184 215 N/A INTRINSIC
low complexity region 252 269 N/A INTRINSIC
low complexity region 321 335 N/A INTRINSIC
low complexity region 402 434 N/A INTRINSIC
low complexity region 452 478 N/A INTRINSIC
low complexity region 484 540 N/A INTRINSIC
low complexity region 652 701 N/A INTRINSIC
low complexity region 711 724 N/A INTRINSIC
low complexity region 772 787 N/A INTRINSIC
low complexity region 875 889 N/A INTRINSIC
low complexity region 896 904 N/A INTRINSIC
low complexity region 923 933 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000182311
AA Change: I89V

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000138690
Gene: ENSMUSG00000032525
AA Change: I89V

DomainStartEndE-ValueType
Pfam:Pro_isomerase 10 54 2.9e-8 PFAM
Pfam:Pro_isomerase 44 99 7.1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182337
SMART Domains Protein: ENSMUSP00000138164
Gene: ENSMUSG00000032525

DomainStartEndE-ValueType
Pfam:Pro_isomerase 7 101 1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182763
SMART Domains Protein: ENSMUSP00000138272
Gene: ENSMUSG00000032525

DomainStartEndE-ValueType
Pfam:Pro_isomerase 10 68 3.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183070
SMART Domains Protein: ENSMUSP00000138611
Gene: ENSMUSG00000032525

DomainStartEndE-ValueType
Pfam:Pro_isomerase 10 103 1.9e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182904
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182395
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-anchored protein with a hydrophobic amino terminal domain and a cyclophilin-like PPIase domain. It is present on the surface of natural killer cells and facilitates their binding to targets. Its expression is regulated by IL2 activation of the cells. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 G T 7: 119,981,531 (GRCm39) C995F probably damaging Het
Adamts7 G T 9: 90,069,032 (GRCm39) G525C probably damaging Het
Akap1 T C 11: 88,736,431 (GRCm39) E110G probably damaging Het
Ankrd7 A G 6: 18,879,345 (GRCm39) H263R probably damaging Het
Cav3 T C 6: 112,436,888 (GRCm39) probably null Het
Ccdc66 T C 14: 27,215,272 (GRCm39) R423G possibly damaging Het
Cep76 C T 18: 67,773,187 (GRCm39) R37Q probably benign Het
Chfr A G 5: 110,291,439 (GRCm39) K86E possibly damaging Het
Eif2b3 T A 4: 116,927,887 (GRCm39) S369T probably benign Het
Hgf A T 5: 16,781,939 (GRCm39) R221* probably null Het
Hspg2 T C 4: 137,267,625 (GRCm39) Y2078H probably damaging Het
Kif22 A C 7: 126,633,367 (GRCm39) V55G probably damaging Het
Mme T C 3: 63,253,512 (GRCm39) I452T probably damaging Het
Mrpl41 T C 2: 24,864,453 (GRCm39) N73S probably benign Het
Mup6 T C 4: 60,005,529 (GRCm39) F112S probably damaging Het
Nup205 T C 6: 35,217,998 (GRCm39) F1784L probably benign Het
Nwd1 A G 8: 73,393,439 (GRCm39) D275G possibly damaging Het
Or4d11 G A 19: 12,013,305 (GRCm39) T267I probably benign Het
Or5h19 T C 16: 58,856,269 (GRCm39) Y277C probably damaging Het
Pde6c G A 19: 38,164,143 (GRCm39) E666K probably benign Het
Pth2r A T 1: 65,427,884 (GRCm39) D519V probably benign Het
Reln A T 5: 22,376,249 (GRCm39) I169N probably damaging Het
Shoc1 T C 4: 59,047,870 (GRCm39) N1250D possibly damaging Het
Slc25a13 A G 6: 6,042,739 (GRCm39) probably null Het
Smg1 A G 7: 117,762,601 (GRCm39) probably benign Het
Sp1 A G 15: 102,339,364 (GRCm39) E434G probably damaging Het
Stt3b A T 9: 115,086,612 (GRCm39) Y336N probably damaging Het
Vmn2r104 T A 17: 20,263,055 (GRCm39) R135S probably benign Het
Zfhx4 C T 3: 5,464,387 (GRCm39) T1515I probably damaging Het
Zfp280d A G 9: 72,242,396 (GRCm39) probably benign Het
Other mutations in Nktr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01402:Nktr APN 9 121,570,218 (GRCm39) splice site probably null
IGL01404:Nktr APN 9 121,570,218 (GRCm39) splice site probably null
IGL02945:Nktr APN 9 121,557,697 (GRCm39) missense probably damaging 1.00
IGL03334:Nktr APN 9 121,577,242 (GRCm39) missense probably benign 0.18
IGL03134:Nktr UTSW 9 121,575,532 (GRCm39) missense probably damaging 1.00
PIT4131001:Nktr UTSW 9 121,570,687 (GRCm39) missense probably damaging 1.00
R0010:Nktr UTSW 9 121,570,232 (GRCm39) splice site probably benign
R0158:Nktr UTSW 9 121,579,757 (GRCm39) unclassified probably benign
R0399:Nktr UTSW 9 121,560,550 (GRCm39) missense probably damaging 0.98
R0503:Nktr UTSW 9 121,579,806 (GRCm39) unclassified probably benign
R0585:Nktr UTSW 9 121,583,346 (GRCm39) utr 3 prime probably benign
R0606:Nktr UTSW 9 121,578,356 (GRCm39) unclassified probably benign
R1248:Nktr UTSW 9 121,556,436 (GRCm39) missense probably damaging 1.00
R1899:Nktr UTSW 9 121,577,932 (GRCm39) unclassified probably benign
R1912:Nktr UTSW 9 121,579,306 (GRCm39) unclassified probably benign
R2049:Nktr UTSW 9 121,570,760 (GRCm39) missense probably damaging 1.00
R2279:Nktr UTSW 9 121,560,603 (GRCm39) missense possibly damaging 0.93
R2912:Nktr UTSW 9 121,578,670 (GRCm39) unclassified probably benign
R2913:Nktr UTSW 9 121,578,670 (GRCm39) unclassified probably benign
R2914:Nktr UTSW 9 121,578,670 (GRCm39) unclassified probably benign
R3939:Nktr UTSW 9 121,578,135 (GRCm39) unclassified probably benign
R4080:Nktr UTSW 9 121,570,192 (GRCm39) missense probably damaging 1.00
R4471:Nktr UTSW 9 121,577,962 (GRCm39) unclassified probably benign
R4472:Nktr UTSW 9 121,577,962 (GRCm39) unclassified probably benign
R4506:Nktr UTSW 9 121,577,949 (GRCm39) unclassified probably benign
R4556:Nktr UTSW 9 121,570,189 (GRCm39) missense probably damaging 0.98
R4736:Nktr UTSW 9 121,578,805 (GRCm39) unclassified probably benign
R4749:Nktr UTSW 9 121,570,759 (GRCm39) missense probably damaging 1.00
R4943:Nktr UTSW 9 121,549,020 (GRCm39) intron probably benign
R5084:Nktr UTSW 9 121,577,176 (GRCm39) missense possibly damaging 0.86
R5250:Nktr UTSW 9 121,578,858 (GRCm39) unclassified probably benign
R5288:Nktr UTSW 9 121,577,659 (GRCm39) missense probably benign 0.23
R5324:Nktr UTSW 9 121,556,412 (GRCm39) missense probably damaging 1.00
R5330:Nktr UTSW 9 121,581,834 (GRCm39) intron probably benign
R5331:Nktr UTSW 9 121,581,834 (GRCm39) intron probably benign
R5502:Nktr UTSW 9 121,577,672 (GRCm39) unclassified probably benign
R5587:Nktr UTSW 9 121,577,555 (GRCm39) unclassified probably benign
R5664:Nktr UTSW 9 121,578,483 (GRCm39) nonsense probably null
R6005:Nktr UTSW 9 121,577,460 (GRCm39) unclassified probably benign
R6057:Nktr UTSW 9 121,577,455 (GRCm39) unclassified probably benign
R6083:Nktr UTSW 9 121,579,202 (GRCm39) unclassified probably benign
R6274:Nktr UTSW 9 121,560,631 (GRCm39) missense probably damaging 1.00
R6445:Nktr UTSW 9 121,577,480 (GRCm39) unclassified probably benign
R6467:Nktr UTSW 9 121,560,585 (GRCm39) missense probably damaging 1.00
R6911:Nktr UTSW 9 121,583,392 (GRCm39) nonsense probably null
R6960:Nktr UTSW 9 121,571,758 (GRCm39) missense probably damaging 0.99
R7226:Nktr UTSW 9 121,575,599 (GRCm39) missense probably damaging 0.99
R7324:Nktr UTSW 9 121,577,357 (GRCm39) missense possibly damaging 0.66
R7324:Nktr UTSW 9 121,556,427 (GRCm39) missense probably damaging 1.00
R7451:Nktr UTSW 9 121,558,722 (GRCm39) missense probably damaging 0.99
R7464:Nktr UTSW 9 121,579,393 (GRCm39) missense unknown
R7537:Nktr UTSW 9 121,578,345 (GRCm39) missense unknown
R8126:Nktr UTSW 9 121,575,514 (GRCm39) missense probably damaging 1.00
R8163:Nktr UTSW 9 121,579,929 (GRCm39) unclassified probably benign
R8812:Nktr UTSW 9 121,579,317 (GRCm39) missense unknown
R8829:Nktr UTSW 9 121,583,330 (GRCm39) missense unknown
R8945:Nktr UTSW 9 121,575,558 (GRCm39) missense possibly damaging 0.70
R9158:Nktr UTSW 9 121,582,154 (GRCm39) missense unknown
R9252:Nktr UTSW 9 121,579,415 (GRCm39) missense unknown
R9378:Nktr UTSW 9 121,577,264 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07