Incidental Mutation 'IGL03334:Nktr'
ID 416968
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 # IGL03334
Quality Score
Status
Chromosome 9
Chromosomal Location 121548235-121585909 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121577242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 412 (F412L)
Ref Sequence ENSEMBL: ENSMUSP00000138168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035112] [ENSMUST00000182179] [ENSMUST00000182225] [ENSMUST00000182503]
AlphaFold P30415
Predicted Effect probably benign
Transcript: ENSMUST00000035112
AA Change: F437L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525
AA Change: F437L

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: ENSMUST00000182076
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: F412L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000138168
Gene: ENSMUSG00000032525
AA Change: F412L

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: ENSMUST00000182503
SMART Domains Protein: ENSMUSP00000138463
Gene: ENSMUSG00000032525

DomainStartEndE-ValueType
low complexity region 10 85 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182607
Predicted Effect probably benign
Transcript: ENSMUST00000182713
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213351
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,838,302 (GRCm39) F762L probably benign Het
Angpt1 T A 15: 42,359,808 (GRCm39) E208V possibly damaging Het
Arhgef18 A T 8: 3,438,023 (GRCm39) I286F probably benign Het
Arhgef5 T C 6: 43,250,934 (GRCm39) S562P possibly damaging Het
Asb6 T C 2: 30,714,496 (GRCm39) T205A probably benign Het
B4galnt4 G A 7: 140,647,354 (GRCm39) probably null Het
Clca4a A T 3: 144,659,627 (GRCm39) M743K probably benign Het
Col14a1 T C 15: 55,312,217 (GRCm39) probably benign Het
Col27a1 A T 4: 63,232,959 (GRCm39) Y359F probably damaging Het
Dhcr7 T A 7: 143,394,234 (GRCm39) V125D possibly damaging Het
Ercc3 T C 18: 32,373,890 (GRCm39) probably null Het
Fnbp1l A G 3: 122,351,598 (GRCm39) V315A probably benign Het
Gm17174 T A 14: 51,829,420 (GRCm39) R48* probably null Het
Golga4 C T 9: 118,366,301 (GRCm39) probably benign Het
Grin1 C T 2: 25,188,405 (GRCm39) probably null Het
Ifi203 T A 1: 173,765,401 (GRCm39) K58* probably null Het
Ighv2-9-1 A G 12: 113,733,543 (GRCm39) S93P probably benign Het
Il27ra A G 8: 84,757,751 (GRCm39) V594A probably benign Het
Krr1 T G 10: 111,815,959 (GRCm39) S275R probably benign Het
Lars1 T C 18: 42,354,571 (GRCm39) D792G probably benign Het
Myo1f G A 17: 33,817,168 (GRCm39) R737H probably damaging Het
Nebl T A 2: 17,418,522 (GRCm39) H292L probably damaging Het
Nell1 C A 7: 49,712,359 (GRCm39) probably null Het
Nlrp3 T A 11: 59,439,842 (GRCm39) I473N probably damaging Het
Or1j10 T C 2: 36,267,063 (GRCm39) Y92H possibly damaging Het
Phf3 A G 1: 30,844,810 (GRCm39) V1383A probably damaging Het
Prss48 T C 3: 85,904,625 (GRCm39) E191G probably damaging Het
Psg25 T A 7: 18,263,699 (GRCm39) L41F probably benign Het
Sema3b A G 9: 107,481,276 (GRCm39) L78P probably damaging Het
Spen G T 4: 141,197,280 (GRCm39) N3496K probably damaging Het
Tbk1 A T 10: 121,420,104 (GRCm39) H28Q possibly damaging Het
Trpv3 T A 11: 73,172,491 (GRCm39) probably benign Het
Vmn1r218 T C 13: 23,320,788 (GRCm39) L45P probably damaging Het
Vmn2r35 T A 7: 7,789,493 (GRCm39) Y748F probably damaging Het
Vps18 C T 2: 119,127,963 (GRCm39) R929W probably damaging Het
Xpnpep1 T C 19: 52,998,577 (GRCm39) K224E probably damaging Het
Zbed5 T A 5: 129,931,196 (GRCm39) F382I possibly damaging Het
Other mutations in Nktr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01333:Nktr APN 9 121,560,630 (GRCm39) missense possibly damaging 0.94
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
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 2016-08-02