Incidental Mutation 'PIT4131001:Nktr'
ID 523229
Institutional Source Beutler Lab
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 # PIT4131001 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 121548235-121585909 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121570687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 143 (V143E)
Ref Sequence ENSEMBL: ENSMUSP00000138168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035112] [ENSMUST00000182179] [ENSMUST00000182225] [ENSMUST00000182311] [ENSMUST00000182763] [ENSMUST00000183070]
AlphaFold P30415
Predicted Effect probably damaging
Transcript: ENSMUST00000035112
AA Change: V143E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525
AA Change: V143E

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 damaging
Transcript: ENSMUST00000182225
AA Change: V143E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138168
Gene: ENSMUSG00000032525
AA Change: V143E

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
SMART Domains Protein: ENSMUSP00000138690
Gene: ENSMUSG00000032525

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: 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: ENSMUST00000216573
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182904
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 92% (126/137)
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: 129 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010B08Rik C T 2: 173,561,599 (GRCm39) probably benign Het
Alpk2 G A 18: 65,439,450 (GRCm39) H648Y possibly damaging Het
Ambp A G 4: 63,062,502 (GRCm39) Y246H probably damaging Het
Amz1 T C 5: 140,735,088 (GRCm39) probably null Het
Anks6 G A 4: 47,027,109 (GRCm39) T703I probably damaging Het
Armc2 A G 10: 41,823,883 (GRCm39) probably benign Het
Atp7b T A 8: 22,484,672 (GRCm39) I1347F probably damaging Het
Atp8a1 C T 5: 67,779,945 (GRCm39) W1149* probably null Het
Auh A G 13: 52,995,046 (GRCm39) I173T probably damaging Het
Axin2 T C 11: 108,814,829 (GRCm39) L239P possibly damaging Het
Bbs1 A T 19: 4,949,287 (GRCm39) F257L possibly damaging Het
Cacna2d2 C T 9: 107,401,867 (GRCm39) P774L probably damaging Het
Card6 A G 15: 5,137,788 (GRCm39) L22P probably damaging Het
Ccdc171 C T 4: 83,579,946 (GRCm39) Het
Ccn2 T C 10: 24,471,988 (GRCm39) V70A probably damaging Het
Cdc14a T A 3: 116,122,310 (GRCm39) N219I possibly damaging Het
Cfap65 G T 1: 74,967,501 (GRCm39) N192K probably benign Het
Col14a1 T C 15: 55,312,272 (GRCm39) probably benign Het
Col5a1 A G 2: 27,914,665 (GRCm39) T94A probably benign Het
Col6a5 T C 9: 105,759,113 (GRCm39) N2031S probably damaging Het
Col7a1 T C 9: 108,794,989 (GRCm39) probably benign Het
Cyld T C 8: 89,473,543 (GRCm39) S739P probably damaging Het
Dbr1 A G 9: 99,466,072 (GRCm39) probably null Het
Dip2b T C 15: 100,100,233 (GRCm39) L1267P probably damaging Het
Dolk A G 2: 30,175,586 (GRCm39) M153T probably benign Het
Duxf1 C T 10: 58,060,704 (GRCm39) E17K possibly damaging Het
Duxf1 G A 10: 58,060,136 (GRCm39) probably benign Het
Duxf1 A G 10: 58,059,276 (GRCm39) C493R probably benign Het
Duxf3 A C 10: 58,067,498 (GRCm39) S27A probably benign Het
Eef1d C T 15: 75,775,581 (GRCm39) R26H probably benign Homo
Efcab5 C T 11: 77,028,517 (GRCm39) Het
Epc1 T C 18: 6,449,246 (GRCm39) D467G probably damaging Het
Fancm T G 12: 65,152,196 (GRCm39) M884R probably benign Het
Fbxo24 G T 5: 137,620,164 (GRCm39) H15N probably damaging Het
Frem1 A G 4: 82,924,045 (GRCm39) F305L probably damaging Het
Fstl5 A G 3: 76,567,006 (GRCm39) D550G probably damaging Het
Gcnt3 T G 9: 69,941,326 (GRCm39) K414T possibly damaging Het
Gm10718 A T 9: 3,024,417 (GRCm39) T134S probably benign Het
Gm10722 A G,C 9: 3,001,414 (GRCm39) probably benign Het
Gm10800 T C 2: 98,497,163 (GRCm39) R152G probably benign Homo
Gm10800 C A 2: 98,497,250 (GRCm39) V123F probably benign Homo
Gm10800 A C 2: 98,496,893 (GRCm39) F220C probably benign Het
Gm10801 A G 2: 98,492,648 (GRCm39) R23G probably benign Homo
Gm11168 C T 9: 3,004,605 (GRCm39) P49S probably benign Het
Gm21738 G A 14: 19,417,330 (GRCm38) S66L probably benign Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTG T 1: 88,194,000 (GRCm39) probably benign Het
Hmgcr A G 13: 96,795,562 (GRCm39) Y336H probably damaging Het
Hoxa13 G C 6: 52,260,648 (GRCm38) probably benign Homo
Hoxa13 C G 6: 52,260,647 (GRCm38) probably benign Homo
Igf2bp3 A C 6: 49,094,084 (GRCm39) probably null Het
Kcnb2 A T 1: 15,383,200 (GRCm39) K175N possibly damaging Het
Kdr T C 5: 76,102,631 (GRCm39) probably benign Het
Kif5c A G 2: 49,584,044 (GRCm39) K160E probably damaging Het
Kif7 A T 7: 79,360,817 (GRCm39) V186E probably damaging Het
Krt16 T A 11: 100,139,575 (GRCm39) T48S unknown Het
Liph T C 16: 21,814,119 (GRCm39) M1V probably null Het
Mctp2 A G 7: 71,740,005 (GRCm39) F795S probably damaging Het
Muc4 T A 16: 32,755,699 (GRCm38) probably benign Homo
Muc4 C G 16: 32,755,676 (GRCm38) probably benign Homo
Muc4 T A 16: 32,755,684 (GRCm38) probably benign Homo
Myo15a G T 11: 60,373,953 (GRCm39) A1267S probably damaging Het
Myo15a T C 11: 60,386,280 (GRCm39) Y1802H probably damaging Het
Myo7b G A 18: 32,094,259 (GRCm39) T1963I probably benign Het
Nadk2 TG T 15: 9,100,232 (GRCm39) probably null Homo
Naip5 T C 13: 100,356,268 (GRCm39) N1116D probably benign Het
Naip5 T C 13: 100,356,247 (GRCm39) R1123G probably benign Het
Nap1l1 A G 10: 111,322,583 (GRCm39) D61G probably null Het
Napsa A T 7: 44,230,875 (GRCm39) T81S probably damaging Het
Ngp T C 9: 110,251,337 (GRCm39) probably benign Het
Obscn A G 11: 58,957,890 (GRCm39) probably null Het
Or10ag53 G A 2: 87,082,973 (GRCm39) A231T probably benign Het
Or11i1 T C 3: 106,729,282 (GRCm39) I198V probably benign Het
Or4f56 G A 2: 111,703,649 (GRCm39) L184F probably benign Het
Or52ab2 C T 7: 102,970,076 (GRCm39) R153* probably null Het
Or52d3 G A 7: 104,229,237 (GRCm39) R128Q probably damaging Het
Or6p1 A G 1: 174,258,390 (GRCm39) Y132C probably damaging Het
Paip2b A G 6: 83,785,823 (GRCm39) Y136H probably damaging Het
Pde2a G T 7: 101,160,361 (GRCm39) R845L probably damaging Het
Pgap2 A G 7: 101,886,405 (GRCm39) Y197C possibly damaging Het
Phf11b A G 14: 59,560,611 (GRCm39) probably benign Het
Pitpnm2 A T 5: 124,269,178 (GRCm39) D481E probably benign Het
Pxk A T 14: 8,152,130 (GRCm38) H482L probably benign Het
Rad50 A G 11: 53,585,726 (GRCm39) probably null Het
Rbmyf1 T A Y: 2,787,132 (GRCm39) N228Y probably benign Het
Rbmyf5 T C Y: 3,297,411 (GRCm39) H235R probably benign Het
Rbmyf6 C T Y: 3,328,944 (GRCm39) A241T possibly damaging Het
Rnf220 A G 4: 117,134,566 (GRCm39) probably null Het
Saxo5 T A 8: 3,526,062 (GRCm39) S72T possibly damaging Het
Selenbp1 C T 3: 94,844,607 (GRCm39) T88M probably damaging Het
Sft2d1 T C 17: 8,609,863 (GRCm39) I104T possibly damaging Het
Sik1 A G 17: 32,070,305 (GRCm39) S135P probably damaging Het
Slc16a3 T C 11: 120,846,172 (GRCm39) F34L probably damaging Het
Slc6a20b T C 9: 123,612,126 (GRCm38) N85S probably benign Homo
Snrnp27 T C 6: 86,659,893 (GRCm39) R34G unknown Het
Sos2 T C 12: 69,664,851 (GRCm39) H393R probably benign Het
Sp110 C T 1: 85,513,971 (GRCm39) R262Q probably benign Het
Sp110 T C 1: 85,513,975 (GRCm39) R261G probably benign Het
Sp140 T A 1: 85,528,893 (GRCm39) Y5N probably benign Het
Sp140 A G 1: 85,570,942 (GRCm39) S461G probably benign Het
Sp140 G C 1: 85,538,603 (GRCm39) K113N probably benign Het
Sp140l1 G A 1: 85,077,341 (GRCm39) A75V probably benign Het
Sp140l2 A C 1: 85,223,395 (GRCm39) probably benign Het
Speer4a2 A T 5: 26,291,485 (GRCm39) F107Y probably benign Het
Speer4a2 C G 5: 26,294,093 (GRCm39) W28C probably damaging Het
Ssrp1 G A 2: 84,868,760 (GRCm39) V40M probably damaging Het
Tada2a T C 11: 83,970,563 (GRCm39) E202G probably damaging Het
Tcf20 C A 15: 82,735,785 (GRCm39) A1889S probably damaging Het
Tdrd12 A T 7: 35,180,528 (GRCm39) Y828* probably null Het
Tlr2 T A 3: 83,745,756 (GRCm39) D109V probably benign Het
Tomm40 G A 7: 19,437,016 (GRCm39) T17M probably damaging Het
Tsga10ip T C 19: 5,440,161 (GRCm39) T135A possibly damaging Het
Tspan8 G A 10: 115,653,515 (GRCm39) V4M probably damaging Het
Ttc28 A T 5: 111,040,719 (GRCm39) T36S probably benign Het
Ugt1a6b G A 1: 88,146,112 (GRCm39) R519Q probably damaging Het
Ugt1a6b TTCA T 1: 88,143,880 (GRCm39) probably benign Het
Ugt1a6b G A 1: 88,143,976 (GRCm39) A199T probably damaging Het
Unc45a A G 7: 79,976,109 (GRCm39) M790T possibly damaging Het
Vav3 T C 3: 109,571,751 (GRCm39) probably null Het
Vcpkmt G A 12: 69,629,552 (GRCm39) S70L probably benign Het
Vmn1r3 C T 4: 3,184,691 (GRCm39) M205I probably damaging Het
Vmn1r3 C T 4: 3,184,774 (GRCm39) V178I probably benign Het
Vmn2r66 T C 7: 84,644,301 (GRCm39) Q703R probably damaging Het
Vmn2r98 G T 17: 19,301,223 (GRCm39) V742F probably benign Het
Wfdc8 A G 2: 164,439,696 (GRCm39) S229P possibly damaging Het
Xpo4 A T 14: 57,822,068 (GRCm39) C1083S probably null Het
Zbtb38 T C 9: 96,568,369 (GRCm39) D905G probably damaging Het
Zbtb8b A G 4: 129,321,308 (GRCm39) *518Q probably null Het
Zfp600 TC T 4: 146,131,802 (GRCm39) probably null Het
Zfp992 C T 4: 146,550,569 (GRCm39) P97S probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CGTCCCACCTTGTCTTGAGA -3'
(R):5'- CATCTGCTGGTGGAGAGGAT -3'

Sequencing Primer
(F):5'- GAGATGAGCTGTCACTACTTCCTG -3'
(R):5'- TGCAGCACAGCACAGAG -3'
Posted On 2018-06-12