Incidental Mutation 'R7324:Nktr'
ID 568751
Institutional Source Beutler Lab
Gene Symbol Nktr
Ensembl Gene ENSMUSG00000032525
Gene Name natural killer tumor recognition sequence
Synonyms D9Wsu172e, 5330401F18Rik
MMRRC Submission 045418-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.688) question?
Stock # R7324 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 121548235-121585909 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 121556427 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 35 (T35I)
Ref Sequence ENSEMBL: ENSMUSP00000035112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035112] [ENSMUST00000182179] [ENSMUST00000182225] [ENSMUST00000182311] [ENSMUST00000182337] [ENSMUST00000182763] [ENSMUST00000183070]
AlphaFold P30415
Predicted Effect probably damaging
Transcript: ENSMUST00000035112
AA Change: T35I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035112
Gene: ENSMUSG00000032525
AA Change: T35I

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 probably damaging
Transcript: ENSMUST00000182179
AA Change: T35I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138437
Gene: ENSMUSG00000032525
AA Change: T35I

DomainStartEndE-ValueType
Pfam:Pro_isomerase 10 103 1.9e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000182225
AA Change: T35I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138168
Gene: ENSMUSG00000032525
AA Change: T35I

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 damaging
Transcript: ENSMUST00000182311
AA Change: T35I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138690
Gene: ENSMUSG00000032525
AA Change: T35I

DomainStartEndE-ValueType
Pfam:Pro_isomerase 10 54 2.9e-8 PFAM
Pfam:Pro_isomerase 44 99 7.1e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000182337
AA Change: T28I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138164
Gene: ENSMUSG00000032525
AA Change: T28I

DomainStartEndE-ValueType
Pfam:Pro_isomerase 7 101 1e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000182763
AA Change: T35I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138272
Gene: ENSMUSG00000032525
AA Change: T35I

DomainStartEndE-ValueType
Pfam:Pro_isomerase 10 68 3.1e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000183070
AA Change: T35I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138611
Gene: ENSMUSG00000032525
AA Change: T35I

DomainStartEndE-ValueType
Pfam:Pro_isomerase 10 103 1.9e-21 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (81/82)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg5 T C 17: 84,983,667 (GRCm39) D124G possibly damaging Het
Ackr3 C G 1: 90,141,923 (GRCm39) N127K probably damaging Het
AL732309.1 A C 2: 25,136,151 (GRCm39) M21R possibly damaging Het
Ankrd52 C A 10: 128,222,032 (GRCm39) T552K possibly damaging Het
Arhgap28 T C 17: 68,202,879 (GRCm39) probably null Het
Arid5b A T 10: 67,964,752 (GRCm39) N306K probably benign Het
C1qtnf3 A C 15: 10,952,707 (GRCm39) K56N probably benign Het
C2 C T 17: 35,100,664 (GRCm39) G52D probably benign Het
Casz1 C T 4: 149,031,490 (GRCm39) T1247M probably damaging Het
Cc2d2b A G 19: 40,797,552 (GRCm39) D778G unknown Het
Cdh5 A G 8: 104,869,425 (GRCm39) D717G probably damaging Het
Clca3a2 G A 3: 144,514,372 (GRCm39) A445V probably damaging Het
Clca3b T A 3: 144,547,181 (GRCm39) M319L possibly damaging Het
Csmd1 G A 8: 16,108,721 (GRCm39) S1894L probably damaging Het
Csnk1g3 A G 18: 54,052,090 (GRCm39) T220A probably damaging Het
Cyp2d10 T G 15: 82,287,961 (GRCm39) T381P probably damaging Het
Ddb2 G A 2: 91,067,229 (GRCm39) probably benign Het
Ddx24 C A 12: 103,382,518 (GRCm39) L688F probably damaging Het
Dennd4c T C 4: 86,747,975 (GRCm39) L1615P unknown Het
Dnah8 T A 17: 31,003,099 (GRCm39) D3599E probably benign Het
Dst T C 1: 34,045,305 (GRCm39) S13P possibly damaging Het
Efcab12 T C 6: 115,800,555 (GRCm39) D156G probably benign Het
Enpp2 A G 15: 54,741,170 (GRCm39) probably null Het
Ephx2 A G 14: 66,322,803 (GRCm39) V490A probably damaging Het
Etnppl A G 3: 130,423,224 (GRCm39) N308D probably damaging Het
F5 TCAGAAGACCTCCTCCCCAGACCTGGGCCAGGTGCCCCTTTCTCCAGATGACAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA TCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA 1: 164,021,150 (GRCm39) probably benign Het
Fam162b A T 10: 51,466,282 (GRCm39) probably null Het
Fancl A G 11: 26,353,362 (GRCm39) E86G probably damaging Het
Flii G A 11: 60,609,866 (GRCm39) T615I probably benign Het
Fndc7 G T 3: 108,779,537 (GRCm39) Q336K probably benign Het
Gm26661 T C 14: 7,791,911 (GRCm38) C109R unknown Het
H2-DMb1 T C 17: 34,378,436 (GRCm39) probably null Het
H2-T10 C T 17: 36,430,189 (GRCm39) G251R probably damaging Het
Harbi1 T C 2: 91,551,044 (GRCm39) I339T probably benign Het
Hsp90aa1 A G 12: 110,661,659 (GRCm39) M119T unknown Het
Ighe T A 12: 113,235,954 (GRCm39) Y124F Het
Ighv7-1 T C 12: 113,860,149 (GRCm39) Y81C probably damaging Het
Ilkap A T 1: 91,313,115 (GRCm39) probably null Het
Inpp5a A G 7: 139,105,586 (GRCm39) D179G probably damaging Het
Itgad A T 7: 127,788,979 (GRCm39) D510V probably damaging Het
Kcnn2 A T 18: 45,693,138 (GRCm39) H238L probably benign Het
Kctd17 T A 15: 78,319,842 (GRCm39) C189S probably damaging Het
Larp4b C A 13: 9,208,616 (GRCm39) A423E probably benign Het
Llgl2 A G 11: 115,741,556 (GRCm39) E562G possibly damaging Het
Macf1 T C 4: 123,268,218 (GRCm39) T6734A probably benign Het
Maz G A 7: 126,623,765 (GRCm39) T377M probably damaging Het
Mmrn1 G T 6: 60,921,917 (GRCm39) G125* probably null Het
Mvp A G 7: 126,592,781 (GRCm39) S377P probably benign Het
Nin C T 12: 70,090,508 (GRCm39) R969Q Het
Nod2 T A 8: 89,379,694 (GRCm39) V65D probably damaging Het
Opa1 A T 16: 29,405,799 (GRCm39) E121D probably benign Het
Or10w3 C T 19: 13,704,270 (GRCm39) A215V probably benign Het
Or1r1 A G 11: 73,874,669 (GRCm39) V255A probably benign Het
Or2n1c T C 17: 38,519,607 (GRCm39) V157A probably benign Het
Or4a76 A T 2: 89,460,447 (GRCm39) I265N possibly damaging Het
Or5ac21 T C 16: 59,123,611 (GRCm39) F32L probably benign Het
Or5b123 A G 19: 13,596,942 (GRCm39) I96V probably benign Het
Or6c88 T A 10: 129,406,718 (GRCm39) S65T probably damaging Het
Or7e174 A T 9: 20,012,726 (GRCm39) I224F possibly damaging Het
Osbpl2 A G 2: 179,791,994 (GRCm39) T233A probably benign Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Plekhh3 T A 11: 101,061,600 (GRCm39) D38V possibly damaging Het
Prtg C T 9: 72,798,122 (GRCm39) A696V probably damaging Het
Ptpn14 T G 1: 189,595,621 (GRCm39) V748G possibly damaging Het
Reg2 A T 6: 78,383,137 (GRCm39) D28V probably benign Het
Rhpn1 A T 15: 75,576,246 (GRCm39) I2F possibly damaging Het
Rundc3a A G 11: 102,290,799 (GRCm39) E294G possibly damaging Het
Scara3 T A 14: 66,168,865 (GRCm39) I251L probably benign Het
Slc23a2 G A 2: 131,931,043 (GRCm39) T152I probably damaging Het
Slc39a2 T G 14: 52,131,650 (GRCm39) S74A possibly damaging Het
Tmprss15 T C 16: 78,758,907 (GRCm39) Y937C probably damaging Het
Tpp2 T C 1: 44,017,938 (GRCm39) L779S probably damaging Het
Tssk2 T C 16: 17,717,227 (GRCm39) V210A possibly damaging Het
Ttn T A 2: 76,725,937 (GRCm39) T6100S unknown Het
Tufm G A 7: 126,088,759 (GRCm39) E317K possibly damaging Het
Vinac1 T C 2: 128,879,772 (GRCm39) D718G unknown Het
Wdfy4 A G 14: 32,769,271 (GRCm39) S2219P Het
Wtap T C 17: 13,199,833 (GRCm39) N50S 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
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
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'- TTATTGTATGGGATTGATCTCCAGTAC -3'
(R):5'- TCCTCTTTTAAGAAATGTTTCCTTCA -3'

Sequencing Primer
(F):5'- ACCATACTGTTGTTGGGT -3'
(R):5'- CTGGGGCATATAATCTTCGCAAG -3'
Posted On 2019-09-13