Incidental Mutation 'R3410:Klra17'
ID 258456
Institutional Source Beutler Lab
Gene Symbol Klra17
Ensembl Gene ENSMUSG00000014543
Gene Name killer cell lectin-like receptor, subfamily A, member 17
Synonyms Ly49q1, Ly49Q, Ly-49Q
MMRRC Submission 040628-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.047) question?
Stock # R3410 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 129808117-129853635 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 129851809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 21 (N21I)
Ref Sequence ENSEMBL: ENSMUSP00000114108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014687] [ENSMUST00000122219]
AlphaFold Q9JMA4
Predicted Effect probably damaging
Transcript: ENSMUST00000014687
AA Change: N21I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000014687
Gene: ENSMUSG00000014543
AA Change: N21I

DomainStartEndE-ValueType
low complexity region 52 69 N/A INTRINSIC
Blast:CLECT 73 126 2e-12 BLAST
CLECT 144 259 1.5e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000122219
AA Change: N21I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114108
Gene: ENSMUSG00000014543
AA Change: N21I

DomainStartEndE-ValueType
low complexity region 53 70 N/A INTRINSIC
Blast:CLECT 74 127 2e-12 BLAST
CLECT 145 260 1.5e-14 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (59/59)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-in allele exhibit reduced plasmacytoid dendritic cell number and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad2 T C 8: 120,342,708 (GRCm39) V418A probably benign Het
Adamts16 T C 13: 70,901,345 (GRCm39) T911A probably benign Het
Adgra1 T C 7: 139,427,619 (GRCm39) F62S possibly damaging Het
Adgra3 A G 5: 50,159,272 (GRCm39) V326A probably damaging Het
Adgrg6 A G 10: 14,316,114 (GRCm39) F569S probably benign Het
Alcam T C 16: 52,130,261 (GRCm39) T30A probably null Het
Arnt2 G A 7: 83,924,655 (GRCm39) R391W probably damaging Het
Ascc3 T C 10: 50,576,196 (GRCm39) V817A probably damaging Het
Atp13a4 G T 16: 29,232,567 (GRCm39) T923K probably damaging Het
Atp5po C T 16: 91,725,794 (GRCm39) R64H probably damaging Het
Ccdc185 T G 1: 182,576,313 (GRCm39) Q125H possibly damaging Het
Ccdc88a T A 11: 29,436,006 (GRCm39) C10S probably damaging Het
Cct2 T C 10: 116,897,968 (GRCm39) N73S probably benign Het
Clock G A 5: 76,377,401 (GRCm39) Q633* probably null Het
Col6a2 T C 10: 76,439,193 (GRCm39) I826V probably benign Het
Cpsf1 G T 15: 76,485,981 (GRCm39) Y396* probably null Het
Dnah1 A T 14: 30,991,774 (GRCm39) M3076K possibly damaging Het
Dxo A G 17: 35,057,825 (GRCm39) N177D probably damaging Het
Fbxw28 A T 9: 109,167,472 (GRCm39) V95E possibly damaging Het
Galnt6 T C 15: 100,597,018 (GRCm39) N383D probably damaging Het
Gpat2 G A 2: 127,270,211 (GRCm39) V75M probably damaging Het
Grik5 T C 7: 24,762,397 (GRCm39) D198G probably benign Het
Gsdmc4 A G 15: 63,763,895 (GRCm39) S401P probably benign Het
Gspt1 A T 16: 11,047,109 (GRCm39) D435E probably damaging Het
Hsf2 T C 10: 57,381,378 (GRCm39) S266P probably damaging Het
Jade2 T C 11: 51,708,050 (GRCm39) D721G probably benign Het
Klhl7 G T 5: 24,343,319 (GRCm39) V212L probably damaging Het
L3mbtl3 T C 10: 26,215,197 (GRCm39) N196S unknown Het
Lama3 G C 18: 12,546,915 (GRCm39) probably null Het
Mcm5 T C 8: 75,848,272 (GRCm39) M507T possibly damaging Het
Mycbp2 T C 14: 103,372,553 (GRCm39) R814G probably damaging Het
Nlrp4b A G 7: 10,449,456 (GRCm39) E186G probably damaging Het
Nlrp4c A G 7: 6,095,569 (GRCm39) K816E possibly damaging Het
Nod1 G T 6: 54,921,902 (GRCm39) R139S probably benign Het
Nudcd1 T C 15: 44,284,207 (GRCm39) M60V probably benign Het
Or5b101 G C 19: 13,005,411 (GRCm39) A94G probably benign Het
Or5p63 G A 7: 107,811,490 (GRCm39) P82L possibly damaging Het
Or5p69 A T 7: 107,967,551 (GRCm39) I285F possibly damaging Het
Or8g28 G T 9: 39,169,897 (GRCm39) Q24K possibly damaging Het
Ovol2 A G 2: 144,159,796 (GRCm39) S82P probably benign Het
Ppl T C 16: 4,925,381 (GRCm39) E86G possibly damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ripk4 T C 16: 97,545,157 (GRCm39) T497A probably benign Het
Scml4 A G 10: 42,833,667 (GRCm39) Y327C probably damaging Het
Serpina3n A G 12: 104,377,536 (GRCm39) E263G possibly damaging Het
Six4 A G 12: 73,159,657 (GRCm39) F101S probably damaging Het
Sltm T G 9: 70,493,240 (GRCm39) L728V probably damaging Het
Sptb T G 12: 76,657,589 (GRCm39) K1311Q possibly damaging Het
Sycp1 T C 3: 102,748,357 (GRCm39) K812E possibly damaging Het
Tenm4 T C 7: 96,501,737 (GRCm39) Y1314H probably damaging Het
Tmem67 A T 4: 12,073,952 (GRCm39) M288K probably benign Het
Toporsl T C 4: 52,610,970 (GRCm39) S288P probably benign Het
Ttn A C 2: 76,772,749 (GRCm39) N2415K possibly damaging Het
Vmn2r65 T C 7: 84,595,896 (GRCm39) I263V probably benign Het
Vmn2r89 A T 14: 51,693,628 (GRCm39) E326V probably damaging Het
Wdr81 A G 11: 75,343,758 (GRCm39) I503T probably damaging Het
Other mutations in Klra17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00727:Klra17 APN 6 129,808,472 (GRCm39) missense probably benign 0.12
IGL02084:Klra17 APN 6 129,808,556 (GRCm39) missense probably damaging 1.00
IGL02995:Klra17 APN 6 129,845,647 (GRCm39) critical splice donor site probably null
IGL03238:Klra17 APN 6 129,845,773 (GRCm39) missense probably benign 0.43
R0118:Klra17 UTSW 6 129,808,552 (GRCm39) missense probably benign 0.01
R0583:Klra17 UTSW 6 129,845,656 (GRCm39) missense probably damaging 1.00
R1103:Klra17 UTSW 6 129,845,806 (GRCm39) unclassified probably benign
R1378:Klra17 UTSW 6 129,842,647 (GRCm39) missense probably damaging 0.96
R1513:Klra17 UTSW 6 129,849,277 (GRCm39) missense possibly damaging 0.61
R1817:Klra17 UTSW 6 129,845,681 (GRCm39) splice site probably null
R2262:Klra17 UTSW 6 129,851,757 (GRCm39) critical splice donor site probably null
R2446:Klra17 UTSW 6 129,808,477 (GRCm39) missense probably benign 0.02
R2484:Klra17 UTSW 6 129,845,720 (GRCm39) missense probably damaging 1.00
R3411:Klra17 UTSW 6 129,851,809 (GRCm39) missense probably damaging 0.99
R3739:Klra17 UTSW 6 129,850,328 (GRCm39) missense probably benign 0.03
R4747:Klra17 UTSW 6 129,849,232 (GRCm39) missense probably damaging 0.97
R4956:Klra17 UTSW 6 129,850,279 (GRCm39) missense probably damaging 1.00
R5079:Klra17 UTSW 6 129,849,159 (GRCm39) missense possibly damaging 0.72
R5310:Klra17 UTSW 6 129,845,671 (GRCm39) missense probably damaging 1.00
R5366:Klra17 UTSW 6 129,851,858 (GRCm39) missense possibly damaging 0.89
R5875:Klra17 UTSW 6 129,851,791 (GRCm39) missense probably benign 0.01
R6043:Klra17 UTSW 6 129,849,150 (GRCm39) critical splice donor site probably null
R6515:Klra17 UTSW 6 129,808,462 (GRCm39) missense probably damaging 1.00
R6675:Klra17 UTSW 6 129,849,286 (GRCm39) missense probably damaging 0.99
R7201:Klra17 UTSW 6 129,850,306 (GRCm39) missense possibly damaging 0.62
R7296:Klra17 UTSW 6 129,808,555 (GRCm39) missense possibly damaging 0.95
R8141:Klra17 UTSW 6 129,849,292 (GRCm39) missense probably damaging 1.00
R8260:Klra17 UTSW 6 129,808,421 (GRCm39) missense probably damaging 0.99
R8399:Klra17 UTSW 6 129,851,900 (GRCm39) splice site probably benign
R8503:Klra17 UTSW 6 129,845,777 (GRCm39) missense probably benign 0.02
R8694:Klra17 UTSW 6 129,851,780 (GRCm39) missense probably benign 0.00
R8861:Klra17 UTSW 6 129,851,865 (GRCm39) missense probably damaging 0.99
R9188:Klra17 UTSW 6 129,808,523 (GRCm39) missense probably damaging 1.00
R9211:Klra17 UTSW 6 129,842,651 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- ACTTTGTACATGATTACCCTCCAAC -3'
(R):5'- TAGGAAGACCCCACCCTTTC -3'

Sequencing Primer
(F):5'- ACATGATTACCCTCCAACTAAAATTC -3'
(R):5'- CCCAGCCCTCTGAATCATC -3'
Posted On 2015-01-23