Incidental Mutation 'IGL01978:Klra5'
ID181752
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klra5
Ensembl Gene ENSMUSG00000030173
Gene Namekiller cell lectin-like receptor, subfamily A, member 5
SynonymsLy49e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01978
Quality Score
Status
Chromosome6
Chromosomal Location129898996-129917650 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129911430 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 11 (V11A)
Ref Sequence ENSEMBL: ENSMUSP00000112795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014683] [ENSMUST00000118060] [ENSMUST00000169901]
Predicted Effect probably benign
Transcript: ENSMUST00000014683
AA Change: V11A

PolyPhen 2 Score 0.318 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000014683
Gene: ENSMUSG00000030173
AA Change: V11A

DomainStartEndE-ValueType
low complexity region 56 66 N/A INTRINSIC
Blast:CLECT 73 123 4e-9 BLAST
CLECT 143 258 3.66e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118060
AA Change: V11A

PolyPhen 2 Score 0.318 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112795
Gene: ENSMUSG00000030173
AA Change: V11A

DomainStartEndE-ValueType
low complexity region 56 66 N/A INTRINSIC
Blast:CLECT 73 123 4e-9 BLAST
CLECT 143 258 3.66e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169901
SMART Domains Protein: ENSMUSP00000126290
Gene: ENSMUSG00000030173

DomainStartEndE-ValueType
CLECT 53 168 3.66e-18 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal NK and T cell morphology and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A T 15: 8,219,382 N1805I probably damaging Het
9830107B12Rik T A 17: 48,145,993 T6S probably damaging Het
Acot5 T C 12: 84,075,398 V252A possibly damaging Het
Bmper A T 9: 23,381,441 N349Y probably damaging Het
Brap A G 5: 121,678,847 probably benign Het
Col9a2 G A 4: 121,044,666 G139E unknown Het
Cyp2j8 A C 4: 96,504,009 probably null Het
Dcbld2 A G 16: 58,464,319 D612G probably benign Het
Dsc3 C T 18: 19,974,196 R456Q possibly damaging Het
Fat2 T C 11: 55,270,146 T3253A probably benign Het
Hoxc12 T A 15: 102,936,864 H4Q probably damaging Het
Il6st A G 13: 112,497,357 E445G possibly damaging Het
Ipo8 T C 6: 148,777,289 E937G probably benign Het
Kif5a A C 10: 127,245,739 D185E probably benign Het
Klhl38 T C 15: 58,315,089 D495G probably damaging Het
Lrch1 G A 14: 74,786,342 T581M probably damaging Het
Mecom A G 3: 29,963,166 I450T probably damaging Het
Mrgprb2 C A 7: 48,552,564 V138L probably damaging Het
Muc15 G A 2: 110,731,596 A126T probably benign Het
Mybpc1 A T 10: 88,531,770 I522K probably damaging Het
Nectin1 G A 9: 43,792,147 R234H probably damaging Het
Olfr1450 T C 19: 12,954,042 F151S probably benign Het
Olfr190 A T 16: 59,074,267 I271K probably benign Het
Pdia6 T A 12: 17,274,422 H91Q possibly damaging Het
Pfkfb4 A T 9: 109,028,942 H445L probably damaging Het
Pkd1l1 T C 11: 8,961,336 T314A unknown Het
Rb1cc1 A G 1: 6,238,368 D159G probably damaging Het
Rhoh T A 5: 65,892,688 S100R probably benign Het
Rsbn1 T A 3: 103,961,500 D618E probably damaging Het
Slc25a47 T C 12: 108,851,190 V4A probably damaging Het
Svs3b T A 2: 164,256,621 M1L probably benign Het
Thsd7a T C 6: 12,331,006 N1379S probably benign Het
Tmed3 T C 9: 89,704,753 D58G probably benign Het
Trh G A 6: 92,242,615 A240V probably benign Het
Ubox5 A T 2: 130,600,452 V105E probably benign Het
Vmn2r67 A G 7: 85,151,441 probably null Het
Vps13c A G 9: 67,930,643 H1825R probably benign Het
Wasf1 C A 10: 40,936,201 P329T unknown Het
Wee2 T C 6: 40,455,153 F219L probably damaging Het
Zp3r T C 1: 130,598,941 D175G probably damaging Het
Other mutations in Klra5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Klra5 APN 6 129911359 missense possibly damaging 0.63
IGL00972:Klra5 APN 6 129906605 missense probably damaging 1.00
IGL01770:Klra5 APN 6 129906664 missense probably damaging 1.00
IGL01998:Klra5 APN 6 129906713 nonsense probably null
IGL02103:Klra5 APN 6 129911344 splice site probably null
IGL02995:Klra5 APN 6 129906614 missense possibly damaging 0.46
IGL03036:Klra5 APN 6 129908867 missense probably damaging 0.99
R0314:Klra5 UTSW 6 129903590 missense probably damaging 1.00
R0378:Klra5 UTSW 6 129906614 missense possibly damaging 0.46
R0646:Klra5 UTSW 6 129903564 missense probably damaging 1.00
R0731:Klra5 UTSW 6 129908796 missense possibly damaging 0.88
R1552:Klra5 UTSW 6 129909885 missense probably damaging 0.97
R1572:Klra5 UTSW 6 129906622 missense probably damaging 1.00
R1807:Klra5 UTSW 6 129899420 missense probably benign 0.00
R4451:Klra5 UTSW 6 129908834 nonsense probably null
R4619:Klra5 UTSW 6 129908813 missense probably benign 0.05
R4647:Klra5 UTSW 6 129899376 missense probably damaging 0.99
R5019:Klra5 UTSW 6 129899389 missense probably benign
R5364:Klra5 UTSW 6 129899353 missense probably benign
R6724:Klra5 UTSW 6 129906680 missense probably benign 0.29
R6925:Klra5 UTSW 6 129911457 missense probably benign 0.41
R7834:Klra5 UTSW 6 129899290 critical splice donor site probably null
R7917:Klra5 UTSW 6 129899290 critical splice donor site probably null
Z1176:Klra5 UTSW 6 129911452 missense not run
Posted On2014-05-07