Incidental Mutation 'R1807:Klra5'
ID 203529
Institutional Source Beutler Lab
Gene Symbol Klra5
Ensembl Gene ENSMUSG00000030173
Gene Name killer cell lectin-like receptor, subfamily A, member 5
Synonyms Ly49e
MMRRC Submission 039836-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1807 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 129874715-129890188 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129876383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 141 (F141L)
Ref Sequence ENSEMBL: ENSMUSP00000126290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014683] [ENSMUST00000118060] [ENSMUST00000169901]
AlphaFold Q60652
Predicted Effect probably benign
Transcript: ENSMUST00000014683
AA Change: F231L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000014683
Gene: ENSMUSG00000030173
AA Change: F231L

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: F231L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112795
Gene: ENSMUSG00000030173
AA Change: F231L

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 noncoding transcript
Transcript: ENSMUST00000167079
SMART Domains Protein: ENSMUSP00000125971
Gene: ENSMUSG00000030173

DomainStartEndE-ValueType
CLECT 53 168 3.66e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169901
AA Change: F141L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000126290
Gene: ENSMUSG00000030173
AA Change: F141L

DomainStartEndE-ValueType
CLECT 53 168 3.66e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177871
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.7%
  • 20x: 90.7%
Validation Efficiency 97% (77/79)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik C T 17: 36,205,961 (GRCm39) W27* probably null Het
4933430I17Rik T A 4: 62,460,993 (GRCm39) Y289* probably null Het
A3galt2 A G 4: 128,661,394 (GRCm39) I348V probably benign Het
Abca13 A G 11: 9,241,755 (GRCm39) Y1206C probably damaging Het
Adar T C 3: 89,642,172 (GRCm39) S18P probably benign Het
Akr1cl T C 1: 65,061,106 (GRCm39) D139G possibly damaging Het
Aldh1b1 A G 4: 45,802,873 (GRCm39) Y137C possibly damaging Het
Arsa T C 15: 89,359,525 (GRCm39) M86V possibly damaging Het
Atg9b C A 5: 24,592,055 (GRCm39) R648L probably damaging Het
Atrn A G 2: 130,824,692 (GRCm39) N1042S possibly damaging Het
Ccdc6 T A 10: 70,010,989 (GRCm39) D325E possibly damaging Het
Cdk12 T C 11: 98,101,203 (GRCm39) S354P unknown Het
Chst3 T A 10: 60,022,130 (GRCm39) Y239F probably benign Het
Cilp2 C A 8: 70,334,844 (GRCm39) R718L probably damaging Het
Col27a1 A G 4: 63,249,586 (GRCm39) probably benign Het
Ctbp2 T C 7: 132,616,137 (GRCm39) N266S probably benign Het
Ctnnd2 T C 15: 30,620,017 (GRCm39) V123A probably damaging Het
Cyria G A 12: 12,411,505 (GRCm39) R123Q probably benign Het
D7Ertd443e T A 7: 133,895,034 (GRCm39) E552V probably null Het
Dcst1 T A 3: 89,260,848 (GRCm39) H516L probably damaging Het
Depp1 G A 6: 116,628,683 (GRCm39) V9M possibly damaging Het
Drd2 C T 9: 49,316,367 (GRCm39) L376F probably damaging Het
Edn1 A G 13: 42,460,270 (GRCm39) N175S probably damaging Het
Eipr1 G T 12: 28,816,838 (GRCm39) G65V probably damaging Het
Epha4 G A 1: 77,351,541 (GRCm39) P905S probably benign Het
Erbb2 T C 11: 98,319,680 (GRCm39) Y591H probably damaging Het
Fam135b G A 15: 71,335,761 (GRCm39) R478C probably benign Het
Fat2 T C 11: 55,180,085 (GRCm39) T1419A probably damaging Het
Flnb C T 14: 7,934,645 (GRCm38) T2239I probably benign Het
Gm7713 T C 15: 59,866,320 (GRCm39) noncoding transcript Het
Hsf5 C T 11: 87,548,168 (GRCm39) P617L probably benign Het
Kcnk12 C A 17: 88,053,468 (GRCm39) R398L probably benign Het
Kif21b T A 1: 136,075,531 (GRCm39) N219K possibly damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lmtk3 C T 7: 45,442,702 (GRCm39) P462S probably benign Het
Mast2 A G 4: 116,167,938 (GRCm39) probably benign Het
Me1 T A 9: 86,532,932 (GRCm39) T197S probably damaging Het
Msr1 T A 8: 40,072,948 (GRCm39) Q267L probably benign Het
Nfic T C 10: 81,240,819 (GRCm39) T328A probably benign Het
Nphp3 G A 9: 103,897,940 (GRCm39) D390N probably benign Het
Nr2e1 T A 10: 42,458,905 (GRCm39) probably null Het
Nt5el A T 13: 105,218,744 (GRCm39) Q26L probably benign Het
Or52e19b T A 7: 103,032,790 (GRCm39) N140Y probably benign Het
Or5t9 T A 2: 86,659,445 (GRCm39) F116L probably benign Het
Pard6b T C 2: 167,929,332 (GRCm39) L46P probably damaging Het
Prkaa1 T A 15: 5,173,436 (GRCm39) L20Q probably damaging Het
Rapgefl1 T C 11: 98,736,815 (GRCm39) probably null Het
Recql5 T C 11: 115,785,941 (GRCm39) K611E possibly damaging Het
Rexo1 A T 10: 80,378,413 (GRCm39) I1180N possibly damaging Het
Rnf26rt A G 6: 76,474,397 (GRCm39) V73A probably benign Het
Rph3a T C 5: 121,083,456 (GRCm39) N605D probably damaging Het
Sema6a A G 18: 47,409,491 (GRCm39) V592A possibly damaging Het
Skint11 A T 4: 114,051,893 (GRCm39) R80S probably benign Het
Smpdl3a C A 10: 57,677,118 (GRCm39) P72H probably damaging Het
Sobp T G 10: 43,036,822 (GRCm39) M39L possibly damaging Het
Sparcl1 T A 5: 104,233,627 (GRCm39) Y574F probably damaging Het
Spns3 C T 11: 72,429,166 (GRCm39) W206* probably null Het
Srf A G 17: 46,864,685 (GRCm39) V190A possibly damaging Het
Stag1 T G 9: 100,790,719 (GRCm39) H742Q probably benign Het
Strn3 A T 12: 51,673,986 (GRCm39) S542T probably benign Het
Synpo2 T C 3: 122,873,906 (GRCm39) E1020G possibly damaging Het
Tcerg1l T A 7: 137,996,826 (GRCm39) H137L probably benign Het
Tlr12 A T 4: 128,511,229 (GRCm39) D340E probably benign Het
Tmem130 T A 5: 144,692,174 (GRCm39) T77S probably benign Het
Tmem143 C A 7: 45,547,037 (GRCm39) R68S probably damaging Het
Tnrc6a CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT 7: 122,761,669 (GRCm39) probably benign Het
Trem1 G T 17: 48,548,663 (GRCm39) G67* probably null Het
Tsc1 A G 2: 28,576,125 (GRCm39) D978G probably benign Het
Txndc9 A T 1: 38,033,096 (GRCm39) H95Q probably damaging Het
Yju2b C T 8: 84,986,936 (GRCm39) R187Q probably damaging Het
Zfp35 T A 18: 24,136,986 (GRCm39) N443K probably benign Het
Other mutations in Klra5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00838:Klra5 APN 6 129,888,322 (GRCm39) missense possibly damaging 0.63
IGL00972:Klra5 APN 6 129,883,568 (GRCm39) missense probably damaging 1.00
IGL01770:Klra5 APN 6 129,883,627 (GRCm39) missense probably damaging 1.00
IGL01978:Klra5 APN 6 129,888,393 (GRCm39) missense probably benign 0.32
IGL01998:Klra5 APN 6 129,883,676 (GRCm39) nonsense probably null
IGL02103:Klra5 APN 6 129,888,307 (GRCm39) splice site probably null
IGL02995:Klra5 APN 6 129,883,577 (GRCm39) missense possibly damaging 0.46
IGL03036:Klra5 APN 6 129,885,830 (GRCm39) missense probably damaging 0.99
R0314:Klra5 UTSW 6 129,880,553 (GRCm39) missense probably damaging 1.00
R0378:Klra5 UTSW 6 129,883,577 (GRCm39) missense possibly damaging 0.46
R0646:Klra5 UTSW 6 129,880,527 (GRCm39) missense probably damaging 1.00
R0731:Klra5 UTSW 6 129,885,759 (GRCm39) missense possibly damaging 0.88
R1552:Klra5 UTSW 6 129,886,848 (GRCm39) missense probably damaging 0.97
R1572:Klra5 UTSW 6 129,883,585 (GRCm39) missense probably damaging 1.00
R4451:Klra5 UTSW 6 129,885,797 (GRCm39) nonsense probably null
R4619:Klra5 UTSW 6 129,885,776 (GRCm39) missense probably benign 0.05
R4647:Klra5 UTSW 6 129,876,339 (GRCm39) missense probably damaging 0.99
R5019:Klra5 UTSW 6 129,876,352 (GRCm39) missense probably benign
R5364:Klra5 UTSW 6 129,876,316 (GRCm39) missense probably benign
R6724:Klra5 UTSW 6 129,883,643 (GRCm39) missense probably benign 0.29
R6925:Klra5 UTSW 6 129,888,420 (GRCm39) missense probably benign 0.41
R7834:Klra5 UTSW 6 129,876,253 (GRCm39) critical splice donor site probably null
R8855:Klra5 UTSW 6 129,880,533 (GRCm39) missense probably damaging 1.00
R8866:Klra5 UTSW 6 129,880,533 (GRCm39) missense probably damaging 1.00
R9144:Klra5 UTSW 6 129,886,911 (GRCm39) missense probably benign 0.16
R9145:Klra5 UTSW 6 129,886,911 (GRCm39) missense probably benign 0.16
R9148:Klra5 UTSW 6 129,886,911 (GRCm39) missense probably benign 0.16
R9440:Klra5 UTSW 6 129,883,686 (GRCm39) missense possibly damaging 0.95
R9452:Klra5 UTSW 6 129,883,686 (GRCm39) missense possibly damaging 0.95
R9453:Klra5 UTSW 6 129,883,686 (GRCm39) missense possibly damaging 0.95
R9454:Klra5 UTSW 6 129,883,686 (GRCm39) missense possibly damaging 0.95
R9469:Klra5 UTSW 6 129,883,686 (GRCm39) missense possibly damaging 0.95
R9471:Klra5 UTSW 6 129,883,686 (GRCm39) missense possibly damaging 0.95
R9615:Klra5 UTSW 6 129,883,686 (GRCm39) missense possibly damaging 0.95
R9627:Klra5 UTSW 6 129,883,701 (GRCm39) missense probably benign 0.03
Z1176:Klra5 UTSW 6 129,888,415 (GRCm39) missense not run
Predicted Primers PCR Primer
(F):5'- AACAGTCCCAATGCTCCTGC -3'
(R):5'- ATCCACTGATCAAACACTTGTGAG -3'

Sequencing Primer
(F):5'- CACAGCAGACTATGTTCTGTAATC -3'
(R):5'- AGTTTTGGTGTGATGAGACCATTTC -3'
Posted On 2014-06-23