Incidental Mutation 'R5541:Klrb1a'
ID 435958
Institutional Source Beutler Lab
Gene Symbol Klrb1a
Ensembl Gene ENSMUSG00000030361
Gene Name killer cell lectin-like receptor subfamily B member 1A
Synonyms Ly55a, Nkrp1-a, NKR-P1A
MMRRC Submission 043099-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5541 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 128586190-128599897 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 128586699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 219 (H219Y)
Ref Sequence ENSEMBL: ENSMUSP00000145519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032512] [ENSMUST00000171306] [ENSMUST00000203275] [ENSMUST00000204819]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032512
AA Change: H222Y

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000032512
Gene: ENSMUSG00000030361
AA Change: H222Y

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 100 217 1.52e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171306
AA Change: H189Y

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000132390
Gene: ENSMUSG00000030361
AA Change: H189Y

DomainStartEndE-ValueType
CLECT 67 184 1.52e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203275
AA Change: H210Y

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000145086
Gene: ENSMUSG00000030361
AA Change: H210Y

DomainStartEndE-ValueType
transmembrane domain 39 61 N/A INTRINSIC
CLECT 88 205 7.6e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204819
AA Change: H219Y

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000145519
Gene: ENSMUSG00000030361
AA Change: H219Y

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 97 214 7.6e-27 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.2%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A G 10: 87,061,808 (GRCm39) K86R probably benign Het
Abca13 T C 11: 9,241,545 (GRCm39) V1136A probably benign Het
Arfgap2 G A 2: 91,106,114 (GRCm39) R530H probably benign Het
Arhgap30 T C 1: 171,231,707 (GRCm39) probably null Het
Asb7 T C 7: 66,329,017 (GRCm39) R8G probably benign Het
Bod1l T C 5: 41,949,276 (GRCm39) N2949D probably benign Het
Ccdc86 T C 19: 10,925,918 (GRCm39) E227G probably damaging Het
Cercam A G 2: 29,765,641 (GRCm39) D261G probably benign Het
Chd9 A T 8: 91,778,132 (GRCm39) E2714D probably benign Het
Dcp1a T A 14: 30,224,796 (GRCm39) S126R probably damaging Het
Defa17 T A 8: 22,146,565 (GRCm39) C64S probably damaging Het
Depdc5 A T 5: 33,021,973 (GRCm39) probably benign Het
Dhx29 A G 13: 113,076,908 (GRCm39) N259S possibly damaging Het
Dnah6 A T 6: 73,169,971 (GRCm39) L323Q possibly damaging Het
Dnah9 T C 11: 66,036,162 (GRCm39) Y416C probably damaging Het
Faap100 T A 11: 120,268,458 (GRCm39) E105V possibly damaging Het
Fbxw15 T G 9: 109,394,498 (GRCm39) I106L probably benign Het
Flacc1 A G 1: 58,697,588 (GRCm39) M384T probably benign Het
Gm10610 A G 7: 83,198,614 (GRCm39) noncoding transcript Het
Gpr22 A G 12: 31,759,348 (GRCm39) F258S probably damaging Het
Grip1 A T 10: 119,908,623 (GRCm39) I618F probably damaging Het
Hspg2 C T 4: 137,247,862 (GRCm39) T1233I probably damaging Het
Hspg2 C A 4: 137,270,136 (GRCm39) Q2365K probably benign Het
Intu A G 3: 40,647,017 (GRCm39) probably null Het
Kdm1b T C 13: 47,232,672 (GRCm39) M714T probably damaging Het
Kif21a A G 15: 90,852,316 (GRCm39) M924T probably damaging Het
Klb A T 5: 65,536,577 (GRCm39) M636L probably benign Het
Macroh2a2 T C 10: 61,583,496 (GRCm39) I215V probably benign Het
Marchf10 C T 11: 105,280,957 (GRCm39) D443N probably damaging Het
Nos1 A G 5: 118,043,459 (GRCm39) E578G probably damaging Het
Or8b39 T C 9: 37,996,419 (GRCm39) C96R probably damaging Het
Or9i1 T C 19: 13,839,328 (GRCm39) I57T probably benign Het
Pard3b A G 1: 61,678,502 (GRCm39) Y34C probably damaging Het
Pcdh17 T A 14: 84,684,856 (GRCm39) V441E probably damaging Het
Pde6g A T 11: 120,338,998 (GRCm39) I64N probably damaging Het
Pdia4 C T 6: 47,773,571 (GRCm39) V593M probably damaging Het
Pnn T G 12: 59,118,716 (GRCm39) V433G possibly damaging Het
Rbak G A 5: 143,159,745 (GRCm39) S436F probably damaging Het
Rpl11 A G 4: 135,780,043 (GRCm39) probably benign Het
Ryr1 G T 7: 28,785,610 (GRCm39) Q1701K probably damaging Het
Scn1a T A 2: 66,154,977 (GRCm39) T661S probably benign Het
Smg1 T A 7: 117,756,386 (GRCm39) probably benign Het
St8sia2 T C 7: 73,616,648 (GRCm39) D109G probably benign Het
Stk-ps1 T A 17: 36,709,105 (GRCm39) noncoding transcript Het
Stxbp3-ps C T 19: 9,535,334 (GRCm39) noncoding transcript Het
Taf1d T A 9: 15,220,146 (GRCm39) F132I probably damaging Het
Tfap2b A G 1: 19,284,250 (GRCm39) S35G possibly damaging Het
Tnk2 C T 16: 32,488,341 (GRCm39) T198I probably benign Het
Trappc2b T C 11: 51,576,796 (GRCm39) H34R probably benign Het
Ube2q2 T A 9: 55,099,163 (GRCm39) V168E possibly damaging Het
Ucma A G 2: 4,986,141 (GRCm39) R105G probably benign Het
Vmn2r97 C T 17: 19,148,617 (GRCm39) Q171* probably null Het
Wapl T C 14: 34,452,619 (GRCm39) probably null Het
Zfand4 T A 6: 116,291,256 (GRCm39) C397S possibly damaging Het
Zfhx3 A G 8: 109,675,583 (GRCm39) N2211S probably damaging Het
Zfp143 G T 7: 109,669,687 (GRCm39) G39C probably benign Het
Zfp568 T A 7: 29,722,301 (GRCm39) D414E possibly damaging Het
Zfp574 C T 7: 24,781,375 (GRCm39) A799V probably damaging Het
Other mutations in Klrb1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Klrb1a APN 6 128,595,008 (GRCm39) splice site probably benign
IGL01678:Klrb1a APN 6 128,595,411 (GRCm39) splice site probably benign
IGL01976:Klrb1a APN 6 128,595,072 (GRCm39) missense probably benign 0.36
R0387:Klrb1a UTSW 6 128,586,697 (GRCm39) missense possibly damaging 0.79
R1348:Klrb1a UTSW 6 128,586,797 (GRCm39) missense possibly damaging 0.79
R3709:Klrb1a UTSW 6 128,595,466 (GRCm39) missense probably benign 0.00
R5253:Klrb1a UTSW 6 128,596,126 (GRCm39) missense probably benign 0.00
R5630:Klrb1a UTSW 6 128,595,573 (GRCm39) missense probably benign 0.01
R5913:Klrb1a UTSW 6 128,595,472 (GRCm39) missense probably damaging 0.99
R6248:Klrb1a UTSW 6 128,596,137 (GRCm39) missense probably damaging 1.00
R7248:Klrb1a UTSW 6 128,586,697 (GRCm39) missense possibly damaging 0.52
R9555:Klrb1a UTSW 6 128,595,427 (GRCm39) missense probably damaging 1.00
R9648:Klrb1a UTSW 6 128,586,816 (GRCm39) critical splice acceptor site probably null
R9716:Klrb1a UTSW 6 128,597,239 (GRCm39) missense probably benign 0.00
Z1176:Klrb1a UTSW 6 128,595,548 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CAGGTTAGGTGCAGAGATCTGG -3'
(R):5'- TGCCTTCAATGTTCACAACAGG -3'

Sequencing Primer
(F):5'- GTAATTGAGATGGGATTCACACTC -3'
(R):5'- CAATGTTCACAACAGGATGTTTGTG -3'
Posted On 2016-10-24