Incidental Mutation 'R0387:Klrb1a'
ID 31341
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 038593-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0387 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 128586190-128599897 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 128586697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 189 (H189Q)
Ref Sequence ENSEMBL: ENSMUSP00000132390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032512] [ENSMUST00000171306] [ENSMUST00000203275] [ENSMUST00000204819]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000032512
AA Change: H222Q

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000032512
Gene: ENSMUSG00000030361
AA Change: H222Q

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 100 217 1.52e-24 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000171306
AA Change: H189Q

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132390
Gene: ENSMUSG00000030361
AA Change: H189Q

DomainStartEndE-ValueType
CLECT 67 184 1.52e-24 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000203275
AA Change: H210Q

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145086
Gene: ENSMUSG00000030361
AA Change: H210Q

DomainStartEndE-ValueType
transmembrane domain 39 61 N/A INTRINSIC
CLECT 88 205 7.6e-27 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000204819
AA Change: H219Q

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145519
Gene: ENSMUSG00000030361
AA Change: H219Q

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 97 214 7.6e-27 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.7%
  • 10x: 94.2%
  • 20x: 85.0%
Validation Efficiency 99% (77/78)
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T G 7: 119,932,075 (GRCm39) probably null Het
Abcc9 T A 6: 142,585,230 (GRCm39) K825* probably null Het
Afp T C 5: 90,645,150 (GRCm39) C189R probably damaging Het
Akap9 T C 5: 4,001,678 (GRCm39) probably benign Het
Alpk3 A T 7: 80,753,975 (GRCm39) T1652S possibly damaging Het
Atg4b C A 1: 93,714,278 (GRCm39) Q354K probably benign Het
Atxn2 T C 5: 121,940,206 (GRCm39) S388P possibly damaging Het
C2cd3 T A 7: 100,071,714 (GRCm39) probably benign Het
Cacna2d2 C A 9: 107,391,080 (GRCm39) T403K probably damaging Het
Cap2 C T 13: 46,713,992 (GRCm39) H79Y probably damaging Het
Car10 G T 11: 93,473,847 (GRCm39) probably null Het
Ccno T C 13: 113,126,401 (GRCm39) L290P probably damaging Het
Cfap69 T C 5: 5,639,303 (GRCm39) K624E probably damaging Het
Ctnna3 A G 10: 64,421,909 (GRCm39) M568V probably benign Het
Cyp1b1 C A 17: 80,021,203 (GRCm39) V180L probably benign Het
Cyp2u1 G T 3: 131,089,201 (GRCm39) probably null Het
Dcp1a T C 14: 30,241,636 (GRCm39) probably null Het
Dnm1 C T 2: 32,210,593 (GRCm39) G1S possibly damaging Het
Dnmt1 A G 9: 20,829,509 (GRCm39) L698P probably damaging Het
Dock10 C A 1: 80,517,993 (GRCm39) C1327F probably damaging Het
Dph3b-ps A G 13: 106,683,363 (GRCm39) noncoding transcript Het
Dpyd G A 3: 119,220,875 (GRCm39) D949N probably benign Het
Dync2li1 A G 17: 84,962,768 (GRCm39) K345E possibly damaging Het
Eml2 T A 7: 18,916,184 (GRCm39) probably null Het
Exoc7 A G 11: 116,185,227 (GRCm39) probably benign Het
Faah A T 4: 115,862,889 (GRCm39) C113* probably null Het
Fcf1 T A 12: 85,019,776 (GRCm39) D16E probably benign Het
Fcgbp T C 7: 27,790,879 (GRCm39) probably benign Het
Ghr A G 15: 3,349,373 (GRCm39) S602P probably benign Het
Gm5114 T C 7: 39,058,233 (GRCm39) D462G probably benign Het
Gm8186 T A 17: 26,318,000 (GRCm39) S66C probably damaging Het
Gorab C T 1: 163,224,403 (GRCm39) V133M probably benign Het
Gria1 G A 11: 57,200,710 (GRCm39) probably null Het
Grik1 T A 16: 87,831,238 (GRCm39) probably benign Het
Gtf3c1 A G 7: 125,280,276 (GRCm39) L378P probably damaging Het
Htr5b A T 1: 121,455,275 (GRCm39) V215D probably damaging Het
Htra1 A G 7: 130,581,208 (GRCm39) T319A probably damaging Het
Idh2 C T 7: 79,748,005 (GRCm39) A232T probably damaging Het
Lhfpl6 A G 3: 52,950,749 (GRCm39) T8A probably benign Het
Ly75 T A 2: 60,136,748 (GRCm39) Y1493F probably benign Het
Mfsd5 T C 15: 102,189,531 (GRCm39) I301T possibly damaging Het
Mlkl C T 8: 112,059,982 (GRCm39) E135K probably damaging Het
Mrgprx2 A C 7: 48,148,908 (GRCm39) M1R probably null Het
Mroh2a G C 1: 88,173,764 (GRCm39) A871P probably damaging Het
Mtbp A G 15: 55,474,425 (GRCm39) I280V possibly damaging Het
Myo5c A T 9: 75,192,303 (GRCm39) probably benign Het
Nos3 A G 5: 24,572,583 (GRCm39) K174R probably damaging Het
Oas2 A T 5: 120,883,737 (GRCm39) probably benign Het
Or8b40 T A 9: 38,027,066 (GRCm39) probably null Het
Pi4kb G C 3: 94,892,051 (GRCm39) E256Q probably benign Het
Pik3c2a T A 7: 115,972,979 (GRCm39) I739F probably damaging Het
Pla2r1 T A 2: 60,262,945 (GRCm39) K1031N probably benign Het
Plk4 A T 3: 40,767,319 (GRCm39) probably benign Het
Polq T C 16: 36,849,792 (GRCm39) C349R probably damaging Het
Polq G T 16: 36,909,679 (GRCm39) E2354D probably damaging Het
Prss22 A G 17: 24,212,903 (GRCm39) L278P probably damaging Het
Prss3l A G 6: 41,420,303 (GRCm39) I141T possibly damaging Het
Ptprk G A 10: 28,230,625 (GRCm39) V239I possibly damaging Het
Raph1 T G 1: 60,549,655 (GRCm39) probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ripor3 C T 2: 167,825,692 (GRCm39) W755* probably null Het
Rnd3 G T 2: 51,038,243 (GRCm39) D77E probably damaging Het
Ryr1 T C 7: 28,782,792 (GRCm39) probably benign Het
Serpinb1a C T 13: 33,032,721 (GRCm39) V63I probably benign Het
Six1 T G 12: 73,092,815 (GRCm39) Y129S probably damaging Het
Spata31d1a G A 13: 59,851,315 (GRCm39) T271I probably damaging Het
Stab1 T C 14: 30,870,058 (GRCm39) D1387G probably benign Het
Stra6 T A 9: 58,060,466 (GRCm39) M625K probably benign Het
Syne1 T C 10: 5,301,029 (GRCm39) S900G probably benign Het
Tdpoz4 A C 3: 93,704,007 (GRCm39) K101N probably benign Het
Tigd2 T C 6: 59,188,143 (GRCm39) Y337H probably benign Het
Tnxb A G 17: 34,902,548 (GRCm39) I1134V probably benign Het
Tspyl5 A G 15: 33,687,081 (GRCm39) I288T probably damaging Het
Ulk1 A G 5: 110,936,663 (GRCm39) V61A possibly damaging Het
Xxylt1 A G 16: 30,776,194 (GRCm39) Y381H probably benign Het
Zcchc9 T A 13: 91,949,066 (GRCm39) M12L probably benign Het
Zfp106 T C 2: 120,358,953 (GRCm39) probably null Het
Zfp74 T A 7: 29,634,179 (GRCm39) T510S probably benign Het
Zfp808 A G 13: 62,317,292 (GRCm39) T14A 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
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
R5541:Klrb1a UTSW 6 128,586,699 (GRCm39) missense probably benign 0.01
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'- GCTGTGCCACTAACTGTACTGAGAG -3'
(R):5'- TCTGCCTTCAATGTTCACAACAGGATG -3'

Sequencing Primer
(F):5'- CACTAACTGTACTGAGAGGCAGAC -3'
(R):5'- CACAACAGGATGTTTGTGTTTAC -3'
Posted On 2013-04-24