Incidental Mutation 'R5630:Klrb1a'
ID 501352
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 043281-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5630 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 128586190-128599897 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 128595573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 60 (D60E)
Ref Sequence ENSEMBL: ENSMUSP00000132390 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032512] [ENSMUST00000171306] [ENSMUST00000203150] [ENSMUST00000203275] [ENSMUST00000204819]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032512
AA Change: D93E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000032512
Gene: ENSMUSG00000030361
AA Change: D93E

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 100 217 1.52e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171306
AA Change: D60E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000132390
Gene: ENSMUSG00000030361
AA Change: D60E

DomainStartEndE-ValueType
CLECT 67 184 1.52e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203150
SMART Domains Protein: ENSMUSP00000144707
Gene: ENSMUSG00000030361

DomainStartEndE-ValueType
transmembrane domain 51 73 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203275
SMART Domains Protein: ENSMUSP00000145086
Gene: ENSMUSG00000030361

DomainStartEndE-ValueType
transmembrane domain 39 61 N/A INTRINSIC
CLECT 88 205 7.6e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204819
SMART Domains Protein: ENSMUSP00000145519
Gene: ENSMUSG00000030361

DomainStartEndE-ValueType
transmembrane domain 45 67 N/A INTRINSIC
CLECT 97 214 7.6e-27 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3s2 A T 7: 79,559,647 (GRCm39) V94E probably damaging Het
Aven T A 2: 112,344,890 (GRCm39) Y109* probably null Het
Cad T C 5: 31,217,917 (GRCm39) S401P probably damaging Het
Ccdc122 A T 14: 77,330,216 (GRCm39) I189F probably damaging Het
Cdkal1 A T 13: 29,961,198 (GRCm39) probably null Het
Clock G A 5: 76,378,185 (GRCm39) P572S probably benign Het
Cnih4 C G 1: 180,989,748 (GRCm39) F120L probably benign Het
Cntnap5b A G 1: 99,999,794 (GRCm39) D184G probably damaging Het
Cpa2 T A 6: 30,550,731 (GRCm39) probably null Het
Cpne5 T C 17: 29,445,190 (GRCm39) D38G probably damaging Het
Dst GGAATCGTGCACTCGAA GGAA 1: 34,227,866 (GRCm39) probably null Het
E330034G19Rik A G 14: 24,358,336 (GRCm39) probably benign Het
Flrt1 A T 19: 7,073,830 (GRCm39) I239N probably damaging Het
Foxb1 T A 9: 69,667,402 (GRCm39) I43F probably damaging Het
Kcnq3 A G 15: 65,896,971 (GRCm39) W310R probably damaging Het
Lbr A G 1: 181,644,529 (GRCm39) probably null Het
Lsm8 T A 6: 18,851,672 (GRCm39) I41N probably damaging Het
Mroh7 T C 4: 106,577,764 (GRCm39) M305V possibly damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Or5p4 T A 7: 107,680,323 (GRCm39) F107L probably benign Het
Or8c10 T C 9: 38,279,402 (GRCm39) Y177H probably damaging Het
Or8g20 T A 9: 39,396,247 (GRCm39) M98L probably benign Het
Pcdhb5 A T 18: 37,454,208 (GRCm39) D196V possibly damaging Het
Pcmt1 A G 10: 7,524,857 (GRCm39) Y84H probably damaging Het
Pcnx2 A T 8: 126,587,697 (GRCm39) I877K probably damaging Het
Pcsk5 A G 19: 17,553,195 (GRCm39) Y662H probably benign Het
Prdx1 T A 4: 116,556,414 (GRCm39) D187E probably benign Het
Ranbp2 T G 10: 58,314,898 (GRCm39) Y1873D probably damaging Het
Rcor2 A T 19: 7,248,416 (GRCm39) R144W probably damaging Het
Rptor T G 11: 119,647,075 (GRCm39) I222S probably benign Het
Rrp8 C A 7: 105,382,608 (GRCm39) R448L possibly damaging Het
Ryr2 A T 13: 11,616,691 (GRCm39) I3909N probably damaging Het
Scn2a T G 2: 65,556,709 (GRCm39) V1147G probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Smox C T 2: 131,366,786 (GRCm39) Q582* probably null Het
Sqor T A 2: 122,651,277 (GRCm39) L180H possibly damaging Het
Stox2 T C 8: 47,644,925 (GRCm39) D845G probably damaging Het
Szt2 T C 4: 118,250,102 (GRCm39) I469V possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tox C CTGGAGT 4: 6,688,835 (GRCm39) probably benign Het
Trgc2 A G 13: 19,489,279 (GRCm39) F151S possibly damaging Het
Upf2 T C 2: 6,032,112 (GRCm39) V141A probably damaging Het
Usp54 A G 14: 20,615,125 (GRCm39) L772P probably damaging Het
Vmn2r83 A T 10: 79,327,785 (GRCm39) T798S possibly damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Zfp143 C T 7: 109,687,980 (GRCm39) T473I 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
R5541:Klrb1a UTSW 6 128,586,699 (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'- AGCTTCCATAATGCAAAGTCTCC -3'
(R):5'- GGGATGCTAGCATACTTGATCATTAAC -3'

Sequencing Primer
(F):5'- GTCTCCACTTTCTTAGAAGAACATGC -3'
(R):5'- CTTAAGAAAACGCTGTGTCAAAC -3'
Posted On 2017-12-01