Incidental Mutation 'R7697:Klrb1c'
ID 593709
Institutional Source Beutler Lab
Gene Symbol Klrb1c
Ensembl Gene ENSMUSG00000030325
Gene Name killer cell lectin-like receptor subfamily B member 1C
Synonyms Ly55c, Nk1.1, Ly59, Nk-1, Nkrp1-c, Nk1, CD161, Nk-1.2, Ly-59, NKR-P1, NK-RP1, NK-1.1, NKR-P1C
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R7697 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 128755448-128765514 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128757273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 264 (H264R)
Ref Sequence ENSEMBL: ENSMUSP00000134504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167691] [ENSMUST00000174404] [ENSMUST00000174865] [ENSMUST00000204394] [ENSMUST00000204423] [ENSMUST00000204677] [ENSMUST00000204756]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000167691
AA Change: H261R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000127297
Gene: ENSMUSG00000030325
AA Change: H261R

DomainStartEndE-ValueType
transmembrane domain 87 109 N/A INTRINSIC
CLECT 139 256 1.65e-25 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000134184
Gene: ENSMUSG00000030325
AA Change: H211R

DomainStartEndE-ValueType
transmembrane domain 41 63 N/A INTRINSIC
CLECT 90 207 1.65e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174404
AA Change: H264R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000134504
Gene: ENSMUSG00000030325
AA Change: H264R

DomainStartEndE-ValueType
transmembrane domain 87 109 N/A INTRINSIC
CLECT 142 259 1.65e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174865
SMART Domains Protein: ENSMUSP00000134055
Gene: ENSMUSG00000030325

DomainStartEndE-ValueType
transmembrane domain 76 98 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204394
AA Change: H216R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000145481
Gene: ENSMUSG00000107872
AA Change: H216R

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
CLECT 94 211 8.5e-28 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204423
AA Change: H216R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000145327
Gene: ENSMUSG00000107872
AA Change: H216R

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
CLECT 94 211 8.7e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204677
SMART Domains Protein: ENSMUSP00000145287
Gene: ENSMUSG00000107872

DomainStartEndE-ValueType
transmembrane domain 44 66 N/A INTRINSIC
PDB:3M9Z|A 89 144 2e-30 PDB
SCOP:d1e87a_ 94 143 2e-12 SMART
Blast:CLECT 94 144 3e-30 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000204756
SMART Domains Protein: ENSMUSP00000144777
Gene: ENSMUSG00000107872

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
CLECT 85 185 1e-14 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: This locus controls an antigen on natural killer cells. The a allele determines the Nk1.1 antigen in strains CE, C57BL/6, C57BR/cd, C57L, C58, DBA/1, MA/My, NZB, SJL, SM and B10.D2. The b allele determines the Nk1.2 antigen in strains CBA/J, BALB/c, C3H/He, A/J, DBA/2, LP and 129. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd4 T C 14: 54,500,216 (GRCm39) V87A probably damaging Het
Acadsb A G 7: 131,031,698 (GRCm39) E178G probably damaging Het
Acoxl A G 2: 127,820,702 (GRCm39) T365A probably benign Het
Adcy8 T G 15: 64,618,850 (GRCm39) I768L probably benign Het
Bloc1s4 A G 5: 36,905,959 (GRCm39) S11P probably benign Het
Brinp2 T C 1: 158,095,496 (GRCm39) I122V probably benign Het
Brwd1 T C 16: 95,847,601 (GRCm39) D673G probably benign Het
Cbx8 C A 11: 118,931,637 (GRCm39) E14* probably null Het
Cep295 T A 9: 15,266,006 (GRCm39) M49L probably benign Het
Cfap157 T C 2: 32,669,765 (GRCm39) N273D probably benign Het
Cntn3 A T 6: 102,185,127 (GRCm39) V663E probably damaging Het
Cntn3 C T 6: 102,185,128 (GRCm39) V663M probably damaging Het
Cspg5 G C 9: 110,085,294 (GRCm39) R488S probably damaging Het
Csrnp2 A T 15: 100,385,953 (GRCm39) M95K probably damaging Het
Dnah3 A T 7: 119,566,657 (GRCm39) V136E Het
Drg2 T A 11: 60,353,003 (GRCm39) I212N probably damaging Het
Egfem1 T C 3: 29,744,346 (GRCm39) probably null Het
Eif1ad18 T C 12: 88,050,749 (GRCm39) Y95H probably damaging Het
Enpep T A 3: 129,102,750 (GRCm39) D402V probably damaging Het
Fanci T A 7: 79,056,040 (GRCm39) probably null Het
Fgd6 T A 10: 93,881,306 (GRCm39) V720D probably damaging Het
Fhod1 T A 8: 106,074,563 (GRCm39) probably benign Het
Flnc T A 6: 29,456,516 (GRCm39) I2238N probably damaging Het
Frmd4a A G 2: 4,488,892 (GRCm39) E79G probably damaging Het
Gabrr2 A T 4: 33,071,358 (GRCm39) Y66F probably benign Het
Ggnbp1 T G 17: 27,249,736 (GRCm39) I192S probably benign Het
Gm32742 C T 9: 51,058,901 (GRCm39) V1039I probably benign Het
H2-D1 T C 17: 35,482,121 (GRCm39) L11P probably damaging Het
Hsd17b4 A G 18: 50,263,208 (GRCm39) Y25C probably damaging Het
Ildr2 C A 1: 166,122,300 (GRCm39) Q248K probably benign Het
Lrp11 C T 10: 7,479,983 (GRCm39) A346V probably benign Het
Mast4 G A 13: 102,875,711 (GRCm39) P1319L probably damaging Het
Mcm9 A C 10: 53,491,990 (GRCm39) F392V Het
Med12l C T 3: 59,148,078 (GRCm39) A965V probably damaging Het
Mrps7 A G 11: 115,495,701 (GRCm39) T80A probably benign Het
Mtor T A 4: 148,624,765 (GRCm39) Y2125* probably null Het
Myoc A G 1: 162,475,049 (GRCm39) E200G probably damaging Het
Natd1 A G 11: 60,797,808 (GRCm39) V39A probably damaging Het
Notch4 C T 17: 34,789,159 (GRCm39) T486I probably damaging Het
Or10am5 T C 7: 6,517,645 (GRCm39) Y261C probably damaging Het
Or10n1 A G 9: 39,525,157 (GRCm39) Q98R probably damaging Het
Or2c1 G A 16: 3,657,430 (GRCm39) V198M probably damaging Het
Or5aq6 T A 2: 86,923,162 (GRCm39) H193L probably benign Het
Pdss2 T A 10: 43,221,544 (GRCm39) I152N probably damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Plec T C 15: 76,065,885 (GRCm39) E1395G unknown Het
Polr2b T C 5: 77,468,059 (GRCm39) Y120H probably damaging Het
Pyroxd2 C T 19: 42,735,805 (GRCm39) C99Y probably benign Het
Rela T C 19: 5,691,630 (GRCm39) V268A probably damaging Het
Rgs3 C T 4: 62,575,379 (GRCm39) P589S probably benign Het
Rtn1 A G 12: 72,455,151 (GRCm39) S59P probably benign Het
Siae A G 9: 37,544,950 (GRCm39) Y315C probably damaging Het
Susd3 C A 13: 49,391,074 (GRCm39) W147L probably damaging Het
Ttn A T 2: 76,702,047 (GRCm39) probably null Het
Ubr3 A G 2: 69,728,030 (GRCm39) Y131C probably damaging Het
Unc80 C T 1: 66,677,104 (GRCm39) P2011L possibly damaging Het
Usp9y T C Y: 1,316,990 (GRCm39) E1853G possibly damaging Het
Wls C A 3: 159,616,955 (GRCm39) H331Q probably benign Het
Xkr6 C A 14: 63,844,628 (GRCm39) P217Q probably damaging Het
Other mutations in Klrb1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02636:Klrb1c APN 6 128,765,515 (GRCm39) missense probably benign 0.01
Eccentric UTSW 6 128,761,702 (GRCm39) missense possibly damaging 0.88
Freakish UTSW 6 128,761,148 (GRCm39) missense probably benign 0.38
Unnatural UTSW 6 128,761,174 (GRCm39) missense probably benign 0.09
wacky UTSW 6 128,757,306 (GRCm39) missense probably damaging 1.00
Weird UTSW 6 128,761,220 (GRCm39) missense probably benign 0.00
Wild UTSW 6 128,762,968 (GRCm39) missense probably benign 0.09
R0463:Klrb1c UTSW 6 128,757,366 (GRCm39) missense probably benign 0.07
R3157:Klrb1c UTSW 6 128,761,702 (GRCm39) missense possibly damaging 0.88
R3779:Klrb1c UTSW 6 128,757,306 (GRCm39) missense probably damaging 1.00
R5111:Klrb1c UTSW 6 128,762,968 (GRCm39) missense probably benign 0.09
R5149:Klrb1c UTSW 6 128,760,670 (GRCm39) missense probably benign 0.07
R5196:Klrb1c UTSW 6 128,757,262 (GRCm39) missense probably benign 0.00
R5568:Klrb1c UTSW 6 128,765,877 (GRCm39) intron probably benign
R5620:Klrb1c UTSW 6 128,761,706 (GRCm39) missense possibly damaging 0.67
R6000:Klrb1c UTSW 6 128,761,120 (GRCm39) missense probably damaging 1.00
R6483:Klrb1c UTSW 6 128,761,148 (GRCm39) missense probably benign 0.38
R6854:Klrb1c UTSW 6 128,765,381 (GRCm39) missense possibly damaging 0.87
R7283:Klrb1c UTSW 6 128,761,220 (GRCm39) missense probably benign 0.00
R7946:Klrb1c UTSW 6 128,766,072 (GRCm39) intron probably benign
R8789:Klrb1c UTSW 6 128,761,148 (GRCm39) missense probably benign 0.38
R9665:Klrb1c UTSW 6 128,760,625 (GRCm39) critical splice donor site probably null
Z1177:Klrb1c UTSW 6 128,765,410 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTACCAGGGCTTCTTTGC -3'
(R):5'- GATGGCCAACTCAGGAGAATTATAG -3'

Sequencing Primer
(F):5'- ACCAGGGCTTCTTTGCATAGAAC -3'
(R):5'- TAGAAAATCCTAAACACTAAGGGCG -3'
Posted On 2019-11-12