Incidental Mutation 'R0381:Kics2'
ID 30977
Institutional Source Beutler Lab
Gene Symbol Kics2
Ensembl Gene ENSMUSG00000053684
Gene Name KICSTOR subunit 2
Synonyms BC048403
MMRRC Submission 038587-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R0381 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 121575835-121588770 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121581280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 94 (Y94H)
Ref Sequence ENSEMBL: ENSMUSP00000070834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065600] [ENSMUST00000136432]
AlphaFold no structure available at present
PDB Structure X-ray structure of a hypothetical protein from Mouse Mm.209172 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000065600
AA Change: Y94H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000070834
Gene: ENSMUSG00000053684
AA Change: Y94H

DomainStartEndE-ValueType
Pfam:DUF2003 7 444 3.8e-252 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136432
SMART Domains Protein: ENSMUSP00000117249
Gene: ENSMUSG00000053684

DomainStartEndE-ValueType
Pfam:DUF2003 1 309 1.1e-205 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 45,757,858 (GRCm39) V1297A possibly damaging Het
Agbl2 C T 2: 90,614,442 (GRCm39) H25Y probably damaging Het
Akap11 A T 14: 78,750,990 (GRCm39) W466R probably benign Het
Ccdc66 T A 14: 27,213,890 (GRCm39) Q471L probably damaging Het
Dennd1c G A 17: 57,380,822 (GRCm39) A210V probably damaging Het
F13b A G 1: 139,438,597 (GRCm39) K334E probably damaging Het
Fam186a A C 15: 99,840,055 (GRCm39) I2063R probably damaging Het
Fcrl5 T C 3: 87,353,767 (GRCm39) Y371H probably damaging Het
Fnbp1 C T 2: 30,923,041 (GRCm39) G549D probably benign Het
Fndc3a A G 14: 72,794,067 (GRCm39) Y869H probably benign Het
Gm7592 A G 1: 85,454,437 (GRCm39) noncoding transcript Het
Gucy2d C A 7: 98,108,209 (GRCm39) probably null Het
Hmcn1 C T 1: 150,479,562 (GRCm39) C4634Y probably damaging Het
Kctd5 A G 17: 24,278,194 (GRCm39) probably null Het
Mettl24 C A 10: 40,622,386 (GRCm39) H203N probably damaging Het
Mitf A G 6: 97,970,104 (GRCm39) E17G probably damaging Het
Mmut T A 17: 41,248,149 (GRCm39) W59R probably benign Het
Mrc1 G A 2: 14,312,720 (GRCm39) D881N probably benign Het
Mrm1 T C 11: 84,709,509 (GRCm39) T183A possibly damaging Het
Mylk G A 16: 34,605,344 (GRCm39) probably null Het
Nab2 G A 10: 127,500,936 (GRCm39) A19V probably damaging Het
Ntsr2 T A 12: 16,709,719 (GRCm39) Y333* probably null Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Sypl2 T C 3: 108,133,473 (GRCm39) E32G possibly damaging Het
Tasp1 T C 2: 139,793,403 (GRCm39) K258E probably damaging Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tenm4 G T 7: 96,555,088 (GRCm39) V2561F probably damaging Het
Tmc1 T C 19: 20,776,409 (GRCm39) Y650C probably damaging Het
Trim34b T C 7: 103,979,062 (GRCm39) L103P probably damaging Het
Usp47 T C 7: 111,662,600 (GRCm39) probably null Het
Vmn1r201 T A 13: 22,659,193 (GRCm39) W136R probably damaging Het
Vmn2r104 A T 17: 20,268,264 (GRCm39) Y68* probably null Het
Wscd2 T A 5: 113,689,192 (GRCm39) L66Q probably damaging Het
Other mutations in Kics2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02164:Kics2 APN 10 121,586,675 (GRCm39) missense probably damaging 1.00
IGL02598:Kics2 APN 10 121,575,876 (GRCm39) utr 5 prime probably benign
IGL02747:Kics2 APN 10 121,581,455 (GRCm39) missense possibly damaging 0.94
R0732:Kics2 UTSW 10 121,586,852 (GRCm39) missense possibly damaging 0.55
R2383:Kics2 UTSW 10 121,586,554 (GRCm39) missense possibly damaging 0.69
R4299:Kics2 UTSW 10 121,581,351 (GRCm39) missense probably benign 0.01
R4760:Kics2 UTSW 10 121,575,912 (GRCm39) missense probably damaging 1.00
R5595:Kics2 UTSW 10 121,576,052 (GRCm39) start gained probably benign
R6184:Kics2 UTSW 10 121,586,810 (GRCm39) missense probably damaging 1.00
R6487:Kics2 UTSW 10 121,581,446 (GRCm39) missense probably damaging 1.00
R6977:Kics2 UTSW 10 121,581,371 (GRCm39) missense probably damaging 0.98
R7094:Kics2 UTSW 10 121,576,098 (GRCm39) missense possibly damaging 0.95
R7250:Kics2 UTSW 10 121,581,376 (GRCm39) missense possibly damaging 0.82
R8186:Kics2 UTSW 10 121,581,247 (GRCm39) missense possibly damaging 0.79
R8554:Kics2 UTSW 10 121,575,960 (GRCm39) missense probably benign
R9005:Kics2 UTSW 10 121,586,501 (GRCm39) missense probably damaging 1.00
R9124:Kics2 UTSW 10 121,586,416 (GRCm39) nonsense probably null
R9245:Kics2 UTSW 10 121,586,273 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCCAGGTCTAGCCTCACACTGATG -3'
(R):5'- ATCCAAGGTGCTGACCAGCTCTTC -3'

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