Incidental Mutation 'IGL02747:Kics2'
ID 306083
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kics2
Ensembl Gene ENSMUSG00000053684
Gene Name KICSTOR subunit 2
Synonyms BC048403
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # IGL02747
Quality Score
Status
Chromosome 10
Chromosomal Location 121575835-121588770 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 121581455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 152 (Q152P)
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 possibly damaging
Transcript: ENSMUST00000065600
AA Change: Q152P

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000070834
Gene: ENSMUSG00000053684
AA Change: Q152P

DomainStartEndE-ValueType
Pfam:DUF2003 7 444 3.8e-252 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000136432
AA Change: Q16P

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117249
Gene: ENSMUSG00000053684
AA Change: Q16P

DomainStartEndE-ValueType
Pfam:DUF2003 1 309 1.1e-205 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,323,282 (GRCm39) L3373* probably null Het
Ap1s3 T C 1: 79,601,409 (GRCm39) Y94C probably damaging Het
Dbx2 T C 15: 95,530,320 (GRCm39) T216A probably benign Het
Dsg4 A G 18: 20,579,995 (GRCm39) R67G probably damaging Het
Eng G A 2: 32,562,970 (GRCm39) probably null Het
Gm28042 T A 2: 119,861,875 (GRCm39) I206N probably damaging Het
Gsdmc4 C T 15: 63,765,720 (GRCm39) M276I probably benign Het
Itih2 A G 2: 10,102,756 (GRCm39) S793P probably benign Het
Kcnj13 T C 1: 87,317,087 (GRCm39) N9D probably benign Het
Krt78 T A 15: 101,858,819 (GRCm39) probably benign Het
Megf10 A G 18: 57,423,565 (GRCm39) K985E probably benign Het
Naa25 A G 5: 121,552,668 (GRCm39) probably benign Het
Or8b3b T C 9: 38,584,380 (GRCm39) Y133C probably benign Het
Plekhm2 T C 4: 141,361,583 (GRCm39) T307A possibly damaging Het
Ppp1cc A G 5: 122,312,136 (GRCm39) K301E probably benign Het
Ralgds T C 2: 28,438,122 (GRCm39) probably benign Het
Rccd1 A T 7: 79,970,238 (GRCm39) D126E probably benign Het
Reps1 T C 10: 17,999,348 (GRCm39) S712P probably damaging Het
Rnf103 T A 6: 71,486,161 (GRCm39) I264N probably damaging Het
Rpap1 A G 2: 119,604,609 (GRCm39) I433T probably damaging Het
Ryr2 T G 13: 11,670,563 (GRCm39) N3478H probably damaging Het
Sox30 A G 11: 45,871,772 (GRCm39) D209G probably benign Het
Sox6 A G 7: 115,088,981 (GRCm39) F628S probably damaging Het
Tas1r3 C T 4: 155,944,917 (GRCm39) G768D possibly damaging Het
Tesk2 T C 4: 116,660,076 (GRCm39) V398A probably benign Het
Tmem135 A T 7: 88,793,878 (GRCm39) I388N probably damaging Het
Tpgs2 A G 18: 25,272,202 (GRCm39) probably benign Het
Vmn2r120 G A 17: 57,831,719 (GRCm39) H357Y probably benign 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
R0381:Kics2 UTSW 10 121,581,280 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16