Incidental Mutation 'R6487:Kics2'
ID 517482
Institutional Source Beutler Lab
Gene Symbol Kics2
Ensembl Gene ENSMUSG00000053684
Gene Name KICSTOR subunit 2
Synonyms BC048403
MMRRC Submission 044619-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R6487 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 121575835-121588770 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121581446 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 13 (L13P)
Ref Sequence ENSEMBL: ENSMUSP00000117249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065600] [ENSMUST00000136432]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000065600
AA Change: L149P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070834
Gene: ENSMUSG00000053684
AA Change: L149P

DomainStartEndE-ValueType
Pfam:DUF2003 7 444 3.8e-252 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000136432
AA Change: L13P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117249
Gene: ENSMUSG00000053684
AA Change: L13P

DomainStartEndE-ValueType
Pfam:DUF2003 1 309 1.1e-205 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,616,446 (GRCm39) Y963H possibly damaging Het
Alpk2 T C 18: 65,399,254 (GRCm39) N2108S possibly damaging Het
Atp13a1 T C 8: 70,252,528 (GRCm39) S641P probably damaging Het
Bptf C T 11: 106,968,552 (GRCm39) V981I probably damaging Het
Cntrl A T 2: 35,012,694 (GRCm39) K277N possibly damaging Het
Cops5 T C 1: 10,108,004 (GRCm39) T12A probably benign Het
Cyp2c37 A T 19: 39,983,025 (GRCm39) T205S probably benign Het
Dnah7c T C 1: 46,808,284 (GRCm39) V3485A probably damaging Het
Ifna6 A T 4: 88,745,743 (GRCm39) N31Y probably damaging Het
Irgm1 C A 11: 48,756,777 (GRCm39) A345S probably benign Het
Med13 T C 11: 86,221,976 (GRCm39) T218A probably damaging Het
Mroh2b G T 15: 4,976,721 (GRCm39) D1225Y probably damaging Het
Npepl1 A G 2: 173,953,525 (GRCm39) E152G probably benign Het
Oog2 A G 4: 143,923,055 (GRCm39) E440G possibly damaging Het
Or4c35 A T 2: 89,808,182 (GRCm39) D20V probably benign Het
Or4k38 T C 2: 111,166,012 (GRCm39) D137G probably benign Het
Or5d41 A G 2: 88,054,870 (GRCm39) S169P possibly damaging Het
Or5h26 A T 16: 58,988,536 (GRCm39) probably null Het
Or8b54 A G 9: 38,686,731 (GRCm39) Y60C probably damaging Het
Ranbp2 T C 10: 58,321,563 (GRCm39) V2620A probably benign Het
Rims4 A T 2: 163,706,817 (GRCm39) F187Y possibly damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Shisa9 C T 16: 12,062,475 (GRCm39) T232I probably benign Het
Slf1 A T 13: 77,214,736 (GRCm39) I650N probably damaging Het
Tpst2 T C 5: 112,455,989 (GRCm39) L176P probably damaging Het
U2surp A T 9: 95,359,565 (GRCm39) M650K probably damaging Het
Vmn1r17 A T 6: 57,338,209 (GRCm39) M3K possibly damaging Het
Vmn1r55 A G 7: 5,149,554 (GRCm39) S290P probably benign Het
Vmn2r102 G A 17: 19,898,169 (GRCm39) E395K probably damaging Het
Wapl T A 14: 34,414,249 (GRCm39) H370Q probably damaging Het
Xab2 T C 8: 3,663,879 (GRCm39) S347G possibly 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
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
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'- TGTCATTTGCTTCCCAGGG -3'
(R):5'- AAAGTGGAGTACAGGGTCCC -3'

Sequencing Primer
(F):5'- GTCATTCTTCAGCAGGAAAGACTC -3'
(R):5'- CAGGGAGGCCTTCCTAAGAG -3'
Posted On 2018-05-21