Incidental Mutation 'IGL03168:Ksr2'
ID 411709
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ksr2
Ensembl Gene ENSMUSG00000061578
Gene Name kinase suppressor of ras 2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # IGL03168
Quality Score
Status
Chromosome 5
Chromosomal Location 117552067-117906061 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117886846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 794 (F794S)
Ref Sequence ENSEMBL: ENSMUSP00000137670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000180430]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000180430
AA Change: F794S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137670
Gene: ENSMUSG00000061578
AA Change: F794S

DomainStartEndE-ValueType
Pfam:KSR1-SAM 24 152 1.1e-45 PFAM
low complexity region 258 282 N/A INTRINSIC
low complexity region 326 341 N/A INTRINSIC
low complexity region 357 368 N/A INTRINSIC
C1 412 457 2.74e-8 SMART
low complexity region 518 551 N/A INTRINSIC
low complexity region 617 637 N/A INTRINSIC
Pfam:Pkinase 667 929 1.1e-41 PFAM
Pfam:Pkinase_Tyr 667 929 1.8e-46 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mice exhibit increased body fat and obesity, resulting from hyperphagia. Mice are also glucose intolerant and have high serum cholesterol, ALT, serum lipids and show hepatic steatosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c6 T C 13: 4,486,280 (GRCm39) V29A probably benign Het
Ankk1 C A 9: 49,327,068 (GRCm39) A704S possibly damaging Het
Aph1c G A 9: 66,740,619 (GRCm39) probably benign Het
Arglu1 T A 8: 8,733,960 (GRCm39) I119L probably benign Het
Brwd1 A T 16: 95,818,877 (GRCm39) S1318R possibly damaging Het
Calhm4 C T 10: 33,917,552 (GRCm39) V300I probably benign Het
Chd3 A G 11: 69,239,741 (GRCm39) probably benign Het
Colq T C 14: 31,246,377 (GRCm39) Y445C probably damaging Het
Cyp2a4 A T 7: 26,012,975 (GRCm39) probably benign Het
Cyp2j7 C T 4: 96,118,274 (GRCm39) M106I probably benign Het
Erfe T G 1: 91,299,164 (GRCm39) N302K probably damaging Het
Fggy A T 4: 95,815,046 (GRCm39) probably benign Het
Gata3 A G 2: 9,873,625 (GRCm39) Y290H probably damaging Het
Grik4 T C 9: 42,582,539 (GRCm39) T136A probably damaging Het
Hc G T 2: 34,914,210 (GRCm39) N832K probably benign Het
Jhy A T 9: 40,828,848 (GRCm39) S353T possibly damaging Het
Krt40 T A 11: 99,433,854 (GRCm39) Q44L possibly damaging Het
Or2l13 A T 16: 19,305,969 (GRCm39) H127L probably benign Het
Or2n1e A C 17: 38,585,682 (GRCm39) S7R probably damaging Het
Or4p7 A G 2: 88,221,938 (GRCm39) M116V probably damaging Het
Or5ac16 A G 16: 59,022,610 (GRCm39) Y60H probably damaging Het
Or5t9 A G 2: 86,659,607 (GRCm39) I170M possibly damaging Het
Or8b1c A G 9: 38,384,315 (GRCm39) T91A probably benign Het
Pcdhb17 A G 18: 37,618,825 (GRCm39) E205G probably benign Het
Pon3 A T 6: 5,256,177 (GRCm39) I17K possibly damaging Het
Prkd2 A G 7: 16,584,188 (GRCm39) D347G possibly damaging Het
Prkdc A G 16: 15,652,030 (GRCm39) I3806V probably benign Het
Qpct C A 17: 79,359,753 (GRCm39) A20E unknown Het
Rap1a A G 3: 105,657,587 (GRCm39) S11P probably damaging Het
Rnf145 C A 11: 44,445,985 (GRCm39) T273K probably damaging Het
Speg T C 1: 75,364,831 (GRCm39) I298T probably damaging Het
Syt6 G A 3: 103,494,943 (GRCm39) V303M probably damaging Het
Tpr A G 1: 150,284,508 (GRCm39) I324M probably benign Het
Uggt2 A G 14: 119,315,080 (GRCm39) F330L probably damaging Het
Unc45a A T 7: 79,982,881 (GRCm39) L348Q probably damaging Het
Vmn1r17 T A 6: 57,337,583 (GRCm39) I212F probably benign Het
Vmn2r68 A C 7: 84,870,972 (GRCm39) N770K probably damaging Het
Zfhx3 T C 8: 109,673,132 (GRCm39) V1394A probably damaging Het
Other mutations in Ksr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02136:Ksr2 APN 5 117,754,959 (GRCm39) missense possibly damaging 0.52
IGL02231:Ksr2 APN 5 117,638,841 (GRCm39) missense probably damaging 1.00
IGL02634:Ksr2 APN 5 117,901,394 (GRCm39) splice site probably benign
IGL02669:Ksr2 APN 5 117,693,446 (GRCm39) missense probably damaging 1.00
IGL03116:Ksr2 APN 5 117,846,022 (GRCm39) missense probably benign 0.20
IGL03372:Ksr2 APN 5 117,840,783 (GRCm39) missense possibly damaging 0.93
float UTSW 5 117,809,523 (GRCm39) missense probably damaging 1.00
gigante UTSW 5 117,809,514 (GRCm39) missense probably damaging 0.99
loft UTSW 5 117,638,857 (GRCm39) missense probably benign 0.10
R0133:Ksr2 UTSW 5 117,693,359 (GRCm39) missense possibly damaging 0.95
R0811:Ksr2 UTSW 5 117,693,290 (GRCm39) missense probably damaging 1.00
R0812:Ksr2 UTSW 5 117,693,290 (GRCm39) missense probably damaging 1.00
R1162:Ksr2 UTSW 5 117,693,020 (GRCm39) splice site probably benign
R1420:Ksr2 UTSW 5 117,552,904 (GRCm39) missense probably benign 0.10
R1717:Ksr2 UTSW 5 117,809,514 (GRCm39) missense probably damaging 0.99
R1809:Ksr2 UTSW 5 117,693,535 (GRCm39) missense probably damaging 1.00
R1859:Ksr2 UTSW 5 117,553,006 (GRCm39) missense probably damaging 1.00
R1867:Ksr2 UTSW 5 117,643,594 (GRCm39) missense probably benign 0.32
R1868:Ksr2 UTSW 5 117,643,594 (GRCm39) missense probably benign 0.32
R3024:Ksr2 UTSW 5 117,693,125 (GRCm39) missense possibly damaging 0.52
R3499:Ksr2 UTSW 5 117,827,640 (GRCm39) missense probably damaging 1.00
R3687:Ksr2 UTSW 5 117,693,044 (GRCm39) missense probably damaging 0.98
R3688:Ksr2 UTSW 5 117,693,044 (GRCm39) missense probably damaging 0.98
R4044:Ksr2 UTSW 5 117,693,127 (GRCm39) nonsense probably null
R4579:Ksr2 UTSW 5 117,894,335 (GRCm39) missense probably damaging 0.99
R4697:Ksr2 UTSW 5 117,846,212 (GRCm39) missense probably damaging 1.00
R4834:Ksr2 UTSW 5 117,806,392 (GRCm39) missense probably benign 0.37
R5016:Ksr2 UTSW 5 117,638,857 (GRCm39) missense probably benign 0.10
R5107:Ksr2 UTSW 5 117,827,673 (GRCm39) missense probably benign 0.01
R5150:Ksr2 UTSW 5 117,693,074 (GRCm39) missense probably damaging 0.97
R5326:Ksr2 UTSW 5 117,846,305 (GRCm39) missense probably damaging 1.00
R5493:Ksr2 UTSW 5 117,846,175 (GRCm39) missense probably damaging 1.00
R5738:Ksr2 UTSW 5 117,886,864 (GRCm39) missense probably damaging 0.97
R6257:Ksr2 UTSW 5 117,552,909 (GRCm39) missense probably benign 0.01
R6316:Ksr2 UTSW 5 117,823,567 (GRCm39) missense probably damaging 1.00
R6389:Ksr2 UTSW 5 117,552,907 (GRCm39) missense probably benign 0.09
R6460:Ksr2 UTSW 5 117,894,449 (GRCm39) critical splice donor site probably null
R6874:Ksr2 UTSW 5 117,894,401 (GRCm39) nonsense probably null
R6939:Ksr2 UTSW 5 117,903,626 (GRCm39) makesense probably null
R7352:Ksr2 UTSW 5 117,827,706 (GRCm39) missense probably benign 0.00
R7594:Ksr2 UTSW 5 117,693,131 (GRCm39) missense possibly damaging 0.89
R7840:Ksr2 UTSW 5 117,693,329 (GRCm39) missense probably benign 0.00
R7919:Ksr2 UTSW 5 117,899,418 (GRCm39) missense possibly damaging 0.86
R8152:Ksr2 UTSW 5 117,809,523 (GRCm39) missense probably damaging 1.00
R8949:Ksr2 UTSW 5 117,823,560 (GRCm39) missense possibly damaging 0.68
R9133:Ksr2 UTSW 5 117,841,319 (GRCm39) missense probably benign 0.02
R9299:Ksr2 UTSW 5 117,885,399 (GRCm39) critical splice acceptor site probably null
R9356:Ksr2 UTSW 5 117,827,706 (GRCm39) missense probably benign 0.40
R9592:Ksr2 UTSW 5 117,894,344 (GRCm39) missense probably damaging 1.00
R9658:Ksr2 UTSW 5 117,885,425 (GRCm39) missense probably damaging 1.00
RF020:Ksr2 UTSW 5 117,693,283 (GRCm39) missense probably benign
Z1088:Ksr2 UTSW 5 117,885,467 (GRCm39) missense probably damaging 1.00
Z1177:Ksr2 UTSW 5 117,885,473 (GRCm39) missense probably damaging 0.99
Z1177:Ksr2 UTSW 5 117,846,265 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02