Incidental Mutation 'IGL02231:Ksr2'
ID285692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ksr2
Ensembl Gene ENSMUSG00000061578
Gene Namekinase suppressor of ras 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.135) question?
Stock #IGL02231
Quality Score
Status
Chromosome5
Chromosomal Location117414000-117775003 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 117500776 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 82 (R82C)
Ref Sequence ENSEMBL: ENSMUSP00000137670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000180430]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000073347
Predicted Effect probably damaging
Transcript: ENSMUST00000180430
AA Change: R82C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137670
Gene: ENSMUSG00000061578
AA Change: R82C

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik G A 11: 78,279,896 G1647D probably benign Het
Alcam T A 16: 52,274,050 probably benign Het
Alox15 A C 11: 70,349,556 D266E probably benign Het
Atcay A T 10: 81,210,548 V314E probably damaging Het
Atp8b1 C T 18: 64,550,384 G758R possibly damaging Het
Cacna2d4 T A 6: 119,277,908 probably benign Het
Celsr3 T C 9: 108,842,510 V2429A probably damaging Het
Clspn T G 4: 126,559,228 D11E probably damaging Het
Cnot3 A G 7: 3,658,210 T573A probably benign Het
Cyp2d34 A T 15: 82,618,606 S140T probably benign Het
Edem1 A G 6: 108,828,888 D50G probably benign Het
Emilin3 G A 2: 160,908,515 T438I probably damaging Het
Etfdh C T 3: 79,618,393 V173I probably damaging Het
Fat2 T C 11: 55,281,092 T2932A probably damaging Het
Fcrl1 G A 3: 87,385,162 E154K possibly damaging Het
Fcrl1 A T 3: 87,385,163 E154V probably damaging Het
G3bp1 T A 11: 55,495,447 L244* probably null Het
Itgae A T 11: 73,090,622 K2M possibly damaging Het
Kcnq2 T C 2: 181,081,715 I654V probably benign Het
Lrig3 A T 10: 125,997,172 D305V probably damaging Het
Me1 T C 9: 86,611,855 K322E possibly damaging Het
Med12l T A 3: 59,245,882 D1109E probably damaging Het
Mest A G 6: 30,740,773 K73E possibly damaging Het
Nup155 T G 15: 8,144,064 L881R probably damaging Het
Ocln A T 13: 100,541,114 S2T probably damaging Het
Oosp3 T C 19: 11,699,439 L54S probably damaging Het
Pkp3 G A 7: 141,084,238 E443K probably damaging Het
Plk2 T A 13: 110,400,069 C632S probably benign Het
Ptk6 C T 2: 181,197,001 V320I probably damaging Het
Ptprt A T 2: 162,238,060 I273N probably damaging Het
Ptprt A G 2: 162,278,046 probably null Het
Rab3gap2 T C 1: 185,266,898 probably benign Het
Rabgef1 G A 5: 130,211,975 A312T probably damaging Het
Rabl6 T A 2: 25,598,184 K109N probably benign Het
Rbp7 C T 4: 149,454,877 probably null Het
Reg3a C T 6: 78,382,241 H75Y possibly damaging Het
Rnf123 G T 9: 108,066,399 P546T probably benign Het
Rnmt C A 18: 68,314,081 C345* probably null Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Slc14a2 C T 18: 78,209,021 S25N possibly damaging Het
Spata16 G T 3: 26,913,264 G388W probably damaging Het
Speg C T 1: 75,423,387 R2493W probably damaging Het
Thada T A 17: 84,428,697 D970V probably damaging Het
Tmem184c A G 8: 77,604,812 Y103H probably damaging Het
Ttn A T 2: 76,798,096 D12827E probably damaging Het
Utp20 A G 10: 88,791,168 L976S probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zfp936 T A 7: 43,187,485 probably null Het
Other mutations in Ksr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02136:Ksr2 APN 5 117616894 missense possibly damaging 0.52
IGL02634:Ksr2 APN 5 117763329 splice site probably benign
IGL02669:Ksr2 APN 5 117555381 missense probably damaging 1.00
IGL03116:Ksr2 APN 5 117707957 missense probably benign 0.20
IGL03168:Ksr2 APN 5 117748781 missense probably damaging 1.00
IGL03372:Ksr2 APN 5 117702718 missense possibly damaging 0.93
gigante UTSW 5 117671449 missense probably damaging 0.99
R0133:Ksr2 UTSW 5 117555294 missense possibly damaging 0.95
R0811:Ksr2 UTSW 5 117555225 missense probably damaging 1.00
R0812:Ksr2 UTSW 5 117555225 missense probably damaging 1.00
R1162:Ksr2 UTSW 5 117554955 splice site probably benign
R1420:Ksr2 UTSW 5 117414839 missense probably benign 0.10
R1717:Ksr2 UTSW 5 117671449 missense probably damaging 0.99
R1809:Ksr2 UTSW 5 117555470 missense probably damaging 1.00
R1859:Ksr2 UTSW 5 117414941 missense probably damaging 1.00
R1867:Ksr2 UTSW 5 117505529 missense probably benign 0.32
R1868:Ksr2 UTSW 5 117505529 missense probably benign 0.32
R3024:Ksr2 UTSW 5 117555060 missense possibly damaging 0.52
R3499:Ksr2 UTSW 5 117689575 missense probably damaging 1.00
R3687:Ksr2 UTSW 5 117554979 missense probably damaging 0.98
R3688:Ksr2 UTSW 5 117554979 missense probably damaging 0.98
R4044:Ksr2 UTSW 5 117555062 nonsense probably null
R4579:Ksr2 UTSW 5 117756270 missense probably damaging 0.99
R4697:Ksr2 UTSW 5 117708147 missense probably damaging 1.00
R4834:Ksr2 UTSW 5 117668327 missense probably benign 0.37
R5016:Ksr2 UTSW 5 117500792 missense probably benign 0.10
R5107:Ksr2 UTSW 5 117689608 missense probably benign 0.01
R5150:Ksr2 UTSW 5 117555009 missense probably damaging 0.97
R5326:Ksr2 UTSW 5 117708240 missense probably damaging 1.00
R5493:Ksr2 UTSW 5 117708110 missense probably damaging 1.00
R5738:Ksr2 UTSW 5 117748799 missense probably damaging 0.97
R6257:Ksr2 UTSW 5 117414844 missense probably benign 0.01
R6316:Ksr2 UTSW 5 117685502 missense probably damaging 1.00
R6389:Ksr2 UTSW 5 117414842 missense probably benign 0.09
R6460:Ksr2 UTSW 5 117756384 critical splice donor site probably null
R6874:Ksr2 UTSW 5 117756336 nonsense probably null
R6939:Ksr2 UTSW 5 117765561 makesense probably null
R7352:Ksr2 UTSW 5 117689641 missense probably benign 0.00
R7594:Ksr2 UTSW 5 117555066 missense possibly damaging 0.89
Z1088:Ksr2 UTSW 5 117747402 missense probably damaging 1.00
Posted On2015-04-16