Incidental Mutation 'R5016:Ksr2'
ID 385570
Institutional Source Beutler Lab
Gene Symbol Ksr2
Ensembl Gene ENSMUSG00000061578
Gene Name kinase suppressor of ras 2
Synonyms
MMRRC Submission 042607-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R5016 (G1)
Quality Score 158
Status Validated
Chromosome 5
Chromosomal Location 117552067-117906061 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 117638857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 87 (D87G)
Ref Sequence ENSEMBL: ENSMUSP00000137670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000180430]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000073347
Predicted Effect probably benign
Transcript: ENSMUST00000180430
AA Change: D87G

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000137670
Gene: ENSMUSG00000061578
AA Change: D87G

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
Meta Mutation Damage Score 0.0817 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.2%
  • 10x: 95.1%
  • 20x: 91.0%
Validation Efficiency 97% (56/58)
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
Abi3bp C T 16: 56,491,631 (GRCm39) P768S probably damaging Het
Adprhl1 A G 8: 13,274,889 (GRCm39) L623P possibly damaging Het
Anapc1 A T 2: 128,449,095 (GRCm39) probably benign Het
Ankzf1 C A 1: 75,172,622 (GRCm39) probably benign Het
Ash1l A G 3: 88,889,630 (GRCm39) D503G probably damaging Het
Atp7b T C 8: 22,505,885 (GRCm39) probably null Het
Bach1 T A 16: 87,516,206 (GRCm39) V249D possibly damaging Het
Ccdc158 A G 5: 92,805,751 (GRCm39) S335P probably benign Het
Chd9 T A 8: 91,733,254 (GRCm39) C1374* probably null Het
Col16a1 C T 4: 129,972,988 (GRCm39) T643M probably benign Het
Cygb A G 11: 116,540,840 (GRCm39) F49L probably benign Het
Dnah17 G C 11: 117,971,592 (GRCm39) T2147S probably damaging Het
Drd3 C A 16: 43,582,609 (GRCm39) A34E possibly damaging Het
Ephb6 G A 6: 41,595,041 (GRCm39) R685Q probably benign Het
Ezh1 G A 11: 101,090,063 (GRCm39) probably benign Het
Gpr19 T A 6: 134,846,880 (GRCm39) K231* probably null Het
Gpr61 A G 3: 108,057,983 (GRCm39) V226A possibly damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hnrnpul2 A G 19: 8,800,189 (GRCm39) K185R possibly damaging Het
Igsf9 A C 1: 172,318,279 (GRCm39) T140P probably damaging Het
Llgl2 A G 11: 115,744,250 (GRCm39) E843G probably damaging Het
Ltbp4 GT G 7: 27,027,110 (GRCm39) probably null Het
Luc7l2 A G 6: 38,562,036 (GRCm39) I20V possibly damaging Het
Mcm6 G A 1: 128,271,164 (GRCm39) T485M probably damaging Het
Miox A G 15: 89,219,767 (GRCm39) D85G probably null Het
Nudt18 T C 14: 70,816,903 (GRCm39) F169S probably benign Het
Nxpe4 A G 9: 48,304,185 (GRCm39) N91D probably benign Het
Or13c7 T C 4: 43,854,596 (GRCm39) S96P probably benign Het
Or6c215 A G 10: 129,637,662 (GRCm39) V244A probably benign Het
Or8k39 T G 2: 86,563,090 (GRCm39) I289L probably benign Het
Pdss2 G T 10: 43,098,001 (GRCm39) A82S probably damaging Het
Ptprs T C 17: 56,726,070 (GRCm39) D998G probably damaging Het
Rasd2 C A 8: 75,948,603 (GRCm39) N176K probably damaging Het
Serpinb3a A G 1: 106,974,060 (GRCm39) F284L probably damaging Het
Skint6 T A 4: 113,028,730 (GRCm39) probably null Het
Slc12a6 C T 2: 112,186,972 (GRCm39) probably benign Het
Slc22a19 G A 19: 7,651,737 (GRCm39) T490M probably benign Het
Sp2 A T 11: 96,846,658 (GRCm39) C562S probably damaging Het
Specc1 A G 11: 62,009,783 (GRCm39) E433G possibly damaging Het
Sspo C T 6: 48,429,214 (GRCm39) Q451* probably null Het
St6galnac1 A T 11: 116,656,706 (GRCm39) S478T probably damaging Het
Steap4 C T 5: 8,026,699 (GRCm39) R221* probably null Het
Ugt1a5 C G 1: 88,093,963 (GRCm39) R64G probably benign Het
Vmn1r202 A T 13: 22,686,375 (GRCm39) F14Y probably damaging Het
Vmn2r79 T C 7: 86,686,548 (GRCm39) V643A probably benign Het
Vmn2r91 C A 17: 18,330,322 (GRCm39) Y535* probably null Het
Wdr3 A T 3: 100,048,936 (GRCm39) probably benign Het
Wdr95 T C 5: 149,468,266 (GRCm39) M41T probably benign 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
IGL03168:Ksr2 APN 5 117,886,846 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TTACGATACAGAGTTGGCTGCG -3'
(R):5'- AGAGATCCTGTGAGCTTTGATCC -3'

Sequencing Primer
(F):5'- CGGTTAGCAGGCGATATCAG -3'
(R):5'- ACTGAAGACCTACTGTGTGC -3'
Posted On 2016-05-10