Incidental Mutation 'R4697:Ksr2'
ID 355763
Institutional Source Beutler Lab
Gene Symbol Ksr2
Ensembl Gene ENSMUSG00000061578
Gene Name kinase suppressor of ras 2
Synonyms
MMRRC Submission 041947-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.187) question?
Stock # R4697 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 117414000-117775003 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 117708147 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 693 (R693Q)
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: R693Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137670
Gene: ENSMUSG00000061578
AA Change: R693Q

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 0.3301 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 96% (75/78)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030624J02Rik T A 7: 118,791,448 I455N probably damaging Het
A2m T C 6: 121,638,284 M1T probably null Het
Aatf T A 11: 84,449,138 D449V probably damaging Het
Acbd3 T A 1: 180,721,944 probably benign Het
BC005561 A G 5: 104,522,240 K1543E probably benign Het
Bicc1 T A 10: 70,953,484 I366F possibly damaging Het
Ccdc74a T C 16: 17,649,749 S184P possibly damaging Het
Cntn4 T C 6: 106,525,485 V401A probably damaging Het
Cux2 T C 5: 121,873,753 T540A probably damaging Het
Disp2 G T 2: 118,791,684 E966* probably null Het
Dpp7 A G 2: 25,354,919 Y209H probably benign Het
Dstyk T A 1: 132,449,487 F277Y probably damaging Het
Dtx1 A T 5: 120,694,408 probably null Het
Ear-ps2 G A 14: 44,047,060 noncoding transcript Het
Ednra T C 8: 77,664,995 H422R probably benign Het
Erlec1 T A 11: 30,952,640 I67F probably benign Het
Fam161b G A 12: 84,348,558 probably benign Het
Gata5 A T 2: 180,327,379 C345* probably null Het
Glmp T C 3: 88,328,274 V47A probably damaging Het
Gm9762 T A 3: 78,966,550 noncoding transcript Het
Gnas A T 2: 174,298,080 D14V probably damaging Het
Gnl3 T C 14: 31,017,329 S53G probably damaging Het
Grhl3 C T 4: 135,548,466 V527M probably damaging Het
Hoxd10 T A 2: 74,694,187 L281* probably null Het
Kif16b T G 2: 142,690,694 Y1175S probably benign Het
Kif2b A G 11: 91,576,846 S204P probably benign Het
Klhl40 T A 9: 121,778,734 I320N probably damaging Het
Mis12 A G 11: 71,025,326 K62E possibly damaging Het
Mlc1 A G 15: 88,974,777 C102R probably damaging Het
Muc5b T C 7: 141,857,361 I1348T unknown Het
Myh7b A G 2: 155,629,322 E1130G probably damaging Het
Nat8f4 T C 6: 85,901,386 T52A probably benign Het
Nxpe2 C A 9: 48,320,521 V379L probably benign Het
Olfr1231 C A 2: 89,302,902 S230I possibly damaging Het
Olfr1231 T A 2: 89,302,903 S230C probably damaging Het
Olfr1448 C T 19: 12,919,934 C125Y probably damaging Het
Olfr1465 A T 19: 13,313,717 D189E probably benign Het
Olfr288 G A 15: 98,186,868 R310W probably damaging Het
Pcdhga7 A T 18: 37,717,208 Y756F probably damaging Het
Pcsk6 T A 7: 65,959,241 Y284N probably damaging Het
Pdcd11 T C 19: 47,126,347 V1367A possibly damaging Het
Postn T A 3: 54,375,071 N484K probably damaging Het
Prkd3 C T 17: 78,961,171 V572I probably benign Het
Qser1 T C 2: 104,787,183 S1005G probably benign Het
Radil G T 5: 142,486,801 D951E probably benign Het
Ripk1 C T 13: 34,027,942 R352* probably null Het
Sacs T C 14: 61,212,747 F4081L probably benign Het
Sbf1 A G 15: 89,315,085 V11A possibly damaging Het
Sgip1 T A 4: 102,934,587 F536I probably damaging Het
Slc45a1 A G 4: 150,638,284 L381P probably damaging Het
Smarcad1 C T 6: 65,052,641 P71L probably benign Het
Spns1 T A 7: 126,377,037 D14V probably damaging Het
Sv2c T A 13: 95,986,018 I417F possibly damaging Het
Tas2r113 T A 6: 132,893,516 M169K probably benign Het
Tgm1 A T 14: 55,705,681 N567K probably benign Het
Tln2 C T 9: 67,395,461 R76Q probably damaging Het
Trpm6 T C 19: 18,853,791 V1340A probably benign Het
Tspan18 A T 2: 93,312,030 probably null Het
Txndc11 C T 16: 11,084,314 V679I probably damaging Het
Usf1 G T 1: 171,416,964 G144V possibly damaging Het
Vmn1r59 T C 7: 5,454,452 Y103C probably damaging Het
Vmn2r23 A T 6: 123,741,826 I713F probably damaging Het
Vmn2r79 A T 7: 87,037,960 I850F probably damaging Het
Wdr90 C T 17: 25,855,363 R676H probably benign Het
Zfp867 G A 11: 59,463,661 R281W probably damaging Het
Zfp939 T C 7: 39,472,942 noncoding transcript Het
Other mutations in Ksr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02136:Ksr2 APN 5 117616894 missense possibly damaging 0.52
IGL02231:Ksr2 APN 5 117500776 missense probably damaging 1.00
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
float UTSW 5 117671458 missense probably damaging 1.00
gigante UTSW 5 117671449 missense probably damaging 0.99
loft UTSW 5 117500792 missense probably benign 0.10
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
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
R7840:Ksr2 UTSW 5 117555264 missense probably benign 0.00
R7919:Ksr2 UTSW 5 117761353 missense possibly damaging 0.86
R8152:Ksr2 UTSW 5 117671458 missense probably damaging 1.00
R8949:Ksr2 UTSW 5 117685495 missense possibly damaging 0.68
R9133:Ksr2 UTSW 5 117703254 missense probably benign 0.02
R9299:Ksr2 UTSW 5 117747334 critical splice acceptor site probably null
R9356:Ksr2 UTSW 5 117689641 missense probably benign 0.40
RF020:Ksr2 UTSW 5 117555218 missense probably benign
Z1088:Ksr2 UTSW 5 117747402 missense probably damaging 1.00
Z1177:Ksr2 UTSW 5 117708200 missense probably damaging 1.00
Z1177:Ksr2 UTSW 5 117747408 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCACAATGAAGCAGAGGAGTCC -3'
(R):5'- TGCACAAAGCCCTTAGATGTTC -3'

Sequencing Primer
(F):5'- GTTTGAAGAGATGAACCTATCCCTCC -3'
(R):5'- AAAGCCCTTAGATGTTCCCATC -3'
Posted On 2015-10-21