Incidental Mutation 'R2095:Frs2'
ID 232058
Institutional Source Beutler Lab
Gene Symbol Frs2
Ensembl Gene ENSMUSG00000020170
Gene Name fibroblast growth factor receptor substrate 2
Synonyms Frs2alpha, SNT1, C330018A15Rik
MMRRC Submission 040099-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2095 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 116905332-116984439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116910507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 285 (E285G)
Ref Sequence ENSEMBL: ENSMUSP00000020381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020381]
AlphaFold Q8C180
Predicted Effect probably benign
Transcript: ENSMUST00000020381
AA Change: E285G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000020381
Gene: ENSMUSG00000020170
AA Change: E285G

DomainStartEndE-ValueType
IRS 17 110 2.04e-34 SMART
PTBI 18 110 5.71e-35 SMART
low complexity region 130 139 N/A INTRINSIC
low complexity region 450 468 N/A INTRINSIC
Meta Mutation Damage Score 0.0649 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (58/60)
MGI Phenotype PHENOTYPE: Homozygous null mice exhibit embryonic lethality between E5.75 and E8 and defects in primitive streak formation and anterior-posterior axis formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik C A 4: 122,596,151 (GRCm39) Y127* probably null Het
Adam33 C T 2: 130,895,629 (GRCm39) G562D probably damaging Het
Adh1 T C 3: 137,988,557 (GRCm39) F177L probably damaging Het
Arhgef17 T C 7: 100,530,470 (GRCm39) T1439A probably damaging Het
Arl5c C T 11: 97,884,277 (GRCm39) E105K probably damaging Het
Armc3 T A 2: 19,293,740 (GRCm39) D510E possibly damaging Het
Bbx T C 16: 50,045,052 (GRCm39) E395G possibly damaging Het
Cacna2d2 G A 9: 107,404,364 (GRCm39) E1087K probably benign Het
Casq1 T C 1: 172,043,529 (GRCm39) N113S probably benign Het
Cbfa2t3 A G 8: 123,361,727 (GRCm39) S432P probably benign Het
Ccn2 T C 10: 24,472,377 (GRCm39) V140A probably benign Het
Cd163 A G 6: 124,294,781 (GRCm39) D615G probably damaging Het
Chrnb2 A T 3: 89,668,744 (GRCm39) D190E probably benign Het
Clec9a T C 6: 129,393,321 (GRCm39) L115P possibly damaging Het
Cluh C T 11: 74,552,550 (GRCm39) R532* probably null Het
Cntnap5a T A 1: 116,369,990 (GRCm39) L869Q probably damaging Het
Cyp3a57 A T 5: 145,305,944 (GRCm39) K143* probably null Het
Dcaf12 G T 4: 41,294,085 (GRCm39) H351N probably benign Het
Dtna T A 18: 23,702,805 (GRCm39) L112Q probably damaging Het
Fnta G A 8: 26,489,907 (GRCm39) Q303* probably null Het
Gabra4 T C 5: 71,781,455 (GRCm39) I293V probably damaging Het
Gm2431 A T 7: 141,811,518 (GRCm39) C129S unknown Het
Gnl2 C T 4: 124,928,111 (GRCm39) R49C probably damaging Het
Helz T A 11: 107,536,972 (GRCm39) Y275N probably damaging Het
Hydin A G 8: 111,189,289 (GRCm39) E1231G probably damaging Het
Kctd11 T A 11: 69,770,402 (GRCm39) D212V probably damaging Het
Klf3 T A 5: 64,979,245 (GRCm39) M29K probably benign Het
Klhl21 T C 4: 152,093,850 (GRCm39) S151P probably benign Het
Lsm14b A T 2: 179,673,580 (GRCm39) probably benign Het
Mlxipl T C 5: 135,150,974 (GRCm39) probably benign Het
Mov10 G A 3: 104,708,847 (GRCm39) R389C probably damaging Het
Msh6 A G 17: 88,295,661 (GRCm39) M1071V possibly damaging Het
Myh8 G T 11: 67,177,050 (GRCm39) A401S probably benign Het
Ndufv3 T C 17: 31,746,460 (GRCm39) S117P possibly damaging Het
Obscn A T 11: 58,984,410 (GRCm39) probably null Het
Or1e22 T A 11: 73,377,420 (GRCm39) T77S probably damaging Het
Or2l13 T C 16: 19,305,681 (GRCm39) I31T probably benign Het
Or4c11c T C 2: 88,661,634 (GRCm39) Y58H probably damaging Het
Or8g50 T A 9: 39,648,557 (GRCm39) Y149N probably damaging Het
Pcdhb17 T A 18: 37,619,375 (GRCm39) D388E probably benign Het
Pgm3 T C 9: 86,438,394 (GRCm39) T423A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
S1pr5 T A 9: 21,156,154 (GRCm39) T91S probably benign Het
Sgcz T C 8: 38,007,546 (GRCm39) probably benign Het
Slc33a1 A G 3: 63,871,376 (GRCm39) L79P probably damaging Het
Slco2a1 A G 9: 102,954,167 (GRCm39) T383A probably benign Het
Slit1 G A 19: 41,594,819 (GRCm39) R1184W probably damaging Het
Spta1 T A 1: 174,071,764 (GRCm39) M2248K possibly damaging Het
Stub1 A G 17: 26,049,864 (GRCm39) Y304H probably damaging Het
Taar7e T A 10: 23,913,949 (GRCm39) Y146* probably null Het
Tbc1d1 C T 5: 64,473,844 (GRCm39) S660L probably benign Het
Tcea2 C A 2: 181,328,725 (GRCm39) F259L probably damaging Het
Tcp11l1 T A 2: 104,512,185 (GRCm39) K482N probably damaging Het
Trpv6 C T 6: 41,598,690 (GRCm39) R645Q probably damaging Het
Uaca T A 9: 60,748,125 (GRCm39) S30T probably benign Het
Ubap2 C G 4: 41,206,901 (GRCm39) V492L possibly damaging Het
Ube3c T C 5: 29,873,038 (GRCm39) F1026S probably damaging Het
Vmn2r8 T G 5: 108,956,487 (GRCm39) D45A possibly damaging Het
Zfp738 G T 13: 67,819,422 (GRCm39) L180I probably damaging Het
Other mutations in Frs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00807:Frs2 APN 10 116,910,791 (GRCm39) splice site probably benign
IGL02300:Frs2 APN 10 116,913,496 (GRCm39) missense possibly damaging 0.67
IGL03028:Frs2 APN 10 116,909,838 (GRCm39) missense possibly damaging 0.66
R0001:Frs2 UTSW 10 116,910,781 (GRCm39) missense possibly damaging 0.76
R0513:Frs2 UTSW 10 116,910,570 (GRCm39) missense possibly damaging 0.86
R0708:Frs2 UTSW 10 116,909,997 (GRCm39) missense probably damaging 0.99
R0735:Frs2 UTSW 10 116,910,487 (GRCm39) missense probably damaging 1.00
R1296:Frs2 UTSW 10 116,916,979 (GRCm39) missense probably benign 0.30
R1934:Frs2 UTSW 10 116,914,806 (GRCm39) missense probably damaging 0.99
R1938:Frs2 UTSW 10 116,917,011 (GRCm39) start gained probably benign
R1992:Frs2 UTSW 10 116,910,459 (GRCm39) missense probably benign
R3878:Frs2 UTSW 10 116,914,815 (GRCm39) missense probably benign 0.01
R4732:Frs2 UTSW 10 116,909,998 (GRCm39) missense probably benign 0.31
R4733:Frs2 UTSW 10 116,909,998 (GRCm39) missense probably benign 0.31
R5186:Frs2 UTSW 10 116,914,747 (GRCm39) missense probably damaging 1.00
R5326:Frs2 UTSW 10 116,913,468 (GRCm39) missense probably benign 0.00
R5894:Frs2 UTSW 10 116,917,011 (GRCm39) start gained probably benign
R6084:Frs2 UTSW 10 116,912,714 (GRCm39) critical splice donor site probably null
R7468:Frs2 UTSW 10 116,910,007 (GRCm39) missense possibly damaging 0.86
R7603:Frs2 UTSW 10 116,909,968 (GRCm39) missense probably benign 0.03
R8179:Frs2 UTSW 10 116,912,791 (GRCm39) missense probably damaging 1.00
R8190:Frs2 UTSW 10 116,910,784 (GRCm39) missense possibly damaging 0.67
R8721:Frs2 UTSW 10 116,909,935 (GRCm39) missense probably benign 0.00
R9104:Frs2 UTSW 10 116,910,070 (GRCm39) missense probably benign 0.19
Z1177:Frs2 UTSW 10 116,910,284 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCCAAACAGGAGGCAAAG -3'
(R):5'- AGGGTTTCTAATGCTGAGAGC -3'

Sequencing Primer
(F):5'- AATAGTGCAGGTCTTCTCTGC -3'
(R):5'- GCTGAGAGCAACACACCAAAAGAAG -3'
Posted On 2014-09-18