Incidental Mutation 'IGL02300:Frs2'
ID290261
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Frs2
Ensembl Gene ENSMUSG00000020170
Gene Namefibroblast growth factor receptor substrate 2
SynonymsSNT1, Frs2alpha, C330018A15Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02300
Quality Score
Status
Chromosome10
Chromosomal Location117069427-117148534 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 117077591 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 111 (N111K)
Ref Sequence ENSEMBL: ENSMUSP00000020381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020381]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020381
AA Change: N111K

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020381
Gene: ENSMUSG00000020170
AA Change: N111K

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
Coding Region Coverage
Validation Efficiency
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amph T C 13: 19,086,604 F128L probably damaging Het
Ccdc65 G A 15: 98,723,110 probably benign Het
Cul9 T C 17: 46,521,032 probably benign Het
Efcab14 G T 4: 115,758,896 probably null Het
Herc1 T C 9: 66,476,363 I3703T probably benign Het
Ktn1 T A 14: 47,690,060 M557K probably damaging Het
Mib1 G A 18: 10,741,016 C88Y probably damaging Het
Olfr1087 T C 2: 86,690,652 I108V probably benign Het
Olfr1480 A G 19: 13,529,880 D113G probably damaging Het
Pclo A T 5: 14,713,741 Y4076F unknown Het
Pdcd11 T C 19: 47,126,942 F1417L probably benign Het
Raph1 G A 1: 60,525,947 T127M possibly damaging Het
Slc38a10 C T 11: 120,110,290 G568E probably benign Het
Timeless G A 10: 128,244,807 S519N probably benign Het
U2surp A G 9: 95,488,770 V373A probably damaging Het
Vmn2r101 A T 17: 19,611,937 I732F probably damaging Het
Zfp28 T C 7: 6,389,496 S122P probably benign Het
Other mutations in Frs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00807:Frs2 APN 10 117074886 splice site probably benign
IGL03028:Frs2 APN 10 117073933 missense possibly damaging 0.66
R0001:Frs2 UTSW 10 117074876 missense possibly damaging 0.76
R0513:Frs2 UTSW 10 117074665 missense possibly damaging 0.86
R0708:Frs2 UTSW 10 117074092 missense probably damaging 0.99
R0735:Frs2 UTSW 10 117074582 missense probably damaging 1.00
R1296:Frs2 UTSW 10 117081074 missense probably benign 0.30
R1934:Frs2 UTSW 10 117078901 missense probably damaging 0.99
R1938:Frs2 UTSW 10 117081106 start gained probably benign
R1992:Frs2 UTSW 10 117074554 missense probably benign
R2095:Frs2 UTSW 10 117074602 missense probably benign 0.00
R3878:Frs2 UTSW 10 117078910 missense probably benign 0.01
R4732:Frs2 UTSW 10 117074093 missense probably benign 0.31
R4733:Frs2 UTSW 10 117074093 missense probably benign 0.31
R5186:Frs2 UTSW 10 117078842 missense probably damaging 1.00
R5326:Frs2 UTSW 10 117077563 missense probably benign 0.00
R5894:Frs2 UTSW 10 117081106 start gained probably benign
R6084:Frs2 UTSW 10 117076809 critical splice donor site probably null
R7468:Frs2 UTSW 10 117074102 missense possibly damaging 0.86
R7603:Frs2 UTSW 10 117074063 missense probably benign 0.03
Z1177:Frs2 UTSW 10 117074379 missense probably damaging 1.00
Posted On2015-04-16