Incidental Mutation 'R0575:Frs3'
ID 201510
Institutional Source Beutler Lab
Gene Symbol Frs3
Ensembl Gene ENSMUSG00000023266
Gene Name fibroblast growth factor receptor substrate 3
Synonyms 4930417B13Rik, Frs2beta, SNT2
MMRRC Submission 038765-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.575) question?
Stock # R0575 (G1)
Quality Score 69
Status Validated
Chromosome 17
Chromosomal Location 47999955-48015211 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48014648 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 447 (H447R)
Ref Sequence ENSEMBL: ENSMUSP00000108921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113296] [ENSMUST00000156118]
AlphaFold Q91WJ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000113296
AA Change: H447R

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000108921
Gene: ENSMUSG00000023266
AA Change: H447R

DomainStartEndE-ValueType
IRS 17 110 4.31e-33 SMART
PTBI 18 110 1.23e-48 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136531
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138316
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139405
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144979
Predicted Effect probably benign
Transcript: ENSMUST00000156118
Meta Mutation Damage Score 0.0857 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (30/30)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a substrate for the fibroblast growth factor receptor. The encoded protein is found in the peripheral plasma membrane and links fibroblast growth factor receptor stimulation to activators of Ras. The encoded protein down-regulates extracellular regulated kinase 2 through direct binding. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik C T 14: 54,828,709 (GRCm39) S264N possibly damaging Het
Acsm1 G A 7: 119,258,424 (GRCm39) probably null Het
Adsl C T 15: 80,847,886 (GRCm39) A93V probably damaging Het
Agbl5 A T 5: 31,051,798 (GRCm39) S539C probably damaging Het
Aggf1 T A 13: 95,504,905 (GRCm39) T285S probably benign Het
Anapc11 A G 11: 120,490,192 (GRCm39) D36G probably benign Het
Ankrd44 G A 1: 54,801,469 (GRCm39) A286V probably damaging Het
Atf7ip2 G T 16: 10,055,075 (GRCm39) G281C probably damaging Het
Birc6 A G 17: 74,996,232 (GRCm39) K4475E probably damaging Het
Ccbe1 T A 18: 66,227,066 (GRCm39) probably benign Het
Cyp26b1 A G 6: 84,552,288 (GRCm39) probably benign Het
Dcun1d1 T C 3: 35,951,934 (GRCm39) probably benign Het
Dtwd2 C A 18: 49,831,539 (GRCm39) C156F probably damaging Het
Efcab6 T G 15: 83,851,901 (GRCm39) I326L probably benign Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
F5 C A 1: 164,003,813 (GRCm39) Q203K probably damaging Het
Gmds T G 13: 32,124,566 (GRCm39) Q264P probably damaging Het
Golgb1 T A 16: 36,739,171 (GRCm39) D2503E probably benign Het
Lgi4 G A 7: 30,759,518 (GRCm39) G25R probably benign Het
Or2y1b G A 11: 49,208,880 (GRCm39) C169Y probably damaging Het
Or5b107 T A 19: 13,142,751 (GRCm39) Y124* probably null Het
Pcdh20 A G 14: 88,705,048 (GRCm39) S751P probably damaging Het
Pcnx4 A G 12: 72,614,010 (GRCm39) T652A probably benign Het
Pom121l2 T G 13: 22,168,338 (GRCm39) F870V probably damaging Het
Prob1 T C 18: 35,787,774 (GRCm39) D160G possibly damaging Het
Spa17 T C 9: 37,514,689 (GRCm39) K133E probably damaging Het
Strbp T A 2: 37,530,885 (GRCm39) D123V possibly damaging Het
Tnxb A G 17: 34,936,180 (GRCm39) T3586A possibly damaging Het
Zfp518a T A 19: 40,900,759 (GRCm39) H229Q probably damaging Het
Other mutations in Frs3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0310:Frs3 UTSW 17 48,014,747 (GRCm39) missense probably benign
R0638:Frs3 UTSW 17 48,012,581 (GRCm39) missense probably benign 0.00
R1519:Frs3 UTSW 17 48,013,903 (GRCm39) missense probably benign
R1668:Frs3 UTSW 17 48,014,147 (GRCm39) missense possibly damaging 0.94
R2151:Frs3 UTSW 17 48,013,987 (GRCm39) missense probably benign
R2517:Frs3 UTSW 17 48,013,997 (GRCm39) missense probably benign 0.10
R3548:Frs3 UTSW 17 48,014,561 (GRCm39) missense probably damaging 1.00
R3789:Frs3 UTSW 17 48,010,621 (GRCm39) critical splice donor site probably null
R3890:Frs3 UTSW 17 48,014,360 (GRCm39) missense probably damaging 0.99
R4981:Frs3 UTSW 17 48,000,187 (GRCm39) splice site probably null
R4996:Frs3 UTSW 17 48,012,635 (GRCm39) missense probably damaging 1.00
R5479:Frs3 UTSW 17 48,012,635 (GRCm39) missense probably damaging 1.00
R5944:Frs3 UTSW 17 48,003,233 (GRCm39) intron probably benign
R5990:Frs3 UTSW 17 48,012,602 (GRCm39) missense possibly damaging 0.81
R6102:Frs3 UTSW 17 48,013,596 (GRCm39) missense probably damaging 1.00
R6151:Frs3 UTSW 17 48,000,013 (GRCm39) start gained probably benign
R7219:Frs3 UTSW 17 48,013,620 (GRCm39) missense probably damaging 1.00
R7359:Frs3 UTSW 17 48,010,450 (GRCm39) missense probably damaging 0.98
R7404:Frs3 UTSW 17 48,013,651 (GRCm39) critical splice donor site probably null
R7962:Frs3 UTSW 17 48,010,463 (GRCm39) missense possibly damaging 0.95
R8021:Frs3 UTSW 17 48,014,039 (GRCm39) missense probably damaging 1.00
R8337:Frs3 UTSW 17 48,014,777 (GRCm39) missense probably damaging 1.00
R8407:Frs3 UTSW 17 48,009,552 (GRCm39) missense probably damaging 1.00
R8976:Frs3 UTSW 17 48,009,546 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- AAATGGCTTCCCTGATGGCGAG -3'
(R):5'- TTGAGAACCCTTCACAGTTTCCACC -3'

Sequencing Primer
(F):5'- GGAGGATGAAACCCCGCTAC -3'
(R):5'- GACACTCAGTGGCTGACATC -3'
Posted On 2014-06-16