Incidental Mutation 'R6102:Frs3'
ID 485342
Institutional Source Beutler Lab
Gene Symbol Frs3
Ensembl Gene ENSMUSG00000023266
Gene Name fibroblast growth factor receptor substrate 3
Synonyms 4930417B13Rik, SNT2, Frs2beta
MMRRC Submission 044252-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.612) question?
Stock # R6102 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 47689030-47704286 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 47702671 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 173 (H173Y)
Ref Sequence ENSEMBL: ENSMUSP00000108921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113296] [ENSMUST00000156118]
AlphaFold Q91WJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000113296
AA Change: H173Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108921
Gene: ENSMUSG00000023266
AA Change: H173Y

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 97% (65/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e A G 11: 70,320,023 (GRCm38) I290T possibly damaging Het
Apeh T A 9: 108,086,439 (GRCm38) D559V probably damaging Het
Aspm T A 1: 139,477,459 (GRCm38) Y1361* probably null Het
Atad5 G T 11: 80,111,572 (GRCm38) probably null Het
Ccr4 C T 9: 114,496,493 (GRCm38) probably null Het
Clasrp G A 7: 19,586,468 (GRCm38) probably benign Het
Cldn23 A G 8: 35,825,551 (GRCm38) M261T probably benign Het
Cmya5 T C 13: 93,094,231 (GRCm38) M1450V probably benign Het
Cyp4v3 T A 8: 45,320,160 (GRCm38) E202V probably damaging Het
Dnah7a A T 1: 53,559,140 (GRCm38) V1412E probably benign Het
Dnah9 A G 11: 65,990,516 (GRCm38) S2578P probably damaging Het
Dsc2 T A 18: 20,047,108 (GRCm38) Y196F probably benign Het
Exoc1 T C 5: 76,537,779 (GRCm38) S113P probably damaging Het
Fbxo6 A T 4: 148,149,522 (GRCm38) I39N probably damaging Het
Ginm1 G T 10: 7,768,496 (GRCm38) T323K probably benign Het
Golgb1 T C 16: 36,912,865 (GRCm38) S825P probably damaging Het
Hs3st3b1 A T 11: 63,921,855 (GRCm38) C11* probably null Het
Ighv3-3 G C 12: 114,196,460 (GRCm38) A110G possibly damaging Het
Igkv6-20 G A 6: 70,335,869 (GRCm38) H107Y probably benign Het
Kcnj16 A G 11: 111,025,577 (GRCm38) E355G probably benign Het
Lig4 C T 8: 9,972,872 (GRCm38) G303S probably damaging Het
Map1b A C 13: 99,425,873 (GRCm38) V2443G unknown Het
Map3k6 T C 4: 133,247,131 (GRCm38) probably null Het
Mmp13 A G 9: 7,276,688 (GRCm38) Q261R probably benign Het
Mphosph9 T A 5: 124,297,709 (GRCm38) I554F possibly damaging Het
Mrgpra3 A T 7: 47,590,149 (GRCm38) F10I possibly damaging Het
Ms4a18 G A 19: 11,013,523 (GRCm38) T69I probably benign Het
Mtmr3 T C 11: 4,487,673 (GRCm38) N927S probably damaging Het
Necab1 T A 4: 14,989,211 (GRCm38) Q188L probably benign Het
Nfatc2 A G 2: 168,519,507 (GRCm38) probably benign Het
Olfr152 T C 2: 87,782,848 (GRCm38) F103L probably damaging Het
Olfr495 T C 7: 108,395,284 (GRCm38) S55P probably damaging Het
Olfr854 T C 9: 19,567,022 (GRCm38) M121V possibly damaging Het
Paip2b A C 6: 83,808,846 (GRCm38) V134G possibly damaging Het
Pax3 T C 1: 78,132,347 (GRCm38) T225A probably damaging Het
Pbx1 C A 1: 168,183,565 (GRCm38) A298S probably benign Het
Pcdhac2 A T 18: 37,146,282 (GRCm38) K772* probably null Het
Pcsk4 A T 10: 80,325,817 (GRCm38) Y163* probably null Het
Plcd3 A G 11: 103,080,644 (GRCm38) V58A probably damaging Het
Plek2 T A 12: 78,900,093 (GRCm38) T57S possibly damaging Het
Plscr2 C T 9: 92,287,668 (GRCm38) T57I probably benign Het
Ppp2r5b A G 19: 6,234,738 (GRCm38) S32P probably benign Het
Ppp3r2 C T 4: 49,682,022 (GRCm38) probably benign Het
Psme4 T A 11: 30,865,567 (GRCm38) L1693H probably damaging Het
Rrbp1 T A 2: 143,988,393 (GRCm38) Q618L probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,579,904 (GRCm38) probably benign Het
Rsrc1 C T 3: 66,994,649 (GRCm38) P44L unknown Het
Serpina3b A T 12: 104,134,169 (GRCm38) T337S probably benign Het
Slc18a2 T C 19: 59,293,878 (GRCm38) Y506H probably benign Het
Slc9a9 A G 9: 94,936,429 (GRCm38) Y292C probably benign Het
Spta1 T C 1: 174,224,520 (GRCm38) V1840A probably benign Het
Ssb T C 2: 69,871,208 (GRCm38) *416Q probably null Het
Strada A G 11: 106,168,436 (GRCm38) V209A probably benign Het
Tbc1d31 A T 15: 57,936,093 (GRCm38) D225V probably damaging Het
Tgm4 T C 9: 123,056,535 (GRCm38) F381L probably benign Het
Tmem120b T A 5: 123,115,144 (GRCm38) Y203N probably damaging Het
Tmem176b A G 6: 48,835,934 (GRCm38) V109A probably benign Het
Tnfrsf11a C A 1: 105,819,946 (GRCm38) L201M possibly damaging Het
Ttn C A 2: 76,974,350 (GRCm38) probably null Het
Tubb2a T C 13: 34,075,343 (GRCm38) I155V probably benign Het
Vmn1r5 A G 6: 56,986,114 (GRCm38) D258G probably damaging Het
Vmn2r121 T C X: 124,133,575 (GRCm38) T120A probably benign Het
Vmn2r19 A T 6: 123,329,948 (GRCm38) I472F probably damaging Het
Vwa3a A G 7: 120,776,138 (GRCm38) probably null Het
Zfp273 A G 13: 67,822,347 (GRCm38) Y5C probably damaging Het
Zfp647 G A 15: 76,912,085 (GRCm38) P125L probably damaging Het
Zfp825 A G 13: 74,480,653 (GRCm38) L248P probably damaging Het
Other mutations in Frs3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0310:Frs3 UTSW 17 47,703,822 (GRCm38) missense probably benign
R0575:Frs3 UTSW 17 47,703,723 (GRCm38) missense possibly damaging 0.89
R0638:Frs3 UTSW 17 47,701,656 (GRCm38) missense probably benign 0.00
R1519:Frs3 UTSW 17 47,702,978 (GRCm38) missense probably benign
R1668:Frs3 UTSW 17 47,703,222 (GRCm38) missense possibly damaging 0.94
R2151:Frs3 UTSW 17 47,703,062 (GRCm38) missense probably benign
R2517:Frs3 UTSW 17 47,703,072 (GRCm38) missense probably benign 0.10
R3548:Frs3 UTSW 17 47,703,636 (GRCm38) missense probably damaging 1.00
R3789:Frs3 UTSW 17 47,699,696 (GRCm38) critical splice donor site probably null
R3890:Frs3 UTSW 17 47,703,435 (GRCm38) missense probably damaging 0.99
R4981:Frs3 UTSW 17 47,689,262 (GRCm38) splice site probably null
R4996:Frs3 UTSW 17 47,701,710 (GRCm38) missense probably damaging 1.00
R5479:Frs3 UTSW 17 47,701,710 (GRCm38) missense probably damaging 1.00
R5944:Frs3 UTSW 17 47,692,308 (GRCm38) intron probably benign
R5990:Frs3 UTSW 17 47,701,677 (GRCm38) missense possibly damaging 0.81
R6151:Frs3 UTSW 17 47,689,088 (GRCm38) start gained probably benign
R7219:Frs3 UTSW 17 47,702,695 (GRCm38) missense probably damaging 1.00
R7359:Frs3 UTSW 17 47,699,525 (GRCm38) missense probably damaging 0.98
R7404:Frs3 UTSW 17 47,702,726 (GRCm38) critical splice donor site probably null
R7962:Frs3 UTSW 17 47,699,538 (GRCm38) missense possibly damaging 0.95
R8021:Frs3 UTSW 17 47,703,114 (GRCm38) missense probably damaging 1.00
R8337:Frs3 UTSW 17 47,703,852 (GRCm38) missense probably damaging 1.00
R8407:Frs3 UTSW 17 47,698,627 (GRCm38) missense probably damaging 1.00
R8976:Frs3 UTSW 17 47,698,621 (GRCm38) missense probably benign 0.07
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-08-16