Incidental Mutation 'IGL02626:Fgfr1op2'
ID301089
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fgfr1op2
Ensembl Gene ENSMUSG00000040242
Gene NameFGFR1 oncogene partner 2
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.656) question?
Stock #IGL02626
Quality Score
Status
Chromosome6
Chromosomal Location146577203-146599198 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 146590011 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 124 (M124K)
Ref Sequence ENSEMBL: ENSMUSP00000107289 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037836] [ENSMUST00000058245] [ENSMUST00000067404] [ENSMUST00000111663]
Predicted Effect probably benign
Transcript: ENSMUST00000037836
AA Change: M124K

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000037316
Gene: ENSMUSG00000040242
AA Change: M124K

DomainStartEndE-ValueType
Pfam:DUF837 1 142 4e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058245
AA Change: M124K

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107289
Gene: ENSMUSG00000040242
AA Change: M124K

DomainStartEndE-ValueType
Pfam:DUF837 1 142 4e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000067404
AA Change: M124K

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000098352
Gene: ENSMUSG00000040242
AA Change: M124K

DomainStartEndE-ValueType
Pfam:DUF837 1 185 8.6e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111663
AA Change: M124K

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107292
Gene: ENSMUSG00000040242
AA Change: M124K

DomainStartEndE-ValueType
Pfam:DUF837 2 221 2e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160697
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205231
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 82,065,609 K1236E probably damaging Het
Actl7a A T 4: 56,744,353 E293D possibly damaging Het
Adamts2 T C 11: 50,776,255 Y460H probably damaging Het
Aoc1 G A 6: 48,906,110 V307I probably benign Het
Ar C T X: 98,314,886 H756Y probably damaging Het
Atg3 C T 16: 45,183,685 R224W probably benign Het
Atp5o G A 16: 91,686,313 P47S probably damaging Het
Bicd1 A G 6: 149,409,556 E43G probably damaging Het
Ccdc129 T A 6: 55,968,646 V784D probably benign Het
Ccdc88c A G 12: 100,967,800 probably benign Het
Cd33 A G 7: 43,530,312 probably benign Het
Cd36 T A 5: 17,797,128 R292* probably null Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdh23 T C 10: 60,391,801 D1167G probably damaging Het
Cdk5rap1 A G 2: 154,365,960 probably null Het
Chd6 A G 2: 161,039,350 probably benign Het
Chd7 A T 4: 8,826,519 Y961F probably damaging Het
Cpe T C 8: 64,692,795 E52G probably benign Het
Cpne5 C T 17: 29,160,337 G491S probably damaging Het
Csmd3 A T 15: 47,704,107 probably benign Het
Ctbp2 T A 7: 132,999,211 T608S probably benign Het
Cybb A G X: 9,469,200 probably null Het
Daam2 T C 17: 49,490,254 T168A possibly damaging Het
Dnah5 G T 15: 28,307,276 V1717F possibly damaging Het
Dse G A 10: 34,153,162 T644I probably damaging Het
Dtd2 A C 12: 52,004,925 Y45* probably null Het
Flii T C 11: 60,719,859 D537G probably benign Het
Fntb T A 12: 76,897,371 I217N probably benign Het
Foxi1 A G 11: 34,205,860 S257P probably benign Het
Fyn G A 10: 39,526,802 R190H probably damaging Het
Gm28557 T A 13: 67,074,944 T8S probably benign Het
Gramd1b T C 9: 40,298,010 K873E probably damaging Het
Grb10 T C 11: 11,945,503 T329A probably benign Het
Haus5 A G 7: 30,657,250 L477P probably damaging Het
Hectd4 A T 5: 121,353,881 E3761V possibly damaging Het
Ift172 T C 5: 31,264,496 I930V probably benign Het
Izumo2 A G 7: 44,709,136 probably benign Het
Map4k4 A G 1: 40,014,097 probably benign Het
Morc1 A G 16: 48,615,760 S753G probably damaging Het
Mpzl2 C T 9: 45,044,292 T167I probably damaging Het
Mta2 T A 19: 8,949,168 I491N probably damaging Het
Myo18b A T 5: 112,878,085 I33N unknown Het
Nub1 C T 5: 24,703,464 H404Y possibly damaging Het
Olfr1311 A T 2: 112,021,113 V247E probably damaging Het
Olfr1337 T C 4: 118,782,334 M84V probably damaging Het
Olfr74 T C 2: 87,973,724 N314D probably benign Het
Olfr926 T C 9: 38,877,488 L104S probably benign Het
Ralyl A T 3: 13,777,034 M77L probably benign Het
Rap1gap T A 4: 137,727,053 V649E probably benign Het
Rnf40 C A 7: 127,596,572 Q663K probably damaging Het
Slc22a18 T C 7: 143,499,100 L354P probably damaging Het
Slc9a8 T C 2: 167,467,677 probably benign Het
Surf4 C T 2: 26,925,607 probably null Het
T A T 17: 8,435,237 N85Y probably damaging Het
Tanc1 A G 2: 59,799,872 E732G probably damaging Het
Tas2r138 A G 6: 40,612,715 V199A possibly damaging Het
Trim43b T C 9: 89,085,488 Y365C possibly damaging Het
Ubd T C 17: 37,195,682 L153P probably damaging Het
Xpnpep2 A C X: 48,126,909 M513L probably benign Het
Zar1l C T 5: 150,517,745 G139R probably damaging Het
Zc3hav1 T G 6: 38,332,991 T299P probably damaging Het
Zfp236 C A 18: 82,657,995 probably benign Het
Other mutations in Fgfr1op2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02591:Fgfr1op2 APN 6 146588846 missense probably damaging 0.97
IGL03081:Fgfr1op2 APN 6 146597319 missense probably damaging 0.98
R1381:Fgfr1op2 UTSW 6 146588741 missense probably damaging 1.00
R3740:Fgfr1op2 UTSW 6 146595233 missense possibly damaging 0.94
R3934:Fgfr1op2 UTSW 6 146595171 splice site probably benign
R5471:Fgfr1op2 UTSW 6 146597362 unclassified probably null
R6842:Fgfr1op2 UTSW 6 146590038 critical splice donor site probably null
R6988:Fgfr1op2 UTSW 6 146589965 missense probably damaging 0.99
Posted On2015-04-16