Incidental Mutation 'IGL03223:Farp2'
ID413699
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Farp2
Ensembl Gene ENSMUSG00000034066
Gene NameFERM, RhoGEF and pleckstrin domain protein 2
SynonymsFir, D030026M03Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03223
Quality Score
Status
Chromosome1
Chromosomal Location93512079-93621976 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 93617602 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 827 (Y827*)
Ref Sequence ENSEMBL: ENSMUSP00000112725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027498] [ENSMUST00000120301]
PDB Structure
Crystal strucure of the DH domain of FARP2 [X-RAY DIFFRACTION]
Crystal strucure of the DH-PH-PH domain of FARP2 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000027498
SMART Domains Protein: ENSMUSP00000027498
Gene: ENSMUSG00000026277

DomainStartEndE-ValueType
S_TKc 20 270 2.92e-98 SMART
low complexity region 292 314 N/A INTRINSIC
PDB:3W8H|B 355 426 8e-43 PDB
Predicted Effect probably null
Transcript: ENSMUST00000120301
AA Change: Y827*
SMART Domains Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066
AA Change: Y827*

DomainStartEndE-ValueType
B41 40 234 1.48e-66 SMART
FERM_C 238 328 3.29e-35 SMART
FA 332 378 1.13e-15 SMART
low complexity region 409 421 N/A INTRINSIC
low complexity region 440 459 N/A INTRINSIC
low complexity region 462 473 N/A INTRINSIC
low complexity region 478 492 N/A INTRINSIC
RhoGEF 542 728 1.57e-56 SMART
PH 759 857 1.45e-19 SMART
low complexity region 879 890 N/A INTRINSIC
PH 931 1029 2.62e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154008
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit slight increase in bone volumetrics and reduced osteoclast differentiation from BMDMs cultured with M-CSF and RANKL [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh3b1 T A 19: 3,915,329 H394L probably damaging Het
B430306N03Rik G A 17: 48,316,868 V66I probably damaging Het
Btbd10 T C 7: 113,332,670 N175S probably damaging Het
Dock4 C A 12: 40,817,594 Q1390K probably damaging Het
Eea1 A C 10: 96,039,611 E1248A probably damaging Het
Gcc2 A G 10: 58,298,734 Y1510C probably damaging Het
Igfbp7 A C 5: 77,349,471 probably benign Het
Il1rapl1 A C X: 87,300,735 C185G probably damaging Het
Itga7 A G 10: 128,948,811 probably benign Het
Itsn1 T C 16: 91,905,306 V12A probably benign Het
Lrrc4 A T 6: 28,831,470 C49S probably damaging Het
Lrrc49 T A 9: 60,687,845 K5N possibly damaging Het
Myh13 T C 11: 67,350,242 I815T probably benign Het
Myh8 T C 11: 67,283,818 I253T probably damaging Het
Myo19 A G 11: 84,910,471 T948A possibly damaging Het
Nhs T A X: 161,841,906 I837F probably damaging Het
Olfr1450 T C 19: 12,953,904 V105A probably benign Het
Olfr1467 G T 19: 13,365,281 V218L probably benign Het
Pfpl A T 19: 12,430,074 Q563L probably damaging Het
Swt1 A G 1: 151,379,419 M809T possibly damaging Het
Tbc1d13 T A 2: 30,148,636 I311N probably damaging Het
Tgs1 T C 4: 3,591,322 probably benign Het
Usf3 C T 16: 44,216,450 T431M probably damaging Het
Vdac1 G A 11: 52,376,655 R93H probably benign Het
Vmn1r234 G A 17: 21,229,391 G189D probably damaging Het
Zfp14 A G 7: 30,038,433 Y376H probably damaging Het
Zfp472 T C 17: 32,977,274 C108R probably benign Het
Zfp658 A G 7: 43,567,311 E35G possibly damaging Het
Other mutations in Farp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00598:Farp2 APN 1 93603381 missense probably benign 0.00
IGL00953:Farp2 APN 1 93561174 missense possibly damaging 0.92
IGL00961:Farp2 APN 1 93621313 missense possibly damaging 0.81
IGL00970:Farp2 APN 1 93560327 missense probably benign 0.00
IGL01377:Farp2 APN 1 93603459 missense possibly damaging 0.74
IGL01408:Farp2 APN 1 93618980 missense probably benign 0.19
IGL01919:Farp2 APN 1 93576433 missense probably damaging 1.00
IGL01985:Farp2 APN 1 93607602 missense probably damaging 1.00
IGL02375:Farp2 APN 1 93576463 missense probably damaging 1.00
IGL02392:Farp2 APN 1 93577650 missense probably damaging 1.00
IGL02815:Farp2 APN 1 93560285 missense probably damaging 1.00
IGL03003:Farp2 APN 1 93567418 missense probably damaging 1.00
IGL03074:Farp2 APN 1 93560327 missense probably benign 0.00
IGL03379:Farp2 APN 1 93607438 missense probably benign 0.08
IGL02802:Farp2 UTSW 1 93528610 missense probably damaging 1.00
PIT4468001:Farp2 UTSW 1 93528777 nonsense probably null
PIT4494001:Farp2 UTSW 1 93617594 missense probably damaging 1.00
R0207:Farp2 UTSW 1 93569087 missense probably damaging 0.96
R0521:Farp2 UTSW 1 93576821 critical splice acceptor site probably null
R0594:Farp2 UTSW 1 93576500 missense probably damaging 1.00
R1386:Farp2 UTSW 1 93620151 splice site probably null
R1522:Farp2 UTSW 1 93618553 missense possibly damaging 0.79
R1589:Farp2 UTSW 1 93579860 missense probably damaging 1.00
R1651:Farp2 UTSW 1 93603469 critical splice donor site probably null
R1695:Farp2 UTSW 1 93560325 missense probably damaging 0.97
R1833:Farp2 UTSW 1 93576364 splice site probably benign
R1915:Farp2 UTSW 1 93528702 missense probably benign 0.16
R2241:Farp2 UTSW 1 93579903 missense probably benign 0.31
R4505:Farp2 UTSW 1 93619010 missense probably damaging 1.00
R4518:Farp2 UTSW 1 93620641 missense probably benign 0.04
R4551:Farp2 UTSW 1 93618592 missense possibly damaging 0.92
R4723:Farp2 UTSW 1 93580899 missense probably benign 0.07
R4821:Farp2 UTSW 1 93574470 splice site probably null
R4861:Farp2 UTSW 1 93605419 missense probably damaging 1.00
R4861:Farp2 UTSW 1 93605419 missense probably damaging 1.00
R5221:Farp2 UTSW 1 93576418 missense probably damaging 0.99
R5625:Farp2 UTSW 1 93528748 missense probably damaging 1.00
R5663:Farp2 UTSW 1 93570013 missense probably damaging 1.00
R5935:Farp2 UTSW 1 93620645 critical splice donor site probably null
R6593:Farp2 UTSW 1 93569940 missense possibly damaging 0.48
R6853:Farp2 UTSW 1 93570016 missense probably damaging 1.00
R7001:Farp2 UTSW 1 93620184 missense possibly damaging 0.94
R7001:Farp2 UTSW 1 93620230 missense possibly damaging 0.94
R7133:Farp2 UTSW 1 93621234 missense probably damaging 1.00
R7134:Farp2 UTSW 1 93603459 missense probably benign 0.04
R7184:Farp2 UTSW 1 93603415 missense probably damaging 1.00
R7219:Farp2 UTSW 1 93560318 missense probably damaging 0.97
R7234:Farp2 UTSW 1 93580119 missense possibly damaging 0.94
Posted On2016-08-02