Incidental Mutation 'IGL03003:Farp2'
ID407424
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 #IGL03003
Quality Score
Status
Chromosome1
Chromosomal Location93512079-93621976 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 93567418 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 138 (Y138H)
Ref Sequence ENSEMBL: ENSMUSP00000113790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120301] [ENSMUST00000122402]
Predicted Effect probably damaging
Transcript: ENSMUST00000120301
AA Change: Y138H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066
AA Change: Y138H

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 probably damaging
Transcript: ENSMUST00000122402
AA Change: Y138H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113790
Gene: ENSMUSG00000034066
AA Change: Y138H

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 463 475 N/A INTRINSIC
low complexity region 565 576 N/A INTRINSIC
low complexity region 690 700 N/A INTRINSIC
low complexity region 734 753 N/A INTRINSIC
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,743,772 P577L probably damaging Het
Aff3 A T 1: 38,209,570 S819T probably damaging Het
Aftph G T 11: 20,726,982 S209* probably null Het
Astn1 T A 1: 158,612,395 D844E probably benign Het
Cc2d2a A G 5: 43,671,266 K29E probably benign Het
Ccdc93 T C 1: 121,463,117 S273P possibly damaging Het
Cd200r3 G T 16: 44,943,775 M1I probably null Het
Cd200r3 C A 16: 44,943,776 H2N probably benign Het
Col7a1 G A 9: 108,974,956 probably null Het
Cyp3a41a T A 5: 145,705,830 M240L probably benign Het
D430042O09Rik A T 7: 125,851,960 I1088F probably damaging Het
Dcstamp T C 15: 39,754,510 V105A possibly damaging Het
Dmbt1 C A 7: 131,082,679 P635Q probably benign Het
Dsg1a T A 18: 20,336,819 M634K probably benign Het
Fga T C 3: 83,032,730 S564P probably damaging Het
Gbf1 T C 19: 46,255,655 L142S probably damaging Het
Gm5422 T C 10: 31,250,844 noncoding transcript Het
Helz2 A G 2: 181,240,253 V249A probably damaging Het
Hmcn2 C A 2: 31,433,486 T4204K probably damaging Het
Ift81 T C 5: 122,594,662 I270V probably benign Het
Kif6 C T 17: 49,753,871 R411* probably null Het
Klhl35 T A 7: 99,470,343 V345D probably damaging Het
Mcm3ap C A 10: 76,504,697 D1531E probably benign Het
Muc5b C A 7: 141,863,614 D3432E probably benign Het
Nipbl A T 15: 8,350,314 V998D probably damaging Het
Nlrc3 C A 16: 3,964,862 V228L probably benign Het
Nrap T C 19: 56,321,952 H1456R probably damaging Het
Nt5c1b C T 12: 10,374,910 A210V possibly damaging Het
Olfr364-ps1 T C 2: 37,146,452 V80A probably benign Het
Olfr46 A G 7: 140,610,370 Y60C probably damaging Het
Osbpl7 T C 11: 97,050,695 Y15H probably benign Het
Pde8b T A 13: 95,041,957 N552Y probably damaging Het
Pi4kb T A 3: 94,984,812 S280T probably benign Het
Pkd1 T A 17: 24,593,603 probably null Het
Polh A T 17: 46,194,366 V108E possibly damaging Het
Prob1 A G 18: 35,653,375 S609P possibly damaging Het
Ptprz1 T A 6: 23,002,583 N1557K probably damaging Het
Rev1 A C 1: 38,088,073 F369V possibly damaging Het
Rgma A G 7: 73,417,440 N148D probably damaging Het
Robo3 A G 9: 37,419,291 L1003S probably damaging Het
Sdhb T C 4: 140,973,000 V137A probably damaging Het
Sema6c T C 3: 95,169,614 L337P probably damaging Het
Shc4 A T 2: 125,723,333 Y15* probably null Het
Slc4a9 T C 18: 36,536,893 S722P probably damaging Het
Smarcc1 A G 9: 110,206,100 N864D probably damaging Het
Sspo T C 6: 48,455,087 L745P probably damaging Het
Syce1l A G 8: 113,654,067 D137G probably damaging Het
Tbc1d1 G T 5: 64,316,438 W768L probably damaging Het
Tmbim7 A G 5: 3,661,887 D7G probably benign Het
Tmem109 A C 19: 10,874,331 S64A probably benign Het
Tnfrsf21 A G 17: 43,039,943 R333G probably damaging Het
Ttn T G 2: 76,781,611 S17316R probably damaging Het
Usp10 A G 8: 119,954,810 T668A possibly damaging Het
Xirp2 T A 2: 67,515,562 F2716I 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
IGL03074:Farp2 APN 1 93560327 missense probably benign 0.00
IGL03223:Farp2 APN 1 93617602 nonsense probably null
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
R7426:Farp2 UTSW 1 93621228 missense possibly damaging 0.55
R7477:Farp2 UTSW 1 93581028 splice site probably null
R7503:Farp2 UTSW 1 93567497 missense probably benign 0.03
R7921:Farp2 UTSW 1 93567515 critical splice donor site probably null
R7939:Farp2 UTSW 1 93560261 missense probably damaging 1.00
R7985:Farp2 UTSW 1 93576524 missense probably damaging 1.00
R8162:Farp2 UTSW 1 93620603 missense probably damaging 1.00
R8207:Farp2 UTSW 1 93621243 missense probably benign 0.00
R8292:Farp2 UTSW 1 93528628 missense probably damaging 1.00
R8348:Farp2 UTSW 1 93576892 critical splice donor site probably null
R8495:Farp2 UTSW 1 93603417 missense possibly damaging 0.74
Z1176:Farp2 UTSW 1 93580136 missense probably benign
Z1176:Farp2 UTSW 1 93580461 missense probably benign
Z1176:Farp2 UTSW 1 93580467 missense probably benign 0.00
Posted On2016-08-02