Incidental Mutation 'IGL00598:Farp2'
ID 10688
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Farp2
Ensembl Gene ENSMUSG00000034066
Gene Name FERM, RhoGEF and pleckstrin domain protein 2
Synonyms Fir, D030026M03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00598
Quality Score
Status
Chromosome 1
Chromosomal Location 93439826-93549698 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93531103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 534 (M534L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120301]
AlphaFold Q91VS8
Predicted Effect probably benign
Transcript: ENSMUST00000041983
AA Change: M534L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043545
Gene: ENSMUSG00000034066
AA Change: M534L

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 benign
Transcript: ENSMUST00000120301
AA Change: M534L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066
AA Change: M534L

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
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: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdh11 T C 8: 103,377,281 (GRCm39) N455S probably damaging Het
Cimip4 C T 15: 78,270,438 (GRCm39) G110D probably damaging Het
Clock T C 5: 76,377,311 (GRCm39) I663V probably benign Het
Gm5464 C T 14: 67,106,836 (GRCm39) probably benign Het
Ncoa1 T A 12: 4,328,218 (GRCm39) R873S probably benign Het
Neb G A 2: 52,098,313 (GRCm39) T4616I possibly damaging Het
Pbrm1 A G 14: 30,752,884 (GRCm39) D107G probably damaging Het
Pdcd7 A T 9: 65,263,700 (GRCm39) K223* probably null Het
Ppp2r5b A G 19: 6,280,998 (GRCm39) F277S probably damaging Het
Ripor1 G A 8: 106,348,065 (GRCm39) probably benign Het
Serpina12 G A 12: 103,997,373 (GRCm39) H383Y probably benign Het
Other mutations in Farp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00953:Farp2 APN 1 93,488,896 (GRCm39) missense possibly damaging 0.92
IGL00961:Farp2 APN 1 93,549,035 (GRCm39) missense possibly damaging 0.81
IGL00970:Farp2 APN 1 93,488,049 (GRCm39) missense probably benign 0.00
IGL01377:Farp2 APN 1 93,531,181 (GRCm39) missense possibly damaging 0.74
IGL01408:Farp2 APN 1 93,546,702 (GRCm39) missense probably benign 0.19
IGL01919:Farp2 APN 1 93,504,155 (GRCm39) missense probably damaging 1.00
IGL01985:Farp2 APN 1 93,535,324 (GRCm39) missense probably damaging 1.00
IGL02375:Farp2 APN 1 93,504,185 (GRCm39) missense probably damaging 1.00
IGL02392:Farp2 APN 1 93,505,372 (GRCm39) missense probably damaging 1.00
IGL02815:Farp2 APN 1 93,488,007 (GRCm39) missense probably damaging 1.00
IGL03003:Farp2 APN 1 93,495,140 (GRCm39) missense probably damaging 1.00
IGL03074:Farp2 APN 1 93,488,049 (GRCm39) missense probably benign 0.00
IGL03223:Farp2 APN 1 93,545,324 (GRCm39) nonsense probably null
IGL03379:Farp2 APN 1 93,535,160 (GRCm39) missense probably benign 0.08
IGL02802:Farp2 UTSW 1 93,456,332 (GRCm39) missense probably damaging 1.00
PIT4468001:Farp2 UTSW 1 93,456,499 (GRCm39) nonsense probably null
PIT4494001:Farp2 UTSW 1 93,545,316 (GRCm39) missense probably damaging 1.00
R0207:Farp2 UTSW 1 93,496,809 (GRCm39) missense probably damaging 0.96
R0521:Farp2 UTSW 1 93,504,543 (GRCm39) critical splice acceptor site probably null
R0594:Farp2 UTSW 1 93,504,222 (GRCm39) missense probably damaging 1.00
R1386:Farp2 UTSW 1 93,547,873 (GRCm39) splice site probably null
R1522:Farp2 UTSW 1 93,546,275 (GRCm39) missense possibly damaging 0.79
R1589:Farp2 UTSW 1 93,507,582 (GRCm39) missense probably damaging 1.00
R1651:Farp2 UTSW 1 93,531,191 (GRCm39) critical splice donor site probably null
R1695:Farp2 UTSW 1 93,488,047 (GRCm39) missense probably damaging 0.97
R1833:Farp2 UTSW 1 93,504,086 (GRCm39) splice site probably benign
R1915:Farp2 UTSW 1 93,456,424 (GRCm39) missense probably benign 0.16
R2241:Farp2 UTSW 1 93,507,625 (GRCm39) missense probably benign 0.31
R4505:Farp2 UTSW 1 93,546,732 (GRCm39) missense probably damaging 1.00
R4518:Farp2 UTSW 1 93,548,363 (GRCm39) missense probably benign 0.04
R4551:Farp2 UTSW 1 93,546,314 (GRCm39) missense possibly damaging 0.92
R4723:Farp2 UTSW 1 93,508,621 (GRCm39) missense probably benign 0.07
R4821:Farp2 UTSW 1 93,502,192 (GRCm39) splice site probably null
R4861:Farp2 UTSW 1 93,533,141 (GRCm39) missense probably damaging 1.00
R4861:Farp2 UTSW 1 93,533,141 (GRCm39) missense probably damaging 1.00
R5221:Farp2 UTSW 1 93,504,140 (GRCm39) missense probably damaging 0.99
R5625:Farp2 UTSW 1 93,456,470 (GRCm39) missense probably damaging 1.00
R5663:Farp2 UTSW 1 93,497,735 (GRCm39) missense probably damaging 1.00
R5935:Farp2 UTSW 1 93,548,367 (GRCm39) critical splice donor site probably null
R6593:Farp2 UTSW 1 93,497,662 (GRCm39) missense possibly damaging 0.48
R6853:Farp2 UTSW 1 93,497,738 (GRCm39) missense probably damaging 1.00
R7001:Farp2 UTSW 1 93,547,952 (GRCm39) missense possibly damaging 0.94
R7001:Farp2 UTSW 1 93,547,906 (GRCm39) missense possibly damaging 0.94
R7133:Farp2 UTSW 1 93,548,956 (GRCm39) missense probably damaging 1.00
R7134:Farp2 UTSW 1 93,531,181 (GRCm39) missense probably benign 0.04
R7184:Farp2 UTSW 1 93,531,137 (GRCm39) missense probably damaging 1.00
R7219:Farp2 UTSW 1 93,488,040 (GRCm39) missense probably damaging 0.97
R7234:Farp2 UTSW 1 93,507,841 (GRCm39) missense possibly damaging 0.94
R7426:Farp2 UTSW 1 93,548,950 (GRCm39) missense possibly damaging 0.55
R7477:Farp2 UTSW 1 93,508,750 (GRCm39) splice site probably null
R7503:Farp2 UTSW 1 93,495,219 (GRCm39) missense probably benign 0.03
R7921:Farp2 UTSW 1 93,495,237 (GRCm39) critical splice donor site probably null
R7939:Farp2 UTSW 1 93,487,983 (GRCm39) missense probably damaging 1.00
R7985:Farp2 UTSW 1 93,504,246 (GRCm39) missense probably damaging 1.00
R8162:Farp2 UTSW 1 93,548,325 (GRCm39) missense probably damaging 1.00
R8207:Farp2 UTSW 1 93,548,965 (GRCm39) missense probably benign 0.00
R8292:Farp2 UTSW 1 93,456,350 (GRCm39) missense probably damaging 1.00
R8348:Farp2 UTSW 1 93,504,614 (GRCm39) critical splice donor site probably null
R8495:Farp2 UTSW 1 93,531,139 (GRCm39) missense possibly damaging 0.74
R9106:Farp2 UTSW 1 93,488,910 (GRCm39) critical splice donor site probably null
Z1176:Farp2 UTSW 1 93,508,189 (GRCm39) missense probably benign 0.00
Z1176:Farp2 UTSW 1 93,508,183 (GRCm39) missense probably benign
Z1176:Farp2 UTSW 1 93,507,858 (GRCm39) missense probably benign
Posted On 2012-12-06