Incidental Mutation 'IGL00953:Farp2'
ID 26696
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 # IGL00953
Quality Score
Status
Chromosome 1
Chromosomal Location 93439826-93549698 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93488896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 107 (R107G)
Ref Sequence ENSEMBL: ENSMUSP00000113790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120301] [ENSMUST00000122402]
AlphaFold Q91VS8
Predicted Effect possibly damaging
Transcript: ENSMUST00000041983
AA Change: R107G

PolyPhen 2 Score 0.530 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043545
Gene: ENSMUSG00000034066
AA Change: R107G

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 possibly damaging
Transcript: ENSMUST00000120301
AA Change: R107G

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066
AA Change: R107G

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 possibly damaging
Transcript: ENSMUST00000122402
AA Change: R107G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113790
Gene: ENSMUSG00000034066
AA Change: R107G

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,902,047 (GRCm39) E726G probably benign Het
Cdyl2 T A 8: 117,321,928 (GRCm39) probably benign Het
Cep41 T C 6: 30,660,966 (GRCm39) T109A probably benign Het
Clca3b C T 3: 144,552,972 (GRCm39) W84* probably null Het
Cyp27b1 A G 10: 126,885,551 (GRCm39) D130G probably benign Het
Cyp2f2 T C 7: 26,829,242 (GRCm39) V249A possibly damaging Het
Cyth3 G A 5: 143,692,920 (GRCm39) probably null Het
Dnah8 G T 17: 30,925,431 (GRCm39) E1289* probably null Het
Fam171a1 A T 2: 3,179,327 (GRCm39) D51V possibly damaging Het
Gemin6 T C 17: 80,535,294 (GRCm39) F85L possibly damaging Het
Hivep3 A C 4: 119,955,571 (GRCm39) T1296P probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Htt T A 5: 34,976,021 (GRCm39) S670T probably benign Het
Klhl24 A T 16: 19,941,717 (GRCm39) N555I possibly damaging Het
Limd1 T A 9: 123,308,948 (GRCm39) S216T probably benign Het
Lmf2 A T 15: 89,238,102 (GRCm39) I234N probably damaging Het
Mrpl4 C A 9: 20,919,863 (GRCm39) D271E probably benign Het
Mydgf C T 17: 56,486,407 (GRCm39) G75R probably damaging Het
Nat1 A G 8: 67,943,630 (GRCm39) D5G possibly damaging Het
Or2t46 T C 11: 58,472,636 (GRCm39) V322A probably benign Het
Or5h22 A T 16: 58,895,052 (GRCm39) Y130* probably null Het
Or5k15 A C 16: 58,710,048 (GRCm39) H178Q probably damaging Het
Pla2g4c T A 7: 13,077,951 (GRCm39) M363K probably benign Het
Prex1 A G 2: 166,480,329 (GRCm39) F137S probably damaging Het
Rbm12b1 A G 4: 12,146,038 (GRCm39) D670G probably damaging Het
Rrp12 C A 19: 41,860,231 (GRCm39) M997I possibly damaging Het
Scn3a A G 2: 65,327,736 (GRCm39) V918A probably benign Het
Slc35g2 A G 9: 100,434,516 (GRCm39) V385A probably damaging Het
Slit1 A T 19: 41,590,739 (GRCm39) I1311N probably damaging Het
Ube2j2 C T 4: 156,030,834 (GRCm39) probably benign Het
Ucp2 A G 7: 100,147,629 (GRCm39) T203A probably benign Het
Upk1b C T 16: 38,600,347 (GRCm39) G211D possibly damaging Het
Vmn1r220 A T 13: 23,367,935 (GRCm39) F254I probably benign Het
Zcchc4 T C 5: 52,965,638 (GRCm39) F314S probably damaging Het
Other mutations in Farp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00598:Farp2 APN 1 93,531,103 (GRCm39) missense probably benign 0.00
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 2013-04-17