Incidental Mutation 'R0207:Farp2'
ID 33363
Institutional Source Beutler Lab
Gene Symbol Farp2
Ensembl Gene ENSMUSG00000034066
Gene Name FERM, RhoGEF and pleckstrin domain protein 2
Synonyms Fir, D030026M03Rik
MMRRC Submission 038460-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0207 (G1)
Quality Score 206
Status Validated
Chromosome 1
Chromosomal Location 93439826-93549698 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93496809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 172 (I172T)
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: I172T

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043545
Gene: ENSMUSG00000034066
AA Change: I172T

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: I172T

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112725
Gene: ENSMUSG00000034066
AA Change: I172T

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: I172T

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113790
Gene: ENSMUSG00000034066
AA Change: I172T

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
Meta Mutation Damage Score 0.4119 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.5%
Validation Efficiency 95% (76/80)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,086,039 (GRCm39) F488S probably damaging Het
Acap3 C T 4: 155,983,881 (GRCm39) R116W probably damaging Het
Adamts10 C A 17: 33,764,364 (GRCm39) P663T possibly damaging Het
Akap12 G A 10: 4,303,333 (GRCm39) G48S probably damaging Het
Ankrd7 T A 6: 18,870,030 (GRCm39) M261K probably benign Het
Ankzf1 C A 1: 75,174,948 (GRCm39) D599E possibly damaging Het
Aox1 T C 1: 58,144,173 (GRCm39) I1278T possibly damaging Het
Apcdd1 T C 18: 63,083,150 (GRCm39) Y327H probably benign Het
Asxl3 T A 18: 22,544,553 (GRCm39) probably benign Het
Birc6 C A 17: 74,969,827 (GRCm39) probably benign Het
Btaf1 T A 19: 36,987,048 (GRCm39) L1714* probably null Het
Cacng6 T A 7: 3,473,520 (GRCm39) probably benign Het
Cdc20b A G 13: 113,215,146 (GRCm39) D238G probably damaging Het
Celf5 T A 10: 81,306,532 (GRCm39) R113W probably null Het
Cfap251 T C 5: 123,421,510 (GRCm39) V182A probably damaging Het
Cfap70 C A 14: 20,462,415 (GRCm39) E659D probably damaging Het
Clspn T A 4: 126,484,391 (GRCm39) M1183K possibly damaging Het
Dpy19l1 G A 9: 24,365,187 (GRCm39) R275C probably damaging Het
Dst C T 1: 34,226,016 (GRCm39) S1721L probably benign Het
Faap100 T C 11: 120,265,191 (GRCm39) T562A probably damaging Het
Fam168b T C 1: 34,858,769 (GRCm39) M133V probably damaging Het
Fer T G 17: 64,203,273 (GRCm39) S68A probably damaging Het
Fmo5 A G 3: 97,552,997 (GRCm39) E315G probably damaging Het
Gpr89 A T 3: 96,778,796 (GRCm39) F426I probably damaging Het
Hinfp T C 9: 44,207,624 (GRCm39) I461V possibly damaging Het
Hsd11b1 A T 1: 192,922,556 (GRCm39) V167D probably damaging Het
Htt A G 5: 35,054,252 (GRCm39) K2574E probably benign Het
I830077J02Rik A G 3: 105,833,821 (GRCm39) S112P probably benign Het
Igf2bp3 T A 6: 49,082,551 (GRCm39) M344L probably benign Het
Itch A T 2: 155,044,177 (GRCm39) Q494L probably benign Het
Itga9 T C 9: 118,598,321 (GRCm39) probably benign Het
Jaml T A 9: 45,005,065 (GRCm39) D152E probably benign Het
Kif22 A C 7: 126,641,572 (GRCm39) M1R probably null Het
Kifap3 T C 1: 163,710,955 (GRCm39) Y663H probably benign Het
Letm2 T A 8: 26,068,786 (GRCm39) N472I probably damaging Het
Mthfr T G 4: 148,136,681 (GRCm39) V446G probably damaging Het
Myh11 T C 16: 14,029,124 (GRCm39) E1206G possibly damaging Het
Myo6 G A 9: 80,195,338 (GRCm39) V903I probably damaging Het
Myo9b C T 8: 71,807,869 (GRCm39) probably benign Het
Nr2f2 G C 7: 70,009,923 (GRCm39) P52R probably damaging Het
Nsd3 A G 8: 26,173,273 (GRCm39) N859S probably benign Het
Nucb2 C A 7: 116,135,245 (GRCm39) A384E probably damaging Het
Ogdhl C A 14: 32,063,994 (GRCm39) probably null Het
Or10al3 C A 17: 38,011,949 (GRCm39) C129* probably null Het
Or1e22 A T 11: 73,377,401 (GRCm39) L83Q probably benign Het
Or1i2 T C 10: 78,447,705 (GRCm39) T257A probably benign Het
Or4a74 G A 2: 89,440,207 (GRCm39) L80F probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Parp10 C T 15: 76,126,833 (GRCm39) S145N probably benign Het
Pigh A G 12: 79,130,483 (GRCm39) probably benign Het
Pigo A G 4: 43,023,824 (GRCm39) probably benign Het
Pkp4 T A 2: 59,135,832 (GRCm39) V199D possibly damaging Het
Polr1e C A 4: 45,025,143 (GRCm39) probably null Het
Ppfia3 C A 7: 44,997,958 (GRCm39) R723L probably damaging Het
Prex1 C A 2: 166,427,818 (GRCm39) A945S possibly damaging Het
Prrt3 A T 6: 113,472,801 (GRCm39) V457E probably damaging Het
Rab39 A G 9: 53,617,271 (GRCm39) F49L possibly damaging Het
Rrs1 C A 1: 9,615,987 (GRCm39) probably null Het
Rrs1 G A 1: 9,615,992 (GRCm39) E82K probably damaging Het
Serpinb3c T C 1: 107,204,722 (GRCm39) D8G probably benign Het
Slc17a6 A G 7: 51,295,928 (GRCm39) probably benign Het
Slc24a4 T A 12: 102,195,210 (GRCm39) probably null Het
Smc1b C T 15: 85,007,960 (GRCm39) M272I probably benign Het
Smc6 T C 12: 11,333,179 (GRCm39) probably benign Het
Tcf20 T C 15: 82,739,286 (GRCm39) T722A probably benign Het
Tesmin A T 19: 3,454,088 (GRCm39) M141L probably benign Het
Tmprss5 T A 9: 49,024,460 (GRCm39) H274Q possibly damaging Het
Tns1 C T 1: 73,976,477 (GRCm39) probably null Het
Tpr T C 1: 150,293,178 (GRCm39) S868P possibly damaging Het
Trank1 C T 9: 111,195,321 (GRCm39) T1115I probably damaging Het
Trmt44 A T 5: 35,730,261 (GRCm39) I203K possibly damaging Het
Ulk2 A T 11: 61,668,611 (GRCm39) V1037E probably benign Het
Usp43 A G 11: 67,767,325 (GRCm39) Y682H probably damaging Het
Vipr2 A T 12: 116,106,502 (GRCm39) Q366L probably damaging Het
Vmn1r185 C A 7: 26,311,014 (GRCm39) V164L possibly damaging Het
Vmn2r120 C T 17: 57,832,052 (GRCm39) V246I probably benign Het
Wiz C T 17: 32,576,007 (GRCm39) G790R probably damaging Het
Wnk1 A T 6: 119,929,694 (GRCm39) S1016R probably damaging Het
Zc3hav1 A G 6: 38,288,109 (GRCm39) L909S probably benign Het
Zfp236 T A 18: 82,658,352 (GRCm39) I637F probably damaging Het
Zfp788 G A 7: 41,299,020 (GRCm39) G532D probably damaging Het
Zranb1 T C 7: 132,552,114 (GRCm39) I255T probably damaging Het
Other mutations in Farp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00598:Farp2 APN 1 93,531,103 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- CAGTGTGGTTATTATGTGCAGCAAAACA -3'
(R):5'- GCAGCTCCTGGTCAAACATCTTCAA -3'

Sequencing Primer
(F):5'- gctcacaaccttctgccac -3'
(R):5'- CCTGGTCAAACATCTTCAATGTAGC -3'
Posted On 2013-05-09