Incidental Mutation 'R6254:Fermt2'
ID 506018
Institutional Source Beutler Lab
Gene Symbol Fermt2
Ensembl Gene ENSMUSG00000037712
Gene Name fermitin family member 2
Synonyms Mig2, Plekhc1, Kindlin-2
MMRRC Submission 044371-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6254 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 45696252-45767575 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45713516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 205 (D205G)
Ref Sequence ENSEMBL: ENSMUSP00000120918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045905] [ENSMUST00000141424] [ENSMUST00000150660]
AlphaFold Q8CIB5
Predicted Effect probably damaging
Transcript: ENSMUST00000045905
AA Change: D194G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000044554
Gene: ENSMUSG00000037712
AA Change: D194G

DomainStartEndE-ValueType
Blast:B41 16 45 2e-9 BLAST
low complexity region 46 57 N/A INTRINSIC
B41 93 573 5.09e-56 SMART
PH 373 478 2.7e-10 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000141424
AA Change: D33G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118214
Gene: ENSMUSG00000037712
AA Change: D33G

DomainStartEndE-ValueType
SCOP:d1h4ra3 86 116 2e-3 SMART
Pfam:FERM_M 120 180 5.6e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000150660
AA Change: D205G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120918
Gene: ENSMUSG00000037712
AA Change: D205G

DomainStartEndE-ValueType
PDB:2LGX|A 1 105 3e-61 PDB
Blast:B41 16 45 3e-10 BLAST
Blast:B41 93 258 3e-96 BLAST
Meta Mutation Damage Score 0.1879 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.4%
Validation Efficiency 100% (82/82)
MGI Phenotype PHENOTYPE: Homozygous mice are embryonic lethal at or before E7.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,453,190 (GRCm39) L2F probably damaging Het
Ank2 T A 3: 126,735,453 (GRCm39) probably benign Het
Anpep T G 7: 79,488,981 (GRCm39) D369A probably damaging Het
App T C 16: 84,775,065 (GRCm39) E599G probably damaging Het
Asphd1 C T 7: 126,548,040 (GRCm39) V88I probably benign Het
Atad5 A T 11: 80,018,215 (GRCm39) I1389F probably damaging Het
Blm T C 7: 80,130,090 (GRCm39) N950S probably benign Het
Bsn A T 9: 107,989,065 (GRCm39) M2229K probably damaging Het
Cacna2d2 A G 9: 107,386,415 (GRCm39) M181V probably benign Het
Cadps2 T A 6: 23,329,162 (GRCm39) probably null Het
Cdh1 T A 8: 107,390,430 (GRCm39) V590D probably damaging Het
Cdk5rap2 G A 4: 70,282,269 (GRCm39) T160M probably damaging Het
Cfap97d2 A G 8: 13,756,043 (GRCm39) D26G possibly damaging Het
Cfhr4 A G 1: 139,682,128 (GRCm39) I156T probably damaging Het
Chrna5 A G 9: 54,913,740 (GRCm39) M325V probably benign Het
Clca3a2 A G 3: 144,507,895 (GRCm39) I116T probably benign Het
Cyp2c23 T C 19: 43,993,902 (GRCm39) K488R probably benign Het
Edil3 T A 13: 89,467,848 (GRCm39) I451N probably damaging Het
Exph5 T G 9: 53,284,010 (GRCm39) S364A possibly damaging Het
Fam98c A G 7: 28,853,942 (GRCm39) S209P probably damaging Het
Fat3 G A 9: 15,907,441 (GRCm39) L2854F probably benign Het
Fbxo38 T C 18: 62,638,571 (GRCm39) probably null Het
Fmnl1 G A 11: 103,087,141 (GRCm39) probably benign Het
Fn3k A G 11: 121,325,894 (GRCm39) E27G probably damaging Het
Foxj2 A G 6: 122,815,098 (GRCm39) H378R probably damaging Het
Fubp1 A G 3: 151,938,045 (GRCm39) K140E possibly damaging Het
Gm7694 A T 1: 170,130,103 (GRCm39) C98* probably null Het
Golgb1 T C 16: 36,734,340 (GRCm39) S1196P probably damaging Het
Gpm6a G A 8: 55,500,431 (GRCm39) probably null Het
Hltf T A 3: 20,117,993 (GRCm39) N80K possibly damaging Het
Il1rap G A 16: 26,514,020 (GRCm39) R251H probably benign Het
Ipo7 T A 7: 109,648,267 (GRCm39) D688E probably benign Het
Itgal T A 7: 126,924,375 (GRCm39) N897K probably damaging Het
Itsn2 A G 12: 4,674,982 (GRCm39) probably null Het
Kcnk13 A G 12: 99,931,631 (GRCm39) probably benign Het
Kdm7a A G 6: 39,147,203 (GRCm39) L248P probably damaging Het
Kmt2c T C 5: 25,554,872 (GRCm39) E1254G possibly damaging Het
Ldah G A 12: 8,325,912 (GRCm39) probably benign Het
Lingo1 T A 9: 56,527,371 (GRCm39) D406V possibly damaging Het
Lratd2 A G 15: 60,695,650 (GRCm39) I32T probably damaging Het
Lrriq1 A T 10: 103,051,312 (GRCm39) V480E probably benign Het
Mtcl1 C T 17: 66,665,129 (GRCm39) R1142H probably benign Het
Mtmr3 G A 11: 4,447,381 (GRCm39) Q360* probably null Het
Muc6 T C 7: 141,237,380 (GRCm39) N252S probably benign Het
Naa20 T C 2: 145,745,240 (GRCm39) L4P probably damaging Het
Neb T A 2: 52,112,973 (GRCm39) I4274L probably benign Het
Noa1 A T 5: 77,457,516 (GRCm39) F130I probably benign Het
Nrg4 G T 9: 55,143,796 (GRCm39) H87N possibly damaging Het
Or51ai2 T A 7: 103,586,741 (GRCm39) H51Q probably benign Het
Or5m12 T A 2: 85,734,849 (GRCm39) Y183F probably damaging Het
P3h3 C T 6: 124,822,564 (GRCm39) E536K probably damaging Het
Pcdhb11 T C 18: 37,554,771 (GRCm39) S34P probably damaging Het
Pik3r1 T C 13: 101,825,914 (GRCm39) T71A possibly damaging Het
Plaur T A 7: 24,166,225 (GRCm39) C99S possibly damaging Het
Plekha5 G A 6: 140,532,162 (GRCm39) G501E probably damaging Het
Plxnd1 C T 6: 115,954,921 (GRCm39) V614M probably benign Het
Ppp2r3d T C 9: 101,025,786 (GRCm39) D307G possibly damaging Het
Prl3d3 C T 13: 27,341,453 (GRCm39) S28F possibly damaging Het
Prpf40a T C 2: 53,047,927 (GRCm39) M197V probably benign Het
Ptk7 C A 17: 46,883,568 (GRCm39) Q832H probably damaging Het
Qser1 T C 2: 104,620,435 (GRCm39) S126G probably benign Het
Rab3ip A T 10: 116,751,772 (GRCm39) C332S probably damaging Het
Raly C A 2: 154,699,286 (GRCm39) T30K probably damaging Het
Rbp2 G T 9: 98,372,700 (GRCm39) S13I probably benign Het
Rps6ka1 C T 4: 133,594,535 (GRCm39) M159I possibly damaging Het
Rufy3 C T 5: 88,732,168 (GRCm39) T57I probably benign Het
Samd4 A G 14: 47,254,088 (GRCm39) D184G probably damaging Het
Slc35f3 T C 8: 127,047,833 (GRCm39) C58R possibly damaging Het
Smarca4 T C 9: 21,611,173 (GRCm39) I1467T probably damaging Het
Spag17 T G 3: 99,972,901 (GRCm39) I1371S probably benign Het
Sptan1 T C 2: 29,897,561 (GRCm39) L1228P possibly damaging Het
Stk31 C T 6: 49,398,631 (GRCm39) A344V probably benign Het
Supt16 A G 14: 52,408,291 (GRCm39) W885R probably damaging Het
Tdrd9 T A 12: 111,992,334 (GRCm39) probably null Het
Tmod1 A G 4: 46,078,469 (GRCm39) probably null Het
Tnfsf13 A C 11: 69,575,309 (GRCm39) probably null Het
Trim75 C A 8: 65,436,094 (GRCm39) E119* probably null Het
Wdr6 T C 9: 108,452,110 (GRCm39) Y591C probably damaging Het
Wdr86 C T 5: 24,923,281 (GRCm39) R137H probably benign Het
Ythdf1 T A 2: 180,552,943 (GRCm39) Y424F probably damaging Het
Zfp984 G T 4: 147,840,643 (GRCm39) S69R possibly damaging Het
Zyg11a A G 4: 108,038,991 (GRCm39) F743L probably damaging Het
Other mutations in Fermt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01301:Fermt2 APN 14 45,702,320 (GRCm39) missense probably damaging 1.00
IGL01859:Fermt2 APN 14 45,697,413 (GRCm39) missense possibly damaging 0.94
IGL02719:Fermt2 APN 14 45,742,113 (GRCm39) missense probably damaging 1.00
IGL03182:Fermt2 APN 14 45,699,225 (GRCm39) missense possibly damaging 0.77
ANU18:Fermt2 UTSW 14 45,702,320 (GRCm39) missense probably damaging 1.00
R0107:Fermt2 UTSW 14 45,702,279 (GRCm39) missense probably damaging 0.98
R0671:Fermt2 UTSW 14 45,706,776 (GRCm39) missense probably benign 0.09
R1172:Fermt2 UTSW 14 45,697,425 (GRCm39) missense possibly damaging 0.91
R1227:Fermt2 UTSW 14 45,697,447 (GRCm39) missense probably benign 0.19
R1480:Fermt2 UTSW 14 45,699,244 (GRCm39) missense possibly damaging 0.88
R2219:Fermt2 UTSW 14 45,713,354 (GRCm39) missense probably benign
R2937:Fermt2 UTSW 14 45,741,948 (GRCm39) splice site probably null
R4765:Fermt2 UTSW 14 45,699,693 (GRCm39) missense probably benign 0.01
R5921:Fermt2 UTSW 14 45,702,203 (GRCm39) missense probably damaging 1.00
R6063:Fermt2 UTSW 14 45,697,338 (GRCm39) missense possibly damaging 0.77
R6216:Fermt2 UTSW 14 45,697,338 (GRCm39) missense possibly damaging 0.77
R6964:Fermt2 UTSW 14 45,702,599 (GRCm39) missense probably damaging 0.99
R7574:Fermt2 UTSW 14 45,706,782 (GRCm39) missense probably damaging 1.00
R7917:Fermt2 UTSW 14 45,699,318 (GRCm39) missense probably damaging 0.98
R8692:Fermt2 UTSW 14 45,742,099 (GRCm39) nonsense probably null
R8861:Fermt2 UTSW 14 45,697,466 (GRCm39) missense possibly damaging 0.94
R8910:Fermt2 UTSW 14 45,702,389 (GRCm39) missense probably damaging 1.00
R8986:Fermt2 UTSW 14 45,742,023 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGAACACTGCAGACGAGCTC -3'
(R):5'- AGCTTTCCTTCCAGATTGAAGC -3'

Sequencing Primer
(F):5'- AGAGTCAGGCAGTTCTCTCTGAC -3'
(R):5'- CCTTCCAGATTGAAGCTTGTGGC -3'
Posted On 2018-02-28