Incidental Mutation 'R8910:Fermt2'
ID 678581
Institutional Source Beutler Lab
Gene Symbol Fermt2
Ensembl Gene ENSMUSG00000037712
Gene Name fermitin family member 2
Synonyms Mig2, Plekhc1, Kindlin-2
MMRRC Submission 068701-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8910 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 45696252-45767575 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 45702389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 465 (A465V)
Ref Sequence ENSEMBL: ENSMUSP00000044554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045905] [ENSMUST00000141424]
AlphaFold Q8CIB5
Predicted Effect probably damaging
Transcript: ENSMUST00000045905
AA Change: A465V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044554
Gene: ENSMUSG00000037712
AA Change: A465V

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 benign
Transcript: ENSMUST00000141424
SMART Domains Protein: ENSMUSP00000118214
Gene: ENSMUSG00000037712

DomainStartEndE-ValueType
SCOP:d1h4ra3 86 116 2e-3 SMART
Pfam:FERM_M 120 180 5.6e-24 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (62/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,471,768 (GRCm39) I1058V probably benign Het
Abca5 T C 11: 110,189,030 (GRCm39) E809G probably damaging Het
Akap12 A T 10: 4,263,822 (GRCm39) Q77L probably benign Het
Aldh5a1 A G 13: 25,102,599 (GRCm39) V288A probably damaging Het
Alox5 C A 6: 116,389,510 (GRCm39) E586* probably null Het
Anxa2r1 T A 13: 120,508,356 (GRCm39) probably benign Het
Arid5b A G 10: 67,934,108 (GRCm39) F598S Het
Btc A C 5: 91,508,671 (GRCm39) M157R probably benign Het
Cadps2 T C 6: 23,344,223 (GRCm39) N908S probably benign Het
Cd244a C A 1: 171,386,941 (GRCm39) H17N probably damaging Het
Cdh15 T C 8: 123,575,240 (GRCm39) L5P probably benign Het
Cep15 A G 14: 12,285,444 (GRCm38) H10R probably benign Het
Cept1 A C 3: 106,446,565 (GRCm39) S94A probably benign Het
Cntn4 T C 6: 106,632,497 (GRCm39) M507T probably benign Het
Cpne4 A G 9: 104,799,706 (GRCm39) probably benign Het
Dffb T C 4: 154,057,416 (GRCm39) D87G possibly damaging Het
Dlgap1 C T 17: 71,093,815 (GRCm39) T712I probably damaging Het
Dnhd1 A C 7: 105,332,904 (GRCm39) H155P possibly damaging Het
Dpyd A G 3: 118,404,167 (GRCm39) K38R probably benign Het
Evx1 C T 6: 52,293,746 (GRCm39) R305C probably damaging Het
Ezr A G 17: 7,023,299 (GRCm39) L47P probably damaging Het
Fabp6 C T 11: 43,492,335 (GRCm39) A2T possibly damaging Het
Fam78a G A 2: 31,959,681 (GRCm39) T143M probably damaging Het
Fam83h C T 15: 75,874,844 (GRCm39) G831D probably benign Het
Fras1 T C 5: 96,715,855 (GRCm39) S358P probably benign Het
Frem1 C A 4: 82,868,694 (GRCm39) G1429V probably benign Het
Fst T A 13: 114,590,245 (GRCm39) probably benign Het
Gfpt1 T C 6: 87,030,787 (GRCm39) I57T probably benign Het
Gimap6 A G 6: 48,679,388 (GRCm39) I216T probably damaging Het
Gm10267 T A 18: 44,289,511 (GRCm39) N73I possibly damaging Het
H2-M2 G A 17: 37,792,413 (GRCm39) T286I probably damaging Het
Hgs T C 11: 120,369,202 (GRCm39) probably null Het
Klra6 T C 6: 129,993,647 (GRCm39) E208G probably benign Het
L3mbtl1 A T 2: 162,812,213 (GRCm39) T753S probably benign Het
Larp6 A G 9: 60,620,526 (GRCm39) E13G probably benign Het
Mroh2b A G 15: 4,960,855 (GRCm39) I806V probably benign Het
Myo1g T C 11: 6,468,009 (GRCm39) N142S possibly damaging Het
Myo3a A G 2: 22,464,280 (GRCm39) T1112A probably benign Het
Or4b1b C A 2: 90,126,848 (GRCm39) R119L possibly damaging Het
Pelp1 A T 11: 70,287,461 (GRCm39) M449K probably damaging Het
Ppp4r1 T C 17: 66,144,768 (GRCm39) V795A probably damaging Het
Ppp4r3b G T 11: 29,146,290 (GRCm39) M372I probably null Het
Ptprk T C 10: 28,368,993 (GRCm39) V655A possibly damaging Het
Rad51d T C 11: 82,773,793 (GRCm39) R166G probably damaging Het
Rbm19 T A 5: 120,271,844 (GRCm39) Y650N probably damaging Het
Rreb1 A G 13: 38,132,741 (GRCm39) K204E Het
Ryr1 A G 7: 28,771,340 (GRCm39) L2567P probably damaging Het
Scn3a T A 2: 65,338,883 (GRCm39) S599C probably damaging Het
Slc7a15 T A 12: 8,589,117 (GRCm39) probably benign Het
Taf6 T C 5: 138,182,716 (GRCm39) T12A probably benign Het
Tbc1d10b T C 7: 126,806,938 (GRCm39) T200A probably benign Het
Tex21 C T 12: 76,263,533 (GRCm39) probably benign Het
Thap4 T C 1: 93,642,666 (GRCm39) H515R probably damaging Het
Tmem94 A G 11: 115,688,252 (GRCm39) Q1237R probably damaging Het
Tppp3 A G 8: 106,194,924 (GRCm39) V69A probably benign Het
Unc5a A G 13: 55,151,401 (GRCm39) E695G possibly damaging Het
Wtip G A 7: 33,832,063 (GRCm39) P141L possibly damaging Het
Wwp1 A T 4: 19,627,741 (GRCm39) M718K possibly damaging Het
Zbtb25 A C 12: 76,395,908 (GRCm39) V438G probably damaging Het
Zfp444 T C 7: 6,187,026 (GRCm39) L46P probably damaging Het
Zfp521 T C 18: 13,977,233 (GRCm39) H1060R probably benign Het
Zkscan14 A G 5: 145,132,190 (GRCm39) F447S 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
R6254:Fermt2 UTSW 14 45,713,516 (GRCm39) missense probably damaging 1.00
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
R8986:Fermt2 UTSW 14 45,742,023 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATACTTCTTCAGGTACCGCGG -3'
(R):5'- CCTAATTCCGGTAGCAGAGG -3'

Sequencing Primer
(F):5'- GGGACACCAGACACTCGG -3'
(R):5'- CATGAATGAGATCTGGCTTCGC -3'
Posted On 2021-08-02