Incidental Mutation 'R6216:Fermt2'
ID 503742
Institutional Source Beutler Lab
Gene Symbol Fermt2
Ensembl Gene ENSMUSG00000037712
Gene Name fermitin family member 2
Synonyms Mig2, Plekhc1, Kindlin-2
MMRRC Submission 044349-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6216 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 45696252-45767575 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45697338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 671 (M671K)
Ref Sequence ENSEMBL: ENSMUSP00000044554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045905]
AlphaFold Q8CIB5
Predicted Effect possibly damaging
Transcript: ENSMUST00000045905
AA Change: M671K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044554
Gene: ENSMUSG00000037712
AA Change: M671K

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 noncoding transcript
Transcript: ENSMUST00000158144
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 97% (67/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik T C 9: 57,164,910 (GRCm39) D488G probably benign Het
Adgrv1 C A 13: 81,672,590 (GRCm39) probably null Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alkbh3 G A 2: 93,838,881 (GRCm39) probably benign Het
Ankrd22 A T 19: 34,101,569 (GRCm39) probably null Het
Anks1b A G 10: 90,096,618 (GRCm39) D425G probably damaging Het
Arid2 A G 15: 96,254,790 (GRCm39) D212G probably benign Het
Bbx A T 16: 50,071,751 (GRCm39) S225T probably benign Het
Bivm T A 1: 44,166,028 (GRCm39) probably null Het
Bpifb3 A G 2: 153,767,773 (GRCm39) Y282C probably benign Het
Cacna1h A T 17: 25,597,793 (GRCm39) I1767N probably damaging Het
Ccdc28a G T 10: 18,100,719 (GRCm39) S36* probably null Het
Ccser2 A G 14: 36,662,465 (GRCm39) S240P probably damaging Het
Ceacam1 A T 7: 25,171,421 (GRCm39) S348T probably benign Het
Ddx49 C T 8: 70,749,934 (GRCm39) G161D probably damaging Het
Dhx16 A G 17: 36,193,864 (GRCm39) E353G possibly damaging Het
Dnaaf6rt A T 1: 31,262,432 (GRCm39) D138V probably damaging Het
Etv2 A G 7: 30,334,036 (GRCm39) probably null Het
Extl1 T C 4: 134,090,441 (GRCm39) T345A probably benign Het
Fam163a A T 1: 155,954,741 (GRCm39) S137T probably benign Het
Fsd1l T C 4: 53,694,742 (GRCm39) C388R probably damaging Het
Galnt18 A C 7: 111,112,757 (GRCm39) V470G probably benign Het
Grin2b T A 6: 135,749,397 (GRCm39) I602F probably damaging Het
Gucy1b1 G T 3: 81,954,020 (GRCm39) probably null Het
Hace1 T C 10: 45,494,643 (GRCm39) V151A probably benign Het
Hadhb T A 5: 30,379,929 (GRCm39) D258E probably benign Het
Heatr1 C T 13: 12,447,545 (GRCm39) T1746I probably benign Het
Hrnr T C 3: 93,239,469 (GRCm39) S3236P unknown Het
Kcnd1 G C X: 7,690,148 (GRCm39) A23P probably damaging Homo
Kiz C A 2: 146,731,417 (GRCm39) D302E probably damaging Het
Kng2 A T 16: 22,806,343 (GRCm39) W619R probably damaging Het
Mfap3l C A 8: 61,124,841 (GRCm39) T361K probably damaging Het
Mlec T C 5: 115,288,376 (GRCm39) H160R probably benign Het
Myo16 T C 8: 10,365,494 (GRCm39) L89P probably benign Het
Neb T C 2: 52,114,564 (GRCm39) I4232V probably benign Het
Nf1 A G 11: 79,302,433 (GRCm39) I334V possibly damaging Het
Nipbl A C 15: 8,347,867 (GRCm39) F1942V probably damaging Het
Or2ag17 A T 7: 106,389,665 (GRCm39) I181N probably benign Het
Or4a70 C A 2: 89,324,066 (GRCm39) V197F probably damaging Het
Or4c11c T C 2: 88,661,655 (GRCm39) S65P probably damaging Het
Or51a10 A G 7: 103,698,902 (GRCm39) Y220H probably damaging Het
Pabpc2 G T 18: 39,907,772 (GRCm39) A346S probably damaging Het
Paxip1 T C 5: 27,971,171 (GRCm39) T393A unknown Het
Pcdhgb5 A T 18: 37,864,981 (GRCm39) T259S probably benign Het
Pfkp A T 13: 6,669,224 (GRCm39) L253H probably benign Het
Piezo1 T C 8: 123,215,869 (GRCm39) D1428G probably benign Het
Pkd1l2 T G 8: 117,808,209 (GRCm39) D105A probably damaging Het
Pou2f1 G T 1: 165,707,889 (GRCm39) probably benign Het
Ppfia4 T C 1: 134,256,921 (GRCm39) E100G probably damaging Het
Ppp1r15a G T 7: 45,173,446 (GRCm39) T454K probably damaging Het
Prpsap1 A T 11: 116,362,239 (GRCm39) I381N probably damaging Het
Ptx3 T A 3: 66,132,265 (GRCm39) V262E probably damaging Het
Rab21 A T 10: 115,130,831 (GRCm39) H158Q probably benign Het
Rasa2 A G 9: 96,426,357 (GRCm39) S830P probably damaging Het
Rdh1 G A 10: 127,600,622 (GRCm39) S215N probably benign Het
Rhot1 G A 11: 80,141,885 (GRCm39) R463H probably benign Het
Rsf1 CG CGACGGCGGGG 7: 97,229,115 (GRCm39) probably benign Het
Sart3 C T 5: 113,881,267 (GRCm39) A938T probably benign Het
Selenom A T 11: 3,464,915 (GRCm39) probably benign Het
Selenop T C 15: 3,308,947 (GRCm39) C300R probably damaging Het
Skint1 T A 4: 111,878,679 (GRCm39) S204T probably benign Het
Ss18l1 A G 2: 179,703,706 (GRCm39) N313S unknown Het
Sycp2l A G 13: 41,295,200 (GRCm39) D289G probably damaging Het
Terf1 C T 1: 15,889,221 (GRCm39) H188Y probably benign Het
Tmem116 C T 5: 121,629,171 (GRCm39) T188M probably benign Het
Trdn A G 10: 33,181,065 (GRCm39) T357A probably damaging Het
Trip11 A C 12: 101,856,859 (GRCm39) M401R probably benign Het
Ubald2 A C 11: 116,325,211 (GRCm39) D26A probably benign Het
Ube2w C G 1: 16,689,508 (GRCm39) probably benign Het
Vmn2r101 T A 17: 19,811,267 (GRCm39) S450R probably benign 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
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
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'- TCAAGGTAGGCAGCAGATTAAC -3'
(R):5'- ACTTAAAGTCCGGAAGCTTCC -3'

Sequencing Primer
(F):5'- GCAGCAGATTAACAATCGTGCTTG -3'
(R):5'- AAGCTTCCGGGGAACTGAC -3'
Posted On 2018-02-27