Incidental Mutation 'R7694:Fitm2'
ID 593528
Institutional Source Beutler Lab
Gene Symbol Fitm2
Ensembl Gene ENSMUSG00000048486
Gene Name fat storage-inducing transmembrane protein 2
Synonyms D930001I22Rik, Fit2
MMRRC Submission 045757-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7694 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 163310623-163314549 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 163311892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 107 (C107Y)
Ref Sequence ENSEMBL: ENSMUSP00000105045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109418]
AlphaFold P59266
Predicted Effect probably damaging
Transcript: ENSMUST00000109418
AA Change: C107Y

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105045
Gene: ENSMUSG00000048486
AA Change: C107Y

DomainStartEndE-ValueType
Pfam:Scs3p 45 190 2.2e-23 PFAM
transmembrane domain 220 239 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FIT2 belongs to an evolutionarily conserved family of proteins involved in fat storage (Kadereit et al., 2008 [PubMed 18160536]).[supplied by OMIM, May 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn T G 17: 14,109,144 (GRCm39) S1571A probably damaging Het
Agbl1 C A 7: 76,348,513 (GRCm39) A870D unknown Het
Alpl C T 4: 137,471,120 (GRCm39) G339R probably damaging Het
Ankrd55 T C 13: 112,504,498 (GRCm39) Y415H probably damaging Het
Cd69 G A 6: 129,247,008 (GRCm39) R111C possibly damaging Het
Cdh26 A T 2: 178,101,896 (GRCm39) T172S probably damaging Het
Cflar T A 1: 58,791,966 (GRCm39) V423E Het
Cgrrf1 A C 14: 47,091,415 (GRCm39) Q313P possibly damaging Het
Chga G A 12: 102,527,606 (GRCm39) A87T probably benign Het
Chrna4 T A 2: 180,660,386 (GRCm39) D102V Het
Cpvl A T 6: 53,909,502 (GRCm39) Y211* probably null Het
Cyp26a1 G A 19: 37,689,512 (GRCm39) D403N possibly damaging Het
Dchs2 T C 3: 83,036,789 (GRCm39) L512P probably damaging Het
Dll3 A C 7: 28,001,170 (GRCm39) M1R probably null Het
Dnah12 A G 14: 26,503,337 (GRCm39) T1564A probably damaging Het
Efhb A G 17: 53,707,836 (GRCm39) S776P probably damaging Het
Eml5 T C 12: 98,758,822 (GRCm39) S1831G probably damaging Het
Fat1 G T 8: 45,441,967 (GRCm39) probably null Het
Fhad1 T C 4: 141,632,375 (GRCm39) K1255E probably benign Het
Gdpd4 T C 7: 97,621,146 (GRCm39) V153A probably benign Het
Ggnbp2 A G 11: 84,751,539 (GRCm39) V87A possibly damaging Het
Glb1l G T 1: 75,178,436 (GRCm39) A334E probably damaging Het
Gnas T G 2: 174,142,005 (GRCm39) L784R probably damaging Het
Gtf2i C T 5: 134,311,659 (GRCm39) E223K probably damaging Het
H2-M10.5 T C 17: 37,084,641 (GRCm39) Y122H probably damaging Het
Hikeshi G A 7: 89,579,554 (GRCm39) Q6* probably null Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Irak2 A C 6: 113,667,859 (GRCm39) D528A probably damaging Het
Lcn2 A G 2: 32,278,042 (GRCm39) C17R unknown Het
Lcp2 G T 11: 34,000,924 (GRCm39) V36L probably benign Het
Lin7c T C 2: 109,726,617 (GRCm39) S89P probably benign Het
Lrrc37a C T 11: 103,395,204 (GRCm39) A74T probably benign Het
Lrrtm3 T A 10: 63,923,818 (GRCm39) M450L probably benign Het
Lsm11 C T 11: 45,824,768 (GRCm39) R253Q probably benign Het
Map9 A T 3: 82,266,290 (GRCm39) probably benign Het
Mmp2 T A 8: 93,558,358 (GRCm39) D142E possibly damaging Het
Nrn1l A T 8: 106,621,430 (GRCm39) T127S probably damaging Het
Or14c46 T C 7: 85,918,983 (GRCm39) T5A probably damaging Het
Pelp1 G A 11: 70,285,585 (GRCm39) T761I probably damaging Het
Pmm2 T A 16: 8,463,254 (GRCm39) V63E probably damaging Het
Ptprb T A 10: 116,208,853 (GRCm39) L1942H probably damaging Het
Ptprk T A 10: 28,465,366 (GRCm39) C1350S possibly damaging Het
Rnf44 A G 13: 54,829,841 (GRCm39) V381A probably damaging Het
Robo3 G A 9: 37,329,816 (GRCm39) P1167S probably benign Het
Ryk A G 9: 102,775,979 (GRCm39) E489G probably damaging Het
Satb2 T A 1: 56,910,683 (GRCm39) I321L probably benign Het
Sh2b1 A T 7: 126,066,929 (GRCm39) V655E probably benign Het
Slc16a12 G A 19: 34,648,035 (GRCm39) T486M probably damaging Het
Slc34a1 G T 13: 55,561,221 (GRCm39) R562L probably benign Het
Slc4a9 A G 18: 36,669,902 (GRCm39) E779G probably damaging Het
Strc C A 2: 121,207,577 (GRCm39) C598F probably damaging Het
Stxbp6 A T 12: 44,948,810 (GRCm39) F100I probably damaging Het
Tap2 A G 17: 34,424,671 (GRCm39) T135A probably benign Het
Tmcc1 G A 6: 116,110,805 (GRCm39) P159S Het
Tmem106b T A 6: 13,078,105 (GRCm39) M100K probably benign Het
Ttn T A 2: 76,578,039 (GRCm39) T24285S probably damaging Het
Vmn1r116 G A 7: 20,606,337 (GRCm39) V53M possibly damaging Het
Zar1 A T 5: 72,738,193 (GRCm39) S70T probably benign Het
Zfp235 C T 7: 23,841,525 (GRCm39) T648M probably benign Het
Zfp937 C T 2: 150,081,268 (GRCm39) H433Y probably damaging Het
Other mutations in Fitm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Fitm2 APN 2 163,311,712 (GRCm39) missense probably benign 0.03
IGL03227:Fitm2 APN 2 163,311,452 (GRCm39) missense probably benign 0.00
R0481:Fitm2 UTSW 2 163,311,634 (GRCm39) missense probably benign 0.21
R0846:Fitm2 UTSW 2 163,311,734 (GRCm39) missense probably benign 0.00
R1595:Fitm2 UTSW 2 163,311,610 (GRCm39) missense probably benign 0.12
R2205:Fitm2 UTSW 2 163,314,516 (GRCm39) start gained probably benign
R2208:Fitm2 UTSW 2 163,314,604 (GRCm39) unclassified probably benign
R3113:Fitm2 UTSW 2 163,311,511 (GRCm39) missense probably damaging 1.00
R4559:Fitm2 UTSW 2 163,314,593 (GRCm39) unclassified probably benign
R6052:Fitm2 UTSW 2 163,312,036 (GRCm39) missense probably damaging 1.00
R6150:Fitm2 UTSW 2 163,311,994 (GRCm39) missense probably damaging 1.00
R7469:Fitm2 UTSW 2 163,311,742 (GRCm39) missense probably damaging 1.00
R7774:Fitm2 UTSW 2 163,311,986 (GRCm39) missense probably damaging 0.99
R7833:Fitm2 UTSW 2 163,312,019 (GRCm39) missense probably damaging 1.00
R8128:Fitm2 UTSW 2 163,311,568 (GRCm39) missense probably benign 0.19
R8443:Fitm2 UTSW 2 163,311,768 (GRCm39) missense probably benign 0.17
R8867:Fitm2 UTSW 2 163,311,602 (GRCm39) missense possibly damaging 0.87
R9631:Fitm2 UTSW 2 163,311,757 (GRCm39) missense probably damaging 1.00
Z1088:Fitm2 UTSW 2 163,311,785 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CAATCATGAGCGCACAGAAG -3'
(R):5'- TCCCTTGGGAACATGATGAC -3'

Sequencing Primer
(F):5'- CATGAGCGCACAGAAGGTCAAG -3'
(R):5'- GGGAACATGATGACACTGTTTCC -3'
Posted On 2019-11-12