Incidental Mutation 'IGL03330:Fhl2'
ID 416846
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fhl2
Ensembl Gene ENSMUSG00000008136
Gene Name four and a half LIM domains 2
Synonyms SLIM3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03330
Quality Score
Status
Chromosome 1
Chromosomal Location 43162234-43236144 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43192351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 14 (L14P)
Ref Sequence ENSEMBL: ENSMUSP00000141170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008280] [ENSMUST00000185893] [ENSMUST00000187357]
AlphaFold O70433
Predicted Effect probably damaging
Transcript: ENSMUST00000008280
AA Change: L14P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008280
Gene: ENSMUSG00000008136
AA Change: L14P

DomainStartEndE-ValueType
LIM 39 92 1.35e-11 SMART
LIM 100 153 5.22e-18 SMART
LIM 161 212 3.29e-15 SMART
LIM 220 275 1.01e-15 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000185893
AA Change: L14P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141170
Gene: ENSMUSG00000008136
AA Change: L14P

DomainStartEndE-ValueType
LIM 39 92 1.35e-11 SMART
LIM 100 153 5.22e-18 SMART
LIM 161 212 3.29e-15 SMART
LIM 220 275 1.01e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187357
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the four-and-a-half-LIM-only protein family. The encoded protein functions as a regulator in numerous signaling pathways and cellular processes in development and cellular differentiation, including development and maintenance of the cardiovascular system and striated muscles. This gene also plays a role in bone formation and regulates and bone mineral content and bone mineral density. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation display osteopenia and osteoporosis; cardiovascular development is normal but cardiac hypertrophy develops in mutants in response to beta-adrenergic stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,050,254 (GRCm39) I837V probably damaging Het
Actr2 A G 11: 20,041,330 (GRCm39) V138A probably benign Het
Adam30 G A 3: 98,069,772 (GRCm39) C535Y probably damaging Het
Bcor G A X: 11,925,110 (GRCm39) T162I possibly damaging Het
Catsperd C A 17: 56,939,316 (GRCm39) N48K possibly damaging Het
Ccr2 T C 9: 123,905,996 (GRCm39) I92T probably damaging Het
Cp A G 3: 20,020,599 (GRCm39) I197M probably damaging Het
Cpne3 T A 4: 19,553,774 (GRCm39) T86S possibly damaging Het
Dnm3 A T 1: 162,148,560 (GRCm39) D270E probably benign Het
Enpp1 C T 10: 24,540,804 (GRCm39) probably benign Het
Ephx1 A G 1: 180,827,371 (GRCm39) V94A possibly damaging Het
Fbxw25 T C 9: 109,474,307 (GRCm39) M448V probably benign Het
Gabra4 T C 5: 71,798,407 (GRCm39) R191G probably null Het
Gtpbp6 T C 5: 110,254,929 (GRCm39) T151A possibly damaging Het
Lars1 T A 18: 42,353,009 (GRCm39) M803L probably benign Het
Myc A G 15: 61,859,998 (GRCm39) T224A probably benign Het
Noxa1 T A 2: 24,980,526 (GRCm39) D161V possibly damaging Het
Or2w3b A C 11: 58,623,745 (GRCm39) L82R probably damaging Het
Or4l1 C T 14: 50,166,678 (GRCm39) G108R probably damaging Het
Or8g52 C T 9: 39,630,784 (GRCm39) T87I probably benign Het
Peg3 G T 7: 6,713,412 (GRCm39) N603K probably damaging Het
Rhox4c G T X: 36,662,181 (GRCm39) G15V probably benign Het
Sgcb T A 5: 73,797,212 (GRCm39) S183C probably damaging Het
Slc6a19 T A 13: 73,837,679 (GRCm39) I239F possibly damaging Het
Socs7 T C 11: 97,269,378 (GRCm39) Y399H probably damaging Het
Stc2 T C 11: 31,319,804 (GRCm39) D20G probably benign Het
Tmem184b A T 15: 79,254,179 (GRCm39) probably null Het
Tpo A G 12: 30,153,500 (GRCm39) S285P probably damaging Het
Vmn2r27 G T 6: 124,207,139 (GRCm39) Y167* probably null Het
Other mutations in Fhl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Fhl2 APN 1 43,170,841 (GRCm39) missense probably benign 0.37
IGL01941:Fhl2 APN 1 43,170,832 (GRCm39) nonsense probably null
IGL02216:Fhl2 APN 1 43,170,879 (GRCm39) missense probably null 0.84
IGL02335:Fhl2 APN 1 43,167,550 (GRCm39) nonsense probably null
IGL02800:Fhl2 APN 1 43,167,562 (GRCm39) missense probably benign 0.28
IGL02799:Fhl2 UTSW 1 43,167,562 (GRCm39) missense probably benign 0.28
IGL02802:Fhl2 UTSW 1 43,162,761 (GRCm39) nonsense probably null
R0103:Fhl2 UTSW 1 43,192,381 (GRCm39) missense probably benign 0.00
R0103:Fhl2 UTSW 1 43,192,381 (GRCm39) missense probably benign 0.00
R0938:Fhl2 UTSW 1 43,180,866 (GRCm39) missense possibly damaging 0.83
R6459:Fhl2 UTSW 1 43,162,813 (GRCm39) missense possibly damaging 0.85
R6676:Fhl2 UTSW 1 43,170,970 (GRCm39) missense possibly damaging 0.83
R7048:Fhl2 UTSW 1 43,162,808 (GRCm39) missense probably damaging 1.00
R7143:Fhl2 UTSW 1 43,181,011 (GRCm39) missense probably damaging 1.00
R7853:Fhl2 UTSW 1 43,180,984 (GRCm39) missense probably damaging 0.96
R8695:Fhl2 UTSW 1 43,167,571 (GRCm39) missense probably damaging 0.97
R8774:Fhl2 UTSW 1 43,162,751 (GRCm39) missense probably damaging 0.98
R8774-TAIL:Fhl2 UTSW 1 43,162,751 (GRCm39) missense probably damaging 0.98
R9250:Fhl2 UTSW 1 43,167,422 (GRCm39) missense probably damaging 1.00
R9616:Fhl2 UTSW 1 43,167,546 (GRCm39) missense probably damaging 1.00
X0019:Fhl2 UTSW 1 43,167,569 (GRCm39) missense possibly damaging 0.73
X0021:Fhl2 UTSW 1 43,192,303 (GRCm39) missense probably benign
X0028:Fhl2 UTSW 1 43,167,460 (GRCm39) missense probably benign 0.09
Posted On 2016-08-02