Incidental Mutation 'IGL02802:Fhl2'
ID 392061
Institutional Source Beutler Lab
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 # IGL02802 (G1)
Quality Score 208
Status Validated
Chromosome 1
Chromosomal Location 43162234-43236144 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 43162761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 251 (C251*)
Ref Sequence ENSEMBL: ENSMUSP00000141170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008280] [ENSMUST00000185893]
AlphaFold O70433
Predicted Effect probably null
Transcript: ENSMUST00000008280
AA Change: C251*
SMART Domains Protein: ENSMUSP00000008280
Gene: ENSMUSG00000008136
AA Change: C251*

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 null
Transcript: ENSMUST00000185893
AA Change: C251*
SMART Domains Protein: ENSMUSP00000141170
Gene: ENSMUSG00000008136
AA Change: C251*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 100% (63/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 A C 1: 130,671,130 (GRCm39) T451P probably benign Het
Actbl2 A G 13: 111,392,310 (GRCm39) E215G probably damaging Het
Adh6b A G 3: 138,058,545 (GRCm39) T198A possibly damaging Het
Bicd2 A G 13: 49,531,804 (GRCm39) K349E probably damaging Het
Bsnd T A 4: 106,349,231 (GRCm39) D3V probably damaging Het
Cd83 T A 13: 43,953,147 (GRCm39) L142Q probably null Het
Cdh20 A G 1: 110,065,655 (GRCm39) E643G probably damaging Het
Ces1b T G 8: 93,783,594 (GRCm39) E542A possibly damaging Het
Cfhr2 A G 1: 139,738,762 (GRCm39) probably benign Het
Clip1 T C 5: 123,769,186 (GRCm39) D471G probably damaging Het
Cntn5 C A 9: 10,048,683 (GRCm39) probably null Het
Cntnap2 A T 6: 46,147,179 (GRCm39) D475V probably damaging Het
Cntnap5c T C 17: 58,612,679 (GRCm39) F906S probably benign Het
Cobll1 A T 2: 64,928,663 (GRCm39) S888T probably damaging Het
Csf2rb G A 15: 78,223,103 (GRCm39) R105Q probably benign Het
Ctnnd1 C A 2: 84,454,806 (GRCm39) M1I probably null Het
Cxxc1 C T 18: 74,352,481 (GRCm39) Q354* probably null Het
Dnhd1 A G 7: 105,304,930 (GRCm39) D324G possibly damaging Het
Donson T C 16: 91,478,196 (GRCm39) D435G possibly damaging Het
Ephb1 T C 9: 101,887,218 (GRCm39) K474E possibly damaging Het
Erbin A G 13: 104,004,638 (GRCm39) L130P probably damaging Het
Fam221a C T 6: 49,355,411 (GRCm39) T171I probably damaging Het
Farp2 A G 1: 93,456,332 (GRCm39) E5G probably damaging Het
Fblim1 A G 4: 141,317,431 (GRCm39) S85P possibly damaging Het
Glis2 T C 16: 4,429,735 (GRCm39) probably null Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gm10717 C T 9: 3,031,999 (GRCm39) P127S probably benign Het
Heatr6 T C 11: 83,651,762 (GRCm39) L246P probably damaging Het
Igkv5-39 G A 6: 69,877,457 (GRCm39) P100S probably benign Het
Jup T C 11: 100,269,204 (GRCm39) D403G probably benign Het
Kank1 T C 19: 25,388,963 (GRCm39) Y879H probably damaging Het
Kcna3 G A 3: 106,944,369 (GRCm39) E211K probably damaging Het
Klc3 A T 7: 19,129,049 (GRCm39) I440N possibly damaging Het
Mmp1b T C 9: 7,384,709 (GRCm39) T280A probably benign Het
Nat3 A T 8: 68,000,160 (GRCm39) Q13L probably benign Het
Nckap1l A G 15: 103,372,963 (GRCm39) N272S probably benign Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Nsd3 T C 8: 26,130,922 (GRCm39) S96P probably damaging Het
Ntaq1 A G 15: 58,011,833 (GRCm39) S65G probably benign Het
Nudt16l1 C T 16: 4,757,131 (GRCm39) R43C probably damaging Het
Obscn T A 11: 58,891,310 (GRCm39) Q7074L unknown Het
Or4p20 A G 2: 88,253,832 (GRCm39) V179A probably benign Het
Or5m12 A G 2: 85,734,733 (GRCm39) S222P probably damaging Het
Or5p78 A T 7: 108,211,669 (GRCm39) I52F probably damaging Het
Or6c206 T A 10: 129,097,136 (GRCm39) probably null Het
Or8b37 T G 9: 37,959,345 (GRCm39) Y276D probably damaging Het
Or8k30 T A 2: 86,339,290 (GRCm39) N162K probably benign Het
P4htm C T 9: 108,460,055 (GRCm39) D240N probably benign Het
Plekhm2 A T 4: 141,369,835 (GRCm39) probably benign Het
Plppr5 T C 3: 117,456,228 (GRCm39) S250P probably damaging Het
Pmis2 T C 7: 30,370,919 (GRCm39) K12E probably benign Het
Ppox A T 1: 171,105,066 (GRCm39) L374* probably null Het
Rcc1 C T 4: 132,065,067 (GRCm39) R139H probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Tdo2 A G 3: 81,883,004 (GRCm39) probably benign Het
Tent2 A T 13: 93,285,449 (GRCm39) N436K probably damaging Het
Thbs2 A G 17: 14,904,389 (GRCm39) I326T probably benign Het
Thrap3 T C 4: 126,059,157 (GRCm39) probably benign Het
Ttc6 A T 12: 57,622,654 (GRCm39) M18L probably benign Het
Ttn C T 2: 76,604,924 (GRCm39) V18337I probably damaging Het
Txndc2 A G 17: 65,946,601 (GRCm39) S34P possibly damaging Het
Vps72 T A 3: 95,026,545 (GRCm39) C163* probably null Het
Zfp831 T A 2: 174,486,945 (GRCm39) I540N possibly damaging 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
IGL03330:Fhl2 APN 1 43,192,351 (GRCm39) missense probably damaging 1.00
IGL02799:Fhl2 UTSW 1 43,167,562 (GRCm39) missense probably benign 0.28
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
Predicted Primers PCR Primer
(F):5'- TTCAACAAATGTGAAGCCAGG -3'
(R):5'- AGCGGGCTCAAACATTGAAG -3'

Sequencing Primer
(F):5'- TGTGAAGCCAGGGCAGC -3'
(R):5'- GCTCAAACATTGAAGTGGATCGCTC -3'
Posted On 2016-06-09