Incidental Mutation 'R7048:Fhl2'
ID 547402
Institutional Source Beutler Lab
Gene Symbol Fhl2
Ensembl Gene ENSMUSG00000008136
Gene Name four and a half LIM domains 2
Synonyms SLIM3
MMRRC Submission 045146-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7048 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 43162234-43236144 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43162808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 236 (Y236H)
Ref Sequence ENSEMBL: ENSMUSP00000141170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008280] [ENSMUST00000185893]
AlphaFold O70433
Predicted Effect probably damaging
Transcript: ENSMUST00000008280
AA Change: Y236H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008280
Gene: ENSMUSG00000008136
AA Change: Y236H

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: Y236H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141170
Gene: ENSMUSG00000008136
AA Change: Y236H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 97% (66/68)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl2 T C 3: 148,552,565 (GRCm39) D629G probably damaging Het
Akap11 T A 14: 78,749,954 (GRCm39) Q811L Het
Ank2 T A 3: 126,819,267 (GRCm39) Q468L probably benign Het
Ano3 A T 2: 110,513,116 (GRCm39) Y626* probably null Het
Ap1m1 A G 8: 73,003,642 (GRCm39) N114S probably damaging Het
Asb3 T A 11: 31,051,121 (GRCm39) I525N probably damaging Het
Atg4a-ps A G 3: 103,552,672 (GRCm39) I223T probably damaging Het
B3gnt7 T C 1: 86,233,308 (GRCm39) Y68H probably benign Het
Bbs5 T C 2: 69,484,705 (GRCm39) I125T probably benign Het
Cd180 A G 13: 102,841,431 (GRCm39) N159S probably damaging Het
Cd37 T C 7: 44,887,888 (GRCm39) probably benign Het
Cdk14 T A 5: 5,143,005 (GRCm39) Q242L probably damaging Het
Clcn1 T C 6: 42,284,477 (GRCm39) V605A probably damaging Het
Cped1 G A 6: 22,119,469 (GRCm39) M309I probably benign Het
Cyp2r1 A T 7: 114,151,971 (GRCm39) Y120N probably damaging Het
Ddx3y A T Y: 1,279,491 (GRCm39) S124R probably benign Het
Dlec1 A T 9: 118,972,472 (GRCm39) probably null Het
Dnah17 T C 11: 117,936,944 (GRCm39) E3420G possibly damaging Het
Dnajc13 C T 9: 104,080,613 (GRCm39) probably null Het
Dusp23 A T 1: 172,459,253 (GRCm39) Y136* probably null Het
Eif4b A G 15: 102,001,571 (GRCm39) probably benign Het
F13a1 A G 13: 37,082,117 (GRCm39) V529A probably benign Het
Gm826 C T 2: 160,169,026 (GRCm39) W94* probably null Het
Gpsm2 C T 3: 108,610,361 (GRCm39) R33H probably damaging Het
Hmcn1 T C 1: 150,475,404 (GRCm39) probably null Het
Ifit1bl2 T C 19: 34,596,551 (GRCm39) D355G probably benign Het
Itga8 A G 2: 12,115,895 (GRCm39) V77A probably damaging Het
Kcmf1 C T 6: 72,826,450 (GRCm39) R40K probably damaging Het
Kdm7a T C 6: 39,145,982 (GRCm39) E315G probably damaging Het
Kmt2b C T 7: 30,268,731 (GRCm39) G2666D probably damaging Het
Lrrtm1 A G 6: 77,221,152 (GRCm39) N203S probably damaging Het
Mdn1 A G 4: 32,767,969 (GRCm39) N5301D probably benign Het
Mest T G 6: 30,742,723 (GRCm39) H108Q probably damaging Het
Mettl25b A G 3: 87,837,167 (GRCm39) I36T probably damaging Het
Moxd1 C A 10: 24,157,374 (GRCm39) D335E probably damaging Het
Ncf2 A C 1: 152,683,921 (GRCm39) N47H probably benign Het
Npc1 A G 18: 12,337,822 (GRCm39) probably null Het
Or14j2 A T 17: 37,886,114 (GRCm39) S67T probably damaging Het
Pcid2 A G 8: 13,128,243 (GRCm39) V386A probably benign Het
Phactr2 T A 10: 13,121,168 (GRCm39) T444S probably benign Het
Plekha7 T C 7: 115,747,559 (GRCm39) N710D probably benign Het
Ppp1r16b C T 2: 158,599,174 (GRCm39) T382I probably benign Het
Pramel15 T C 4: 144,103,754 (GRCm39) D124G probably benign Het
Ptprz1 A T 6: 22,961,622 (GRCm39) Y111F probably benign Het
Rbbp8 A G 18: 11,865,277 (GRCm39) E722G possibly damaging Het
Rimbp3 A G 16: 17,028,190 (GRCm39) D538G probably benign Het
Rims1 A G 1: 22,511,901 (GRCm39) S551P probably damaging Het
Rsrc1 A G 3: 67,088,164 (GRCm39) D166G probably damaging Het
Selenon T C 4: 134,270,154 (GRCm39) N350S probably benign Het
Sh3gl2 T A 4: 85,295,802 (GRCm39) L168H probably damaging Het
Smc3 T C 19: 53,617,682 (GRCm39) Y560H probably benign Het
Syce1 C T 7: 140,359,281 (GRCm39) D147N possibly damaging Het
Syt10 A C 15: 89,675,008 (GRCm39) V446G probably damaging Het
Taar1 T C 10: 23,796,722 (GRCm39) L140P probably benign Het
Tfpi2 C A 6: 3,968,032 (GRCm39) C36F probably damaging Het
Thoc5 G A 11: 4,876,237 (GRCm39) probably null Het
Tnrc6c T A 11: 117,612,800 (GRCm39) N319K probably benign Het
Trhr2 C T 8: 123,085,418 (GRCm39) D189N probably damaging Het
Trim42 A T 9: 97,245,474 (GRCm39) F442Y probably damaging Het
Ubap2 G A 4: 41,196,033 (GRCm39) T949I possibly damaging Het
Ugt1a8 T C 1: 88,016,024 (GRCm39) F146L probably benign Het
Vmn2r80 C A 10: 79,030,153 (GRCm39) Q660K probably damaging Het
Vstm2b C T 7: 40,578,800 (GRCm39) T258I possibly damaging Het
Washc2 T C 6: 116,197,544 (GRCm39) L259P possibly damaging Het
Zscan18 A T 7: 12,508,671 (GRCm39) probably benign Het
Zzef1 T G 11: 72,757,525 (GRCm39) Y1193* 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
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
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
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'- TGGCTGGTGGGAATCAGAAC -3'
(R):5'- GCTCTCAGCTGCTTGTCTGAAG -3'

Sequencing Primer
(F):5'- CAGAACACAGCATTGCCTGGTTATG -3'
(R):5'- GCTCACTGCGCATGTGTC -3'
Posted On 2019-05-13