Incidental Mutation 'R7143:Fhl2'
ID553506
Institutional Source Beutler Lab
Gene Symbol Fhl2
Ensembl Gene ENSMUSG00000008136
Gene Namefour and a half LIM domains 2
SynonymsSLIM3
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7143 (G1)
Quality Score225.009
Status Not validated
Chromosome1
Chromosomal Location43123074-43196984 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 43141851 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 60 (H60N)
Ref Sequence ENSEMBL: ENSMUSP00000008280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008280] [ENSMUST00000185893] [ENSMUST00000187357]
Predicted Effect probably damaging
Transcript: ENSMUST00000008280
AA Change: H60N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008280
Gene: ENSMUSG00000008136
AA Change: H60N

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: H60N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141170
Gene: ENSMUSG00000008136
AA Change: H60N

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930516K23Rik C T 7: 104,059,215 C129Y probably damaging Het
Agbl4 A G 4: 111,617,136 N374S probably damaging Het
Agl A G 3: 116,792,021 S153P probably damaging Het
Akap6 T G 12: 52,887,364 D546E probably benign Het
Ankrd17 C A 5: 90,285,961 A650S possibly damaging Het
Ankrd53 A G 6: 83,762,911 R16G possibly damaging Het
Apba2 T C 7: 64,744,417 L570P probably damaging Het
Asap1 A G 15: 64,191,528 F101L probably damaging Het
Cadm4 T A 7: 24,499,567 I89N possibly damaging Het
Cadps C T 14: 12,491,838 V771I probably benign Het
Cenph A G 13: 100,761,777 V206A possibly damaging Het
Cenpn A G 8: 116,937,227 T253A probably benign Het
Cep120 C T 18: 53,683,385 G939R probably benign Het
Cfap57 G A 4: 118,620,709 probably benign Het
Clip1 T C 5: 123,653,610 I166V probably benign Het
Cstf3 T A 2: 104,646,616 V144E probably benign Het
Cyp21a1 T A 17: 34,802,326 H357L probably damaging Het
Cyth3 T A 5: 143,684,396 V12E unknown Het
Dgat2 T C 7: 99,157,124 I289V probably benign Het
Dip2a A G 10: 76,297,791 C527R probably damaging Het
Dnah17 A C 11: 118,086,130 W1879G probably damaging Het
Dnaic2 A G 11: 114,754,250 T504A possibly damaging Het
Efl1 C T 7: 82,762,680 P759L probably damaging Het
Egfr A C 11: 16,871,627 I351L probably benign Het
Ercc6 G A 14: 32,570,305 E1209K probably damaging Het
Fam135b A T 15: 71,479,151 M292K probably benign Het
Fbxl7 C A 15: 26,543,158 V468L probably benign Het
G6pc G T 11: 101,370,723 R83L probably damaging Het
Gata4 C A 14: 63,204,617 R252L probably damaging Het
Glt8d1 T A 14: 31,006,645 I10N probably damaging Het
Gm10471 T A 5: 26,085,676 I166F probably benign Het
Gm10803 T A 2: 93,563,959 Y25* probably null Het
Gm19345 T C 7: 19,857,834 F108S unknown Het
Gm4952 A G 19: 12,618,407 T54A possibly damaging Het
Gprc6a C T 10: 51,614,890 R921H probably benign Het
Hc A T 2: 35,050,438 H129Q probably benign Het
Heatr5a T C 12: 51,961,468 R31G probably benign Het
Hephl1 T C 9: 15,060,810 K945E possibly damaging Het
Ik G T 18: 36,751,177 M237I probably damaging Het
Izumo1 T A 7: 45,627,095 S361T probably benign Het
Kcnq4 A G 4: 120,711,239 F427L probably benign Het
Kifap3 A T 1: 163,825,859 N338I possibly damaging Het
Kifap3 T A 1: 163,856,040 M430K possibly damaging Het
Lamb3 A G 1: 193,304,565 E53G probably damaging Het
Lrp1b A T 2: 41,312,643 I1266K Het
Nat8 A T 6: 85,830,503 I216K probably benign Het
Ncapd2 T C 6: 125,179,561 I454V probably benign Het
Nlrp4f A T 13: 65,195,306 V153E probably damaging Het
Nlrp4f G C 13: 65,199,352 Q9E possibly damaging Het
Npy2r A T 3: 82,540,943 I175N probably benign Het
Nutm1 G A 2: 112,250,056 R505C probably damaging Het
Olfr1247 T C 2: 89,610,019 M28V probably benign Het
Olfr364-ps1 A G 2: 37,146,874 T221A probably benign Het
Olfr665 C T 7: 104,881,186 P160S probably damaging Het
Pcdh9 T C 14: 93,888,272 N154S probably damaging Het
Pcdhb2 A T 18: 37,295,881 E302D probably benign Het
Pclo T A 5: 14,858,822 V5048E unknown Het
Pcnt A G 10: 76,389,060 L1870S possibly damaging Het
Pigc T C 1: 161,970,592 Y48H probably damaging Het
Pisd C T 5: 32,738,502 V241I possibly damaging Het
Pkhd1l1 A T 15: 44,573,637 M3464L possibly damaging Het
Pofut2 T A 10: 77,259,426 I35N probably benign Het
Prss27 A G 17: 24,045,658 Y265C probably damaging Het
Prss56 T A 1: 87,188,153 I583K probably benign Het
Rnpep T C 1: 135,283,749 E87G probably benign Het
Shtn1 T C 19: 59,018,906 H304R probably damaging Het
Slc23a4 A T 6: 34,978,913 I62N probably damaging Het
Slc35e2 A T 4: 155,618,594 I355F probably benign Het
Snx25 T C 8: 46,035,715 I868V possibly damaging Het
Spatc1l T A 10: 76,569,931 L323Q probably damaging Het
Taok1 A G 11: 77,537,988 V962A probably benign Het
Tas2r140 A G 6: 133,055,519 I92T probably benign Het
Trim17 C A 11: 58,965,184 Y22* probably null Het
Tti1 T A 2: 158,007,676 M548L probably benign Het
Unc93b1 T C 19: 3,935,204 V4A unknown Het
Utp3 G C 5: 88,554,517 probably benign Het
Vmn1r225 A T 17: 20,502,384 Y29F probably benign Het
Vmn1r34 A T 6: 66,637,664 I30N probably benign Het
Vmn2r67 T A 7: 85,152,638 M152L probably benign Het
Wdr20rt T G 12: 65,225,918 F52V probably benign Het
Zfp869 G T 8: 69,706,656 H422Q probably damaging Het
Other mutations in Fhl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Fhl2 APN 1 43131681 missense probably benign 0.37
IGL01941:Fhl2 APN 1 43131672 nonsense probably null
IGL02216:Fhl2 APN 1 43131719 missense probably null 0.84
IGL02335:Fhl2 APN 1 43128390 nonsense probably null
IGL02800:Fhl2 APN 1 43128402 missense probably benign 0.28
IGL03330:Fhl2 APN 1 43153191 missense probably damaging 1.00
IGL02799:Fhl2 UTSW 1 43128402 missense probably benign 0.28
IGL02802:Fhl2 UTSW 1 43123601 nonsense probably null
R0103:Fhl2 UTSW 1 43153221 missense probably benign 0.00
R0103:Fhl2 UTSW 1 43153221 missense probably benign 0.00
R0938:Fhl2 UTSW 1 43141706 missense possibly damaging 0.83
R6459:Fhl2 UTSW 1 43123653 missense possibly damaging 0.85
R6676:Fhl2 UTSW 1 43131810 missense possibly damaging 0.83
R7048:Fhl2 UTSW 1 43123648 missense probably damaging 1.00
X0019:Fhl2 UTSW 1 43128409 missense possibly damaging 0.73
X0021:Fhl2 UTSW 1 43153143 missense probably benign
X0028:Fhl2 UTSW 1 43128300 missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- CGAATGATAAAGGCATGCGTTC -3'
(R):5'- TCTCAGAAACAAGGCCTCCTAG -3'

Sequencing Primer
(F):5'- TAAAGGCATGCGTTCTGACC -3'
(R):5'- AAGGCCTCCTAGTTCAGTGTCTAAG -3'
Posted On2019-05-15