Incidental Mutation 'R4279:Pls3'
ID322825
Institutional Source Beutler Lab
Gene Symbol Pls3
Ensembl Gene ENSMUSG00000016382
Gene Nameplastin 3 (T-isoform)
SynonymsT-fimbrin
MMRRC Submission 041079-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock #R4279 (G1)
Quality Score222
Status Validated
ChromosomeX
Chromosomal Location75785654-75875182 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 75802532 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 192 (I192N)
Ref Sequence ENSEMBL: ENSMUSP00000118995 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033547] [ENSMUST00000114057] [ENSMUST00000114058] [ENSMUST00000114059] [ENSMUST00000137192]
Predicted Effect probably benign
Transcript: ENSMUST00000033547
AA Change: I192N

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000033547
Gene: ENSMUSG00000016382
AA Change: I192N

DomainStartEndE-ValueType
EFh 16 44 1.92e-3 SMART
EFh 56 84 6.01e-5 SMART
CH 125 237 2.59e-27 SMART
CH 269 376 2.36e-21 SMART
CH 399 504 3.63e-22 SMART
CH 520 625 3.02e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114057
AA Change: I192N

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109691
Gene: ENSMUSG00000016382
AA Change: I192N

DomainStartEndE-ValueType
EFh 16 44 1.92e-3 SMART
EFh 56 84 6.01e-5 SMART
CH 125 237 2.59e-27 SMART
CH 269 376 2.36e-21 SMART
CH 399 504 3.63e-22 SMART
CH 520 625 3.02e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114058
AA Change: I192N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000109692
Gene: ENSMUSG00000016382
AA Change: I192N

DomainStartEndE-ValueType
EFh 16 44 1.92e-3 SMART
EFh 56 84 6.01e-5 SMART
CH 125 237 2.59e-27 SMART
CH 269 385 1.83e-18 SMART
CH 408 513 3.63e-22 SMART
CH 529 634 3.02e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114059
AA Change: I192N

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109693
Gene: ENSMUSG00000016382
AA Change: I192N

DomainStartEndE-ValueType
EFh 16 44 1.92e-3 SMART
EFh 56 84 6.01e-5 SMART
CH 125 237 2.59e-27 SMART
CH 269 376 2.36e-21 SMART
CH 399 504 3.63e-22 SMART
CH 520 625 3.02e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137192
AA Change: I192N

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000118995
Gene: ENSMUSG00000016382
AA Change: I192N

DomainStartEndE-ValueType
EFh 16 44 1.92e-3 SMART
EFh 56 84 6.01e-5 SMART
CH 125 237 2.59e-27 SMART
CH 269 376 2.36e-21 SMART
CH 399 504 3.63e-22 SMART
CH 520 625 3.02e-19 SMART
Meta Mutation Damage Score 0.1171 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 98% (40/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Plastins are a family of actin-binding proteins that are conserved throughout eukaryote evolution and expressed in most tissues of higher eukaryotes. In humans, two ubiquitous plastin isoforms (L and T) have been identified. Plastin 1 (otherwise known as Fimbrin) is a third distinct plastin isoform which is specifically expressed at high levels in the small intestine. The L isoform is expressed only in hemopoietic cell lineages, while the T isoform has been found in all other normal cells of solid tissues that have replicative potential (fibroblasts, endothelial cells, epithelial cells, melanocytes, etc.). The C-terminal 570 amino acids of the T-plastin and L-plastin proteins are 83% identical. It contains a potential calcium-binding site near the N terminus. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 T A 15: 96,371,756 L1250Q probably damaging Het
Ccdc73 A T 2: 104,985,010 N364Y possibly damaging Het
Ccl25 T A 8: 4,349,829 L56Q probably damaging Het
Ctnnd2 C A 15: 30,905,820 A871E probably damaging Het
Cyp2b23 C T 7: 26,666,027 S461N possibly damaging Het
Dgat2 C A 7: 99,164,705 G120V probably damaging Het
Dsp A T 13: 38,185,231 I768F probably damaging Het
Dzank1 T C 2: 144,491,845 E356G probably benign Het
Fam120a A T 13: 48,889,258 V889D probably benign Het
Fxyd5 C A 7: 31,035,386 D139Y probably null Het
Gcnt2 T C 13: 40,888,190 V275A probably benign Het
Gimap4 A G 6: 48,690,577 I89V probably benign Het
Gm6578 G A 6: 12,100,188 noncoding transcript Het
Jmjd8 A G 17: 25,829,813 probably benign Het
Jmy G C 13: 93,498,882 P142R probably damaging Het
Jmy C A 13: 93,499,273 D12Y probably damaging Het
Kif13b G T 14: 64,779,356 A1324S probably damaging Het
Klhl31 T C 9: 77,655,839 S629P unknown Het
Lpar1 A G 4: 58,487,115 V52A possibly damaging Het
Lrp5 A G 19: 3,591,778 S1395P possibly damaging Het
Mogs T C 6: 83,116,067 L132P probably damaging Het
Ncam1 C A 9: 49,506,959 probably benign Het
Ndufs8 A T 19: 3,911,014 F88I probably damaging Het
Nos2 T A 11: 78,929,776 L69Q probably benign Het
Olfr575 T A 7: 102,955,085 Q179L probably benign Het
Psmd6 T C 14: 14,112,297 N388S possibly damaging Het
Rrbp1 T C 2: 143,963,108 T1046A probably benign Het
Scn11a T C 9: 119,754,362 E1729G probably benign Het
Slc6a3 A G 13: 73,544,834 D191G possibly damaging Het
Slc9a1 T C 4: 133,412,089 F206S probably benign Het
Tmc5 A G 7: 118,674,663 *968W probably null Het
Ttn T A 2: 76,754,824 I22042F probably damaging Het
Unc13a T C 8: 71,666,667 K9R probably damaging Het
Vegfa A G 17: 46,031,466 V142A probably benign Het
Vmn1r119 T A 7: 21,011,861 M199L probably benign Het
Vnn1 A T 10: 23,898,512 D151V possibly damaging Het
Zfp365 A T 10: 67,897,601 F254I probably benign Het
Other mutations in Pls3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Pls3 APN X 75794268 missense probably damaging 1.00
IGL02025:Pls3 APN X 75796495 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGTGAACTTCTCCAACAAGACC -3'
(R):5'- GACCATTCATGAAGATGTATTCAAGTG -3'

Sequencing Primer
(F):5'- CCACAACCGCAAGCCTTTCTG -3'
(R):5'- ACATGCTCTAGTGCTGAGAC -3'
Posted On2015-06-20