Incidental Mutation 'R1178:Pfn2'
ID 100126
Institutional Source Beutler Lab
Gene Symbol Pfn2
Ensembl Gene ENSMUSG00000027805
Gene Name profilin 2
Synonyms Pfn
MMRRC Submission 039250-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.240) question?
Stock # R1178 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 57749316-57755178 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 57752766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 3 (V3I)
Ref Sequence ENSEMBL: ENSMUSP00000113526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066882] [ENSMUST00000119344] [ENSMUST00000120289] [ENSMUST00000122210]
AlphaFold Q9JJV2
Predicted Effect probably benign
Transcript: ENSMUST00000066882
AA Change: V52I

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000068890
Gene: ENSMUSG00000027805
AA Change: V52I

DomainStartEndE-ValueType
PROF 2 140 2.45e-55 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119344
AA Change: V3I

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000112391
Gene: ENSMUSG00000027805
AA Change: V3I

DomainStartEndE-ValueType
Pfam:Profilin 1 86 5.3e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120289
AA Change: V52I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000112443
Gene: ENSMUSG00000027805
AA Change: V52I

DomainStartEndE-ValueType
Pfam:Profilin 3 106 1.5e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122210
AA Change: V3I

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000113526
Gene: ENSMUSG00000027805
AA Change: V3I

DomainStartEndE-ValueType
Pfam:Profilin 1 86 5.3e-14 PFAM
Meta Mutation Damage Score 0.0743 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.5%
Validation Efficiency 98% (51/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. There are two alternatively spliced transcript variants encoding different isoforms described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display increased synaptic excitability of neocortical glutamatergic neurons due to higher vesicle exocytosis, hyperactivation of the striatum, hyperactivity, and increased novelty-seeking behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G T 13: 81,588,156 (GRCm39) probably benign Het
Apcdd1 A T 18: 63,070,168 (GRCm39) Y145F probably damaging Het
Brinp1 C T 4: 68,680,790 (GRCm39) G580E probably damaging Het
Cep128 G A 12: 91,226,929 (GRCm39) T227M probably damaging Het
Cxcr2 A T 1: 74,197,527 (GRCm39) D7V probably benign Het
Dync2h1 C T 9: 7,101,193 (GRCm39) probably benign Het
Eps8 T C 6: 137,499,852 (GRCm39) Q209R possibly damaging Het
Gabrg3 C T 7: 56,384,839 (GRCm39) V241I probably benign Het
Gfpt2 T C 11: 49,714,136 (GRCm39) S298P probably benign Het
Gm6797 T A X: 8,508,004 (GRCm39) noncoding transcript Het
Gp1ba C T 11: 70,532,253 (GRCm39) P673L probably damaging Het
Heatr5b A G 17: 79,120,698 (GRCm39) L742P probably damaging Het
Hgd A G 16: 37,435,756 (GRCm39) I115V possibly damaging Het
Hmgcll1 A T 9: 76,037,613 (GRCm39) D169V probably damaging Het
Ifi202b A T 1: 173,799,788 (GRCm39) I231K probably benign Het
Itpripl1 A G 2: 126,983,819 (GRCm39) I101T probably benign Het
Kcnj9 A G 1: 172,150,530 (GRCm39) V361A probably benign Het
Map4k5 G A 12: 69,863,152 (GRCm39) T567M probably damaging Het
Ncapd3 A G 9: 26,952,717 (GRCm39) D82G probably benign Het
Nup58 A T 14: 60,482,119 (GRCm39) probably benign Het
Or5d16 G A 2: 87,773,490 (GRCm39) L161F probably benign Het
Or8d2b A G 9: 38,789,051 (GRCm39) E193G probably damaging Het
Or8g50 A G 9: 39,648,642 (GRCm39) Y177C probably damaging Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Pkhd1 C T 1: 20,655,381 (GRCm39) probably null Het
Plekha2 A C 8: 25,549,218 (GRCm39) S189A probably benign Het
Prune2 T C 19: 17,100,469 (GRCm39) V1991A probably benign Het
Psg17 T C 7: 18,548,380 (GRCm39) T464A probably benign Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rab8b A G 9: 66,760,249 (GRCm39) M125T possibly damaging Het
Rbl1 T A 2: 156,989,575 (GRCm39) M1015L possibly damaging Het
Ryr3 T A 2: 112,794,725 (GRCm39) Q149L probably benign Het
Scn2a C A 2: 65,517,123 (GRCm39) probably benign Het
Sec61g A C 11: 16,454,722 (GRCm39) probably benign Het
Smcr8 G A 11: 60,670,358 (GRCm39) R502H probably damaging Het
Spag16 G A 1: 69,962,817 (GRCm39) probably benign Het
Spink13 A G 18: 62,741,241 (GRCm39) probably benign Het
Stk25 T C 1: 93,551,111 (GRCm39) probably benign Het
Syngap1 A G 17: 27,176,779 (GRCm39) N314D probably damaging Het
Tek T C 4: 94,692,524 (GRCm39) C160R probably damaging Het
Tenm2 C T 11: 35,954,004 (GRCm39) G1236R possibly damaging Het
Tll2 T G 19: 41,081,286 (GRCm39) D712A probably damaging Het
Tmprss13 A T 9: 45,239,945 (GRCm39) R84S unknown Het
Ttn A T 2: 76,800,047 (GRCm39) I387N probably damaging Het
Ubr1 T A 2: 120,756,510 (GRCm39) K706* probably null Het
Upk2 A T 9: 44,365,470 (GRCm39) S33T probably benign Het
Usp47 T G 7: 111,709,205 (GRCm39) M1317R possibly damaging Het
Wdr19 T C 5: 65,381,208 (GRCm39) Y411H probably damaging Het
Zfp143 C T 7: 109,674,928 (GRCm39) probably benign Het
Zfp473 T C 7: 44,384,018 (GRCm39) D105G probably benign Het
Zfp474 C T 18: 52,771,814 (GRCm39) Q156* probably null Het
Other mutations in Pfn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4856:Pfn2 UTSW 3 57,754,874 (GRCm39) missense probably damaging 0.98
R4886:Pfn2 UTSW 3 57,754,874 (GRCm39) missense probably damaging 0.98
R5256:Pfn2 UTSW 3 57,754,812 (GRCm39) missense probably damaging 0.99
R8952:Pfn2 UTSW 3 57,752,756 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-01-15