Incidental Mutation 'R5833:Pdlim1'
ID 449432
Institutional Source Beutler Lab
Gene Symbol Pdlim1
Ensembl Gene ENSMUSG00000055044
Gene Name PDZ and LIM domain 1 (elfin)
Synonyms mClim1, CLP36
MMRRC Submission 043221-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5833 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 40210683-40260060 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40218989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 214 (F214Y)
Ref Sequence ENSEMBL: ENSMUSP00000064545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068439] [ENSMUST00000182432]
AlphaFold O70400
Predicted Effect probably damaging
Transcript: ENSMUST00000068439
AA Change: F214Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064545
Gene: ENSMUSG00000055044
AA Change: F214Y

DomainStartEndE-ValueType
PDZ 12 85 3.23e-18 SMART
Pfam:DUF4749 136 234 4.6e-29 PFAM
LIM 257 308 2.31e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182432
SMART Domains Protein: ENSMUSP00000138383
Gene: ENSMUSG00000055044

DomainStartEndE-ValueType
PDZ 12 85 3.23e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182813
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.2%
  • 10x: 95.7%
  • 20x: 84.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the cytoskeleton. The protein may function as an adapter to bring other LIM-interacting proteins to the cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit enhanced platelet response to GPVI agonists and thrombosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Abcb4 T C 5: 9,008,314 (GRCm39) Y1161H probably damaging Het
Adcy2 T A 13: 68,886,722 (GRCm39) M276L probably benign Het
Adi1 A G 12: 28,731,041 (GRCm39) D166G probably benign Het
Arhgap44 T G 11: 64,929,503 (GRCm39) E267A probably damaging Het
Arl11 T A 14: 61,548,511 (GRCm39) L107Q probably damaging Het
C1qtnf3 A G 15: 10,975,716 (GRCm39) D247G probably benign Het
C4b T C 17: 34,949,647 (GRCm39) D1481G probably damaging Het
Cacna1a T C 8: 85,245,326 (GRCm39) F242L probably damaging Het
Ccnl1 T C 3: 65,855,922 (GRCm39) K298E probably benign Het
Dcaf5 A G 12: 80,395,203 (GRCm39) V322A probably damaging Het
Ddr2 T C 1: 169,832,265 (GRCm39) N175S probably benign Het
Enox1 T A 14: 77,744,379 (GRCm39) M21K probably benign Het
Fhad1 T C 4: 141,729,838 (GRCm39) D55G probably damaging Het
Gm5157 A G 7: 20,919,318 (GRCm39) M75T possibly damaging Het
Gm6309 A G 5: 146,105,128 (GRCm39) S262P probably damaging Het
Gpnmb T C 6: 49,020,952 (GRCm39) L82P probably damaging Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Iqgap2 C T 13: 95,811,880 (GRCm39) R707H probably damaging Het
Itpripl2 A C 7: 118,089,194 (GRCm39) V455G probably benign Het
Kif16b A G 2: 142,549,287 (GRCm39) V1087A probably benign Het
Med12l A G 3: 59,172,647 (GRCm39) D1801G possibly damaging Het
Mep1a G A 17: 43,789,055 (GRCm39) H574Y probably benign Het
Mtmr4 T A 11: 87,495,875 (GRCm39) Y570* probably null Het
Osbpl1a G T 18: 12,921,419 (GRCm39) N128K probably damaging Het
Pcdhb5 T A 18: 37,454,155 (GRCm39) H178Q probably damaging Het
Qki A T 17: 10,435,316 (GRCm39) L236H probably damaging Het
Rexo2 G T 9: 48,380,171 (GRCm39) D220E probably benign Het
Rras A G 7: 44,670,715 (GRCm39) E195G possibly damaging Het
Serpinb11 T C 1: 107,305,392 (GRCm39) probably null Het
Sp1 T A 15: 102,339,352 (GRCm39) M430K possibly damaging Het
Tardbp A C 4: 148,702,117 (GRCm39) V86G probably damaging Het
Trim43c A G 9: 88,725,090 (GRCm39) Q203R possibly damaging Het
Vmn1r232 A G 17: 21,133,913 (GRCm39) L229P probably damaging Het
Other mutations in Pdlim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02027:Pdlim1 APN 19 40,231,910 (GRCm39) missense probably benign 0.00
IGL02253:Pdlim1 APN 19 40,218,974 (GRCm39) missense probably damaging 0.99
IGL02312:Pdlim1 APN 19 40,211,505 (GRCm39) missense probably benign 0.00
IGL02584:Pdlim1 APN 19 40,231,844 (GRCm39) splice site probably null
R0391:Pdlim1 UTSW 19 40,232,017 (GRCm39) missense probably damaging 0.99
R1554:Pdlim1 UTSW 19 40,211,516 (GRCm39) missense probably benign 0.19
R1751:Pdlim1 UTSW 19 40,240,348 (GRCm39) splice site probably benign
R1972:Pdlim1 UTSW 19 40,211,581 (GRCm39) missense probably damaging 0.99
R2900:Pdlim1 UTSW 19 40,211,519 (GRCm39) missense probably damaging 1.00
R4709:Pdlim1 UTSW 19 40,211,180 (GRCm39) missense probably benign 0.26
R4803:Pdlim1 UTSW 19 40,231,892 (GRCm39) missense possibly damaging 0.94
R4818:Pdlim1 UTSW 19 40,211,580 (GRCm39) missense probably damaging 0.98
R5360:Pdlim1 UTSW 19 40,218,993 (GRCm39) missense probably damaging 0.99
R6547:Pdlim1 UTSW 19 40,211,564 (GRCm39) missense probably damaging 0.97
R7699:Pdlim1 UTSW 19 40,238,102 (GRCm39) missense probably damaging 0.99
R7700:Pdlim1 UTSW 19 40,238,102 (GRCm39) missense probably damaging 0.99
R7756:Pdlim1 UTSW 19 40,231,986 (GRCm39) missense probably benign 0.00
R7758:Pdlim1 UTSW 19 40,231,986 (GRCm39) missense probably benign 0.00
R7914:Pdlim1 UTSW 19 40,240,445 (GRCm39) missense probably damaging 0.98
R8201:Pdlim1 UTSW 19 40,218,958 (GRCm39) missense probably benign
R8331:Pdlim1 UTSW 19 40,218,995 (GRCm39) missense possibly damaging 0.70
R9698:Pdlim1 UTSW 19 40,218,959 (GRCm39) missense probably benign 0.01
R9733:Pdlim1 UTSW 19 40,219,040 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGTAACCTCAGGCTCTGGG -3'
(R):5'- CATTGTCAGGGGAGTTGGAGAC -3'

Sequencing Primer
(F):5'- CTCTGGGGAAGATGGCAAGCTC -3'
(R):5'- TTGGAGACATGGGATAATCACTGTCC -3'
Posted On 2016-12-20