Incidental Mutation 'R1925:Pdlim2'
ID 213380
Institutional Source Beutler Lab
Gene Symbol Pdlim2
Ensembl Gene ENSMUSG00000022090
Gene Name PDZ and LIM domain 2
Synonyms SLIM, 4732462F18Rik, mystique
MMRRC Submission 039943-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R1925 (G1)
Quality Score 179
Status Validated
Chromosome 14
Chromosomal Location 70401667-70415130 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70402228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 296 (R296H)
Ref Sequence ENSEMBL: ENSMUSP00000116200 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022681] [ENSMUST00000127836] [ENSMUST00000129174] [ENSMUST00000153735] [ENSMUST00000143393]
AlphaFold Q8R1G6
Predicted Effect probably damaging
Transcript: ENSMUST00000022681
AA Change: R296H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022681
Gene: ENSMUSG00000022090
AA Change: R296H

DomainStartEndE-ValueType
PDZ 11 84 3.41e-17 SMART
low complexity region 129 144 N/A INTRINSIC
Pfam:DUF4749 169 256 4.4e-12 PFAM
low complexity region 259 271 N/A INTRINSIC
LIM 282 334 1.25e-6 SMART
Predicted Effect unknown
Transcript: ENSMUST00000125300
AA Change: R97H
SMART Domains Protein: ENSMUSP00000116694
Gene: ENSMUSG00000022090
AA Change: R97H

DomainStartEndE-ValueType
Pfam:DUF4749 7 58 6.4e-13 PFAM
low complexity region 61 73 N/A INTRINSIC
LIM 84 136 1.25e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000127836
AA Change: R75H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141050
Gene: ENSMUSG00000022090
AA Change: R75H

DomainStartEndE-ValueType
low complexity region 20 29 N/A INTRINSIC
low complexity region 38 50 N/A INTRINSIC
LIM 61 113 5.9e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000129174
AA Change: R75H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139820
Gene: ENSMUSG00000022090
AA Change: R75H

DomainStartEndE-ValueType
low complexity region 20 29 N/A INTRINSIC
low complexity region 38 50 N/A INTRINSIC
LIM 61 113 5.9e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141363
Predicted Effect probably damaging
Transcript: ENSMUST00000153735
AA Change: R296H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116200
Gene: ENSMUSG00000022090
AA Change: R296H

DomainStartEndE-ValueType
PDZ 11 84 3.41e-17 SMART
low complexity region 129 144 N/A INTRINSIC
low complexity region 199 210 N/A INTRINSIC
low complexity region 241 250 N/A INTRINSIC
low complexity region 259 271 N/A INTRINSIC
LIM 282 334 1.25e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143393
SMART Domains Protein: ENSMUSP00000119222
Gene: ENSMUSG00000022090

DomainStartEndE-ValueType
PDZ 11 84 3.41e-17 SMART
low complexity region 129 144 N/A INTRINSIC
low complexity region 199 210 N/A INTRINSIC
Meta Mutation Damage Score 0.8007 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.2%
Validation Efficiency 99% (79/80)
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 ALP subfamily of PDZ-LIM domain proteins. The encoded protein suppresses anchorage-dependent growth and promotes cell migration and adhesion through interactions with the actin cytoskeleton via the PDZ domain. The encoded protein is also a putative tumor suppressor protein, and decreased expression of this gene is associated with several malignancies including breast cancer and adult T-cell leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele display increased IFN-gamma production by Th1 cells and an enhanced inflammatory response to in vivo challenge with heat-killed Listeria monocytogenes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,617,333 (GRCm39) H577R probably damaging Het
Acvr1 T C 2: 58,337,661 (GRCm39) M474V probably damaging Het
Adam1a A T 5: 121,657,513 (GRCm39) C593* probably null Het
Agap2 A G 10: 126,926,744 (GRCm39) N927S probably damaging Het
Ahctf1 T C 1: 179,598,218 (GRCm39) H958R probably damaging Het
Apaf1 A G 10: 90,835,581 (GRCm39) V1088A probably damaging Het
Brpf1 G T 6: 113,296,891 (GRCm39) K958N probably damaging Het
Cadps A G 14: 12,705,726 (GRCm38) I223T probably damaging Het
Catsperg2 T C 7: 29,397,189 (GRCm39) M1105V probably benign Het
Clasp2 T A 9: 113,735,265 (GRCm39) F1033L possibly damaging Het
Col4a3 T A 1: 82,678,094 (GRCm39) I1232N unknown Het
Col4a3 T G 1: 82,689,595 (GRCm39) probably benign Het
Comtd1 T G 14: 21,897,731 (GRCm39) E134A probably damaging Het
Cyp2c55 A T 19: 39,022,821 (GRCm39) T320S probably benign Het
Dlx2 T C 2: 71,376,522 (GRCm39) N72S probably benign Het
Dnhd1 T A 7: 105,301,459 (GRCm39) V272E probably damaging Het
Dnhd1 T A 7: 105,323,061 (GRCm39) I523N probably damaging Het
Dpysl3 T A 18: 43,465,996 (GRCm39) I140F probably damaging Het
Elmod2 G A 8: 84,048,093 (GRCm39) A123V probably benign Het
Etv4 T C 11: 101,662,507 (GRCm39) probably benign Het
F3 A T 3: 121,523,032 (GRCm39) T81S probably damaging Het
Faf2 C T 13: 54,799,865 (GRCm39) A224V probably damaging Het
Fbn1 A T 2: 125,205,549 (GRCm39) M1109K probably damaging Het
Fnbp4 A G 2: 90,596,187 (GRCm39) E586G probably damaging Het
Gm10428 G T 11: 62,644,179 (GRCm39) probably benign Het
Gm5884 A T 6: 128,622,050 (GRCm39) noncoding transcript Het
Gm6471 T A 7: 142,385,319 (GRCm39) noncoding transcript Het
Gtse1 T C 15: 85,757,939 (GRCm39) V515A probably benign Het
H2-M2 T C 17: 37,793,391 (GRCm39) E205G probably damaging Het
Ido1 T A 8: 25,075,306 (GRCm39) T259S possibly damaging Het
Il1r2 A G 1: 40,154,308 (GRCm39) Y225C probably damaging Het
Kcnq3 T G 15: 65,876,658 (GRCm39) D495A possibly damaging Het
Lrrc49 T C 9: 60,556,773 (GRCm39) N321D probably benign Het
Lztr1 G T 16: 17,341,247 (GRCm39) R291L probably damaging Het
Micu1 C T 10: 59,568,983 (GRCm39) probably benign Het
Msh5 C T 17: 35,248,928 (GRCm39) V702I probably benign Het
Myh1 T C 11: 67,101,996 (GRCm39) I792T probably benign Het
Nav1 T A 1: 135,534,967 (GRCm39) probably benign Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Or11i1 C T 3: 106,729,688 (GRCm39) M62I probably damaging Het
Or5ac22 A G 16: 59,135,027 (GRCm39) S248P probably damaging Het
Or8u9 T C 2: 86,001,354 (GRCm39) D269G probably benign Het
Otof G C 5: 30,551,532 (GRCm39) N340K probably benign Het
Plek2 T A 12: 78,941,664 (GRCm39) Y155F probably damaging Het
Ppa1 T A 10: 61,487,388 (GRCm39) Y38* probably null Het
Pramel22 T A 4: 143,381,025 (GRCm39) T333S probably damaging Het
Prmt9 T A 8: 78,303,968 (GRCm39) C684S possibly damaging Het
Rasl10a A G 11: 5,009,473 (GRCm39) D87G possibly damaging Het
Rtn4rl1 C A 11: 75,156,864 (GRCm39) P432Q probably benign Het
Scd4 T G 19: 44,329,823 (GRCm39) Y265D probably damaging Het
Scn5a C T 9: 119,358,085 (GRCm39) A719T probably benign Het
Sdk1 T A 5: 142,171,040 (GRCm39) F1968I probably benign Het
Sh3bp5 T C 14: 31,157,880 (GRCm39) E12G probably benign Het
Slc6a12 T A 6: 121,337,485 (GRCm39) F390I probably benign Het
Snapin A T 3: 90,397,539 (GRCm39) D77E possibly damaging Het
Sox2 G T 3: 34,704,820 (GRCm39) E86* probably null Het
Sparcl1 A G 5: 104,241,220 (GRCm39) L68P probably benign Het
Sptb T A 12: 76,669,027 (GRCm39) E562V probably damaging Het
Taar3 A T 10: 23,826,483 (GRCm39) H343L probably benign Het
Tanc1 T A 2: 59,555,095 (GRCm39) V51E possibly damaging Het
Tbc1d22a T C 15: 86,123,350 (GRCm39) S128P probably damaging Het
Thada A G 17: 84,751,927 (GRCm39) S350P probably benign Het
Tmem161b T C 13: 84,408,348 (GRCm39) V93A probably benign Het
Tnn T C 1: 159,924,799 (GRCm39) Y1185C probably damaging Het
Trim43a T C 9: 88,464,371 (GRCm39) V94A probably benign Het
Ttll12 C T 15: 83,465,976 (GRCm39) E407K probably benign Het
Ttn T C 2: 76,555,856 (GRCm39) E30383G probably damaging Het
Vmn1r29 T A 6: 58,285,087 (GRCm39) M269K possibly damaging Het
Vmn2r117 A G 17: 23,697,363 (GRCm39) S110P probably benign Het
Vmn2r6 C A 3: 64,463,698 (GRCm39) V290L possibly damaging Het
Vmn2r8 A T 5: 108,950,019 (GRCm39) L276Q probably damaging Het
Zan C A 5: 137,423,904 (GRCm39) C2665F unknown Het
Zfp507 C T 7: 35,493,150 (GRCm39) R631Q probably damaging Het
Zfp983 A G 17: 21,880,933 (GRCm39) H287R probably damaging Het
Other mutations in Pdlim2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02295:Pdlim2 APN 14 70,403,532 (GRCm39) splice site probably benign
IGL02338:Pdlim2 APN 14 70,411,906 (GRCm39) missense probably damaging 1.00
IGL03286:Pdlim2 APN 14 70,411,925 (GRCm39) missense possibly damaging 0.88
PIT4504001:Pdlim2 UTSW 14 70,403,579 (GRCm39) missense probably benign 0.44
R0751:Pdlim2 UTSW 14 70,402,228 (GRCm39) missense probably damaging 1.00
R0768:Pdlim2 UTSW 14 70,402,228 (GRCm39) missense probably damaging 1.00
R0832:Pdlim2 UTSW 14 70,402,228 (GRCm39) missense probably damaging 1.00
R1167:Pdlim2 UTSW 14 70,402,228 (GRCm39) missense probably damaging 1.00
R1207:Pdlim2 UTSW 14 70,402,228 (GRCm39) missense probably damaging 1.00
R1207:Pdlim2 UTSW 14 70,402,228 (GRCm39) missense probably damaging 1.00
R1343:Pdlim2 UTSW 14 70,402,228 (GRCm39) missense probably damaging 1.00
R1412:Pdlim2 UTSW 14 70,411,773 (GRCm39) splice site probably benign
R1595:Pdlim2 UTSW 14 70,402,193 (GRCm39) missense probably damaging 1.00
R1689:Pdlim2 UTSW 14 70,408,688 (GRCm39) missense probably damaging 0.98
R1703:Pdlim2 UTSW 14 70,411,784 (GRCm39) critical splice donor site probably null
R1843:Pdlim2 UTSW 14 70,402,228 (GRCm39) missense probably damaging 1.00
R1845:Pdlim2 UTSW 14 70,402,228 (GRCm39) missense probably damaging 1.00
R1923:Pdlim2 UTSW 14 70,402,228 (GRCm39) missense probably damaging 1.00
R1924:Pdlim2 UTSW 14 70,402,228 (GRCm39) missense probably damaging 1.00
R2004:Pdlim2 UTSW 14 70,402,228 (GRCm39) missense probably damaging 1.00
R2005:Pdlim2 UTSW 14 70,402,228 (GRCm39) missense probably damaging 1.00
R2202:Pdlim2 UTSW 14 70,402,228 (GRCm39) missense probably damaging 1.00
R2205:Pdlim2 UTSW 14 70,402,228 (GRCm39) missense probably damaging 1.00
R2237:Pdlim2 UTSW 14 70,408,698 (GRCm39) missense probably benign 0.05
R2843:Pdlim2 UTSW 14 70,403,549 (GRCm39) missense probably benign 0.02
R4042:Pdlim2 UTSW 14 70,402,228 (GRCm39) missense probably damaging 1.00
R4965:Pdlim2 UTSW 14 70,405,464 (GRCm39) unclassified probably benign
R4971:Pdlim2 UTSW 14 70,405,208 (GRCm39) missense probably damaging 1.00
R5951:Pdlim2 UTSW 14 70,405,229 (GRCm39) missense probably benign 0.06
R6252:Pdlim2 UTSW 14 70,405,137 (GRCm39) missense probably damaging 1.00
R7208:Pdlim2 UTSW 14 70,411,826 (GRCm39) missense probably damaging 1.00
R7597:Pdlim2 UTSW 14 70,403,645 (GRCm39) missense possibly damaging 0.58
R7627:Pdlim2 UTSW 14 70,408,924 (GRCm39) missense probably benign
R8342:Pdlim2 UTSW 14 70,403,563 (GRCm39) missense probably damaging 1.00
R8554:Pdlim2 UTSW 14 70,408,698 (GRCm39) missense probably benign
R9361:Pdlim2 UTSW 14 70,402,190 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTCTCAGTATAATCATGTCTGC -3'
(R):5'- GGGGTTGGTAAAATGAAATTCCTG -3'

Sequencing Primer
(F):5'- AATCATGTCTGCAGAGTCTGAG -3'
(R):5'- AAATTCCTGAGAGAGAGGCTTTTG -3'
Posted On 2014-07-14