Incidental Mutation 'IGL03142:Frmpd4'
ID 410722
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Frmpd4
Ensembl Gene ENSMUSG00000049176
Gene Name FERM and PDZ domain containing 4
Synonyms LOC237234, PKAP1, Preso1, Pdzd10, Pdzk10, Preso
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03142
Quality Score
Status
Chromosome X
Chromosomal Location 166254305-167360227 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 166262479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 550 (D550V)
Ref Sequence ENSEMBL: ENSMUSP00000107777 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112145] [ENSMUST00000112146] [ENSMUST00000112147] [ENSMUST00000112149]
AlphaFold A2AFR3
Predicted Effect probably benign
Transcript: ENSMUST00000112145
AA Change: D542V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107773
Gene: ENSMUSG00000049176
AA Change: D542V

DomainStartEndE-ValueType
PDZ 77 147 1.38e-12 SMART
B41 194 416 1.86e-49 SMART
low complexity region 734 745 N/A INTRINSIC
low complexity region 762 775 N/A INTRINSIC
Blast:B41 794 864 9e-6 BLAST
low complexity region 865 874 N/A INTRINSIC
low complexity region 892 905 N/A INTRINSIC
low complexity region 1210 1224 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112146
AA Change: D510V

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107774
Gene: ENSMUSG00000049176
AA Change: D510V

DomainStartEndE-ValueType
PDZ 45 115 1.38e-12 SMART
B41 162 384 1.86e-49 SMART
low complexity region 702 713 N/A INTRINSIC
low complexity region 730 743 N/A INTRINSIC
Blast:B41 762 832 1e-5 BLAST
low complexity region 833 842 N/A INTRINSIC
low complexity region 860 873 N/A INTRINSIC
low complexity region 1178 1192 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112147
AA Change: D542V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107775
Gene: ENSMUSG00000049176
AA Change: D542V

DomainStartEndE-ValueType
PDZ 77 147 1.38e-12 SMART
B41 194 416 1.86e-49 SMART
low complexity region 734 745 N/A INTRINSIC
low complexity region 762 775 N/A INTRINSIC
Blast:B41 794 864 9e-6 BLAST
low complexity region 865 874 N/A INTRINSIC
low complexity region 892 905 N/A INTRINSIC
low complexity region 1210 1224 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000112149
AA Change: D550V

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107777
Gene: ENSMUSG00000049176
AA Change: D550V

DomainStartEndE-ValueType
PDZ 85 155 1.38e-12 SMART
B41 202 424 1.86e-49 SMART
low complexity region 742 753 N/A INTRINSIC
low complexity region 770 783 N/A INTRINSIC
Blast:B41 802 872 1e-5 BLAST
low complexity region 873 882 N/A INTRINSIC
low complexity region 900 913 N/A INTRINSIC
low complexity region 1218 1232 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased inflammation-induced pain and thermal pain in a chronic pain model. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc88c T C 12: 100,913,457 (GRCm39) S523G probably damaging Het
Ccnb1 A T 13: 100,920,039 (GRCm39) D157E probably damaging Het
Cep43 T A 17: 8,411,041 (GRCm39) S331R probably damaging Het
Cfap70 T C 14: 20,447,283 (GRCm39) T1055A probably damaging Het
Fn1 C A 1: 71,676,455 (GRCm39) R592L probably damaging Het
Gcm2 A G 13: 41,256,711 (GRCm39) V346A probably benign Het
Gm10112 C T X: 110,209,673 (GRCm39) T4I probably damaging Het
Gm3115 T C 14: 4,084,302 (GRCm38) probably benign Het
Has2 A T 15: 56,545,491 (GRCm39) I37N possibly damaging Het
Hmgn3 A G 9: 83,028,482 (GRCm39) probably benign Het
Klhl29 T A 12: 5,187,603 (GRCm39) N254Y probably damaging Het
Kti12 A G 4: 108,705,362 (GRCm39) Y92C probably damaging Het
Lyset G A 12: 102,710,933 (GRCm39) S52N probably damaging Het
Mgat5 A C 1: 127,339,960 (GRCm39) Q447P probably damaging Het
Mlh3 C A 12: 85,297,075 (GRCm39) probably null Het
Mrpl45 T C 11: 97,206,751 (GRCm39) W18R probably benign Het
Mtor A G 4: 148,538,356 (GRCm39) D138G probably benign Het
Mycbp2 C T 14: 103,536,212 (GRCm39) C246Y probably damaging Het
Mylk4 A T 13: 32,904,582 (GRCm39) V415E probably damaging Het
Olfm3 A T 3: 114,890,679 (GRCm39) Q124L probably damaging Het
Or4d11 A T 19: 12,013,752 (GRCm39) M118K probably damaging Het
Pam C T 1: 97,822,111 (GRCm39) G298R probably damaging Het
Pappa2 A C 1: 158,682,501 (GRCm39) I849R probably damaging Het
Pde3a T A 6: 141,438,025 (GRCm39) D1031E probably benign Het
Pik3cb A T 9: 98,947,615 (GRCm39) S521T probably benign Het
Pkn1 A G 8: 84,397,652 (GRCm39) F824L possibly damaging Het
Pspn C T 17: 57,306,566 (GRCm39) R121Q probably benign Het
Ric1 A G 19: 29,578,380 (GRCm39) D1195G possibly damaging Het
Sin3b A G 8: 73,471,196 (GRCm39) D381G probably damaging Het
Slc37a3 T C 6: 39,336,919 (GRCm39) probably null Het
Smtn T A 11: 3,482,601 (GRCm39) K124* probably null Het
Tbce A G 13: 14,194,449 (GRCm39) V70A possibly damaging Het
Tti1 A G 2: 157,842,597 (GRCm39) Y811H probably damaging Het
Uggt2 T C 14: 119,235,603 (GRCm39) Y1424C probably damaging Het
Upf1 A G 8: 70,785,977 (GRCm39) V994A probably benign Het
Vmn2r121 T C X: 123,042,635 (GRCm39) D174G possibly damaging Het
Other mutations in Frmpd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02227:Frmpd4 APN X 166,275,931 (GRCm39) missense probably damaging 1.00
IGL02476:Frmpd4 APN X 166,280,851 (GRCm39) missense probably damaging 1.00
IGL03292:Frmpd4 APN X 166,260,586 (GRCm39) missense probably benign
PIT4283001:Frmpd4 UTSW X 166,512,030 (GRCm39) missense possibly damaging 0.95
R0647:Frmpd4 UTSW X 166,272,006 (GRCm39) missense probably damaging 1.00
R1520:Frmpd4 UTSW X 166,275,949 (GRCm39) missense probably damaging 1.00
R2869:Frmpd4 UTSW X 166,260,243 (GRCm39) missense probably benign 0.24
R2869:Frmpd4 UTSW X 166,260,243 (GRCm39) missense probably benign 0.24
R2871:Frmpd4 UTSW X 166,260,243 (GRCm39) missense probably benign 0.24
R2871:Frmpd4 UTSW X 166,260,243 (GRCm39) missense probably benign 0.24
R2872:Frmpd4 UTSW X 166,260,243 (GRCm39) missense probably benign 0.24
R2872:Frmpd4 UTSW X 166,260,243 (GRCm39) missense probably benign 0.24
R2874:Frmpd4 UTSW X 166,260,243 (GRCm39) missense probably benign 0.24
R3729:Frmpd4 UTSW X 166,269,803 (GRCm39) missense probably damaging 0.96
R3731:Frmpd4 UTSW X 166,269,803 (GRCm39) missense probably damaging 0.96
R6943:Frmpd4 UTSW X 166,387,579 (GRCm39) missense probably damaging 1.00
Z1088:Frmpd4 UTSW X 166,280,836 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02