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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |