Incidental Mutation 'R3729:Frmpd4'
| ID |
270903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frmpd4
|
| Ensembl Gene |
ENSMUSG00000049176 |
| Gene Name |
FERM and PDZ domain containing 4 |
| Synonyms |
LOC237234, PKAP1, Preso1, Pdzd10, Pdzk10, Preso |
| MMRRC Submission |
040719-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3729 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
X |
| Chromosomal Location |
166254305-167360227 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 166269803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 493
(T493M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112145]
[ENSMUST00000112146]
[ENSMUST00000112147]
[ENSMUST00000112149]
|
| AlphaFold |
A2AFR3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112145
AA Change: T525M
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107773
Gene: ENSMUSG00000049176
AA Change: T525M
| 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 |
probably damaging
Transcript: ENSMUST00000112146
AA Change: T493M
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107774
Gene: ENSMUSG00000049176
AA Change: T493M
| 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: T525M
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000107775
Gene: ENSMUSG00000049176
AA Change: T525M
| 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: T533M
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107777
Gene: ENSMUSG00000049176
AA Change: T533M
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (48/48) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,345,409 (GRCm39) |
D954G |
probably damaging |
Het |
| Acvr1 |
T |
C |
2: 58,352,925 (GRCm39) |
K345R |
probably null |
Het |
| Aldoart2 |
A |
G |
12: 55,613,104 (GRCm39) |
Y343C |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 111,895,047 (GRCm39) |
Y739F |
possibly damaging |
Het |
| Cachd1 |
C |
A |
4: 100,832,077 (GRCm39) |
Y746* |
probably null |
Het |
| Card14 |
T |
C |
11: 119,224,758 (GRCm39) |
V595A |
probably damaging |
Het |
| Dhx33 |
T |
C |
11: 70,879,978 (GRCm39) |
D344G |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,427,220 (GRCm39) |
D171E |
probably benign |
Het |
| Fat3 |
A |
G |
9: 16,158,337 (GRCm39) |
|
probably benign |
Het |
| Fmnl3 |
A |
G |
15: 99,219,745 (GRCm39) |
F668L |
probably damaging |
Het |
| Gcn1 |
A |
T |
5: 115,721,453 (GRCm39) |
|
probably benign |
Het |
| Hspbp1 |
G |
T |
7: 4,680,808 (GRCm39) |
Q223K |
probably damaging |
Het |
| Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
| Igkv4-90 |
A |
G |
6: 68,784,665 (GRCm39) |
F10L |
probably benign |
Het |
| Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
| Kif4-ps |
A |
G |
12: 101,112,369 (GRCm39) |
E166G |
probably damaging |
Het |
| Lemd3 |
T |
C |
10: 120,763,920 (GRCm39) |
D780G |
probably damaging |
Het |
| Manba |
G |
A |
3: 135,260,611 (GRCm39) |
V599I |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,451,605 (GRCm39) |
E247G |
possibly damaging |
Het |
| Mfsd1 |
T |
C |
3: 67,490,298 (GRCm39) |
F50L |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,380,876 (GRCm39) |
|
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nol10 |
A |
T |
12: 17,474,674 (GRCm39) |
K622I |
probably benign |
Het |
| Or5p62 |
A |
T |
7: 107,771,516 (GRCm39) |
I145N |
probably benign |
Het |
| Or8d2b |
T |
C |
9: 38,788,547 (GRCm39) |
F25S |
probably damaging |
Het |
| Phtf1 |
A |
G |
3: 103,893,095 (GRCm39) |
M120V |
probably benign |
Het |
| Prrx1 |
A |
G |
1: 163,089,446 (GRCm39) |
L127P |
probably damaging |
Het |
| Rbsn |
T |
C |
6: 92,168,316 (GRCm39) |
M373V |
possibly damaging |
Het |
| Sec24b |
T |
C |
3: 129,827,482 (GRCm39) |
K203R |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc4a7 |
A |
T |
14: 14,729,276 (GRCm38) |
E47D |
probably damaging |
Het |
| Taf12 |
C |
A |
4: 132,010,265 (GRCm39) |
P78Q |
probably damaging |
Het |
| Tnn |
A |
G |
1: 159,973,810 (GRCm39) |
C186R |
probably damaging |
Het |
| Trim46 |
T |
A |
3: 89,142,256 (GRCm39) |
T721S |
probably benign |
Het |
| Trip4 |
T |
C |
9: 65,788,224 (GRCm39) |
N74D |
possibly damaging |
Het |
| Tssk5 |
C |
T |
15: 76,257,096 (GRCm39) |
R262H |
probably benign |
Het |
| Vegfa |
T |
C |
17: 46,335,446 (GRCm39) |
I105V |
possibly damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,364,095 (GRCm39) |
Y607C |
probably damaging |
Het |
| Wdr83 |
G |
T |
8: 85,806,968 (GRCm39) |
H66Q |
probably damaging |
Het |
| Zfp280b |
A |
G |
10: 75,874,936 (GRCm39) |
T272A |
probably benign |
Het |
| Zfp960 |
T |
A |
17: 17,308,633 (GRCm39) |
L449H |
probably 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 |
|
IGL03142:Frmpd4
|
APN |
X |
166,262,479 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCATGATTGTGTGGAATGTATTTC -3'
(R):5'- GCTTCTCCAGAGGAATATTTTCTCAG -3'
Sequencing Primer
(F):5'- GAATGTATTTCCCATCTCCCCAG -3'
(R):5'- ATCAGACGCCATGAACCT -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation