Incidental Mutation 'R5829:Mpp4'
| ID |
450302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mpp4
|
| Ensembl Gene |
ENSMUSG00000079550 |
| Gene Name |
membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) |
| Synonyms |
DLG6 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5829 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
59160094-59202548 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59168101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 456
(S456R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070711
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066374]
[ENSMUST00000078874]
[ENSMUST00000114275]
[ENSMUST00000186477]
[ENSMUST00000191200]
|
| AlphaFold |
Q6P7F1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066374
AA Change: S456R
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000070711
Gene: ENSMUSG00000079550
AA Change: S456R
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
27 |
82 |
4.02e-9 |
SMART |
|
L27
|
86 |
139 |
2.49e-14 |
SMART |
|
PDZ
|
161 |
234 |
3.57e-11 |
SMART |
|
SH3
|
244 |
310 |
2.94e-5 |
SMART |
|
low complexity region
|
397 |
406 |
N/A |
INTRINSIC |
|
GuKc
|
425 |
618 |
1.21e-50 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078874
AA Change: S456R
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077914
Gene: ENSMUSG00000079550
AA Change: S456R
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
27 |
82 |
4.02e-9 |
SMART |
|
L27
|
86 |
139 |
2.49e-14 |
SMART |
|
PDZ
|
161 |
234 |
3.57e-11 |
SMART |
|
SH3
|
244 |
310 |
2.94e-5 |
SMART |
|
low complexity region
|
348 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
406 |
N/A |
INTRINSIC |
|
GuKc
|
425 |
618 |
1.21e-50 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114275
AA Change: S475R
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109914
Gene: ENSMUSG00000079550
AA Change: S475R
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
46 |
101 |
4.02e-9 |
SMART |
|
L27
|
105 |
158 |
2.49e-14 |
SMART |
|
PDZ
|
180 |
253 |
3.57e-11 |
SMART |
|
SH3
|
263 |
329 |
2.94e-5 |
SMART |
|
low complexity region
|
367 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
425 |
N/A |
INTRINSIC |
|
GuKc
|
444 |
637 |
1.21e-50 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186477
AA Change: S412R
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140352
Gene: ENSMUSG00000079550
AA Change: S412R
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
27 |
82 |
1.3e-11 |
SMART |
|
L27
|
86 |
139 |
8.6e-17 |
SMART |
|
PDZ
|
161 |
234 |
1.8e-13 |
SMART |
|
SH3
|
222 |
297 |
5.1e-4 |
SMART |
|
low complexity region
|
353 |
362 |
N/A |
INTRINSIC |
|
GuKc
|
381 |
574 |
5.8e-53 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187825
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188494
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191200
AA Change: S450R
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140957
Gene: ENSMUSG00000079550
AA Change: S450R
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
27 |
82 |
4.02e-9 |
SMART |
|
L27
|
86 |
139 |
2.49e-14 |
SMART |
|
PDZ
|
161 |
234 |
3.57e-11 |
SMART |
|
SH3
|
244 |
310 |
2.94e-5 |
SMART |
|
low complexity region
|
342 |
356 |
N/A |
INTRINSIC |
|
low complexity region
|
391 |
400 |
N/A |
INTRINSIC |
|
GuKc
|
419 |
612 |
1.21e-50 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| 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 membrane-associated guanylate kinase (MAGUK) protein family, with an N-terminal PDZ domain, a central src homology 3 region (SH3), and a C-terminal guanylate kinase-like (GUK) domain. The protein is localized to the outer limiting membrane in the retina, and is thought to function in photoreceptor polarity and the organization of specialized intercellular junctions. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for mutations display sporadic photorecptor displacement. Correct protein localization at the presynaptic photoreceptor membrane. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Atp6v1e2 |
T |
C |
17: 87,252,144 (GRCm39) |
R85G |
probably benign |
Het |
| Bmpr1b |
T |
C |
3: 141,550,918 (GRCm39) |
H391R |
probably benign |
Het |
| Camsap3 |
A |
G |
8: 3,647,899 (GRCm39) |
H69R |
probably damaging |
Het |
| Cimip2a |
G |
A |
2: 25,108,869 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
C |
T |
9: 79,540,955 (GRCm39) |
G2391R |
probably damaging |
Het |
| Dab2ip |
ATCCT |
ATCCTCCT |
2: 35,597,787 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
G |
A |
1: 77,421,631 (GRCm39) |
L284F |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,061,454 (GRCm39) |
S4346P |
probably damaging |
Het |
| Fbxo22 |
T |
A |
9: 55,125,596 (GRCm39) |
|
probably null |
Het |
| Gcc1 |
C |
A |
6: 28,419,690 (GRCm39) |
|
probably benign |
Het |
| Gdf10 |
T |
C |
14: 33,654,674 (GRCm39) |
S394P |
probably damaging |
Het |
| Gdf9 |
C |
T |
11: 53,324,516 (GRCm39) |
T95M |
probably benign |
Het |
| Gpr179 |
G |
A |
11: 97,226,524 (GRCm39) |
S1877L |
probably benign |
Het |
| Gtf2i |
A |
G |
5: 134,292,547 (GRCm39) |
V380A |
probably damaging |
Het |
| Il17c |
G |
A |
8: 123,148,970 (GRCm39) |
R38Q |
probably damaging |
Het |
| Il17rd |
G |
A |
14: 26,814,042 (GRCm39) |
|
probably null |
Het |
| Iqch |
C |
T |
9: 63,332,639 (GRCm39) |
|
probably null |
Het |
| Lrrc37 |
C |
T |
11: 103,432,712 (GRCm39) |
E1310K |
possibly damaging |
Het |
| Nek10 |
T |
C |
14: 14,865,404 (GRCm38) |
Y601H |
probably damaging |
Het |
| Nrxn2 |
C |
T |
19: 6,540,879 (GRCm39) |
P936L |
probably benign |
Het |
| Or8b44 |
T |
A |
9: 38,410,545 (GRCm39) |
Y193* |
probably null |
Het |
| Pcdhb9 |
T |
C |
18: 37,534,942 (GRCm39) |
V312A |
probably damaging |
Het |
| Pex5l |
T |
C |
3: 33,060,139 (GRCm39) |
T211A |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,972,049 (GRCm39) |
T794A |
probably benign |
Het |
| Pla2g6 |
A |
G |
15: 79,171,893 (GRCm39) |
F710L |
possibly damaging |
Het |
| Repin1 |
A |
T |
6: 48,571,766 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
A |
T |
10: 39,682,902 (GRCm39) |
E340V |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,690,076 (GRCm39) |
S1158P |
probably damaging |
Het |
| S100a16 |
A |
T |
3: 90,449,454 (GRCm39) |
Q43L |
possibly damaging |
Het |
| Scg2 |
A |
G |
1: 79,414,637 (GRCm39) |
S29P |
probably damaging |
Het |
| Sfrp5 |
T |
C |
19: 42,190,095 (GRCm39) |
Y119C |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,986 (GRCm39) |
T916A |
probably benign |
Het |
| Smpd3 |
A |
G |
8: 106,991,512 (GRCm39) |
V347A |
probably benign |
Het |
| Tmem212 |
C |
A |
3: 27,939,081 (GRCm39) |
C135F |
possibly damaging |
Het |
| Unc13c |
T |
A |
9: 73,600,650 (GRCm39) |
N1365Y |
probably benign |
Het |
| Usp13 |
G |
T |
3: 32,940,672 (GRCm39) |
G395C |
possibly damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,886,812 (GRCm39) |
N34S |
probably benign |
Het |
|
| Other mutations in Mpp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01304:Mpp4
|
APN |
1 |
59,188,678 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01346:Mpp4
|
APN |
1 |
59,164,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01680:Mpp4
|
APN |
1 |
59,169,226 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02123:Mpp4
|
APN |
1 |
59,200,625 (GRCm39) |
splice site |
probably null |
|
|
IGL02299:Mpp4
|
APN |
1 |
59,197,738 (GRCm39) |
splice site |
probably benign |
|
|
IGL02793:Mpp4
|
APN |
1 |
59,175,993 (GRCm39) |
splice site |
probably null |
|
|
IGL02875:Mpp4
|
APN |
1 |
59,175,993 (GRCm39) |
splice site |
probably null |
|
|
E0370:Mpp4
|
UTSW |
1 |
59,178,917 (GRCm39) |
splice site |
probably benign |
|
|
R0391:Mpp4
|
UTSW |
1 |
59,182,988 (GRCm39) |
splice site |
probably benign |
|
|
R0517:Mpp4
|
UTSW |
1 |
59,163,886 (GRCm39) |
nonsense |
probably null |
|
|
R0725:Mpp4
|
UTSW |
1 |
59,160,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0968:Mpp4
|
UTSW |
1 |
59,169,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1753:Mpp4
|
UTSW |
1 |
59,183,969 (GRCm39) |
missense |
probably null |
1.00 |
|
R1956:Mpp4
|
UTSW |
1 |
59,197,811 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1968:Mpp4
|
UTSW |
1 |
59,183,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2062:Mpp4
|
UTSW |
1 |
59,182,941 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2064:Mpp4
|
UTSW |
1 |
59,182,941 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2065:Mpp4
|
UTSW |
1 |
59,182,941 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2068:Mpp4
|
UTSW |
1 |
59,182,941 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2088:Mpp4
|
UTSW |
1 |
59,162,624 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R2108:Mpp4
|
UTSW |
1 |
59,182,941 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2426:Mpp4
|
UTSW |
1 |
59,169,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2897:Mpp4
|
UTSW |
1 |
59,183,853 (GRCm39) |
missense |
probably benign |
|
|
R2898:Mpp4
|
UTSW |
1 |
59,183,853 (GRCm39) |
missense |
probably benign |
|
|
R3908:Mpp4
|
UTSW |
1 |
59,188,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3938:Mpp4
|
UTSW |
1 |
59,163,842 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4050:Mpp4
|
UTSW |
1 |
59,185,903 (GRCm39) |
splice site |
probably null |
|
|
R4396:Mpp4
|
UTSW |
1 |
59,183,961 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4908:Mpp4
|
UTSW |
1 |
59,164,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5169:Mpp4
|
UTSW |
1 |
59,169,256 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5185:Mpp4
|
UTSW |
1 |
59,164,742 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5249:Mpp4
|
UTSW |
1 |
59,184,017 (GRCm39) |
splice site |
probably benign |
|
|
R5333:Mpp4
|
UTSW |
1 |
59,196,600 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5563:Mpp4
|
UTSW |
1 |
59,163,788 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5779:Mpp4
|
UTSW |
1 |
59,190,825 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5934:Mpp4
|
UTSW |
1 |
59,160,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Mpp4
|
UTSW |
1 |
59,160,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6845:Mpp4
|
UTSW |
1 |
59,183,963 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7013:Mpp4
|
UTSW |
1 |
59,188,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7292:Mpp4
|
UTSW |
1 |
59,182,969 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7775:Mpp4
|
UTSW |
1 |
59,162,672 (GRCm39) |
missense |
not run |
|
|
R7778:Mpp4
|
UTSW |
1 |
59,162,672 (GRCm39) |
missense |
not run |
|
|
R7912:Mpp4
|
UTSW |
1 |
59,160,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Mpp4
|
UTSW |
1 |
59,169,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8524:Mpp4
|
UTSW |
1 |
59,183,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8894:Mpp4
|
UTSW |
1 |
59,197,743 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9231:Mpp4
|
UTSW |
1 |
59,163,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0013:Mpp4
|
UTSW |
1 |
59,162,612 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTTTGAAAGCCTAGCCTAGC -3'
(R):5'- GGGGTCCCTAAAAGCACATTTG -3'
Sequencing Primer
(F):5'- TGAAAGCCTAGCCTAGCATACTATG -3'
(R):5'- TGCTGTCAAGTCCCTGCAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation