Incidental Mutation 'R2363:Mpp3'
| ID |
247240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mpp3
|
| Ensembl Gene |
ENSMUSG00000052373 |
| Gene Name |
membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) |
| Synonyms |
Dlgh3 |
| MMRRC Submission |
040344-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2363 (G1)
|
| Quality Score |
177 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101890478-101919287 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101911312 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 170
(A170V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062801]
[ENSMUST00000100400]
[ENSMUST00000107167]
[ENSMUST00000107168]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062801
AA Change: A170V
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000055469
Gene: ENSMUSG00000052373
AA Change: A170V
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
10 |
64 |
1.5e-8 |
SMART |
|
L27
|
68 |
121 |
1.18e-15 |
SMART |
|
PDZ
|
145 |
218 |
1.06e-13 |
SMART |
|
SH3
|
229 |
295 |
7.7e-9 |
SMART |
|
GuKc
|
384 |
573 |
1.76e-70 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100400
AA Change: A170V
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097969
Gene: ENSMUSG00000052373
AA Change: A170V
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
10 |
64 |
1.5e-8 |
SMART |
|
L27
|
68 |
121 |
1.18e-15 |
SMART |
|
PDZ
|
145 |
218 |
1.06e-13 |
SMART |
|
SH3
|
229 |
295 |
7.7e-9 |
SMART |
|
GuKc
|
384 |
573 |
1.76e-70 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107167
AA Change: A170V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102785
Gene: ENSMUSG00000052373
AA Change: A170V
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
10 |
64 |
1.5e-8 |
SMART |
|
L27
|
68 |
121 |
1.18e-15 |
SMART |
|
PDZ
|
145 |
215 |
5.86e-7 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107168
AA Change: A170V
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102786
Gene: ENSMUSG00000052373
AA Change: A170V
| Domain | Start | End | E-Value | Type |
|---|
|
L27
|
10 |
64 |
1.5e-8 |
SMART |
|
L27
|
68 |
121 |
1.18e-15 |
SMART |
|
PDZ
|
145 |
218 |
1.06e-13 |
SMART |
|
SH3
|
229 |
295 |
7.7e-9 |
SMART |
|
GuKc
|
384 |
573 |
1.76e-70 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141403
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147838
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155751
|
| Meta Mutation Damage Score |
0.4749 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
98% (51/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a member of a family of membrane-associated proteins termed MAGUKs (membrane-associated guanylate kinase homologs). MAGUKs interact with the cytoskeleton and regulate cell proliferation, signaling pathways, and intracellular junctions. This protein contains a conserved sequence, called the SH3 (src homology 3) motif, found in several other proteins that associate with the cytoskeleton and are suspected to play important roles in signal transduction. Alternatively spliced transcript variants have been identified. One transcript variant is experimentally supported, but it doesn't encode a protein. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
T |
C |
2: 103,397,528 (GRCm39) |
C153R |
probably damaging |
Het |
| Adam23 |
A |
G |
1: 63,596,650 (GRCm39) |
|
probably null |
Het |
| Adpgk |
G |
T |
9: 59,222,136 (GRCm39) |
M354I |
probably benign |
Het |
| Atmin |
G |
T |
8: 117,681,653 (GRCm39) |
|
probably null |
Het |
| C1rl |
G |
A |
6: 124,486,069 (GRCm39) |
G480D |
probably benign |
Het |
| C4b |
G |
A |
17: 34,955,032 (GRCm39) |
|
probably benign |
Het |
| Cacnb1 |
G |
A |
11: 97,903,672 (GRCm39) |
T127I |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,230,210 (GRCm39) |
V1626E |
probably benign |
Het |
| Cndp2 |
C |
T |
18: 84,686,694 (GRCm39) |
G443S |
probably damaging |
Het |
| Crb1 |
A |
G |
1: 139,265,016 (GRCm39) |
I134T |
possibly damaging |
Het |
| Dnaaf3 |
T |
C |
7: 4,535,276 (GRCm39) |
|
probably null |
Het |
| Enam |
C |
T |
5: 88,651,008 (GRCm39) |
P764L |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fbln1 |
G |
A |
15: 85,111,341 (GRCm39) |
|
probably null |
Het |
| Flnb |
A |
G |
14: 7,945,950 (GRCm38) |
I2452V |
possibly damaging |
Het |
| Fmo3 |
A |
T |
1: 162,781,884 (GRCm39) |
W490R |
probably damaging |
Het |
| Gabrb1 |
C |
T |
5: 72,026,916 (GRCm39) |
R106* |
probably null |
Het |
| Galnt4 |
C |
T |
10: 98,944,923 (GRCm39) |
T216I |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Golph3 |
A |
G |
15: 12,349,649 (GRCm39) |
D223G |
probably benign |
Het |
| Herc4 |
T |
A |
10: 63,151,473 (GRCm39) |
F905I |
possibly damaging |
Het |
| Il23r |
T |
C |
6: 67,429,401 (GRCm39) |
T314A |
probably benign |
Het |
| Lrrtm4 |
T |
C |
6: 79,998,857 (GRCm39) |
W90R |
probably damaging |
Het |
| Maml2 |
C |
T |
9: 13,532,541 (GRCm39) |
T585I |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,452,928 (GRCm39) |
K44N |
possibly damaging |
Het |
| Or10aa3 |
C |
T |
1: 173,878,814 (GRCm39) |
R292C |
probably damaging |
Het |
| Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
| Or1e17 |
A |
G |
11: 73,831,182 (GRCm39) |
T37A |
possibly damaging |
Het |
| Or4k51 |
C |
T |
2: 111,585,139 (GRCm39) |
P182S |
probably damaging |
Het |
| Or51b6 |
T |
A |
7: 103,556,267 (GRCm39) |
M207K |
probably benign |
Het |
| Or6f2 |
A |
G |
7: 139,756,878 (GRCm39) |
T282A |
probably damaging |
Het |
| Or7e165 |
T |
G |
9: 19,694,892 (GRCm39) |
I154M |
probably benign |
Het |
| Or8c10 |
T |
C |
9: 38,279,394 (GRCm39) |
I174T |
probably damaging |
Het |
| Pak1 |
T |
A |
7: 97,535,521 (GRCm39) |
V204E |
probably benign |
Het |
| Pcdhb10 |
T |
A |
18: 37,547,190 (GRCm39) |
C755* |
probably null |
Het |
| Pcdhb20 |
A |
G |
18: 37,638,725 (GRCm39) |
Y417C |
probably damaging |
Het |
| Pkd1l3 |
G |
T |
8: 110,355,341 (GRCm39) |
W723L |
probably benign |
Het |
| Plin1 |
C |
T |
7: 79,376,139 (GRCm39) |
|
probably null |
Het |
| Polr3a |
A |
T |
14: 24,525,960 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
T |
10: 58,314,758 (GRCm39) |
K1826I |
possibly damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,626,608 (GRCm39) |
I970V |
possibly damaging |
Het |
| Rdx |
C |
A |
9: 51,980,173 (GRCm39) |
F255L |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,267,447 (GRCm39) |
H1011L |
possibly damaging |
Het |
| Serpina6 |
T |
C |
12: 103,614,868 (GRCm39) |
D326G |
probably benign |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,966 (GRCm39) |
E909G |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,047,697 (GRCm39) |
V1015D |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,920 (GRCm39) |
Y629N |
probably damaging |
Het |
| Triml1 |
A |
G |
8: 43,594,408 (GRCm39) |
S8P |
probably damaging |
Het |
|
| Other mutations in Mpp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00507:Mpp3
|
APN |
11 |
101,892,929 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01337:Mpp3
|
APN |
11 |
101,891,411 (GRCm39) |
missense |
probably benign |
|
|
IGL01393:Mpp3
|
APN |
11 |
101,916,304 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01544:Mpp3
|
APN |
11 |
101,909,485 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02152:Mpp3
|
APN |
11 |
101,916,216 (GRCm39) |
nonsense |
probably null |
|
|
IGL02441:Mpp3
|
APN |
11 |
101,900,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02656:Mpp3
|
APN |
11 |
101,899,427 (GRCm39) |
missense |
probably benign |
|
|
R0013:Mpp3
|
UTSW |
11 |
101,896,251 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0117:Mpp3
|
UTSW |
11 |
101,891,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0564:Mpp3
|
UTSW |
11 |
101,896,173 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1372:Mpp3
|
UTSW |
11 |
101,891,401 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1531:Mpp3
|
UTSW |
11 |
101,899,475 (GRCm39) |
missense |
probably benign |
|
|
R1639:Mpp3
|
UTSW |
11 |
101,914,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1720:Mpp3
|
UTSW |
11 |
101,916,582 (GRCm39) |
start codon destroyed |
possibly damaging |
0.79 |
|
R1968:Mpp3
|
UTSW |
11 |
101,909,378 (GRCm39) |
intron |
probably benign |
|
|
R2064:Mpp3
|
UTSW |
11 |
101,891,516 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3775:Mpp3
|
UTSW |
11 |
101,914,193 (GRCm39) |
nonsense |
probably null |
|
|
R3776:Mpp3
|
UTSW |
11 |
101,914,193 (GRCm39) |
nonsense |
probably null |
|
|
R4208:Mpp3
|
UTSW |
11 |
101,891,426 (GRCm39) |
missense |
probably benign |
|
|
R4287:Mpp3
|
UTSW |
11 |
101,914,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4327:Mpp3
|
UTSW |
11 |
101,914,337 (GRCm39) |
intron |
probably benign |
|
|
R4329:Mpp3
|
UTSW |
11 |
101,914,337 (GRCm39) |
intron |
probably benign |
|
|
R4367:Mpp3
|
UTSW |
11 |
101,914,246 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4856:Mpp3
|
UTSW |
11 |
101,915,962 (GRCm39) |
missense |
probably benign |
|
|
R4886:Mpp3
|
UTSW |
11 |
101,915,962 (GRCm39) |
missense |
probably benign |
|
|
R4904:Mpp3
|
UTSW |
11 |
101,891,413 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4946:Mpp3
|
UTSW |
11 |
101,895,848 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5405:Mpp3
|
UTSW |
11 |
101,901,047 (GRCm39) |
missense |
probably benign |
|
|
R5935:Mpp3
|
UTSW |
11 |
101,916,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6020:Mpp3
|
UTSW |
11 |
101,909,365 (GRCm39) |
intron |
probably benign |
|
|
R6056:Mpp3
|
UTSW |
11 |
101,902,515 (GRCm39) |
splice site |
probably null |
|
|
R6151:Mpp3
|
UTSW |
11 |
101,899,392 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6677:Mpp3
|
UTSW |
11 |
101,899,444 (GRCm39) |
missense |
probably benign |
|
|
R6784:Mpp3
|
UTSW |
11 |
101,892,974 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6855:Mpp3
|
UTSW |
11 |
101,904,151 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7227:Mpp3
|
UTSW |
11 |
101,895,904 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7635:Mpp3
|
UTSW |
11 |
101,916,209 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7974:Mpp3
|
UTSW |
11 |
101,899,180 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8330:Mpp3
|
UTSW |
11 |
101,899,453 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8331:Mpp3
|
UTSW |
11 |
101,902,541 (GRCm39) |
splice site |
probably null |
|
|
R8993:Mpp3
|
UTSW |
11 |
101,891,491 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9154:Mpp3
|
UTSW |
11 |
101,911,328 (GRCm39) |
missense |
|
|
|
R9593:Mpp3
|
UTSW |
11 |
101,907,506 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9655:Mpp3
|
UTSW |
11 |
101,899,481 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Mpp3
|
UTSW |
11 |
101,899,182 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATCTTCTGCCAGGTGTCTG -3'
(R):5'- CATGGATTCACCTTCCGCTG -3'
Sequencing Primer
(F):5'- ATGAGAACTCCAAGCCTATTAGG -3'
(R):5'- GGATTCACCTTCCGCTGTATCAGAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation