Incidental Mutation 'R4151:Magi2'
ID |
314892 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Magi2
|
Ensembl Gene |
ENSMUSG00000040003 |
Gene Name |
membrane associated guanylate kinase, WW and PDZ domain containing 2 |
Synonyms |
Acvrinp1, Magi-2, S-SCAM |
MMRRC Submission |
040861-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4151 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
19432034-20909790 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 19432290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 2
(S2P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085872
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088516]
[ENSMUST00000197354]
[ENSMUST00000197443]
|
AlphaFold |
Q9WVQ1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000088516
AA Change: S2P
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000085872 Gene: ENSMUSG00000040003 AA Change: S2P
Domain | Start | End | E-Value | Type |
PDZ
|
26 |
101 |
5.26e-9 |
SMART |
GuKc
|
107 |
290 |
2.76e-45 |
SMART |
WW
|
302 |
334 |
7.43e-12 |
SMART |
WW
|
348 |
380 |
2.4e-6 |
SMART |
PDZ
|
433 |
509 |
3.51e-19 |
SMART |
PDZ
|
612 |
682 |
2.3e-14 |
SMART |
PDZ
|
785 |
861 |
4.04e-19 |
SMART |
low complexity region
|
893 |
907 |
N/A |
INTRINSIC |
PDZ
|
928 |
1009 |
5.05e-20 |
SMART |
low complexity region
|
1052 |
1063 |
N/A |
INTRINSIC |
PDZ
|
1147 |
1221 |
3.88e-21 |
SMART |
low complexity region
|
1257 |
1270 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180594
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197354
AA Change: S2P
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000142576 Gene: ENSMUSG00000040003 AA Change: S2P
Domain | Start | End | E-Value | Type |
PDZ
|
26 |
101 |
2.5e-11 |
SMART |
GuKc
|
107 |
290 |
1.4e-47 |
SMART |
WW
|
302 |
334 |
4.3e-14 |
SMART |
WW
|
348 |
380 |
1.4e-8 |
SMART |
PDZ
|
433 |
509 |
1.7e-21 |
SMART |
PDZ
|
612 |
682 |
1.1e-16 |
SMART |
PDZ
|
785 |
861 |
2e-21 |
SMART |
low complexity region
|
893 |
907 |
N/A |
INTRINSIC |
PDZ
|
928 |
1009 |
2.4e-22 |
SMART |
low complexity region
|
1052 |
1063 |
N/A |
INTRINSIC |
PDZ
|
1147 |
1221 |
1.9e-23 |
SMART |
low complexity region
|
1255 |
1269 |
N/A |
INTRINSIC |
low complexity region
|
1304 |
1319 |
N/A |
INTRINSIC |
low complexity region
|
1344 |
1363 |
N/A |
INTRINSIC |
low complexity region
|
1368 |
1384 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197443
AA Change: S2P
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000142764 Gene: ENSMUSG00000040003 AA Change: S2P
Domain | Start | End | E-Value | Type |
PDZ
|
26 |
101 |
2.5e-11 |
SMART |
GuKc
|
107 |
290 |
1.4e-47 |
SMART |
WW
|
302 |
334 |
4.3e-14 |
SMART |
WW
|
348 |
380 |
1.4e-8 |
SMART |
PDZ
|
433 |
509 |
1.7e-21 |
SMART |
PDZ
|
612 |
682 |
1.1e-16 |
SMART |
PDZ
|
771 |
847 |
2e-21 |
SMART |
low complexity region
|
879 |
893 |
N/A |
INTRINSIC |
PDZ
|
914 |
995 |
2.4e-22 |
SMART |
low complexity region
|
1038 |
1049 |
N/A |
INTRINSIC |
PDZ
|
1133 |
1207 |
1.9e-23 |
SMART |
low complexity region
|
1241 |
1255 |
N/A |
INTRINSIC |
low complexity region
|
1290 |
1305 |
N/A |
INTRINSIC |
low complexity region
|
1330 |
1349 |
N/A |
INTRINSIC |
low complexity region
|
1354 |
1370 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197496
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199384
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200518
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for a null allele show neonatal death and hippocampal neurons with altered dendritic spine morphology. Homozygotes for a different null allele die neonatally due to anuria and podocyte anomalies. Mice lacking all three isoforms develop proteinuria, podocytopathy and die of renal failure. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano10 |
C |
T |
9: 122,090,601 (GRCm39) |
W237* |
probably null |
Het |
Armc9 |
C |
T |
1: 86,092,497 (GRCm39) |
T87M |
probably damaging |
Het |
Astn2 |
C |
T |
4: 65,647,557 (GRCm39) |
|
probably null |
Het |
Atxn7l1 |
G |
A |
12: 33,414,481 (GRCm39) |
V506M |
probably damaging |
Het |
Cenpe |
A |
G |
3: 134,920,914 (GRCm39) |
N36D |
probably benign |
Het |
Cfap45 |
T |
A |
1: 172,359,788 (GRCm39) |
I96N |
probably damaging |
Het |
Cyp8b1 |
A |
T |
9: 121,745,134 (GRCm39) |
V66D |
probably damaging |
Het |
Dnajb6 |
C |
G |
5: 29,961,234 (GRCm39) |
L118V |
probably benign |
Het |
Dpy19l4 |
A |
G |
4: 11,309,485 (GRCm39) |
S44P |
possibly damaging |
Het |
Dync2li1 |
A |
G |
17: 84,935,763 (GRCm39) |
H20R |
probably benign |
Het |
Ecpas |
A |
T |
4: 58,836,254 (GRCm39) |
S695R |
possibly damaging |
Het |
Eif3g |
T |
C |
9: 20,806,429 (GRCm39) |
D220G |
probably benign |
Het |
Fbxo38 |
GTGCTGCTGCTGCTGCTGCTGC |
GTGCTGCTGCTGCTGCTGC |
18: 62,648,399 (GRCm39) |
|
probably benign |
Het |
Gata2 |
T |
A |
6: 88,176,620 (GRCm39) |
H26Q |
probably damaging |
Het |
Gle1 |
T |
C |
2: 29,834,056 (GRCm39) |
I434T |
probably damaging |
Het |
Gm5145 |
A |
G |
17: 20,791,360 (GRCm39) |
E246G |
probably damaging |
Het |
Ints10 |
T |
A |
8: 69,247,250 (GRCm39) |
|
probably null |
Het |
Kdr |
G |
T |
5: 76,117,761 (GRCm39) |
A664E |
possibly damaging |
Het |
Klhl1 |
A |
C |
14: 96,755,752 (GRCm39) |
M1R |
probably null |
Het |
Lama4 |
T |
A |
10: 38,881,424 (GRCm39) |
F71Y |
probably benign |
Het |
Madd |
C |
A |
2: 90,973,428 (GRCm39) |
R1410L |
probably benign |
Het |
Map4k3 |
T |
C |
17: 80,951,963 (GRCm39) |
K228R |
probably damaging |
Het |
Mrpl43 |
A |
G |
19: 44,994,175 (GRCm39) |
L148P |
possibly damaging |
Het |
Msi2 |
G |
C |
11: 88,608,870 (GRCm39) |
S16C |
probably damaging |
Het |
Myo1e |
G |
T |
9: 70,204,633 (GRCm39) |
G78* |
probably null |
Het |
Notch2 |
T |
C |
3: 98,054,387 (GRCm39) |
L2350S |
possibly damaging |
Het |
Nptn |
G |
T |
9: 58,550,825 (GRCm39) |
S168I |
probably benign |
Het |
Nsmce2 |
A |
G |
15: 59,473,214 (GRCm39) |
T244A |
probably benign |
Het |
Or5aq6 |
C |
T |
2: 86,923,514 (GRCm39) |
V76I |
probably benign |
Het |
Ostn |
T |
A |
16: 27,140,152 (GRCm39) |
S22T |
probably benign |
Het |
Plekhb2 |
T |
G |
1: 34,903,564 (GRCm39) |
F102V |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,634,637 (GRCm39) |
D3594G |
probably benign |
Het |
Psmd6 |
G |
C |
14: 14,120,157 (GRCm38) |
L61V |
probably benign |
Het |
Rbm33 |
C |
T |
5: 28,592,938 (GRCm39) |
P573S |
probably damaging |
Het |
Rfk |
A |
C |
19: 17,372,672 (GRCm39) |
I65L |
probably benign |
Het |
Rnf141 |
A |
T |
7: 110,436,406 (GRCm39) |
D7E |
probably benign |
Het |
Shank2 |
A |
T |
7: 143,608,565 (GRCm39) |
K153M |
probably damaging |
Het |
Slc30a2 |
A |
T |
4: 134,071,359 (GRCm39) |
I31F |
probably benign |
Het |
Slco3a1 |
G |
T |
7: 74,009,586 (GRCm39) |
A243E |
probably damaging |
Het |
Stab2 |
G |
A |
10: 86,838,847 (GRCm39) |
T73I |
probably benign |
Het |
Sufu |
G |
A |
19: 46,438,411 (GRCm39) |
|
probably null |
Het |
Sync |
C |
T |
4: 129,187,519 (GRCm39) |
Q184* |
probably null |
Het |
Tnfrsf25 |
G |
T |
4: 152,204,258 (GRCm39) |
A376S |
probably damaging |
Het |
Tnpo1 |
A |
T |
13: 98,989,407 (GRCm39) |
I765N |
probably damaging |
Het |
Ube2d2b |
A |
T |
5: 107,978,747 (GRCm39) |
K133* |
probably null |
Het |
Ulk3 |
C |
T |
9: 57,499,650 (GRCm39) |
S217L |
possibly damaging |
Het |
Upf2 |
C |
A |
2: 5,966,516 (GRCm39) |
Q379K |
unknown |
Het |
Vegfc |
T |
A |
8: 54,530,824 (GRCm39) |
L4Q |
unknown |
Het |
Vmn2r104 |
A |
T |
17: 20,250,147 (GRCm39) |
I708N |
probably damaging |
Het |
|
Other mutations in Magi2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00908:Magi2
|
APN |
5 |
20,596,299 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02120:Magi2
|
APN |
5 |
20,433,451 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02341:Magi2
|
APN |
5 |
20,671,201 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02411:Magi2
|
APN |
5 |
19,883,707 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02657:Magi2
|
APN |
5 |
19,432,581 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02976:Magi2
|
APN |
5 |
20,739,473 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03105:Magi2
|
APN |
5 |
20,748,616 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03246:Magi2
|
APN |
5 |
20,563,948 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03329:Magi2
|
APN |
5 |
20,671,126 (GRCm39) |
missense |
possibly damaging |
0.95 |
LCD18:Magi2
|
UTSW |
5 |
20,159,509 (GRCm39) |
intron |
probably benign |
|
PIT4519001:Magi2
|
UTSW |
5 |
20,866,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R0009:Magi2
|
UTSW |
5 |
20,816,053 (GRCm39) |
missense |
probably benign |
0.15 |
R0009:Magi2
|
UTSW |
5 |
20,816,053 (GRCm39) |
missense |
probably benign |
0.15 |
R0352:Magi2
|
UTSW |
5 |
20,270,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R0362:Magi2
|
UTSW |
5 |
19,432,573 (GRCm39) |
missense |
probably damaging |
1.00 |
R0496:Magi2
|
UTSW |
5 |
20,866,357 (GRCm39) |
splice site |
probably benign |
|
R1103:Magi2
|
UTSW |
5 |
20,816,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R1435:Magi2
|
UTSW |
5 |
20,563,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R1583:Magi2
|
UTSW |
5 |
19,432,330 (GRCm39) |
missense |
probably benign |
0.30 |
R1616:Magi2
|
UTSW |
5 |
20,814,324 (GRCm39) |
missense |
probably damaging |
1.00 |
R1643:Magi2
|
UTSW |
5 |
20,910,504 (GRCm39) |
unclassified |
probably benign |
|
R1707:Magi2
|
UTSW |
5 |
20,420,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R1833:Magi2
|
UTSW |
5 |
19,432,455 (GRCm39) |
missense |
probably damaging |
1.00 |
R1837:Magi2
|
UTSW |
5 |
20,670,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R1838:Magi2
|
UTSW |
5 |
20,670,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R1839:Magi2
|
UTSW |
5 |
20,670,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R1847:Magi2
|
UTSW |
5 |
20,807,458 (GRCm39) |
missense |
probably damaging |
0.99 |
R2223:Magi2
|
UTSW |
5 |
20,670,670 (GRCm39) |
missense |
probably damaging |
1.00 |
R2496:Magi2
|
UTSW |
5 |
19,883,750 (GRCm39) |
missense |
probably benign |
0.42 |
R2504:Magi2
|
UTSW |
5 |
20,563,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R2848:Magi2
|
UTSW |
5 |
20,807,459 (GRCm39) |
frame shift |
probably null |
|
R2879:Magi2
|
UTSW |
5 |
20,807,459 (GRCm39) |
frame shift |
probably null |
|
R2935:Magi2
|
UTSW |
5 |
20,807,459 (GRCm39) |
frame shift |
probably null |
|
R2936:Magi2
|
UTSW |
5 |
20,807,459 (GRCm39) |
frame shift |
probably null |
|
R3694:Magi2
|
UTSW |
5 |
20,807,459 (GRCm39) |
frame shift |
probably null |
|
R3783:Magi2
|
UTSW |
5 |
20,670,907 (GRCm39) |
missense |
probably damaging |
0.97 |
R3786:Magi2
|
UTSW |
5 |
20,670,907 (GRCm39) |
missense |
probably damaging |
0.97 |
R3787:Magi2
|
UTSW |
5 |
20,670,907 (GRCm39) |
missense |
probably damaging |
0.97 |
R3837:Magi2
|
UTSW |
5 |
20,420,466 (GRCm39) |
missense |
probably benign |
0.28 |
R4721:Magi2
|
UTSW |
5 |
20,739,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R5005:Magi2
|
UTSW |
5 |
20,739,444 (GRCm39) |
missense |
probably damaging |
0.98 |
R5012:Magi2
|
UTSW |
5 |
20,670,618 (GRCm39) |
missense |
probably damaging |
0.99 |
R5193:Magi2
|
UTSW |
5 |
20,563,970 (GRCm39) |
critical splice donor site |
probably null |
|
R5298:Magi2
|
UTSW |
5 |
20,774,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R5372:Magi2
|
UTSW |
5 |
20,907,108 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5580:Magi2
|
UTSW |
5 |
20,420,422 (GRCm39) |
missense |
probably benign |
0.03 |
R5806:Magi2
|
UTSW |
5 |
20,856,202 (GRCm39) |
missense |
probably benign |
0.01 |
R5924:Magi2
|
UTSW |
5 |
20,816,067 (GRCm39) |
missense |
probably benign |
0.00 |
R5992:Magi2
|
UTSW |
5 |
19,432,289 (GRCm39) |
start codon destroyed |
probably null |
0.42 |
R6014:Magi2
|
UTSW |
5 |
20,816,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R6073:Magi2
|
UTSW |
5 |
20,774,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R6500:Magi2
|
UTSW |
5 |
20,807,345 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6664:Magi2
|
UTSW |
5 |
20,907,395 (GRCm39) |
missense |
probably benign |
0.00 |
R7229:Magi2
|
UTSW |
5 |
20,670,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R7344:Magi2
|
UTSW |
5 |
20,755,238 (GRCm39) |
missense |
probably benign |
0.19 |
R7448:Magi2
|
UTSW |
5 |
20,563,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R7605:Magi2
|
UTSW |
5 |
20,433,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R7712:Magi2
|
UTSW |
5 |
20,755,280 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7808:Magi2
|
UTSW |
5 |
20,670,838 (GRCm39) |
missense |
probably benign |
0.03 |
R7955:Magi2
|
UTSW |
5 |
20,594,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R8134:Magi2
|
UTSW |
5 |
20,596,392 (GRCm39) |
missense |
probably benign |
0.03 |
R8134:Magi2
|
UTSW |
5 |
20,596,365 (GRCm39) |
missense |
probably damaging |
1.00 |
R8253:Magi2
|
UTSW |
5 |
20,814,305 (GRCm39) |
missense |
probably benign |
0.44 |
R8481:Magi2
|
UTSW |
5 |
20,594,152 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8553:Magi2
|
UTSW |
5 |
20,856,198 (GRCm39) |
missense |
probably benign |
0.00 |
R8751:Magi2
|
UTSW |
5 |
20,739,462 (GRCm39) |
missense |
probably benign |
|
R8766:Magi2
|
UTSW |
5 |
20,400,123 (GRCm39) |
missense |
probably benign |
0.33 |
R8851:Magi2
|
UTSW |
5 |
20,270,618 (GRCm39) |
missense |
probably damaging |
1.00 |
R8876:Magi2
|
UTSW |
5 |
20,856,190 (GRCm39) |
nonsense |
probably null |
|
R9120:Magi2
|
UTSW |
5 |
20,733,305 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9335:Magi2
|
UTSW |
5 |
20,866,263 (GRCm39) |
missense |
|
|
R9367:Magi2
|
UTSW |
5 |
20,766,308 (GRCm39) |
missense |
probably damaging |
0.97 |
R9454:Magi2
|
UTSW |
5 |
20,671,176 (GRCm39) |
missense |
probably damaging |
0.97 |
R9474:Magi2
|
UTSW |
5 |
20,400,019 (GRCm39) |
missense |
probably benign |
0.00 |
R9577:Magi2
|
UTSW |
5 |
20,814,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R9673:Magi2
|
UTSW |
5 |
20,670,582 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9696:Magi2
|
UTSW |
5 |
20,670,864 (GRCm39) |
missense |
probably benign |
0.35 |
X0065:Magi2
|
UTSW |
5 |
20,774,176 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1176:Magi2
|
UTSW |
5 |
20,907,107 (GRCm39) |
missense |
probably benign |
0.32 |
Z1177:Magi2
|
UTSW |
5 |
20,907,410 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTGTCATTCAAGGGACAGCAC -3'
(R):5'- CTTGCTGCCGCTTTCATAGG -3'
Sequencing Primer
(F):5'- TTCAAGGGACAGCACAACCTC -3'
(R):5'- GCCGCTTTCATAGGCCACC -3'
|
Posted On |
2015-05-14 |