Incidental Mutation 'IGL02624:Gpsm2'
| ID |
301006 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpsm2
|
| Ensembl Gene |
ENSMUSG00000027883 |
| Gene Name |
G-protein signalling modulator 2 (AGS3-like, C. elegans) |
| Synonyms |
6230410J09Rik, LGN, Pins |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.915)
|
| Stock # |
IGL02624
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
108585954-108629625 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 108589349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 596
(D596E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029482
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029482]
[ENSMUST00000029483]
[ENSMUST00000106609]
[ENSMUST00000106613]
|
| AlphaFold |
Q8VDU0 |
| PDB Structure |
Structures of the LGN/NuMA complex [X-RAY DIFFRACTION]
crystal structure of LGN/mInscuteable complex [X-RAY DIFFRACTION]
Structure complex of LGN binding with FRMPD1 [X-RAY DIFFRACTION]
Structure of LGN GL4/Galphai3(Q147L) complex [X-RAY DIFFRACTION]
Structure of LGN GL4/Galphai1 complex [X-RAY DIFFRACTION]
Structure of LGN GL4/Galphai3 complex [X-RAY DIFFRACTION]
Structure of LGN GL3/Galphai3 complex [X-RAY DIFFRACTION]
An auto-inhibited conformation of LGN reveals a distinct interaction mode between GoLoco motifs and TPR motifs [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029482
AA Change: D596E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000029482
Gene: ENSMUSG00000027883
AA Change: D596E
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
62 |
95 |
7.86e-3 |
SMART |
|
TPR
|
102 |
135 |
4.34e-5 |
SMART |
|
Blast:TPR
|
142 |
188 |
9e-22 |
BLAST |
|
TPR
|
202 |
235 |
1.69e-2 |
SMART |
|
TPR
|
242 |
275 |
3.99e-4 |
SMART |
|
TPR
|
282 |
315 |
1.51e-4 |
SMART |
|
TPR
|
322 |
355 |
1.04e-2 |
SMART |
|
GoLoco
|
490 |
512 |
3.69e-9 |
SMART |
|
low complexity region
|
518 |
527 |
N/A |
INTRINSIC |
|
GoLoco
|
543 |
565 |
7.27e-8 |
SMART |
|
GoLoco
|
594 |
616 |
2.31e-10 |
SMART |
|
GoLoco
|
628 |
650 |
2.75e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029483
|
| SMART Domains |
Protein: ENSMUSP00000029483
Gene: ENSMUSG00000027884
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCLC
|
3 |
539 |
2e-266 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106609
|
| SMART Domains |
Protein: ENSMUSP00000102220
Gene: ENSMUSG00000027884
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCLC
|
3 |
539 |
2e-266 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106613
|
| SMART Domains |
Protein: ENSMUSP00000102224
Gene: ENSMUSG00000027884
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MCLC
|
8 |
544 |
N/A |
PFAM |
|
| Coding Region Coverage |
|
| 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 belongs to a family of proteins that modulate activation of G proteins, which transduce extracellular signals received by cell surface receptors into integrated cellular responses. The N-terminal half of this protein contains 10 copies of leu-gly-asn (LGN) repeat, and the C-terminal half contains 4 GoLoco motifs, which are involved in guanine nucleotide exchange. This protein may play a role in neuroblast division and in the development of normal hearing. Mutations in this gene are associated with autosomal recessive nonsyndromic deafness (DFNB82). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Targeted disruption of this gene randomizes the spindle orientation of normally planar neuroepithelial divisions. The ensuing loss of the apical membrane from daughter cells frequently converts them into abnormally localized progenitors with no apparent effect on neuronal production. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930004D18Rik |
A |
G |
2: 18,032,004 (GRCm39) |
V38A |
unknown |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Brk1 |
T |
G |
6: 113,581,805 (GRCm39) |
I22M |
possibly damaging |
Het |
| Cd3g |
A |
G |
9: 44,885,459 (GRCm39) |
|
probably null |
Het |
| Cep192 |
T |
C |
18: 68,013,866 (GRCm39) |
V2422A |
probably benign |
Het |
| Ces2g |
T |
C |
8: 105,691,380 (GRCm39) |
V172A |
probably damaging |
Het |
| Clcn2 |
G |
T |
16: 20,522,098 (GRCm39) |
S830R |
probably damaging |
Het |
| Cyp26b1 |
T |
C |
6: 84,561,321 (GRCm39) |
S114G |
probably benign |
Het |
| Dnali1 |
T |
C |
4: 124,952,791 (GRCm39) |
Q244R |
probably benign |
Het |
| Entpd1 |
A |
T |
19: 40,714,502 (GRCm39) |
K204* |
probably null |
Het |
| Gm5070 |
A |
G |
3: 95,318,219 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd1 |
C |
T |
12: 51,809,233 (GRCm39) |
A1743T |
possibly damaging |
Het |
| Kcnq5 |
T |
G |
1: 21,472,654 (GRCm39) |
L845F |
probably benign |
Het |
| Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
| Lrp1 |
A |
T |
10: 127,408,291 (GRCm39) |
I1795N |
probably damaging |
Het |
| Lsp1 |
C |
T |
7: 142,044,288 (GRCm39) |
|
probably benign |
Het |
| Mcm6 |
C |
T |
1: 128,277,185 (GRCm39) |
A213T |
possibly damaging |
Het |
| Mylk |
G |
T |
16: 34,750,266 (GRCm39) |
V1202L |
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,848,010 (GRCm39) |
Y1083H |
probably damaging |
Het |
| Ncoa5 |
T |
A |
2: 164,854,981 (GRCm39) |
D47V |
probably damaging |
Het |
| Npat |
C |
T |
9: 53,478,110 (GRCm39) |
T954I |
probably damaging |
Het |
| Or2b28 |
A |
G |
13: 21,531,682 (GRCm39) |
T195A |
probably benign |
Het |
| Or5p1 |
A |
T |
7: 107,916,130 (GRCm39) |
T10S |
probably benign |
Het |
| Pfkm |
T |
C |
15: 98,024,276 (GRCm39) |
I428T |
probably benign |
Het |
| Rai1 |
T |
C |
11: 60,079,569 (GRCm39) |
F1211S |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,308,355 (GRCm39) |
E338G |
probably benign |
Het |
| Tbx18 |
T |
C |
9: 87,609,459 (GRCm39) |
Y192C |
probably damaging |
Het |
| Tex21 |
T |
A |
12: 76,261,398 (GRCm39) |
D250V |
probably damaging |
Het |
| Tpo |
A |
G |
12: 30,150,413 (GRCm39) |
V489A |
probably benign |
Het |
| Tspo |
T |
C |
15: 83,455,616 (GRCm39) |
M1T |
probably null |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Wnk2 |
C |
T |
13: 49,256,278 (GRCm39) |
G281D |
probably damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,304,085 (GRCm39) |
T1300A |
probably benign |
Het |
|
| Other mutations in Gpsm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01597:Gpsm2
|
APN |
3 |
108,604,303 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01754:Gpsm2
|
APN |
3 |
108,610,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03005:Gpsm2
|
APN |
3 |
108,594,322 (GRCm39) |
splice site |
probably benign |
|
|
R0482:Gpsm2
|
UTSW |
3 |
108,609,710 (GRCm39) |
splice site |
probably benign |
|
|
R1793:Gpsm2
|
UTSW |
3 |
108,608,225 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1796:Gpsm2
|
UTSW |
3 |
108,609,166 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4174:Gpsm2
|
UTSW |
3 |
108,609,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Gpsm2
|
UTSW |
3 |
108,610,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7325:Gpsm2
|
UTSW |
3 |
108,610,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7400:Gpsm2
|
UTSW |
3 |
108,587,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7574:Gpsm2
|
UTSW |
3 |
108,608,061 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7657:Gpsm2
|
UTSW |
3 |
108,608,061 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7709:Gpsm2
|
UTSW |
3 |
108,609,097 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8181:Gpsm2
|
UTSW |
3 |
108,597,080 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8511:Gpsm2
|
UTSW |
3 |
108,589,399 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8880:Gpsm2
|
UTSW |
3 |
108,610,335 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9399:Gpsm2
|
UTSW |
3 |
108,590,090 (GRCm39) |
nonsense |
probably null |
|
|
R9439:Gpsm2
|
UTSW |
3 |
108,610,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Gpsm2
|
UTSW |
3 |
108,608,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation