Incidental Mutation 'R1271:Gpsm1'
ID |
151297 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpsm1
|
Ensembl Gene |
ENSMUSG00000026930 |
Gene Name |
G-protein signalling modulator 1 (AGS3-like, C. elegans) |
Synonyms |
Ags3, 1810037C22Rik |
MMRRC Submission |
039337-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1271 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
26205527-26238249 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 26234684 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 507
(R507L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000065000
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028295]
[ENSMUST00000066889]
[ENSMUST00000066936]
[ENSMUST00000078616]
[ENSMUST00000114134]
[ENSMUST00000127453]
|
AlphaFold |
Q6IR34 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028295
|
SMART Domains |
Protein: ENSMUSP00000028295 Gene: ENSMUSG00000075467
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
67 |
N/A |
INTRINSIC |
Pfam:zf-DNL
|
74 |
139 |
4.1e-34 |
PFAM |
low complexity region
|
158 |
172 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066889
AA Change: R539L
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000067964 Gene: ENSMUSG00000026930 AA Change: R539L
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
43 |
N/A |
INTRINSIC |
TPR
|
98 |
131 |
1.45e-1 |
SMART |
TPR
|
138 |
171 |
7.06e-5 |
SMART |
TPR
|
238 |
271 |
5.96e-3 |
SMART |
TPR
|
278 |
311 |
1.47e-2 |
SMART |
TPR
|
318 |
351 |
5.19e-3 |
SMART |
TPR
|
358 |
391 |
1.33e0 |
SMART |
GoLoco
|
525 |
547 |
7.38e-9 |
SMART |
low complexity region
|
548 |
560 |
N/A |
INTRINSIC |
GoLoco
|
578 |
600 |
4.24e-9 |
SMART |
GoLoco
|
626 |
648 |
5.22e-9 |
SMART |
GoLoco
|
660 |
682 |
3.58e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066936
AA Change: R507L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000065000 Gene: ENSMUSG00000026930 AA Change: R507L
Domain | Start | End | E-Value | Type |
TPR
|
66 |
99 |
1.45e-1 |
SMART |
TPR
|
106 |
139 |
7.06e-5 |
SMART |
TPR
|
206 |
239 |
5.96e-3 |
SMART |
TPR
|
246 |
279 |
1.47e-2 |
SMART |
TPR
|
286 |
319 |
5.19e-3 |
SMART |
TPR
|
326 |
359 |
1.33e0 |
SMART |
GoLoco
|
493 |
515 |
7.38e-9 |
SMART |
low complexity region
|
516 |
528 |
N/A |
INTRINSIC |
GoLoco
|
546 |
568 |
4.24e-9 |
SMART |
GoLoco
|
594 |
616 |
5.22e-9 |
SMART |
GoLoco
|
628 |
650 |
3.58e-7 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078616
AA Change: R447L
PolyPhen 2
Score 0.751 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000077686 Gene: ENSMUSG00000026930 AA Change: R447L
Domain | Start | End | E-Value | Type |
TPR
|
66 |
99 |
1.45e-1 |
SMART |
TPR
|
106 |
139 |
7.06e-5 |
SMART |
TPR
|
206 |
239 |
5.96e-3 |
SMART |
TPR
|
246 |
279 |
1.47e-2 |
SMART |
TPR
|
286 |
319 |
5.19e-3 |
SMART |
TPR
|
326 |
359 |
1.33e0 |
SMART |
GoLoco
|
433 |
455 |
7.38e-9 |
SMART |
low complexity region
|
456 |
468 |
N/A |
INTRINSIC |
GoLoco
|
486 |
508 |
4.24e-9 |
SMART |
GoLoco
|
534 |
556 |
5.22e-9 |
SMART |
GoLoco
|
568 |
590 |
3.58e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114134
AA Change: R70L
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000109769 Gene: ENSMUSG00000026930 AA Change: R70L
Domain | Start | End | E-Value | Type |
GoLoco
|
56 |
78 |
7.38e-9 |
SMART |
low complexity region
|
79 |
91 |
N/A |
INTRINSIC |
GoLoco
|
109 |
131 |
4.24e-9 |
SMART |
GoLoco
|
157 |
179 |
5.22e-9 |
SMART |
GoLoco
|
191 |
213 |
3.58e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123981
|
Predicted Effect |
unknown
Transcript: ENSMUST00000145884
AA Change: R330L
|
SMART Domains |
Protein: ENSMUSP00000115680 Gene: ENSMUSG00000026930 AA Change: R330L
Domain | Start | End | E-Value | Type |
Blast:TPR
|
22 |
68 |
1e-9 |
BLAST |
Pfam:TPR_1
|
82 |
107 |
2.3e-4 |
PFAM |
Pfam:TPR_12
|
82 |
147 |
7.9e-12 |
PFAM |
Pfam:TPR_7
|
84 |
119 |
1.4e-5 |
PFAM |
Pfam:TPR_2
|
122 |
147 |
6.2e-4 |
PFAM |
Pfam:TPR_8
|
123 |
146 |
1.4e-2 |
PFAM |
Blast:TPR
|
150 |
183 |
4e-15 |
BLAST |
GoLoco
|
317 |
339 |
7.38e-9 |
SMART |
low complexity region
|
340 |
352 |
N/A |
INTRINSIC |
GoLoco
|
370 |
392 |
4.24e-9 |
SMART |
GoLoco
|
418 |
440 |
5.22e-9 |
SMART |
GoLoco
|
452 |
474 |
3.58e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125848
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132276
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152895
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142057
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147873
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153064
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127453
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit a lean phenotype, reduced fat mass, increased food consumption, increased nocturnal energy expenditure and altered blood pressure control mechanisms; surprisingly, their basal behavior and gross brain morphology remain normal. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019D03Rik |
A |
T |
1: 52,964,493 (GRCm39) |
D78E |
possibly damaging |
Het |
4930447C04Rik |
A |
T |
12: 72,939,657 (GRCm39) |
F419I |
possibly damaging |
Het |
Abca14 |
T |
C |
7: 119,924,340 (GRCm39) |
V1664A |
probably damaging |
Het |
Acadvl |
A |
G |
11: 69,905,526 (GRCm39) |
S71P |
probably damaging |
Het |
Adcy2 |
A |
T |
13: 68,790,617 (GRCm39) |
C916S |
probably damaging |
Het |
Atad2 |
T |
C |
15: 57,989,985 (GRCm39) |
T164A |
probably benign |
Het |
Ccdc18 |
A |
T |
5: 108,349,982 (GRCm39) |
K1045* |
probably null |
Het |
Cemip2 |
T |
A |
19: 21,801,268 (GRCm39) |
I795N |
possibly damaging |
Het |
Cfap43 |
C |
T |
19: 47,728,183 (GRCm39) |
E1525K |
probably benign |
Het |
Cfap43 |
G |
T |
19: 47,736,387 (GRCm39) |
S1368Y |
probably damaging |
Het |
Csmd3 |
T |
A |
15: 47,874,455 (GRCm39) |
I610L |
probably benign |
Het |
Des |
A |
T |
1: 75,337,290 (GRCm39) |
T77S |
probably benign |
Het |
Fnip1 |
T |
C |
11: 54,394,123 (GRCm39) |
V853A |
probably benign |
Het |
Gabrg1 |
T |
A |
5: 70,934,487 (GRCm39) |
D292V |
probably damaging |
Het |
Gcm1 |
A |
G |
9: 77,966,859 (GRCm39) |
N26S |
probably benign |
Het |
H2-M1 |
T |
A |
17: 36,982,137 (GRCm39) |
T155S |
probably benign |
Het |
Hapln3 |
T |
C |
7: 78,767,764 (GRCm39) |
D210G |
probably damaging |
Het |
Magel2 |
T |
C |
7: 62,030,762 (GRCm39) |
L1222P |
unknown |
Het |
Mphosph10 |
A |
T |
7: 64,039,832 (GRCm39) |
|
probably null |
Het |
Mup6 |
A |
T |
4: 60,003,579 (GRCm39) |
|
probably benign |
Het |
Nsmce1 |
T |
A |
7: 125,070,426 (GRCm39) |
E128D |
probably damaging |
Het |
Or4c11 |
T |
A |
2: 88,695,475 (GRCm39) |
Y175* |
probably null |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Sorbs2 |
T |
A |
8: 46,249,004 (GRCm39) |
S733T |
probably damaging |
Het |
Stxbp5 |
A |
T |
10: 9,692,013 (GRCm39) |
I377K |
probably damaging |
Het |
Tnfsf4 |
T |
A |
1: 161,223,274 (GRCm39) |
L41Q |
probably damaging |
Het |
Tut7 |
A |
C |
13: 59,969,669 (GRCm39) |
N75K |
probably damaging |
Het |
Usp28 |
G |
A |
9: 48,947,261 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Gpsm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01803:Gpsm1
|
APN |
2 |
26,236,921 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01826:Gpsm1
|
APN |
2 |
26,216,314 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02281:Gpsm1
|
APN |
2 |
26,229,638 (GRCm39) |
splice site |
probably benign |
|
IGL02730:Gpsm1
|
APN |
2 |
26,215,390 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02740:Gpsm1
|
APN |
2 |
26,230,585 (GRCm39) |
missense |
probably benign |
0.43 |
IGL02749:Gpsm1
|
APN |
2 |
26,229,687 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02982:Gpsm1
|
APN |
2 |
26,214,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R1639:Gpsm1
|
UTSW |
2 |
26,235,199 (GRCm39) |
missense |
probably damaging |
1.00 |
R1766:Gpsm1
|
UTSW |
2 |
26,215,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R1854:Gpsm1
|
UTSW |
2 |
26,234,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R2900:Gpsm1
|
UTSW |
2 |
26,235,174 (GRCm39) |
missense |
probably benign |
0.00 |
R2994:Gpsm1
|
UTSW |
2 |
26,209,843 (GRCm39) |
unclassified |
probably benign |
|
R2995:Gpsm1
|
UTSW |
2 |
26,209,843 (GRCm39) |
unclassified |
probably benign |
|
R2996:Gpsm1
|
UTSW |
2 |
26,209,843 (GRCm39) |
unclassified |
probably benign |
|
R4227:Gpsm1
|
UTSW |
2 |
26,229,638 (GRCm39) |
splice site |
probably benign |
|
R4391:Gpsm1
|
UTSW |
2 |
26,214,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R4413:Gpsm1
|
UTSW |
2 |
26,209,843 (GRCm39) |
unclassified |
probably benign |
|
R4461:Gpsm1
|
UTSW |
2 |
26,209,843 (GRCm39) |
unclassified |
probably benign |
|
R4469:Gpsm1
|
UTSW |
2 |
26,209,843 (GRCm39) |
unclassified |
probably benign |
|
R4659:Gpsm1
|
UTSW |
2 |
26,209,843 (GRCm39) |
unclassified |
probably benign |
|
R4786:Gpsm1
|
UTSW |
2 |
26,212,493 (GRCm39) |
missense |
probably benign |
0.01 |
R5025:Gpsm1
|
UTSW |
2 |
26,210,008 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5057:Gpsm1
|
UTSW |
2 |
26,215,369 (GRCm39) |
missense |
probably damaging |
0.96 |
R5171:Gpsm1
|
UTSW |
2 |
26,217,476 (GRCm39) |
intron |
probably benign |
|
R5356:Gpsm1
|
UTSW |
2 |
26,230,574 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5417:Gpsm1
|
UTSW |
2 |
26,214,045 (GRCm39) |
critical splice donor site |
probably null |
|
R5967:Gpsm1
|
UTSW |
2 |
26,230,546 (GRCm39) |
splice site |
probably null |
|
R6153:Gpsm1
|
UTSW |
2 |
26,215,425 (GRCm39) |
missense |
probably benign |
0.14 |
R6969:Gpsm1
|
UTSW |
2 |
26,230,555 (GRCm39) |
missense |
probably benign |
0.01 |
R7006:Gpsm1
|
UTSW |
2 |
26,212,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R7819:Gpsm1
|
UTSW |
2 |
26,229,705 (GRCm39) |
missense |
probably damaging |
0.98 |
R7867:Gpsm1
|
UTSW |
2 |
26,230,448 (GRCm39) |
missense |
probably benign |
0.38 |
R8194:Gpsm1
|
UTSW |
2 |
26,217,364 (GRCm39) |
frame shift |
probably null |
|
R8195:Gpsm1
|
UTSW |
2 |
26,214,929 (GRCm39) |
splice site |
probably null |
|
R8857:Gpsm1
|
UTSW |
2 |
26,230,457 (GRCm39) |
missense |
possibly damaging |
0.47 |
R9267:Gpsm1
|
UTSW |
2 |
26,236,835 (GRCm39) |
missense |
probably damaging |
1.00 |
R9281:Gpsm1
|
UTSW |
2 |
26,214,488 (GRCm39) |
missense |
probably damaging |
0.99 |
RF017:Gpsm1
|
UTSW |
2 |
26,214,884 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Gpsm1
|
UTSW |
2 |
26,217,357 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Predicted Primers |
PCR Primer
(F):5'- CATTCTGTTAGGGATGGCAGCACC -3'
(R):5'- ATGCAGCTTCAGGGACAAGTGTGG -3'
Sequencing Primer
(F):5'- ATGGCAGCACCTGGGAG -3'
(R):5'- ATGACAGAGGCCCTTTGC -3'
|
Posted On |
2014-01-29 |