Incidental Mutation 'R5356:Gpsm1'
| ID |
424075 |
| 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 |
042935-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5356 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
26205527-26238249 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26230574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 508
(V508A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067964
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066889]
[ENSMUST00000066936]
[ENSMUST00000078616]
[ENSMUST00000114134]
[ENSMUST00000127453]
|
| AlphaFold |
Q6IR34 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066889
AA Change: V508A
PolyPhen 2
Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000067964
Gene: ENSMUSG00000026930
AA Change: V508A
| 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 |
possibly damaging
Transcript: ENSMUST00000066936
AA Change: V476A
PolyPhen 2
Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000065000
Gene: ENSMUSG00000026930
AA Change: V476A
| 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 |
probably benign
Transcript: ENSMUST00000078616
|
| SMART Domains |
Protein: ENSMUSP00000077686
Gene: ENSMUSG00000026930
| 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 benign
Transcript: ENSMUST00000114134
|
| SMART Domains |
Protein: ENSMUSP00000109769
Gene: ENSMUSG00000026930
| 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 |
probably benign
Transcript: ENSMUST00000127453
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132276
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000145884
AA Change: V299A
|
| SMART Domains |
Protein: ENSMUSP00000115680
Gene: ENSMUSG00000026930
AA Change: V299A
| 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: ENSMUST00000152895
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153064
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147873
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142057
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
C |
T |
3: 37,119,405 (GRCm39) |
T162I |
probably damaging |
Het |
| Adam22 |
C |
A |
5: 8,140,182 (GRCm39) |
G202W |
probably damaging |
Het |
| Amn1 |
T |
C |
6: 149,068,392 (GRCm39) |
I205M |
possibly damaging |
Het |
| Ankrd50 |
A |
C |
3: 38,510,334 (GRCm39) |
S678A |
probably damaging |
Het |
| Atg13 |
G |
A |
2: 91,522,811 (GRCm39) |
R78* |
probably null |
Het |
| Bmper |
T |
G |
9: 23,285,157 (GRCm39) |
F235L |
probably benign |
Het |
| Btn2a2 |
C |
T |
13: 23,667,045 (GRCm39) |
V187I |
probably benign |
Het |
| Cabs1 |
G |
A |
5: 88,127,492 (GRCm39) |
V48I |
probably benign |
Het |
| Cacnb3 |
A |
G |
15: 98,539,498 (GRCm39) |
I212V |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Cep162 |
T |
C |
9: 87,088,948 (GRCm39) |
E978G |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,199,993 (GRCm39) |
L3445Q |
probably damaging |
Het |
| Cntrl |
T |
A |
2: 35,038,911 (GRCm39) |
L1067* |
probably null |
Het |
| Cyp20a1 |
G |
A |
1: 60,418,546 (GRCm39) |
V329I |
probably benign |
Het |
| Cyp2d11 |
A |
T |
15: 82,274,712 (GRCm39) |
N288K |
probably benign |
Het |
| D430041D05Rik |
T |
G |
2: 104,085,754 (GRCm39) |
T932P |
probably damaging |
Het |
| Dlk1 |
T |
A |
12: 109,421,447 (GRCm39) |
C54S |
probably damaging |
Het |
| Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
| Entpd6 |
T |
A |
2: 150,612,303 (GRCm39) |
F416L |
probably damaging |
Het |
| Evx1 |
A |
G |
6: 52,293,602 (GRCm39) |
T257A |
probably benign |
Het |
| Fpr-rs3 |
A |
T |
17: 20,844,596 (GRCm39) |
S182T |
probably damaging |
Het |
| Glra3 |
A |
T |
8: 56,393,936 (GRCm39) |
I16F |
probably benign |
Het |
| Gm11437 |
C |
A |
11: 84,043,513 (GRCm39) |
L259F |
possibly damaging |
Het |
| Gorasp1 |
A |
T |
9: 119,757,024 (GRCm39) |
L386Q |
probably damaging |
Het |
| Gstm1 |
T |
A |
3: 107,920,052 (GRCm39) |
I180F |
probably benign |
Het |
| Hc |
T |
C |
2: 34,885,007 (GRCm39) |
D1400G |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,295,052 (GRCm39) |
V3422A |
possibly damaging |
Het |
| Map3k4 |
A |
G |
17: 12,466,195 (GRCm39) |
V1128A |
possibly damaging |
Het |
| Mboat2 |
G |
C |
12: 25,007,572 (GRCm39) |
V363L |
probably benign |
Het |
| Mgat3 |
A |
G |
15: 80,096,655 (GRCm39) |
N494S |
probably damaging |
Het |
| Mgat3 |
A |
G |
15: 80,095,811 (GRCm39) |
I213V |
possibly damaging |
Het |
| Mtf2 |
A |
T |
5: 108,254,476 (GRCm39) |
T426S |
possibly damaging |
Het |
| Muc3a |
T |
C |
5: 137,245,021 (GRCm39) |
I151V |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,191,219 (GRCm39) |
E874G |
probably damaging |
Het |
| Myo15a |
G |
A |
11: 60,389,192 (GRCm39) |
G2030R |
probably damaging |
Het |
| Ncdn |
T |
C |
4: 126,641,021 (GRCm39) |
Y493C |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,263,112 (GRCm39) |
F441L |
probably damaging |
Het |
| Ndc80 |
A |
T |
17: 71,828,103 (GRCm39) |
S75T |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,364,282 (GRCm39) |
F1571L |
possibly damaging |
Het |
| Nherf2 |
A |
G |
17: 24,860,945 (GRCm39) |
V88A |
probably damaging |
Het |
| Nme8 |
A |
G |
13: 19,836,469 (GRCm39) |
F236L |
probably damaging |
Het |
| Nsmce4a |
C |
A |
7: 130,138,778 (GRCm39) |
V289L |
probably damaging |
Het |
| Ntrk2 |
A |
T |
13: 59,208,056 (GRCm39) |
D634V |
probably damaging |
Het |
| Pcsk6 |
G |
C |
7: 65,620,340 (GRCm39) |
E479Q |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,812,551 (GRCm39) |
Q3828R |
probably damaging |
Het |
| Ptov1 |
T |
A |
7: 44,514,089 (GRCm39) |
T295S |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,083,535 (GRCm39) |
M824T |
probably benign |
Het |
| Rbm6 |
T |
A |
9: 107,729,865 (GRCm39) |
H129L |
probably damaging |
Het |
| Rbm8a2 |
A |
G |
1: 175,806,255 (GRCm39) |
I74T |
possibly damaging |
Het |
| Ret |
A |
G |
6: 118,174,079 (GRCm39) |
S6P |
possibly damaging |
Het |
| Rspo3 |
A |
T |
10: 29,376,064 (GRCm39) |
C70* |
probably null |
Het |
| Sike1 |
C |
A |
3: 102,909,106 (GRCm39) |
A202D |
possibly damaging |
Het |
| Slco4c1 |
G |
T |
1: 96,759,835 (GRCm39) |
P499H |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,794,356 (GRCm39) |
|
probably benign |
Het |
| Tmem135 |
A |
G |
7: 88,954,723 (GRCm39) |
V98A |
probably benign |
Het |
| Tor4a |
T |
A |
2: 25,085,918 (GRCm39) |
|
probably null |
Het |
| Txlna |
A |
G |
4: 129,524,166 (GRCm39) |
F397S |
probably damaging |
Het |
| Tyk2 |
A |
G |
9: 21,027,040 (GRCm39) |
I581T |
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,115,158 (GRCm39) |
D164N |
probably benign |
Het |
| Vwa3b |
T |
C |
1: 37,153,664 (GRCm39) |
I502T |
probably damaging |
Het |
| Xrcc6 |
A |
G |
15: 81,913,419 (GRCm39) |
T6A |
probably benign |
Het |
| Zfp524 |
T |
C |
7: 5,021,432 (GRCm39) |
V320A |
probably benign |
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 |
|
R1271:Gpsm1
|
UTSW |
2 |
26,234,684 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
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'- TGAGCTAGCCCATGTCCAAC -3'
(R):5'- TATGAGCTCTGTGCCCTCAG -3'
Sequencing Primer
(F):5'- TAGCCCATGTCCAACCTGCC -3'
(R):5'- CTCAGAGTACCTGGATGCAC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation