Incidental Mutation 'R7006:Gpsm1'
ID |
544699 |
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 |
045011-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7006 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
26205527-26238249 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26212572 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 72
(L72P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000077686
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066889]
[ENSMUST00000066936]
[ENSMUST00000078616]
|
AlphaFold |
Q6IR34 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066889
AA Change: L104P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000067964 Gene: ENSMUSG00000026930 AA Change: L104P
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: L72P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065000 Gene: ENSMUSG00000026930 AA Change: L72P
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 damaging
Transcript: ENSMUST00000078616
AA Change: L72P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077686 Gene: ENSMUSG00000026930 AA Change: L72P
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: ENSMUST00000145884
|
SMART Domains |
Protein: ENSMUSP00000115680 Gene: ENSMUSG00000026930
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
A |
G |
4: 144,447,853 (GRCm39) |
V41A |
probably benign |
Het |
Adcy2 |
G |
A |
13: 69,036,139 (GRCm39) |
T174M |
probably damaging |
Het |
Ankfy1 |
T |
A |
11: 72,631,290 (GRCm39) |
I412N |
probably benign |
Het |
AW146154 |
T |
C |
7: 41,130,648 (GRCm39) |
E156G |
possibly damaging |
Het |
B4galnt1 |
T |
C |
10: 127,005,700 (GRCm39) |
L267P |
probably benign |
Het |
Bod1l |
T |
C |
5: 41,989,895 (GRCm39) |
E276G |
probably damaging |
Het |
Ccdc187 |
T |
C |
2: 26,171,102 (GRCm39) |
T459A |
probably benign |
Het |
Ccdc196 |
T |
A |
12: 78,255,702 (GRCm39) |
*177R |
probably null |
Het |
Cep72 |
G |
A |
13: 74,198,427 (GRCm39) |
Q311* |
probably null |
Het |
Cir1 |
T |
C |
2: 73,140,834 (GRCm39) |
Q45R |
probably damaging |
Het |
Ciz1 |
T |
C |
2: 32,261,127 (GRCm39) |
|
probably null |
Het |
Crtap |
G |
T |
9: 114,215,391 (GRCm39) |
A166E |
probably damaging |
Het |
Dipk1a |
A |
G |
5: 108,058,027 (GRCm39) |
V132A |
probably benign |
Het |
Dmp1 |
A |
G |
5: 104,360,188 (GRCm39) |
D288G |
probably benign |
Het |
Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
Fmnl2 |
C |
A |
2: 52,998,266 (GRCm39) |
Q544K |
probably benign |
Het |
Gys1 |
G |
A |
7: 45,089,437 (GRCm39) |
A199T |
probably damaging |
Het |
Kcnq3 |
A |
C |
15: 65,892,165 (GRCm39) |
Y403* |
probably null |
Het |
Kcp |
A |
C |
6: 29,499,169 (GRCm39) |
Y298D |
probably damaging |
Het |
Kif5c |
T |
C |
2: 49,625,526 (GRCm39) |
S599P |
probably damaging |
Het |
Krt20 |
A |
T |
11: 99,328,587 (GRCm39) |
Y113N |
probably benign |
Het |
Mcm8 |
T |
G |
2: 132,665,181 (GRCm39) |
V191G |
probably damaging |
Het |
Msr1 |
T |
A |
8: 40,042,423 (GRCm39) |
D384V |
probably damaging |
Het |
Mtpap |
A |
C |
18: 4,380,873 (GRCm39) |
S184R |
possibly damaging |
Het |
Npc1l1 |
G |
A |
11: 6,167,731 (GRCm39) |
T1020M |
probably benign |
Het |
Nphp4 |
A |
G |
4: 152,573,259 (GRCm39) |
T66A |
probably benign |
Het |
Or1o3 |
T |
A |
17: 37,573,625 (GRCm39) |
*310L |
probably null |
Het |
Or4f14 |
C |
A |
2: 111,742,601 (GRCm39) |
V225L |
probably benign |
Het |
Or8h10 |
G |
A |
2: 86,808,303 (GRCm39) |
T279I |
probably damaging |
Het |
Or8k18 |
T |
A |
2: 86,085,572 (GRCm39) |
Q155L |
probably benign |
Het |
Phf11d |
G |
T |
14: 59,590,823 (GRCm39) |
T178K |
probably benign |
Het |
Ppm1d |
A |
G |
11: 85,227,977 (GRCm39) |
K298E |
possibly damaging |
Het |
Rab2b |
A |
T |
14: 52,503,690 (GRCm39) |
I144K |
probably benign |
Het |
Stoml1 |
A |
G |
9: 58,167,523 (GRCm39) |
D5G |
probably damaging |
Het |
Styxl2 |
T |
C |
1: 165,926,663 (GRCm39) |
N983S |
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,626,188 (GRCm39) |
V515A |
probably damaging |
Het |
Tas1r3 |
A |
G |
4: 155,947,361 (GRCm39) |
V108A |
possibly damaging |
Het |
Tifab |
T |
C |
13: 56,324,059 (GRCm39) |
Y128C |
probably benign |
Het |
Tmc6 |
G |
T |
11: 117,665,083 (GRCm39) |
R397S |
probably damaging |
Het |
Tnpo3 |
C |
T |
6: 29,589,162 (GRCm39) |
A63T |
probably damaging |
Het |
Trgc4 |
T |
A |
13: 19,528,995 (GRCm39) |
|
probably benign |
Het |
Usp16 |
G |
T |
16: 87,268,724 (GRCm39) |
C284F |
probably damaging |
Het |
Wipf1 |
T |
C |
2: 73,267,441 (GRCm39) |
D319G |
probably damaging |
Het |
Xpnpep3 |
T |
A |
15: 81,326,649 (GRCm39) |
W347R |
probably damaging |
Het |
Zfp180 |
G |
T |
7: 23,804,537 (GRCm39) |
E319* |
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 |
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 |
|
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 |
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'- CTGAGGGACATCGTCTCATTGC -3'
(R):5'- TCTCCAGGCACAGATACACCTG -3'
Sequencing Primer
(F):5'- TTGCAACCATAGAGTGTGCC -3'
(R):5'- GGCACAGATACACCTGTTGCATC -3'
|
Posted On |
2019-05-13 |