Incidental Mutation 'IGL01806:Adgrg1'
| ID |
155668 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adgrg1
|
| Ensembl Gene |
ENSMUSG00000031785 |
| Gene Name |
adhesion G protein-coupled receptor G1 |
| Synonyms |
Cyt28, Gpr56 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
IGL01806
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
95701379-95740845 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95739559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 670
(S670P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051259]
[ENSMUST00000093271]
[ENSMUST00000179619]
[ENSMUST00000212660]
|
| AlphaFold |
Q8K209 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051259
|
| SMART Domains |
Protein: ENSMUSP00000051079
Gene: ENSMUSG00000060470
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
GPS
|
209 |
256 |
3.45e-11 |
SMART |
|
Pfam:7tm_2
|
260 |
509 |
5.1e-33 |
PFAM |
|
low complexity region
|
520 |
531 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093271
AA Change: S670P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090959
Gene: ENSMUSG00000031785
AA Change: S670P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
GPS
|
342 |
394 |
1.42e-12 |
SMART |
|
Pfam:7tm_2
|
400 |
648 |
8.1e-32 |
PFAM |
|
low complexity region
|
678 |
685 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179619
AA Change: S670P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137520
Gene: ENSMUSG00000031785
AA Change: S670P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
GPS
|
342 |
394 |
1.42e-12 |
SMART |
|
Pfam:7tm_2
|
400 |
648 |
3.4e-31 |
PFAM |
|
low complexity region
|
678 |
685 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211911
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212660
AA Change: S670P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit neuronal ectopias in the frontoparietal cortex due to disruptions in the pial basement membrane. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5m1 |
T |
A |
14: 49,317,797 (GRCm39) |
F351L |
probably damaging |
Het |
| Cacnb2 |
A |
G |
2: 14,619,079 (GRCm39) |
Y38C |
probably damaging |
Het |
| Ccdc28a |
C |
T |
10: 18,095,262 (GRCm39) |
A151T |
possibly damaging |
Het |
| Cgnl1 |
T |
C |
9: 71,557,604 (GRCm39) |
E976G |
probably damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,525,264 (GRCm39) |
Y189C |
probably damaging |
Het |
| Dbt |
T |
C |
3: 116,326,954 (GRCm39) |
V101A |
probably damaging |
Het |
| Evc |
A |
G |
5: 37,477,578 (GRCm39) |
|
probably null |
Het |
| Fastkd5 |
A |
G |
2: 130,457,532 (GRCm39) |
Y353H |
probably benign |
Het |
| Gm6408 |
G |
A |
5: 146,418,892 (GRCm39) |
R30H |
probably damaging |
Het |
| Lhx8 |
A |
G |
3: 154,027,992 (GRCm39) |
S156P |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,300,686 (GRCm39) |
I1449M |
probably damaging |
Het |
| Mtrr |
A |
T |
13: 68,728,719 (GRCm39) |
V27E |
possibly damaging |
Het |
| Myh14 |
A |
G |
7: 44,307,363 (GRCm39) |
V226A |
probably benign |
Het |
| Nek1 |
T |
C |
8: 61,577,246 (GRCm39) |
S1076P |
possibly damaging |
Het |
| Or52z14 |
C |
T |
7: 103,253,548 (GRCm39) |
A229V |
probably benign |
Het |
| Or6ae1 |
G |
T |
7: 139,742,841 (GRCm39) |
N7K |
probably benign |
Het |
| Pcdhb7 |
A |
G |
18: 37,475,548 (GRCm39) |
D228G |
possibly damaging |
Het |
| Pias3 |
T |
C |
3: 96,611,073 (GRCm39) |
S414P |
probably benign |
Het |
| Plcd4 |
G |
A |
1: 74,591,192 (GRCm39) |
V196I |
probably benign |
Het |
| Proca1 |
A |
G |
11: 78,095,737 (GRCm39) |
D123G |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,254,915 (GRCm39) |
|
probably null |
Het |
| Ptprq |
C |
A |
10: 107,535,469 (GRCm39) |
R432L |
probably damaging |
Het |
| Rasgrp4 |
A |
G |
7: 28,838,475 (GRCm39) |
K108E |
possibly damaging |
Het |
| Siglecg |
A |
G |
7: 43,060,888 (GRCm39) |
|
probably null |
Het |
| Srpra |
A |
G |
9: 35,126,201 (GRCm39) |
T465A |
possibly damaging |
Het |
| Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
| Zeb1 |
G |
A |
18: 5,767,867 (GRCm39) |
V793M |
possibly damaging |
Het |
|
| Other mutations in Adgrg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00983:Adgrg1
|
APN |
8 |
95,731,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01138:Adgrg1
|
APN |
8 |
95,730,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02229:Adgrg1
|
APN |
8 |
95,730,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03109:Adgrg1
|
APN |
8 |
95,734,304 (GRCm39) |
unclassified |
probably benign |
|
|
D4043:Adgrg1
|
UTSW |
8 |
95,731,857 (GRCm39) |
splice site |
probably null |
|
|
R0383:Adgrg1
|
UTSW |
8 |
95,738,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1155:Adgrg1
|
UTSW |
8 |
95,733,468 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1656:Adgrg1
|
UTSW |
8 |
95,738,438 (GRCm39) |
nonsense |
probably null |
|
|
R1944:Adgrg1
|
UTSW |
8 |
95,733,928 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1952:Adgrg1
|
UTSW |
8 |
95,735,119 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2408:Adgrg1
|
UTSW |
8 |
95,730,121 (GRCm39) |
missense |
probably null |
1.00 |
|
R3776:Adgrg1
|
UTSW |
8 |
95,736,283 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3813:Adgrg1
|
UTSW |
8 |
95,738,193 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4254:Adgrg1
|
UTSW |
8 |
95,732,530 (GRCm39) |
splice site |
probably null |
|
|
R4255:Adgrg1
|
UTSW |
8 |
95,732,530 (GRCm39) |
splice site |
probably null |
|
|
R4951:Adgrg1
|
UTSW |
8 |
95,731,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4997:Adgrg1
|
UTSW |
8 |
95,736,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5152:Adgrg1
|
UTSW |
8 |
95,736,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6122:Adgrg1
|
UTSW |
8 |
95,729,129 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6897:Adgrg1
|
UTSW |
8 |
95,729,126 (GRCm39) |
missense |
probably benign |
|
|
R7446:Adgrg1
|
UTSW |
8 |
95,738,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7736:Adgrg1
|
UTSW |
8 |
95,731,965 (GRCm39) |
missense |
probably benign |
|
|
R7784:Adgrg1
|
UTSW |
8 |
95,739,510 (GRCm39) |
nonsense |
probably null |
|
|
R8187:Adgrg1
|
UTSW |
8 |
95,732,446 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8425:Adgrg1
|
UTSW |
8 |
95,735,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8474:Adgrg1
|
UTSW |
8 |
95,729,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8674:Adgrg1
|
UTSW |
8 |
95,727,526 (GRCm39) |
intron |
probably benign |
|
|
R8683:Adgrg1
|
UTSW |
8 |
95,736,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Adgrg1
|
UTSW |
8 |
95,734,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation