Incidental Mutation 'IGL03109:Adgrg1'
| ID |
419136 |
| 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 # |
IGL03109
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
95701379-95740845 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 95734304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093271]
[ENSMUST00000179619]
[ENSMUST00000211944]
[ENSMUST00000211984]
[ENSMUST00000212660]
[ENSMUST00000212581]
[ENSMUST00000212118]
[ENSMUST00000212799]
[ENSMUST00000212976]
[ENSMUST00000212956]
[ENSMUST00000212141]
[ENSMUST00000212531]
|
| AlphaFold |
Q8K209 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093271
|
| SMART Domains |
Protein: ENSMUSP00000090959
Gene: ENSMUSG00000031785
| 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 benign
Transcript: ENSMUST00000179619
|
| SMART Domains |
Protein: ENSMUSP00000137520
Gene: ENSMUSG00000031785
| 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: ENSMUST00000211806
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211911
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212660
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212581
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212118
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212799
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212976
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212956
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212141
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212531
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,473,628 (GRCm39) |
S96R |
probably benign |
Het |
| Abca6 |
T |
A |
11: 110,071,173 (GRCm39) |
H1506L |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,846,841 (GRCm39) |
T424A |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,886,329 (GRCm39) |
S552R |
possibly damaging |
Het |
| Bptf |
T |
C |
11: 106,952,527 (GRCm39) |
T2172A |
possibly damaging |
Het |
| Commd9 |
T |
C |
2: 101,727,515 (GRCm39) |
V103A |
probably benign |
Het |
| Ctnnal1 |
T |
A |
4: 56,839,045 (GRCm39) |
D216V |
probably damaging |
Het |
| Dcbld2 |
A |
G |
16: 58,276,765 (GRCm39) |
T519A |
probably benign |
Het |
| Dennd6b |
T |
C |
15: 89,069,188 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,841,950 (GRCm39) |
T1369A |
probably benign |
Het |
| Ect2 |
T |
C |
3: 27,199,121 (GRCm39) |
T222A |
possibly damaging |
Het |
| Eef2k |
G |
A |
7: 120,490,949 (GRCm39) |
G523E |
probably damaging |
Het |
| Ephb2 |
T |
G |
4: 136,498,855 (GRCm39) |
T75P |
probably damaging |
Het |
| Exo1 |
A |
T |
1: 175,727,126 (GRCm39) |
N479I |
probably damaging |
Het |
| Fign |
A |
G |
2: 63,811,006 (GRCm39) |
L88P |
possibly damaging |
Het |
| Golgb1 |
T |
A |
16: 36,735,973 (GRCm39) |
V1740E |
possibly damaging |
Het |
| Icos |
A |
G |
1: 61,036,856 (GRCm39) |
|
probably benign |
Het |
| Il6ra |
C |
A |
3: 89,784,165 (GRCm39) |
G369* |
probably null |
Het |
| Itpr1 |
A |
G |
6: 108,394,942 (GRCm39) |
D83G |
probably damaging |
Het |
| Kdm2a |
A |
G |
19: 4,379,135 (GRCm39) |
I560T |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,402,514 (GRCm39) |
R2219H |
probably benign |
Het |
| Mical3 |
A |
T |
6: 120,986,085 (GRCm39) |
C119S |
probably damaging |
Het |
| Mipol1 |
G |
A |
12: 57,411,010 (GRCm39) |
R267H |
probably benign |
Het |
| Myrip |
A |
T |
9: 120,282,790 (GRCm39) |
|
probably null |
Het |
| Nelfb |
G |
A |
2: 25,091,073 (GRCm39) |
L542F |
possibly damaging |
Het |
| Nlrp4b |
T |
C |
7: 10,448,873 (GRCm39) |
C359R |
probably damaging |
Het |
| Noxred1 |
T |
A |
12: 87,280,212 (GRCm39) |
H40L |
probably damaging |
Het |
| Nphp1 |
A |
T |
2: 127,610,089 (GRCm39) |
|
probably benign |
Het |
| Or14j8 |
C |
T |
17: 38,263,378 (GRCm39) |
C179Y |
probably damaging |
Het |
| Pank3 |
T |
A |
11: 35,668,501 (GRCm39) |
F163L |
probably benign |
Het |
| Pde10a |
T |
C |
17: 9,148,046 (GRCm39) |
|
probably null |
Het |
| Pigc |
G |
A |
1: 161,798,345 (GRCm39) |
R109Q |
possibly damaging |
Het |
| Rfc3 |
A |
G |
5: 151,566,559 (GRCm39) |
S297P |
probably benign |
Het |
| Serinc1 |
A |
T |
10: 57,399,165 (GRCm39) |
M246K |
probably benign |
Het |
| Slc5a8 |
C |
T |
10: 88,742,278 (GRCm39) |
|
probably benign |
Het |
| Tecrl |
A |
G |
5: 83,457,156 (GRCm39) |
|
probably benign |
Het |
| Tex14 |
A |
T |
11: 87,434,191 (GRCm39) |
E119V |
probably damaging |
Het |
| Tmem94 |
A |
G |
11: 115,683,224 (GRCm39) |
K669R |
probably damaging |
Het |
| Tnfrsf4 |
C |
A |
4: 156,099,868 (GRCm39) |
H130Q |
probably damaging |
Het |
| Trav18 |
G |
A |
14: 54,069,008 (GRCm39) |
A18T |
probably benign |
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 |
|
IGL01806:Adgrg1
|
APN |
8 |
95,739,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02229:Adgrg1
|
APN |
8 |
95,730,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation