Incidental Mutation 'R3776:Adgrg1'
| ID |
273593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrg1
|
| Ensembl Gene |
ENSMUSG00000031785 |
| Gene Name |
adhesion G protein-coupled receptor G1 |
| Synonyms |
Cyt28, Gpr56 |
| MMRRC Submission |
040874-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R3776 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
95701379-95740845 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 95736283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 479
(S479F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148644
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093271]
[ENSMUST00000179619]
[ENSMUST00000211984]
[ENSMUST00000212118]
[ENSMUST00000212660]
[ENSMUST00000212976]
[ENSMUST00000212141]
|
| AlphaFold |
Q8K209 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093271
AA Change: S479F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000090959
Gene: ENSMUSG00000031785
AA Change: S479F
| 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: S479F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000137520
Gene: ENSMUSG00000031785
AA Change: S479F
| 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: ENSMUST00000211984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212118
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212660
AA Change: S479F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212976
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212141
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer1 |
C |
T |
17: 57,262,111 (GRCm39) |
V264M |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,735,911 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
CTTTTT |
CTTTTTT |
10: 98,815,731 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
G |
A |
12: 100,913,438 (GRCm39) |
T529M |
probably damaging |
Het |
| Cdc27 |
T |
G |
11: 104,406,263 (GRCm39) |
E617D |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,880,962 (GRCm39) |
V367A |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,928,900 (GRCm39) |
Q1445* |
probably null |
Het |
| Crispld2 |
T |
C |
8: 120,756,005 (GRCm39) |
S325P |
probably damaging |
Het |
| Dll1 |
T |
C |
17: 15,588,786 (GRCm39) |
S630G |
probably benign |
Het |
| Ednra |
A |
G |
8: 78,401,724 (GRCm39) |
S189P |
probably damaging |
Het |
| Eif6 |
T |
A |
2: 155,668,296 (GRCm39) |
T20S |
possibly damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,915,618 (GRCm39) |
V555A |
possibly damaging |
Het |
| Gdpd5 |
G |
A |
7: 99,103,779 (GRCm39) |
R422Q |
probably benign |
Het |
| Glt1d1 |
T |
A |
5: 127,771,375 (GRCm39) |
F289I |
probably damaging |
Het |
| Gm5565 |
T |
A |
5: 146,095,419 (GRCm39) |
E192V |
probably benign |
Het |
| Gpc5 |
T |
C |
14: 115,607,472 (GRCm39) |
M358T |
probably benign |
Het |
| Helz2 |
G |
A |
2: 180,882,182 (GRCm39) |
R204* |
probably null |
Het |
| Hhex |
A |
T |
19: 37,425,718 (GRCm39) |
Q149L |
probably damaging |
Het |
| Kat2b |
A |
G |
17: 53,874,609 (GRCm39) |
|
probably null |
Het |
| Kif23 |
G |
A |
9: 61,832,274 (GRCm39) |
S623L |
probably benign |
Het |
| Klra2 |
A |
T |
6: 131,219,926 (GRCm39) |
L85H |
probably benign |
Het |
| Krt32 |
A |
G |
11: 99,978,947 (GRCm39) |
C36R |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,410,177 (GRCm39) |
G653S |
probably damaging |
Het |
| Mpp3 |
G |
T |
11: 101,914,193 (GRCm39) |
S134* |
probably null |
Het |
| Mttp |
T |
C |
3: 137,820,024 (GRCm39) |
|
probably null |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
| Nin |
G |
T |
12: 70,085,456 (GRCm39) |
Q1592K |
possibly damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,199,467 (GRCm39) |
E26G |
possibly damaging |
Het |
| Nup160 |
G |
T |
2: 90,552,420 (GRCm39) |
C1132F |
probably benign |
Het |
| Or4a15 |
A |
T |
2: 89,193,108 (GRCm39) |
S222T |
possibly damaging |
Het |
| Pdgfc |
A |
G |
3: 81,048,858 (GRCm39) |
T89A |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,214,992 (GRCm39) |
D1007G |
probably benign |
Het |
| Pgbd1 |
A |
G |
13: 21,612,543 (GRCm39) |
L98P |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,378,371 (GRCm39) |
|
probably null |
Het |
| Plod1 |
A |
G |
4: 148,015,734 (GRCm39) |
V105A |
possibly damaging |
Het |
| Polg2 |
G |
T |
11: 106,670,110 (GRCm39) |
F53L |
probably benign |
Het |
| Ptprc |
T |
G |
1: 137,992,511 (GRCm39) |
Q1205H |
probably damaging |
Het |
| Rab3gap2 |
T |
C |
1: 185,009,402 (GRCm39) |
L1086P |
probably damaging |
Het |
| Rnf19a |
T |
A |
15: 36,266,058 (GRCm39) |
N13I |
probably benign |
Het |
| Slc25a19 |
A |
G |
11: 115,506,285 (GRCm39) |
Y303H |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,955,966 (GRCm39) |
F1143L |
possibly damaging |
Het |
| Ubxn11 |
C |
T |
4: 133,835,605 (GRCm39) |
P4S |
probably damaging |
Het |
| Zg16 |
T |
A |
7: 126,649,704 (GRCm39) |
I86F |
probably 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 |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTCACGTTCTCCCTGTAGG -3'
(R):5'- GGAACTGCTTGATTCCCTAACGG -3'
Sequencing Primer
(F):5'- TCCCTGTAGGAGGAAGTCAC -3'
(R):5'- AGAACCTGCTGTCTGTGC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation