Incidental Mutation 'R8474:Adgrg1'
| ID |
657170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrg1
|
| Ensembl Gene |
ENSMUSG00000031785 |
| Gene Name |
adhesion G protein-coupled receptor G1 |
| Synonyms |
Cyt28, Gpr56 |
| MMRRC Submission |
067918-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R8474 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
95701379-95740845 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 95729936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 46
(T46S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093271]
[ENSMUST00000179619]
[ENSMUST00000211944]
[ENSMUST00000211984]
[ENSMUST00000212118]
[ENSMUST00000212141]
[ENSMUST00000212531]
[ENSMUST00000212581]
[ENSMUST00000212660]
[ENSMUST00000212799]
[ENSMUST00000212956]
[ENSMUST00000212976]
[ENSMUST00000212995]
|
| AlphaFold |
Q8K209 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093271
AA Change: T41S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090959
Gene: ENSMUSG00000031785
AA Change: T41S
| 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: T41S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137520
Gene: ENSMUSG00000031785
AA Change: T41S
| 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 |
probably benign
Transcript: ENSMUST00000211944
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211984
AA Change: T41S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212118
AA Change: T41S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212141
AA Change: T41S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212531
AA Change: T41S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212581
AA Change: T41S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212660
AA Change: T41S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212799
AA Change: T41S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212956
AA Change: T41S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212976
AA Change: T46S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212995
|
| 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.] 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
T |
15: 64,576,638 (GRCm39) |
S975T |
probably damaging |
Het |
| Akip1 |
T |
A |
7: 109,306,697 (GRCm39) |
D131E |
probably benign |
Het |
| Arhgef39 |
A |
G |
4: 43,498,015 (GRCm39) |
V163A |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,301,433 (GRCm39) |
|
probably null |
Het |
| Bcam |
A |
T |
7: 19,494,325 (GRCm39) |
L357* |
probably null |
Het |
| Bcat2 |
A |
G |
7: 45,237,075 (GRCm39) |
N194S |
probably damaging |
Het |
| Bcl2l14 |
T |
C |
6: 134,400,720 (GRCm39) |
L47P |
probably benign |
Het |
| Cbln1 |
C |
T |
8: 88,198,673 (GRCm39) |
A66T |
possibly damaging |
Het |
| Ccdc191 |
G |
T |
16: 43,710,262 (GRCm39) |
|
probably benign |
Het |
| Cd70 |
C |
T |
17: 57,456,468 (GRCm39) |
S45N |
possibly damaging |
Het |
| Cfap43 |
G |
A |
19: 47,886,363 (GRCm39) |
A84V |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,710,792 (GRCm39) |
N804Y |
possibly damaging |
Het |
| Cmah |
A |
T |
13: 24,601,350 (GRCm39) |
N52I |
probably damaging |
Het |
| Crot |
A |
G |
5: 9,043,518 (GRCm39) |
Y35H |
probably damaging |
Het |
| Cyp3a59 |
C |
A |
5: 146,041,487 (GRCm39) |
P344T |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,247,978 (GRCm39) |
E705G |
probably benign |
Het |
| Dnm2 |
A |
G |
9: 21,377,016 (GRCm39) |
Y125C |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,208,266 (GRCm39) |
Y739C |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,767,929 (GRCm39) |
M203K |
possibly damaging |
Het |
| Enpep |
C |
T |
3: 129,113,076 (GRCm39) |
V283M |
probably damaging |
Het |
| Ephx3 |
A |
G |
17: 32,407,219 (GRCm39) |
S240P |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,260,784 (GRCm39) |
H1011R |
possibly damaging |
Het |
| Fig4 |
A |
T |
10: 41,108,170 (GRCm39) |
F677I |
probably benign |
Het |
| Gramd1b |
A |
G |
9: 40,287,207 (GRCm39) |
|
probably null |
Het |
| Gse1 |
C |
T |
8: 121,295,123 (GRCm39) |
|
probably benign |
Het |
| Hoxa9 |
A |
G |
6: 52,202,506 (GRCm39) |
|
probably null |
Het |
| Ice1 |
A |
T |
13: 70,752,566 (GRCm39) |
S1173R |
probably benign |
Het |
| Ifi207 |
G |
A |
1: 173,556,605 (GRCm39) |
T718I |
possibly damaging |
Het |
| Ifit1bl1 |
A |
G |
19: 34,572,262 (GRCm39) |
L65P |
probably damaging |
Het |
| Impact |
T |
C |
18: 13,107,798 (GRCm39) |
I22T |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,375,572 (GRCm39) |
C4409R |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,651,783 (GRCm39) |
W131R |
probably damaging |
Het |
| Mindy3 |
T |
C |
2: 12,404,839 (GRCm39) |
T190A |
probably damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,338,563 (GRCm39) |
D721G |
probably benign |
Het |
| Myo1d |
A |
G |
11: 80,561,745 (GRCm39) |
V466A |
possibly damaging |
Het |
| Myo5b |
A |
C |
18: 74,903,411 (GRCm39) |
D1809A |
probably damaging |
Het |
| Nudcd2 |
C |
T |
11: 40,624,850 (GRCm39) |
Q20* |
probably null |
Het |
| Or4f62 |
T |
C |
2: 111,986,320 (GRCm39) |
M8T |
probably benign |
Het |
| Or5b101 |
A |
G |
19: 13,005,357 (GRCm39) |
L112P |
probably damaging |
Het |
| Or8g2b |
T |
A |
9: 39,751,048 (GRCm39) |
L106H |
possibly damaging |
Het |
| Pcif1 |
A |
T |
2: 164,730,272 (GRCm39) |
D335V |
probably damaging |
Het |
| Pebp4 |
T |
A |
14: 70,085,136 (GRCm39) |
C65S |
possibly damaging |
Het |
| Ptger1 |
C |
T |
8: 84,395,267 (GRCm39) |
A248V |
probably benign |
Het |
| Qki |
A |
T |
17: 10,537,747 (GRCm39) |
M19K |
probably benign |
Het |
| Ralgapa2 |
C |
G |
2: 146,266,750 (GRCm39) |
A609P |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,745,150 (GRCm39) |
G875D |
probably damaging |
Het |
| Runx2 |
A |
G |
17: 44,919,147 (GRCm39) |
V375A |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,836,730 (GRCm39) |
F841I |
probably damaging |
Het |
| Slc5a8 |
A |
G |
10: 88,757,552 (GRCm39) |
D514G |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,934,586 (GRCm39) |
T623S |
probably benign |
Het |
| Sppl2c |
A |
G |
11: 104,078,963 (GRCm39) |
S588G |
probably benign |
Het |
| Stxbp6 |
A |
C |
12: 44,949,704 (GRCm39) |
V75G |
possibly damaging |
Het |
| Tmc3 |
G |
A |
7: 83,259,122 (GRCm39) |
R531Q |
probably damaging |
Het |
| Tmem258 |
T |
C |
19: 10,184,550 (GRCm39) |
Y41H |
probably damaging |
Het |
| Tsks |
A |
T |
7: 44,600,263 (GRCm39) |
T91S |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,681,599 (GRCm39) |
V169A |
probably benign |
Het |
| Wdr54 |
T |
C |
6: 83,129,985 (GRCm39) |
N282S |
probably benign |
Het |
| Yme1l1 |
T |
A |
2: 23,052,584 (GRCm39) |
N79K |
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 |
|
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 |
|
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'- CCAGTAAGGTCTAGCAAGATAGATAC -3'
(R):5'- TCTGGAGGCTTGGCTACTAAG -3'
Sequencing Primer
(F):5'- GACTGATAGATACATTGTTGTAGACC -3'
(R):5'- CAGGTAGTCATGCTTGCCATAGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation