Incidental Mutation 'IGL01632:Adgra2'
ID |
278754 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Adgra2
|
Ensembl Gene |
ENSMUSG00000031486 |
Gene Name |
adhesion G protein-coupled receptor A2 |
Synonyms |
Tem5, 8430414O08Rik, Gpr124, 9530074E10Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01632
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
27575611-27613464 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 27608761 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 540
(A540T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136277
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033876]
[ENSMUST00000033877]
[ENSMUST00000178514]
[ENSMUST00000179351]
|
AlphaFold |
Q91ZV8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033876
AA Change: A755T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000033876 Gene: ENSMUSG00000031486 AA Change: A755T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
LRR
|
82 |
106 |
1.06e2 |
SMART |
LRR_TYP
|
107 |
130 |
2.71e-2 |
SMART |
LRR_TYP
|
131 |
154 |
1.28e-3 |
SMART |
LRR
|
155 |
178 |
7.38e1 |
SMART |
LRRCT
|
190 |
240 |
4.63e-6 |
SMART |
IG
|
253 |
346 |
3.49e-3 |
SMART |
low complexity region
|
629 |
639 |
N/A |
INTRINSIC |
low complexity region
|
663 |
674 |
N/A |
INTRINSIC |
Pfam:GPS
|
709 |
750 |
1.1e-7 |
PFAM |
Pfam:7tm_2
|
770 |
990 |
5.3e-13 |
PFAM |
transmembrane domain
|
1016 |
1038 |
N/A |
INTRINSIC |
transmembrane domain
|
1045 |
1064 |
N/A |
INTRINSIC |
low complexity region
|
1075 |
1095 |
N/A |
INTRINSIC |
low complexity region
|
1110 |
1129 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000033877
|
SMART Domains |
Protein: ENSMUSP00000033877 Gene: ENSMUSG00000031487
Domain | Start | End | E-Value | Type |
Pfam:TF_Zn_Ribbon
|
6 |
42 |
5.7e-11 |
PFAM |
SCOP:d1aisb1
|
73 |
167 |
1e-12 |
SMART |
Blast:CYCLIN
|
74 |
158 |
2e-51 |
BLAST |
Blast:CYCLIN
|
171 |
275 |
6e-61 |
BLAST |
low complexity region
|
322 |
336 |
N/A |
INTRINSIC |
low complexity region
|
355 |
367 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178514
AA Change: A540T
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000136277 Gene: ENSMUSG00000031486 AA Change: A540T
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
LRR
|
82 |
106 |
4.4e-1 |
SMART |
LRR_TYP
|
107 |
130 |
1.1e-4 |
SMART |
LRR_TYP
|
131 |
154 |
5.3e-6 |
SMART |
LRR
|
155 |
178 |
3.1e-1 |
SMART |
LRRCT
|
190 |
240 |
2.2e-8 |
SMART |
IG
|
253 |
346 |
1.4e-5 |
SMART |
HormR
|
349 |
426 |
1.8e-4 |
SMART |
Pfam:7tm_2
|
554 |
775 |
3.2e-11 |
PFAM |
transmembrane domain
|
801 |
823 |
N/A |
INTRINSIC |
transmembrane domain
|
830 |
849 |
N/A |
INTRINSIC |
low complexity region
|
860 |
880 |
N/A |
INTRINSIC |
low complexity region
|
895 |
914 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179207
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179351
AA Change: A53T
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000137457 Gene: ENSMUSG00000031486 AA Change: A53T
Domain | Start | End | E-Value | Type |
Pfam:GPS
|
5 |
49 |
4.5e-11 |
PFAM |
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for null mutations display fetal or perinatal lethality with CNS hemorrhage and angiogenic arrest in the CNS. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
T |
A |
6: 85,604,928 (GRCm39) |
C1724S |
probably benign |
Het |
Anapc10 |
T |
C |
8: 80,439,795 (GRCm39) |
M1T |
probably null |
Het |
Antxrl |
A |
G |
14: 33,789,904 (GRCm39) |
N332S |
probably damaging |
Het |
Cdkl3 |
A |
G |
11: 51,895,899 (GRCm39) |
R49G |
probably damaging |
Het |
Chodl |
A |
G |
16: 78,741,452 (GRCm39) |
|
probably benign |
Het |
Clca3a1 |
G |
T |
3: 144,733,202 (GRCm39) |
A102D |
probably damaging |
Het |
Clip1 |
T |
C |
5: 123,755,559 (GRCm39) |
E1029G |
probably damaging |
Het |
Cpeb2 |
T |
A |
5: 43,394,765 (GRCm39) |
I581N |
probably benign |
Het |
Dmxl1 |
T |
C |
18: 49,996,092 (GRCm39) |
V406A |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 117,924,707 (GRCm39) |
R3960Q |
probably damaging |
Het |
Fstl5 |
A |
G |
3: 76,615,135 (GRCm39) |
D732G |
probably benign |
Het |
Fyb2 |
G |
T |
4: 104,853,008 (GRCm39) |
V499L |
probably benign |
Het |
Gm43191 |
A |
T |
3: 116,445,116 (GRCm39) |
H39Q |
probably damaging |
Het |
Hspg2 |
A |
G |
4: 137,242,084 (GRCm39) |
K606R |
probably damaging |
Het |
Klk1b27 |
C |
T |
7: 43,706,097 (GRCm39) |
|
probably benign |
Het |
Mdga2 |
T |
C |
12: 66,676,672 (GRCm39) |
|
probably benign |
Het |
Mup14 |
A |
T |
4: 61,259,383 (GRCm39) |
F56L |
probably benign |
Het |
Myh15 |
A |
G |
16: 48,881,874 (GRCm39) |
K39E |
probably benign |
Het |
Or1j10 |
A |
T |
2: 36,267,576 (GRCm39) |
N263Y |
probably benign |
Het |
Or5m12 |
A |
G |
2: 85,734,714 (GRCm39) |
I228T |
probably benign |
Het |
Ppp1r3a |
T |
A |
6: 14,754,810 (GRCm39) |
I146F |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,609,854 (GRCm39) |
I759T |
probably damaging |
Het |
Sfmbt1 |
T |
C |
14: 30,539,669 (GRCm39) |
I819T |
probably damaging |
Het |
Siglec1 |
A |
G |
2: 130,925,740 (GRCm39) |
V322A |
probably benign |
Het |
Spata3 |
T |
C |
1: 85,950,030 (GRCm39) |
V87A |
possibly damaging |
Het |
Tacstd2 |
A |
G |
6: 67,511,783 (GRCm39) |
V303A |
possibly damaging |
Het |
Taok3 |
T |
A |
5: 117,403,993 (GRCm39) |
F723I |
possibly damaging |
Het |
Tektl1 |
T |
C |
10: 78,584,536 (GRCm39) |
S329G |
probably benign |
Het |
Vmn1r210 |
A |
T |
13: 23,011,366 (GRCm39) |
*307R |
probably null |
Het |
Vmn2r70 |
T |
C |
7: 85,215,280 (GRCm39) |
I85V |
probably benign |
Het |
Zfp384 |
T |
C |
6: 125,001,724 (GRCm39) |
I123T |
probably damaging |
Het |
|
Other mutations in Adgra2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00910:Adgra2
|
APN |
8 |
27,576,011 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL01599:Adgra2
|
APN |
8 |
27,608,761 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL01627:Adgra2
|
APN |
8 |
27,608,761 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL01629:Adgra2
|
APN |
8 |
27,608,761 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL01968:Adgra2
|
APN |
8 |
27,611,263 (GRCm39) |
nonsense |
probably null |
|
IGL02551:Adgra2
|
APN |
8 |
27,609,250 (GRCm39) |
missense |
probably benign |
|
IGL02820:Adgra2
|
APN |
8 |
27,607,535 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT1430001:Adgra2
|
UTSW |
8 |
27,604,216 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0735:Adgra2
|
UTSW |
8 |
27,607,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R0799:Adgra2
|
UTSW |
8 |
27,602,523 (GRCm39) |
missense |
probably damaging |
1.00 |
R1183:Adgra2
|
UTSW |
8 |
27,604,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R1276:Adgra2
|
UTSW |
8 |
27,609,852 (GRCm39) |
missense |
probably damaging |
0.99 |
R1389:Adgra2
|
UTSW |
8 |
27,601,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R1514:Adgra2
|
UTSW |
8 |
27,611,306 (GRCm39) |
nonsense |
probably null |
|
R1601:Adgra2
|
UTSW |
8 |
27,600,046 (GRCm39) |
splice site |
probably null |
|
R1760:Adgra2
|
UTSW |
8 |
27,609,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R1957:Adgra2
|
UTSW |
8 |
27,601,196 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1977:Adgra2
|
UTSW |
8 |
27,605,789 (GRCm39) |
missense |
possibly damaging |
0.80 |
R2164:Adgra2
|
UTSW |
8 |
27,604,232 (GRCm39) |
nonsense |
probably null |
|
R2181:Adgra2
|
UTSW |
8 |
27,611,701 (GRCm39) |
missense |
probably damaging |
0.99 |
R4282:Adgra2
|
UTSW |
8 |
27,609,272 (GRCm39) |
missense |
possibly damaging |
0.54 |
R4724:Adgra2
|
UTSW |
8 |
27,588,850 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4749:Adgra2
|
UTSW |
8 |
27,604,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R4809:Adgra2
|
UTSW |
8 |
27,600,507 (GRCm39) |
nonsense |
probably null |
|
R5718:Adgra2
|
UTSW |
8 |
27,603,514 (GRCm39) |
critical splice donor site |
probably null |
|
R6025:Adgra2
|
UTSW |
8 |
27,604,491 (GRCm39) |
missense |
probably damaging |
0.99 |
R6078:Adgra2
|
UTSW |
8 |
27,604,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R6079:Adgra2
|
UTSW |
8 |
27,604,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R6138:Adgra2
|
UTSW |
8 |
27,604,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R6140:Adgra2
|
UTSW |
8 |
27,605,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R6232:Adgra2
|
UTSW |
8 |
27,609,193 (GRCm39) |
missense |
probably benign |
0.19 |
R6321:Adgra2
|
UTSW |
8 |
27,604,190 (GRCm39) |
missense |
probably benign |
0.02 |
R6385:Adgra2
|
UTSW |
8 |
27,608,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R6676:Adgra2
|
UTSW |
8 |
27,601,268 (GRCm39) |
missense |
possibly damaging |
0.50 |
R6724:Adgra2
|
UTSW |
8 |
27,604,210 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6862:Adgra2
|
UTSW |
8 |
27,603,465 (GRCm39) |
missense |
probably damaging |
0.98 |
R6862:Adgra2
|
UTSW |
8 |
27,603,464 (GRCm39) |
missense |
probably benign |
0.01 |
R7140:Adgra2
|
UTSW |
8 |
27,610,929 (GRCm39) |
critical splice donor site |
probably null |
|
R7242:Adgra2
|
UTSW |
8 |
27,612,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R7861:Adgra2
|
UTSW |
8 |
27,604,485 (GRCm39) |
missense |
probably damaging |
0.98 |
R7882:Adgra2
|
UTSW |
8 |
27,607,440 (GRCm39) |
missense |
probably benign |
0.15 |
R8069:Adgra2
|
UTSW |
8 |
27,609,251 (GRCm39) |
missense |
probably benign |
0.01 |
R8146:Adgra2
|
UTSW |
8 |
27,604,202 (GRCm39) |
missense |
probably damaging |
0.99 |
R9080:Adgra2
|
UTSW |
8 |
27,604,529 (GRCm39) |
missense |
probably benign |
0.02 |
R9103:Adgra2
|
UTSW |
8 |
27,603,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R9135:Adgra2
|
UTSW |
8 |
27,610,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R9425:Adgra2
|
UTSW |
8 |
27,576,094 (GRCm39) |
missense |
probably benign |
0.04 |
R9473:Adgra2
|
UTSW |
8 |
27,610,943 (GRCm39) |
missense |
probably damaging |
0.99 |
R9643:Adgra2
|
UTSW |
8 |
27,612,031 (GRCm39) |
missense |
possibly damaging |
0.48 |
R9648:Adgra2
|
UTSW |
8 |
27,609,172 (GRCm39) |
missense |
probably damaging |
1.00 |
X0050:Adgra2
|
UTSW |
8 |
27,603,446 (GRCm39) |
missense |
probably benign |
0.32 |
X0062:Adgra2
|
UTSW |
8 |
27,610,834 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Posted On |
2015-04-16 |