Incidental Mutation 'R9473:Adgra2'
| ID |
715572 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgra2
|
| Ensembl Gene |
ENSMUSG00000031486 |
| Gene Name |
adhesion G protein-coupled receptor A2 |
| Synonyms |
Tem5, 8430414O08Rik, Gpr124, 9530074E10Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9473 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
27575611-27613464 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27610943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 964
(L964Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033876]
[ENSMUST00000033877]
[ENSMUST00000178514]
[ENSMUST00000179351]
[ENSMUST00000210552]
[ENSMUST00000211151]
|
| AlphaFold |
Q91ZV8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033876
AA Change: L964Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000033876
Gene: ENSMUSG00000031486
AA Change: L964Q
| 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 |
probably damaging
Transcript: ENSMUST00000178514
AA Change: L749Q
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136277
Gene: ENSMUSG00000031486
AA Change: L749Q
| 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
|
| SMART Domains |
Protein: ENSMUSP00000137457
Gene: ENSMUSG00000031486
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GPS
|
5 |
49 |
4.5e-11 |
PFAM |
|
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210552
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211151
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211236
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.6%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
C |
T |
5: 144,980,912 (GRCm39) |
P107L |
probably benign |
Het |
| Abcc10 |
T |
C |
17: 46,617,609 (GRCm39) |
N1142S |
probably benign |
Het |
| Accsl |
T |
C |
2: 93,686,092 (GRCm39) |
H575R |
probably benign |
Het |
| Akap5 |
T |
C |
12: 76,376,632 (GRCm39) |
L688P |
probably damaging |
Het |
| Anapc10 |
A |
G |
8: 80,501,673 (GRCm39) |
N147S |
probably damaging |
Het |
| Atm |
C |
T |
9: 53,410,272 (GRCm39) |
E1059K |
probably benign |
Het |
| Bltp2 |
G |
A |
11: 78,174,983 (GRCm39) |
R1706H |
probably damaging |
Het |
| Bmf |
A |
C |
2: 118,363,104 (GRCm39) |
F251V |
probably benign |
Het |
| Capn3 |
G |
T |
2: 120,326,535 (GRCm39) |
E576* |
probably null |
Het |
| Capns2 |
T |
C |
8: 93,628,854 (GRCm39) |
*248R |
probably null |
Het |
| Ceacam13 |
G |
T |
7: 17,747,281 (GRCm39) |
V245L |
probably benign |
Het |
| Clcn3 |
T |
C |
8: 61,407,651 (GRCm39) |
D2G |
probably benign |
Het |
| Dcstamp |
G |
A |
15: 39,617,972 (GRCm39) |
C127Y |
probably damaging |
Het |
| Dnmt3l |
C |
T |
10: 77,886,022 (GRCm39) |
Q36* |
probably null |
Het |
| Dpys |
A |
G |
15: 39,687,583 (GRCm39) |
I405T |
possibly damaging |
Het |
| Duoxa1 |
A |
G |
2: 122,134,326 (GRCm39) |
I309T |
probably benign |
Het |
| Eif2b1 |
G |
A |
5: 124,712,677 (GRCm39) |
Q156* |
probably null |
Het |
| Eif3l |
T |
A |
15: 78,970,704 (GRCm39) |
M326K |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,790,243 (GRCm39) |
N267D |
possibly damaging |
Het |
| Fip1l1 |
C |
T |
5: 74,745,719 (GRCm39) |
T372I |
probably damaging |
Het |
| Galt |
A |
G |
4: 41,757,575 (GRCm39) |
N249S |
probably benign |
Het |
| Gm17324 |
G |
T |
9: 78,355,839 (GRCm39) |
R47S |
unknown |
Het |
| Gm45871 |
T |
G |
18: 90,609,093 (GRCm39) |
D110E |
probably benign |
Het |
| Gtf2ird1 |
T |
A |
5: 134,433,534 (GRCm39) |
T298S |
probably benign |
Het |
| Ighv7-4 |
T |
C |
12: 114,186,722 (GRCm39) |
I17V |
probably benign |
Het |
| Krt7 |
C |
T |
15: 101,318,409 (GRCm39) |
R299W |
probably damaging |
Het |
| Macc1 |
A |
G |
12: 119,297,990 (GRCm39) |
|
probably benign |
Het |
| Mturn |
G |
A |
6: 54,666,009 (GRCm39) |
E61K |
probably benign |
Het |
| Nol11 |
T |
C |
11: 107,075,581 (GRCm39) |
D149G |
probably null |
Het |
| Nr4a3 |
A |
T |
4: 48,052,143 (GRCm39) |
N299I |
probably damaging |
Het |
| Pip5k1b |
A |
T |
19: 24,335,590 (GRCm39) |
I351N |
probably damaging |
Het |
| Plce1 |
G |
A |
19: 38,766,337 (GRCm39) |
E2121K |
possibly damaging |
Het |
| Pramel11 |
T |
G |
4: 143,620,815 (GRCm39) |
T468P |
probably benign |
Het |
| Rdh19 |
A |
G |
10: 127,696,177 (GRCm39) |
T310A |
probably benign |
Het |
| Rflnb |
T |
A |
11: 75,913,064 (GRCm39) |
Y108F |
probably damaging |
Het |
| Rfx1 |
A |
T |
8: 84,819,903 (GRCm39) |
I713F |
probably damaging |
Het |
| Saxo5 |
G |
A |
8: 3,529,232 (GRCm39) |
C239Y |
probably benign |
Het |
| Scgn |
T |
C |
13: 24,143,731 (GRCm39) |
|
probably null |
Het |
| Serpina1d |
T |
C |
12: 103,729,939 (GRCm39) |
*414W |
probably null |
Het |
| Slc18a3 |
T |
C |
14: 32,185,913 (GRCm39) |
I157V |
probably benign |
Het |
| Steap1 |
T |
C |
5: 5,790,378 (GRCm39) |
Y190C |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,064,243 (GRCm39) |
S3247P |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,198,258 (GRCm39) |
I3778V |
probably benign |
Het |
| Tas2r114 |
T |
C |
6: 131,666,104 (GRCm39) |
D308G |
probably benign |
Het |
| Tpm2 |
A |
T |
4: 43,514,813 (GRCm39) |
L274* |
probably null |
Het |
| Ttc39b |
A |
G |
4: 83,181,977 (GRCm39) |
F81L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,547,338 (GRCm39) |
V32236A |
probably damaging |
Het |
| Ubr5 |
A |
G |
15: 38,002,617 (GRCm39) |
V1472A |
|
Het |
| Ugt2b1 |
A |
T |
5: 87,065,539 (GRCm39) |
V500D |
possibly damaging |
Het |
| Vpreb1b |
G |
A |
16: 17,798,565 (GRCm39) |
C17Y |
probably benign |
Het |
| Wscd1 |
A |
G |
11: 71,679,644 (GRCm39) |
N506D |
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 |
|
IGL01632: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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTAACCACCCAGCCTGTG -3'
(R):5'- AAATGCGTGGTCATCAGCG -3'
Sequencing Primer
(F):5'- AGGGCGCTCTCCAAACTC -3'
(R):5'- GTCATCAGCGCCCCCAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation