Incidental Mutation 'R1977:Adgra2'
| ID |
221859 |
| 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 |
039990-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1977 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
27575611-27613464 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27605789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 647
(V647D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033876]
[ENSMUST00000178514]
[ENSMUST00000179351]
|
| AlphaFold |
Q91ZV8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033876
AA Change: V647D
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000033876
Gene: ENSMUSG00000031486
AA Change: V647D
| 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: ENSMUST00000178514
|
| SMART Domains |
Protein: ENSMUSP00000136277
Gene: ENSMUSG00000031486
| 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 |
|
| Meta Mutation Damage Score |
0.4098 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
99% (66/67) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf3 |
G |
T |
8: 123,508,272 (GRCm39) |
C256F |
probably damaging |
Het |
| AI593442 |
A |
T |
9: 52,589,492 (GRCm39) |
S28R |
probably damaging |
Het |
| Akr1c21 |
G |
C |
13: 4,624,211 (GRCm39) |
G22R |
probably damaging |
Het |
| Ampd3 |
T |
C |
7: 110,402,369 (GRCm39) |
W458R |
probably damaging |
Het |
| Arhgap23 |
G |
T |
11: 97,342,273 (GRCm39) |
R185L |
possibly damaging |
Het |
| Arhgap45 |
A |
T |
10: 79,856,652 (GRCm39) |
I67F |
probably damaging |
Het |
| Asah1 |
A |
G |
8: 41,796,554 (GRCm39) |
|
probably null |
Het |
| Atl2 |
A |
G |
17: 80,160,019 (GRCm39) |
Y56H |
probably damaging |
Het |
| Carf |
A |
T |
1: 60,185,295 (GRCm39) |
I447F |
probably damaging |
Het |
| Crmp1 |
A |
G |
5: 37,433,627 (GRCm39) |
N162S |
probably damaging |
Het |
| Cyp2a5 |
A |
G |
7: 26,535,347 (GRCm39) |
E103G |
probably benign |
Het |
| Cyp2c40 |
T |
C |
19: 39,766,485 (GRCm39) |
D370G |
probably damaging |
Het |
| Dhrs2 |
T |
A |
14: 55,472,112 (GRCm39) |
M1K |
probably null |
Het |
| Dnah17 |
T |
C |
11: 118,003,417 (GRCm39) |
E810G |
possibly damaging |
Het |
| E2f5 |
T |
A |
3: 14,652,416 (GRCm39) |
I84N |
probably damaging |
Het |
| Eif2ak4 |
A |
T |
2: 118,292,238 (GRCm39) |
K1185* |
probably null |
Het |
| Eif4ebp1 |
T |
A |
8: 27,765,129 (GRCm39) |
M115K |
probably damaging |
Het |
| Evi5 |
A |
T |
5: 107,947,005 (GRCm39) |
L505* |
probably null |
Het |
| Fbxw25 |
T |
A |
9: 109,481,924 (GRCm39) |
Y254F |
possibly damaging |
Het |
| Gm7964 |
T |
A |
7: 83,406,560 (GRCm39) |
F439Y |
possibly damaging |
Het |
| Gps1 |
A |
G |
11: 120,676,652 (GRCm39) |
T124A |
probably damaging |
Het |
| Hopx |
T |
C |
5: 77,265,463 (GRCm39) |
|
probably benign |
Het |
| Hoxd3 |
A |
G |
2: 74,574,620 (GRCm39) |
S89G |
possibly damaging |
Het |
| Hrc |
A |
T |
7: 44,985,638 (GRCm39) |
D263V |
probably damaging |
Het |
| Hs6st3 |
T |
C |
14: 119,375,888 (GRCm39) |
I21T |
probably benign |
Het |
| Izumo4 |
A |
G |
10: 80,538,955 (GRCm39) |
Y106C |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 26,866,796 (GRCm39) |
|
probably null |
Het |
| Lcorl |
A |
C |
5: 45,932,762 (GRCm39) |
S123R |
probably null |
Het |
| Lgr4 |
A |
T |
2: 109,842,273 (GRCm39) |
I729F |
probably damaging |
Het |
| Lonp1 |
T |
C |
17: 56,922,068 (GRCm39) |
T771A |
possibly damaging |
Het |
| Matn3 |
T |
A |
12: 9,011,110 (GRCm39) |
|
probably benign |
Het |
| Mdc1 |
T |
A |
17: 36,161,822 (GRCm39) |
S912T |
probably benign |
Het |
| Mgam |
G |
A |
6: 40,641,814 (GRCm39) |
V556I |
probably benign |
Het |
| Myom2 |
A |
T |
8: 15,135,263 (GRCm39) |
I489F |
possibly damaging |
Het |
| Nfatc2 |
G |
A |
2: 168,346,379 (GRCm39) |
T905I |
possibly damaging |
Het |
| Nme6 |
G |
A |
9: 109,664,409 (GRCm39) |
R6Q |
probably damaging |
Het |
| Nr1h5 |
A |
G |
3: 102,855,133 (GRCm39) |
S323P |
probably damaging |
Het |
| Nr4a3 |
C |
A |
4: 48,056,539 (GRCm39) |
R364S |
probably damaging |
Het |
| Obox7 |
A |
T |
7: 14,398,323 (GRCm39) |
D79V |
probably damaging |
Het |
| Or1ab2 |
G |
A |
8: 72,863,698 (GRCm39) |
G96D |
probably benign |
Het |
| Or2a51 |
T |
A |
6: 43,178,914 (GRCm39) |
V112D |
possibly damaging |
Het |
| Or2l5 |
G |
A |
16: 19,333,586 (GRCm39) |
P267S |
probably damaging |
Het |
| Pan2 |
T |
C |
10: 128,156,282 (GRCm39) |
V1171A |
probably damaging |
Het |
| Parp8 |
T |
A |
13: 117,047,449 (GRCm39) |
I208F |
probably damaging |
Het |
| Pdgfc |
C |
T |
3: 81,116,552 (GRCm39) |
T302I |
probably damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,091,256 (GRCm39) |
I337V |
probably benign |
Het |
| Polk |
T |
C |
13: 96,625,736 (GRCm39) |
E436G |
probably damaging |
Het |
| Pramel7 |
A |
G |
2: 87,321,465 (GRCm39) |
V190A |
probably benign |
Het |
| Rplp2 |
T |
C |
7: 141,028,694 (GRCm39) |
|
probably benign |
Het |
| Sec23ip |
T |
A |
7: 128,367,997 (GRCm39) |
S670T |
probably damaging |
Het |
| Sgk2 |
A |
G |
2: 162,846,080 (GRCm39) |
N207S |
probably benign |
Het |
| Sh2d2a |
C |
T |
3: 87,759,123 (GRCm39) |
Q242* |
probably null |
Het |
| Sh3pxd2b |
A |
C |
11: 32,372,138 (GRCm39) |
N435T |
probably damaging |
Het |
| Slc36a4 |
T |
A |
9: 15,645,506 (GRCm39) |
V311D |
probably damaging |
Het |
| Stx17 |
G |
A |
4: 48,181,553 (GRCm39) |
V241M |
probably benign |
Het |
| Taok3 |
A |
T |
5: 117,403,989 (GRCm39) |
K721N |
probably damaging |
Het |
| Tbxas1 |
A |
G |
6: 38,925,575 (GRCm39) |
|
probably benign |
Het |
| Tmem87a |
G |
A |
2: 120,204,985 (GRCm39) |
A377V |
probably benign |
Het |
| Topaz1 |
C |
T |
9: 122,576,427 (GRCm39) |
T6M |
unknown |
Het |
| Tspan8 |
A |
G |
10: 115,680,035 (GRCm39) |
I217V |
probably benign |
Het |
| Vmn2r125 |
A |
G |
4: 156,707,162 (GRCm39) |
|
probably null |
Het |
| Vmn2r5 |
C |
T |
3: 64,411,642 (GRCm39) |
E309K |
probably damaging |
Het |
| Wdr59 |
A |
T |
8: 112,185,270 (GRCm39) |
C888S |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAGACCTCAAAGCCCAG -3'
(R):5'- GTCTGAGATGTAAAACCATGCC -3'
Sequencing Primer
(F):5'- AGACCTCAAAGCCCAGGGTTG -3'
(R):5'- CTGCTAACTGAACCATGGCAGTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation