Incidental Mutation 'R6862:Adgra2'
| ID |
535699 |
| 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 |
045026-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6862 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
27575611-27613464 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27603465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 417
(C417S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033876]
[ENSMUST00000178514]
[ENSMUST00000179351]
|
| AlphaFold |
Q91ZV8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033876
AA Change: C417S
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000033876
Gene: ENSMUSG00000031486
AA Change: C417S
| 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 damaging
Transcript: ENSMUST00000178514
AA Change: C417S
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136277
Gene: ENSMUSG00000031486
AA Change: C417S
| 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 |
0.7361 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
98% (57/58) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
C |
T |
3: 137,891,949 (GRCm39) |
|
probably benign |
Het |
| Aff3 |
C |
A |
1: 38,445,578 (GRCm39) |
R307L |
possibly damaging |
Het |
| Arhgap17 |
T |
C |
7: 122,921,124 (GRCm39) |
D121G |
probably damaging |
Het |
| Ascc3 |
G |
T |
10: 50,725,742 (GRCm39) |
R2155I |
probably null |
Het |
| Ccdc115 |
C |
T |
1: 34,478,364 (GRCm39) |
S19N |
possibly damaging |
Het |
| Ccser2 |
T |
C |
14: 36,662,038 (GRCm39) |
N382S |
probably benign |
Het |
| Cct6b |
A |
T |
11: 82,610,785 (GRCm39) |
V500E |
probably damaging |
Het |
| Cenpo |
A |
T |
12: 4,266,539 (GRCm39) |
Y190N |
probably damaging |
Het |
| Cfh |
T |
A |
1: 140,030,100 (GRCm39) |
K924N |
probably damaging |
Het |
| Col4a1 |
A |
G |
8: 11,252,926 (GRCm39) |
|
probably benign |
Het |
| Coro1b |
T |
C |
19: 4,200,770 (GRCm39) |
V234A |
probably benign |
Het |
| Crot |
T |
C |
5: 9,039,641 (GRCm39) |
K69E |
probably damaging |
Het |
| Cyp2d11 |
A |
T |
15: 82,274,339 (GRCm39) |
H347Q |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,612,284 (GRCm39) |
K636* |
probably null |
Het |
| Fbn2 |
T |
A |
18: 58,257,393 (GRCm39) |
I325F |
probably benign |
Het |
| Fbxw4 |
T |
A |
19: 45,571,187 (GRCm39) |
R41S |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,653,066 (GRCm39) |
I1308F |
probably benign |
Het |
| Frem1 |
C |
A |
4: 82,930,251 (GRCm39) |
E232* |
probably null |
Het |
| Gabrg3 |
T |
C |
7: 56,423,059 (GRCm39) |
Q213R |
possibly damaging |
Het |
| Garin3 |
G |
A |
11: 46,298,418 (GRCm39) |
G574D |
possibly damaging |
Het |
| Gsdme |
A |
T |
6: 50,204,378 (GRCm39) |
V193E |
probably damaging |
Het |
| Hadha |
C |
A |
5: 30,352,977 (GRCm39) |
|
probably null |
Het |
| Hdgfl2 |
C |
A |
17: 56,406,211 (GRCm39) |
A533E |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,006,327 (GRCm39) |
F975S |
probably damaging |
Het |
| Htatip2 |
T |
A |
7: 49,420,666 (GRCm39) |
S171T |
probably benign |
Het |
| Ift57 |
A |
T |
16: 49,584,167 (GRCm39) |
I307F |
possibly damaging |
Het |
| Il22 |
A |
T |
10: 118,041,715 (GRCm39) |
R110W |
probably benign |
Het |
| Kcnk13 |
G |
T |
12: 100,027,948 (GRCm39) |
R341L |
probably damaging |
Het |
| Kif2b |
G |
A |
11: 91,466,741 (GRCm39) |
T514M |
probably damaging |
Het |
| Kmt2c |
A |
C |
5: 25,515,515 (GRCm39) |
I2776S |
probably damaging |
Het |
| Ly9 |
T |
C |
1: 171,428,723 (GRCm39) |
D189G |
probably benign |
Het |
| Mal2 |
T |
C |
15: 54,451,753 (GRCm39) |
V58A |
probably damaging |
Het |
| Mettl21e |
T |
A |
1: 44,245,526 (GRCm39) |
N240I |
probably benign |
Het |
| Msantd5f1 |
A |
G |
4: 73,605,621 (GRCm39) |
N344S |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Nacc1 |
G |
A |
8: 85,399,844 (GRCm39) |
R458C |
probably damaging |
Het |
| Ncapd3 |
T |
C |
9: 26,942,105 (GRCm39) |
C14R |
probably damaging |
Het |
| Obscn |
G |
T |
11: 58,886,279 (GRCm39) |
|
probably benign |
Het |
| Or13c3 |
A |
G |
4: 52,855,695 (GRCm39) |
F273L |
probably benign |
Het |
| Or1j4 |
A |
T |
2: 36,740,234 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or8d23 |
T |
A |
9: 38,841,772 (GRCm39) |
F102I |
possibly damaging |
Het |
| Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
| Pde4dip |
C |
A |
3: 97,674,340 (GRCm39) |
R192L |
possibly damaging |
Het |
| Pdlim4 |
C |
A |
11: 53,946,674 (GRCm39) |
E204D |
probably damaging |
Het |
| Phf3 |
T |
C |
1: 30,853,063 (GRCm39) |
Q1049R |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,985,103 (GRCm39) |
L1464P |
probably damaging |
Het |
| Psg25 |
C |
T |
7: 18,255,323 (GRCm39) |
V398I |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,522,086 (GRCm39) |
N622Y |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Tex36 |
A |
G |
7: 133,189,002 (GRCm39) |
L190P |
probably benign |
Het |
| Tk1 |
A |
G |
11: 117,707,320 (GRCm39) |
C156R |
probably damaging |
Het |
| Tmem144 |
T |
A |
3: 79,739,406 (GRCm39) |
M126L |
probably benign |
Het |
| Tmem208 |
G |
A |
8: 106,054,862 (GRCm39) |
|
probably null |
Het |
| Trappc13 |
T |
C |
13: 104,286,660 (GRCm39) |
Q199R |
probably damaging |
Het |
| Trim30b |
T |
A |
7: 104,012,960 (GRCm39) |
K156N |
probably damaging |
Het |
| Trps1 |
A |
G |
15: 50,695,001 (GRCm39) |
|
probably null |
Het |
| Washc4 |
T |
A |
10: 83,394,757 (GRCm39) |
F329Y |
possibly damaging |
Het |
| Zbed5 |
T |
G |
5: 129,932,026 (GRCm39) |
D658E |
probably benign |
Het |
| Zfyve28 |
T |
G |
5: 34,445,449 (GRCm39) |
K11N |
probably benign |
Het |
| Zp1 |
C |
T |
19: 10,893,877 (GRCm39) |
V443I |
possibly 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 |
27,603,464 (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'- CACTAAGCTCCAGTGGTCTG -3'
(R):5'- AGCTGTACCCACTCTTAATGC -3'
Sequencing Primer
(F):5'- TTGTCCCAAAGAGCCTTGG -3'
(R):5'- TCCCTTACGAGGCATCA -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation