Incidental Mutation 'R5718:Adgra2'
| ID |
451281 |
| 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 |
043338-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5718 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
27575611-27613464 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 27603514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033876]
[ENSMUST00000033876]
[ENSMUST00000178514]
[ENSMUST00000178514]
[ENSMUST00000179351]
|
| AlphaFold |
Q91ZV8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033876
|
| SMART Domains |
Protein: ENSMUSP00000033876
Gene: ENSMUSG00000031486
| 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 null
Transcript: ENSMUST00000033876
|
| SMART Domains |
Protein: ENSMUSP00000033876
Gene: ENSMUSG00000031486
| 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 null
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 null
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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
G |
T |
1: 179,596,904 (GRCm39) |
H81N |
possibly damaging |
Het |
| Alyref2 |
T |
C |
1: 171,331,678 (GRCm39) |
S152P |
possibly damaging |
Het |
| Arhgef7 |
C |
T |
8: 11,835,774 (GRCm39) |
T20I |
probably damaging |
Het |
| Armc3 |
T |
G |
2: 19,308,610 (GRCm39) |
Y759* |
probably null |
Het |
| Atg5 |
A |
G |
10: 44,238,983 (GRCm39) |
S255G |
probably benign |
Het |
| Atp11b |
A |
G |
3: 35,891,665 (GRCm39) |
I1026V |
probably benign |
Het |
| Atp1a2 |
C |
A |
1: 172,107,009 (GRCm39) |
K770N |
probably damaging |
Het |
| Bptf |
G |
T |
11: 107,002,260 (GRCm39) |
A284E |
probably damaging |
Het |
| Celsr2 |
A |
G |
3: 108,300,674 (GRCm39) |
S815P |
probably benign |
Het |
| Chrna5 |
A |
G |
9: 54,905,389 (GRCm39) |
H67R |
probably benign |
Het |
| Cic |
A |
G |
7: 24,972,203 (GRCm39) |
I645V |
probably benign |
Het |
| Clpx |
A |
T |
9: 65,207,246 (GRCm39) |
Q48L |
probably benign |
Het |
| Crhr2 |
G |
A |
6: 55,069,085 (GRCm39) |
Q397* |
probably null |
Het |
| Cyp11a1 |
G |
A |
9: 57,925,508 (GRCm39) |
V48I |
probably benign |
Het |
| Dchs1 |
C |
T |
7: 105,404,955 (GRCm39) |
R2529H |
probably benign |
Het |
| Dnah7c |
A |
T |
1: 46,787,826 (GRCm39) |
H3293L |
possibly damaging |
Het |
| Dock6 |
G |
T |
9: 21,735,789 (GRCm39) |
D986E |
probably benign |
Het |
| Efcab6 |
T |
A |
15: 83,788,439 (GRCm39) |
N952Y |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Epg5 |
G |
A |
18: 78,029,618 (GRCm39) |
C1327Y |
probably damaging |
Het |
| Fbxw18 |
T |
C |
9: 109,520,636 (GRCm39) |
E241G |
probably benign |
Het |
| Fsd1 |
T |
G |
17: 56,297,542 (GRCm39) |
|
probably benign |
Het |
| Gcnt3 |
A |
G |
9: 69,941,552 (GRCm39) |
S339P |
probably benign |
Het |
| Gldc |
T |
A |
19: 30,088,172 (GRCm39) |
K829* |
probably null |
Het |
| Gli3 |
G |
A |
13: 15,652,750 (GRCm39) |
|
probably null |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,566,351 (GRCm39) |
C2217* |
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,485,417 (GRCm39) |
I4395N |
probably damaging |
Het |
| Hmgxb3 |
A |
G |
18: 61,273,909 (GRCm39) |
M861T |
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,412,621 (GRCm39) |
S1545P |
possibly damaging |
Het |
| Jak3 |
C |
A |
8: 72,136,998 (GRCm39) |
L725M |
probably damaging |
Het |
| Lrig2 |
A |
T |
3: 104,375,931 (GRCm39) |
C90* |
probably null |
Het |
| Mcm7 |
C |
T |
5: 138,163,081 (GRCm39) |
R357H |
possibly damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,887,581 (GRCm39) |
S333P |
probably damaging |
Het |
| Mrpl22 |
A |
T |
11: 58,068,109 (GRCm39) |
I136L |
probably benign |
Het |
| Ncam2 |
A |
T |
16: 81,386,702 (GRCm39) |
|
probably null |
Het |
| Ncdn |
G |
A |
4: 126,643,743 (GRCm39) |
Q360* |
probably null |
Het |
| Nsun2 |
A |
G |
13: 69,771,403 (GRCm39) |
K338E |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,927,634 (GRCm39) |
T6105A |
probably damaging |
Het |
| Or2aj6 |
G |
A |
16: 19,443,139 (GRCm39) |
S237F |
probably benign |
Het |
| Or8g36 |
A |
T |
9: 39,422,338 (GRCm39) |
L226H |
probably damaging |
Het |
| Pcnx4 |
T |
A |
12: 72,613,968 (GRCm39) |
F638I |
possibly damaging |
Het |
| Pfn3 |
T |
C |
13: 55,562,853 (GRCm39) |
I43V |
probably benign |
Het |
| Pigm |
C |
A |
1: 172,205,012 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
T |
A |
15: 44,408,813 (GRCm39) |
S2433R |
probably damaging |
Het |
| Pomt1 |
C |
A |
2: 32,138,704 (GRCm39) |
A440D |
possibly damaging |
Het |
| Ptprj |
T |
C |
2: 90,288,613 (GRCm39) |
D691G |
probably benign |
Het |
| Qrich1 |
T |
A |
9: 108,406,022 (GRCm39) |
S72T |
probably damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,295,326 (GRCm39) |
|
probably null |
Het |
| Rarg |
A |
C |
15: 102,149,502 (GRCm39) |
S156A |
probably damaging |
Het |
| Rasl11a |
A |
G |
5: 146,783,954 (GRCm39) |
K133R |
probably benign |
Het |
| Rcor1 |
A |
G |
12: 111,068,069 (GRCm39) |
D158G |
probably benign |
Het |
| Rpn2 |
C |
T |
2: 157,163,747 (GRCm39) |
T613M |
probably damaging |
Het |
| Sipa1l2 |
T |
A |
8: 126,217,987 (GRCm39) |
H450L |
probably damaging |
Het |
| Slc25a21 |
T |
C |
12: 56,764,941 (GRCm39) |
I263V |
probably benign |
Het |
| Slc25a32 |
A |
T |
15: 38,960,957 (GRCm39) |
V242E |
probably benign |
Het |
| Slc5a5 |
T |
A |
8: 71,340,399 (GRCm39) |
T484S |
probably benign |
Het |
| Tdrd3 |
T |
C |
14: 87,743,876 (GRCm39) |
V608A |
probably benign |
Het |
| Thnsl1 |
C |
A |
2: 21,216,811 (GRCm39) |
H188Q |
possibly damaging |
Het |
| Tshz1 |
A |
T |
18: 84,032,649 (GRCm39) |
H586Q |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,169,103 (GRCm39) |
A676T |
possibly damaging |
Het |
| Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
| Xbp1 |
T |
A |
11: 5,471,903 (GRCm39) |
F10I |
probably benign |
Het |
| Zbtb1 |
G |
A |
12: 76,433,698 (GRCm39) |
M561I |
probably benign |
Het |
| Zfp708 |
T |
C |
13: 67,218,522 (GRCm39) |
K446E |
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 |
|
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 |
|
|
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'- ACCAGTCCTGTTTACAGTACCC -3'
(R):5'- TCAGTCCACAGTCCTTGCTG -3'
Sequencing Primer
(F):5'- AGTCCTGTTTACAGTACCCCTTCAC -3'
(R):5'- GTACCCACTCTTAATGCAC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation