Incidental Mutation 'R7242:Adgra2'
| ID |
563294 |
| 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 |
045349-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7242 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
27575611-27613464 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27612055 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1335
(T1335A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033876]
[ENSMUST00000033877]
[ENSMUST00000178514]
[ENSMUST00000179351]
[ENSMUST00000209770]
[ENSMUST00000210552]
[ENSMUST00000211151]
|
| AlphaFold |
Q91ZV8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033876
AA Change: T1335A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033876
Gene: ENSMUSG00000031486
AA Change: T1335A
| 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 benign
Transcript: ENSMUST00000178514
AA Change: T1120A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000136277
Gene: ENSMUSG00000031486
AA Change: T1120A
| 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: ENSMUST00000209770
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210552
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211151
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211236
|
| Meta Mutation Damage Score |
0.1694 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (73/73) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
A |
T |
5: 146,121,677 (GRCm39) |
I74N |
probably damaging |
Het |
| Abca6 |
A |
T |
11: 110,132,479 (GRCm39) |
V272D |
possibly damaging |
Het |
| Acot11 |
A |
T |
4: 106,619,690 (GRCm39) |
S163R |
probably benign |
Het |
| Adcy5 |
T |
C |
16: 34,977,205 (GRCm39) |
L246P |
probably damaging |
Het |
| Adgra1 |
A |
T |
7: 139,427,573 (GRCm39) |
|
probably null |
Het |
| Aoc1l2 |
A |
T |
6: 48,908,062 (GRCm39) |
Y354F |
probably damaging |
Het |
| Armt1 |
T |
C |
10: 4,403,475 (GRCm39) |
S187P |
probably damaging |
Het |
| Azin1 |
T |
C |
15: 38,501,749 (GRCm39) |
M1V |
probably null |
Het |
| B430305J03Rik |
C |
T |
3: 61,271,256 (GRCm39) |
C163Y |
unknown |
Het |
| Cables1 |
T |
C |
18: 11,973,064 (GRCm39) |
S68P |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,900,663 (GRCm39) |
F341L |
probably benign |
Het |
| Ccdc90b |
T |
A |
7: 92,221,776 (GRCm39) |
H118Q |
probably damaging |
Het |
| Ccn5 |
T |
C |
2: 163,670,772 (GRCm39) |
F93S |
probably benign |
Het |
| Celf1 |
T |
A |
2: 90,833,602 (GRCm39) |
C119* |
probably null |
Het |
| Cfap57 |
C |
T |
4: 118,450,293 (GRCm39) |
V610M |
possibly damaging |
Het |
| Chrm4 |
T |
A |
2: 91,757,595 (GRCm39) |
M1K |
probably null |
Het |
| Chrnd |
C |
T |
1: 87,125,201 (GRCm39) |
T418I |
probably damaging |
Het |
| Coch |
G |
T |
12: 51,640,344 (GRCm39) |
|
probably benign |
Het |
| Cop1 |
A |
G |
1: 159,112,118 (GRCm39) |
T345A |
probably benign |
Het |
| Cops6 |
A |
G |
5: 138,161,842 (GRCm39) |
T96A |
probably benign |
Het |
| Corin |
T |
C |
5: 72,462,398 (GRCm39) |
I945V |
probably benign |
Het |
| Cyp2c67 |
G |
T |
19: 39,605,783 (GRCm39) |
T371N |
probably benign |
Het |
| Dap |
T |
A |
15: 31,273,454 (GRCm39) |
*103R |
probably null |
Het |
| Defb35 |
T |
A |
8: 22,430,773 (GRCm39) |
V49E |
unknown |
Het |
| Dmtf1 |
T |
A |
5: 9,199,016 (GRCm39) |
D39V |
possibly damaging |
Het |
| Dmtn |
T |
C |
14: 70,855,460 (GRCm39) |
T10A |
probably damaging |
Het |
| Dnajc1 |
C |
T |
2: 18,298,783 (GRCm39) |
E264K |
probably benign |
Het |
| Dtx3l |
A |
T |
16: 35,753,771 (GRCm39) |
N278K |
possibly damaging |
Het |
| Fam161a |
T |
A |
11: 22,970,037 (GRCm39) |
S72T |
possibly damaging |
Het |
| Fnbp4 |
T |
A |
2: 90,576,140 (GRCm39) |
S114T |
unknown |
Het |
| Focad |
T |
G |
4: 88,228,143 (GRCm39) |
I784S |
unknown |
Het |
| Fzd8 |
A |
T |
18: 9,214,171 (GRCm39) |
T418S |
probably damaging |
Het |
| Gclc |
A |
G |
9: 77,692,653 (GRCm39) |
Y264C |
probably benign |
Het |
| Ggn |
G |
A |
7: 28,872,459 (GRCm39) |
C649Y |
possibly damaging |
Het |
| Gys1 |
A |
G |
7: 45,089,092 (GRCm39) |
|
probably null |
Het |
| Hsd3b1 |
T |
C |
3: 98,760,526 (GRCm39) |
Y155C |
probably damaging |
Het |
| Htatip2 |
A |
G |
7: 49,422,354 (GRCm39) |
K191E |
probably benign |
Het |
| Ik |
A |
T |
18: 36,881,275 (GRCm39) |
S79C |
probably null |
Het |
| Kin |
G |
A |
2: 10,096,604 (GRCm39) |
R151Q |
probably benign |
Het |
| Kpna2rt |
G |
A |
17: 90,217,563 (GRCm39) |
T61I |
probably benign |
Het |
| Mast4 |
A |
G |
13: 102,874,986 (GRCm39) |
S1461P |
probably damaging |
Het |
| Melk |
T |
A |
4: 44,360,885 (GRCm39) |
V555E |
probably damaging |
Het |
| Met |
G |
A |
6: 17,491,316 (GRCm39) |
C26Y |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,748,633 (GRCm39) |
F77L |
probably damaging |
Het |
| Mib1 |
T |
A |
18: 10,741,011 (GRCm39) |
D86E |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Or12e8 |
G |
A |
2: 87,188,426 (GRCm39) |
V213I |
probably benign |
Het |
| Or56b1b |
T |
G |
7: 108,164,919 (GRCm39) |
S28R |
probably benign |
Het |
| Or7a36 |
A |
T |
10: 78,820,331 (GRCm39) |
K236* |
probably null |
Het |
| Or8g21 |
A |
G |
9: 38,906,437 (GRCm39) |
I98T |
probably benign |
Het |
| Patj |
A |
T |
4: 98,480,170 (GRCm39) |
I1296L |
probably benign |
Het |
| Pcdh1 |
C |
T |
18: 38,336,270 (GRCm39) |
V122M |
probably benign |
Het |
| Pcdhac2 |
A |
T |
18: 37,277,946 (GRCm39) |
I309F |
possibly damaging |
Het |
| Phf8-ps |
A |
G |
17: 33,286,101 (GRCm39) |
Y234H |
probably damaging |
Het |
| Phtf1 |
A |
G |
3: 103,906,012 (GRCm39) |
S565G |
probably damaging |
Het |
| Plekha2 |
A |
C |
8: 25,578,411 (GRCm39) |
F30V |
probably damaging |
Het |
| Ptbp1 |
A |
G |
10: 79,692,222 (GRCm39) |
M20V |
unknown |
Het |
| Pth2r |
A |
G |
1: 65,427,779 (GRCm39) |
D484G |
probably benign |
Het |
| Rapgef2 |
G |
A |
3: 78,995,210 (GRCm39) |
Q665* |
probably null |
Het |
| Scamp1 |
G |
A |
13: 94,369,648 (GRCm39) |
T59I |
probably benign |
Het |
| Sema4a |
T |
A |
3: 88,357,416 (GRCm39) |
D230V |
probably damaging |
Het |
| Snw1 |
C |
T |
12: 87,515,415 (GRCm39) |
G45R |
possibly damaging |
Het |
| Sox30 |
T |
A |
11: 45,875,347 (GRCm39) |
|
probably null |
Het |
| Sspo |
T |
A |
6: 48,450,886 (GRCm39) |
I2665K |
probably benign |
Het |
| Stx5a |
T |
A |
19: 8,732,641 (GRCm39) |
W437R |
unknown |
Het |
| Tln1 |
A |
G |
4: 43,542,602 (GRCm39) |
V1402A |
probably benign |
Het |
| Tpm1 |
A |
G |
9: 66,935,383 (GRCm39) |
L244P |
probably benign |
Het |
| Try5 |
T |
A |
6: 41,290,388 (GRCm39) |
E32V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,552,073 (GRCm39) |
N31188S |
probably benign |
Het |
| Tulp1 |
T |
C |
17: 28,582,379 (GRCm39) |
|
probably null |
Het |
| Usp13 |
T |
G |
3: 32,919,892 (GRCm39) |
|
probably null |
Het |
| Vax2 |
A |
G |
6: 83,688,298 (GRCm39) |
E7G |
possibly damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,488,612 (GRCm39) |
Y139* |
probably null |
Het |
| Zfp423 |
T |
C |
8: 88,631,155 (GRCm39) |
D21G |
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 |
|
|
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 |
|
|
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'- AGTTTGCACAACAGCCCGTC -3'
(R):5'- ATAGTCCACAGTAGGGGCAAGC -3'
Sequencing Primer
(F):5'- TCTTCCACTCGAGGGTGAG -3'
(R):5'- CAGTAGGGGCAAGCATCTGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation