Incidental Mutation 'R7140:Adgra2'
| ID |
553404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgra2
|
| Ensembl Gene |
ENSMUSG00000031486 |
| Gene Name |
adhesion G protein-coupled receptor A2 |
| Synonyms |
Tem5, 8430414O08Rik, Gpr124, 9530074E10Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7140 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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 27610929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137457
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033876]
[ENSMUST00000033877]
[ENSMUST00000178514]
[ENSMUST00000179351]
[ENSMUST00000210552]
[ENSMUST00000211151]
|
| AlphaFold |
Q91ZV8 |
| Predicted Effect |
silent
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 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 |
silent
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 null
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: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (70/71) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap2a2 |
G |
A |
7: 141,178,777 (GRCm39) |
A148T |
probably benign |
Het |
| Arhgef3 |
A |
T |
14: 27,123,664 (GRCm39) |
N442Y |
probably damaging |
Het |
| B3gat3 |
A |
G |
19: 8,903,216 (GRCm39) |
Y191C |
probably damaging |
Het |
| B430306N03Rik |
A |
T |
17: 48,629,483 (GRCm39) |
K203* |
probably null |
Het |
| C1qtnf6 |
T |
A |
15: 78,409,283 (GRCm39) |
Y188F |
probably benign |
Het |
| Capn10 |
T |
C |
1: 92,872,993 (GRCm39) |
V573A |
possibly damaging |
Het |
| Cbx4 |
T |
C |
11: 118,972,754 (GRCm39) |
Y207C |
probably damaging |
Het |
| Ccdc43 |
G |
T |
11: 102,579,695 (GRCm39) |
|
probably null |
Het |
| Ccng2 |
C |
A |
5: 93,416,614 (GRCm39) |
P45Q |
probably benign |
Het |
| Cd86 |
T |
C |
16: 36,441,263 (GRCm39) |
H68R |
probably benign |
Het |
| Cmtm4 |
A |
G |
8: 105,081,827 (GRCm39) |
Y187H |
probably damaging |
Het |
| Cst11 |
T |
C |
2: 148,610,649 (GRCm39) |
N134S |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,939,855 (GRCm39) |
F51I |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,342,973 (GRCm39) |
E1439G |
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,686,158 (GRCm39) |
V131A |
probably benign |
Het |
| Dpysl2 |
A |
G |
14: 67,099,982 (GRCm39) |
S85P |
probably benign |
Het |
| Dync1i2 |
A |
G |
2: 71,078,283 (GRCm39) |
H324R |
probably benign |
Het |
| Elf1 |
A |
G |
14: 79,804,710 (GRCm39) |
D162G |
probably benign |
Het |
| Eri3 |
G |
A |
4: 117,506,604 (GRCm39) |
|
probably null |
Het |
| Fbxl21 |
T |
C |
13: 56,680,145 (GRCm39) |
S203P |
probably damaging |
Het |
| Foxi1 |
G |
A |
11: 34,155,758 (GRCm39) |
R291C |
probably damaging |
Het |
| Gprin3 |
C |
T |
6: 59,332,128 (GRCm39) |
A60T |
possibly damaging |
Het |
| Hecw1 |
A |
G |
13: 14,491,118 (GRCm39) |
C212R |
probably benign |
Het |
| Hivep3 |
T |
C |
4: 119,954,318 (GRCm39) |
L878P |
probably damaging |
Het |
| Hs6st3 |
A |
T |
14: 119,376,514 (GRCm39) |
N230Y |
probably damaging |
Het |
| Htr3b |
A |
G |
9: 48,848,441 (GRCm39) |
V268A |
possibly damaging |
Het |
| Ip6k3 |
T |
C |
17: 27,363,969 (GRCm39) |
T360A |
probably damaging |
Het |
| Izumo1 |
A |
G |
7: 45,275,536 (GRCm39) |
T282A |
probably benign |
Het |
| Kidins220 |
T |
A |
12: 25,086,623 (GRCm39) |
I1019N |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,880,037 (GRCm39) |
V1043A |
probably benign |
Het |
| Mon2 |
C |
T |
10: 122,871,358 (GRCm39) |
V420I |
probably benign |
Het |
| Naip6 |
T |
A |
13: 100,436,708 (GRCm39) |
Y605F |
possibly damaging |
Het |
| Nek7 |
A |
G |
1: 138,414,793 (GRCm39) |
I285T |
probably benign |
Het |
| Notch3 |
A |
G |
17: 32,375,351 (GRCm39) |
V357A |
possibly damaging |
Het |
| Nrxn1 |
G |
A |
17: 91,396,192 (GRCm39) |
|
probably benign |
Het |
| Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
| Or2w4 |
C |
T |
13: 21,795,297 (GRCm39) |
V281M |
possibly damaging |
Het |
| Or4a67 |
G |
A |
2: 88,598,308 (GRCm39) |
A117V |
probably damaging |
Het |
| Or5g9 |
T |
A |
2: 85,551,818 (GRCm39) |
L23Q |
probably damaging |
Het |
| Or6c74 |
T |
G |
10: 129,870,083 (GRCm39) |
M196R |
possibly damaging |
Het |
| Ostm1 |
C |
T |
10: 42,559,268 (GRCm39) |
A176V |
probably null |
Het |
| Pabpc6 |
C |
A |
17: 9,887,357 (GRCm39) |
S398I |
possibly damaging |
Het |
| Pcdhac2 |
C |
A |
18: 37,277,239 (GRCm39) |
P73H |
possibly damaging |
Het |
| Pcdhga9 |
A |
G |
18: 37,872,184 (GRCm39) |
D671G |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pigu |
A |
C |
2: 155,143,160 (GRCm39) |
L248R |
possibly damaging |
Het |
| Pinx1 |
C |
A |
14: 64,097,834 (GRCm39) |
|
probably null |
Het |
| Pon3 |
T |
C |
6: 5,221,664 (GRCm39) |
N322S |
possibly damaging |
Het |
| Pramel23 |
T |
G |
4: 143,425,002 (GRCm39) |
H147P |
probably benign |
Het |
| Rnft1 |
A |
G |
11: 86,382,586 (GRCm39) |
I270V |
probably benign |
Het |
| Scgb2b11 |
A |
G |
7: 31,910,006 (GRCm39) |
F27L |
probably damaging |
Het |
| Slc5a4b |
C |
T |
10: 75,910,943 (GRCm39) |
V298I |
probably damaging |
Het |
| Slco1a6 |
T |
A |
6: 142,048,745 (GRCm39) |
H345L |
probably benign |
Het |
| Sox1 |
C |
T |
8: 12,447,405 (GRCm39) |
P349S |
possibly damaging |
Het |
| Spata31 |
A |
G |
13: 65,068,913 (GRCm39) |
N354D |
probably benign |
Het |
| Speg |
T |
C |
1: 75,383,414 (GRCm39) |
|
probably null |
Het |
| Stpg1 |
T |
C |
4: 135,261,033 (GRCm39) |
I281T |
probably benign |
Het |
| Sult3a1 |
T |
C |
10: 33,753,283 (GRCm39) |
L193P |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,745,271 (GRCm39) |
C1097S |
probably damaging |
Het |
| Tfap2a |
A |
G |
13: 40,883,523 (GRCm39) |
S7P |
probably benign |
Het |
| Tlr1 |
T |
C |
5: 65,083,021 (GRCm39) |
I519V |
probably benign |
Het |
| Tmem238 |
A |
G |
7: 4,792,072 (GRCm39) |
V157A |
possibly damaging |
Het |
| Tmem45b |
A |
T |
9: 31,345,780 (GRCm39) |
|
probably null |
Het |
| Togaram2 |
A |
T |
17: 72,021,761 (GRCm39) |
H742L |
probably benign |
Het |
| Trpc7 |
A |
T |
13: 56,937,487 (GRCm39) |
Y656* |
probably null |
Het |
| Wdr35 |
T |
A |
12: 9,072,785 (GRCm39) |
Y920N |
probably damaging |
Het |
| Xab2 |
G |
A |
8: 3,668,117 (GRCm39) |
R154C |
possibly damaging |
Het |
| Zfp759 |
A |
T |
13: 67,288,177 (GRCm39) |
H576L |
possibly damaging |
Het |
| Zfp958 |
G |
T |
8: 4,678,481 (GRCm39) |
A169S |
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 |
|
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'- TCATTAACCACCCAGCCTGTG -3'
(R):5'- AAATGCGTGGTCATCAGCG -3'
Sequencing Primer
(F):5'- AGGGCGCTCTCCAAACTC -3'
(R):5'- GTCATCAGCGCCCCCAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation