Incidental Mutation 'R1514:Adgra2'
| ID |
168620 |
| 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 |
039561-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1514 (G1)
|
| Quality Score |
189 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
27085583-27123436 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 27121278 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 870
(S870*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033876]
[ENSMUST00000033877]
[ENSMUST00000178514]
[ENSMUST00000179351]
[ENSMUST00000209770]
[ENSMUST00000210552]
[ENSMUST00000211151]
|
| AlphaFold |
Q91ZV8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033876
AA Change: S1085*
|
| SMART Domains |
Protein: ENSMUSP00000033876
Gene: ENSMUSG00000031486
AA Change: S1085*
| 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 null
Transcript: ENSMUST00000178514
AA Change: S870*
|
| SMART Domains |
Protein: ENSMUSP00000136277
Gene: ENSMUSG00000031486
AA Change: S870*
| 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 |
noncoding transcript
Transcript: ENSMUST00000210230
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210590
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211151
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211236
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (65/65) |
| 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 |
|---|
| 1700017N19Rik |
T |
A |
10: 100,612,867 (GRCm38) |
L147Q |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,674,791 (GRCm38) |
T75A |
possibly damaging |
Het |
| Acvr1 |
A |
T |
2: 58,447,585 (GRCm38) |
L495* |
probably null |
Het |
| Add1 |
T |
C |
5: 34,610,617 (GRCm38) |
I240T |
probably benign |
Het |
| Amer3 |
G |
A |
1: 34,579,327 (GRCm38) |
|
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,962,326 (GRCm38) |
V486D |
probably benign |
Het |
| Bcorl1 |
T |
A |
X: 48,405,944 (GRCm38) |
D1697E |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,679,141 (GRCm38) |
D282G |
possibly damaging |
Het |
| Cep112 |
A |
G |
11: 108,472,054 (GRCm38) |
D200G |
probably damaging |
Het |
| Clec4a4 |
C |
T |
6: 122,990,442 (GRCm38) |
P26S |
probably benign |
Het |
| Crygf |
A |
C |
1: 65,928,038 (GRCm38) |
R102S |
possibly damaging |
Het |
| Cyp2b19 |
A |
T |
7: 26,767,160 (GRCm38) |
E404D |
probably benign |
Het |
| Dcdc2a |
A |
G |
13: 25,061,254 (GRCm38) |
I105V |
probably benign |
Het |
| Dus4l |
T |
C |
12: 31,640,939 (GRCm38) |
M238V |
probably damaging |
Het |
| Eprs |
G |
A |
1: 185,381,834 (GRCm38) |
M326I |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,223,835 (GRCm38) |
T1010A |
probably benign |
Het |
| Fam124b |
T |
C |
1: 80,200,431 (GRCm38) |
T284A |
possibly damaging |
Het |
| Fam84a |
C |
T |
12: 14,149,863 (GRCm38) |
V288M |
probably damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,769,124 (GRCm38) |
|
probably benign |
Het |
| Gm15922 |
G |
A |
7: 3,739,640 (GRCm38) |
T23I |
possibly damaging |
Het |
| Gm16223 |
T |
A |
5: 42,067,955 (GRCm38) |
|
probably null |
Het |
| Gm438 |
T |
C |
4: 144,777,759 (GRCm38) |
N274S |
probably damaging |
Het |
| Gm4952 |
T |
A |
19: 12,626,914 (GRCm38) |
M230K |
probably damaging |
Het |
| Gm5828 |
C |
A |
1: 16,769,359 (GRCm38) |
|
noncoding transcript |
Het |
| Gm597 |
T |
A |
1: 28,778,748 (GRCm38) |
T68S |
possibly damaging |
Het |
| Hsh2d |
G |
A |
8: 72,200,460 (GRCm38) |
D229N |
probably benign |
Het |
| Ifna16 |
T |
A |
4: 88,676,742 (GRCm38) |
T39S |
possibly damaging |
Het |
| Kcnc3 |
G |
A |
7: 44,595,603 (GRCm38) |
G439D |
probably damaging |
Het |
| Kif1c |
T |
C |
11: 70,705,729 (GRCm38) |
S257P |
probably damaging |
Het |
| Kng1 |
A |
G |
16: 23,079,760 (GRCm38) |
K456E |
probably damaging |
Het |
| Lpxn |
T |
C |
19: 12,824,050 (GRCm38) |
L142P |
probably damaging |
Het |
| Med23 |
A |
G |
10: 24,892,667 (GRCm38) |
|
probably benign |
Het |
| Mgea5 |
A |
G |
19: 45,776,931 (GRCm38) |
S146P |
probably damaging |
Het |
| Mks1 |
A |
T |
11: 87,861,111 (GRCm38) |
D369V |
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,685,908 (GRCm38) |
Y114N |
probably damaging |
Het |
| Npas2 |
A |
G |
1: 39,311,854 (GRCm38) |
D126G |
possibly damaging |
Het |
| Olfr1314 |
T |
C |
2: 112,092,036 (GRCm38) |
I222V |
probably benign |
Het |
| Olfr1420 |
A |
G |
19: 11,896,614 (GRCm38) |
T198A |
probably benign |
Het |
| Olfr148 |
T |
C |
9: 39,613,696 (GRCm38) |
I43T |
probably damaging |
Het |
| Onecut2 |
T |
C |
18: 64,341,580 (GRCm38) |
F401L |
possibly damaging |
Het |
| Parp11 |
T |
A |
6: 127,474,293 (GRCm38) |
F102Y |
possibly damaging |
Het |
| Pcnx |
C |
T |
12: 81,918,798 (GRCm38) |
H580Y |
probably damaging |
Het |
| Pde3b |
A |
G |
7: 114,530,766 (GRCm38) |
H852R |
probably damaging |
Het |
| Pou2af1 |
A |
G |
9: 51,233,208 (GRCm38) |
T141A |
probably benign |
Het |
| Rgs22 |
A |
C |
15: 36,013,100 (GRCm38) |
V1190G |
probably benign |
Het |
| Rnf112 |
T |
C |
11: 61,450,410 (GRCm38) |
S450G |
probably benign |
Het |
| Rpgrip1l |
A |
T |
8: 91,260,750 (GRCm38) |
I893N |
probably damaging |
Het |
| Rps3a1 |
A |
G |
3: 86,138,527 (GRCm38) |
V210A |
probably benign |
Het |
| Runx2 |
C |
T |
17: 44,735,337 (GRCm38) |
A114T |
possibly damaging |
Het |
| Sardh |
A |
G |
2: 27,197,690 (GRCm38) |
V723A |
possibly damaging |
Het |
| Sdk2 |
C |
T |
11: 113,838,646 (GRCm38) |
|
silent |
Het |
| Secisbp2 |
A |
G |
13: 51,682,095 (GRCm38) |
S742G |
possibly damaging |
Het |
| Selenow |
G |
T |
7: 15,920,298 (GRCm38) |
|
probably benign |
Het |
| Slc30a4 |
A |
G |
2: 122,689,414 (GRCm38) |
V226A |
probably damaging |
Het |
| Sntb2 |
A |
G |
8: 106,991,532 (GRCm38) |
N291D |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 45,769,829 (GRCm38) |
T190A |
probably damaging |
Het |
| Specc1 |
T |
A |
11: 62,156,532 (GRCm38) |
L909H |
probably damaging |
Het |
| Sprr1b |
T |
C |
3: 92,437,107 (GRCm38) |
*154W |
probably null |
Het |
| Taar4 |
T |
A |
10: 23,960,612 (GRCm38) |
M40K |
possibly damaging |
Het |
| Ubr2 |
A |
T |
17: 47,000,823 (GRCm38) |
L34H |
probably damaging |
Het |
| Ubxn6 |
T |
C |
17: 56,069,003 (GRCm38) |
K386R |
probably benign |
Het |
| Vmn2r112 |
A |
T |
17: 22,602,844 (GRCm38) |
T168S |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,514,323 (GRCm38) |
R2303* |
probably null |
Het |
| Zbtb14 |
C |
A |
17: 69,388,502 (GRCm38) |
F398L |
probably damaging |
Het |
| Zfp13 |
G |
T |
17: 23,576,412 (GRCm38) |
T395K |
probably damaging |
Het |
| Zfp281 |
A |
G |
1: 136,626,697 (GRCm38) |
N471S |
probably benign |
Het |
|
| Other mutations in Adgra2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00910:Adgra2
|
APN |
8 |
27,085,983 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
IGL01599:Adgra2
|
APN |
8 |
27,118,733 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL01627:Adgra2
|
APN |
8 |
27,118,733 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL01629:Adgra2
|
APN |
8 |
27,118,733 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL01632:Adgra2
|
APN |
8 |
27,118,733 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
IGL01968:Adgra2
|
APN |
8 |
27,121,235 (GRCm38) |
nonsense |
probably null |
|
|
IGL02551:Adgra2
|
APN |
8 |
27,119,222 (GRCm38) |
missense |
probably benign |
|
|
IGL02820:Adgra2
|
APN |
8 |
27,117,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT1430001:Adgra2
|
UTSW |
8 |
27,114,188 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R0735:Adgra2
|
UTSW |
8 |
27,117,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0799:Adgra2
|
UTSW |
8 |
27,112,495 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1183:Adgra2
|
UTSW |
8 |
27,114,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1276:Adgra2
|
UTSW |
8 |
27,119,824 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1389:Adgra2
|
UTSW |
8 |
27,111,088 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1601:Adgra2
|
UTSW |
8 |
27,110,018 (GRCm38) |
splice site |
probably null |
|
|
R1760:Adgra2
|
UTSW |
8 |
27,119,767 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1957:Adgra2
|
UTSW |
8 |
27,111,168 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R1977:Adgra2
|
UTSW |
8 |
27,115,761 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R2164:Adgra2
|
UTSW |
8 |
27,114,204 (GRCm38) |
nonsense |
probably null |
|
|
R2181:Adgra2
|
UTSW |
8 |
27,121,673 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4282:Adgra2
|
UTSW |
8 |
27,119,244 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R4724:Adgra2
|
UTSW |
8 |
27,098,822 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R4749:Adgra2
|
UTSW |
8 |
27,114,197 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4809:Adgra2
|
UTSW |
8 |
27,110,479 (GRCm38) |
nonsense |
probably null |
|
|
R5718:Adgra2
|
UTSW |
8 |
27,113,486 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6025:Adgra2
|
UTSW |
8 |
27,114,463 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6078:Adgra2
|
UTSW |
8 |
27,114,429 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6079:Adgra2
|
UTSW |
8 |
27,114,429 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6138:Adgra2
|
UTSW |
8 |
27,114,429 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6140:Adgra2
|
UTSW |
8 |
27,115,405 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6232:Adgra2
|
UTSW |
8 |
27,119,165 (GRCm38) |
missense |
probably benign |
0.19 |
|
R6321:Adgra2
|
UTSW |
8 |
27,114,162 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6385:Adgra2
|
UTSW |
8 |
27,118,850 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6676:Adgra2
|
UTSW |
8 |
27,111,240 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R6724:Adgra2
|
UTSW |
8 |
27,114,182 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6862:Adgra2
|
UTSW |
8 |
27,113,437 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6862:Adgra2
|
UTSW |
8 |
27,113,436 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7140:Adgra2
|
UTSW |
8 |
27,120,901 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7242:Adgra2
|
UTSW |
8 |
27,122,027 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7861:Adgra2
|
UTSW |
8 |
27,114,457 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7882:Adgra2
|
UTSW |
8 |
27,117,412 (GRCm38) |
missense |
probably benign |
0.15 |
|
R8069:Adgra2
|
UTSW |
8 |
27,119,223 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8146:Adgra2
|
UTSW |
8 |
27,114,174 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9080:Adgra2
|
UTSW |
8 |
27,114,501 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9103:Adgra2
|
UTSW |
8 |
27,113,408 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9135:Adgra2
|
UTSW |
8 |
27,120,951 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9425:Adgra2
|
UTSW |
8 |
27,086,066 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9473:Adgra2
|
UTSW |
8 |
27,120,915 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9643:Adgra2
|
UTSW |
8 |
27,122,003 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R9648:Adgra2
|
UTSW |
8 |
27,119,144 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0050:Adgra2
|
UTSW |
8 |
27,113,418 (GRCm38) |
missense |
probably benign |
0.32 |
|
X0062:Adgra2
|
UTSW |
8 |
27,120,806 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGACCACGCATTTCCTGTACC -3'
(R):5'- CGCTCTCACTGGACAACAGCTC -3'
Sequencing Primer
(F):5'- GCATTTCCTGTACCTGGCTATG -3'
(R):5'- CGCCCATGATGCAGGTTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation