Incidental Mutation 'R6321:Adgra2'
| ID |
510351 |
| 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 |
044418-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6321 (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 27604190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 460
(M460K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033876]
[ENSMUST00000178514]
[ENSMUST00000179351]
|
| AlphaFold |
Q91ZV8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033876
AA Change: M460K
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000033876
Gene: ENSMUSG00000031486
AA Change: M460K
| 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: ENSMUST00000178514
AA Change: M460K
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000136277
Gene: ENSMUSG00000031486
AA Change: M460K
| 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 |
unknown
Transcript: ENSMUST00000179207
AA Change: M10K
|
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
100% (52/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
G |
T |
13: 111,391,915 (GRCm39) |
M83I |
probably damaging |
Het |
| Aldh16a1 |
G |
A |
7: 44,799,189 (GRCm39) |
A31V |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,740,587 (GRCm39) |
|
probably benign |
Het |
| Arrdc4 |
C |
A |
7: 68,398,793 (GRCm39) |
D8Y |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,494,953 (GRCm39) |
Y110H |
probably damaging |
Het |
| Blnk |
A |
T |
19: 40,922,903 (GRCm39) |
Y405N |
probably damaging |
Het |
| Capsl |
T |
C |
15: 9,461,855 (GRCm39) |
F84L |
probably damaging |
Het |
| Cdcp3 |
T |
C |
7: 130,858,735 (GRCm39) |
|
probably null |
Het |
| Cenpl |
T |
C |
1: 160,902,465 (GRCm39) |
S46P |
probably benign |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Chrnd |
C |
T |
1: 87,119,951 (GRCm39) |
R90C |
probably damaging |
Het |
| Cyfip2 |
A |
T |
11: 46,182,347 (GRCm39) |
M37K |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,106,027 (GRCm39) |
E625G |
possibly damaging |
Het |
| Dnah5 |
T |
G |
15: 28,372,557 (GRCm39) |
V2936G |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,783,433 (GRCm39) |
M2055T |
probably damaging |
Het |
| Epb41l2 |
A |
T |
10: 25,344,026 (GRCm39) |
R274S |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,433,139 (GRCm39) |
H371L |
probably damaging |
Het |
| Evi5l |
C |
A |
8: 4,253,080 (GRCm39) |
P454T |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Golgb1 |
T |
A |
16: 36,738,559 (GRCm39) |
C2299* |
probably null |
Het |
| Heca |
G |
C |
10: 17,790,991 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
C |
T |
13: 14,697,414 (GRCm39) |
A9T |
probably benign |
Het |
| Hs3st6 |
T |
A |
17: 24,977,542 (GRCm39) |
W341R |
probably damaging |
Het |
| Kidins220 |
C |
T |
12: 25,107,533 (GRCm39) |
S1571L |
probably benign |
Het |
| Klk1b9 |
A |
G |
7: 43,443,732 (GRCm39) |
E82G |
probably damaging |
Het |
| Ltbp3 |
C |
A |
19: 5,795,685 (GRCm39) |
H180Q |
probably benign |
Het |
| Mecom |
A |
G |
3: 30,034,741 (GRCm39) |
Y502H |
probably damaging |
Het |
| Mfsd2a |
A |
G |
4: 122,843,165 (GRCm39) |
V372A |
probably benign |
Het |
| Mrgprd |
A |
G |
7: 144,875,879 (GRCm39) |
D250G |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,287,397 (GRCm39) |
D191G |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Or4f59 |
A |
G |
2: 111,873,113 (GRCm39) |
V88A |
probably benign |
Het |
| Or52w1 |
A |
G |
7: 105,018,109 (GRCm39) |
Y192C |
probably damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,594,015 (GRCm39) |
V1342A |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,115,151 (GRCm39) |
E789G |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,532,783 (GRCm39) |
T1471A |
probably benign |
Het |
| Scarb1 |
T |
A |
5: 125,381,395 (GRCm39) |
S50C |
probably damaging |
Het |
| Slc4a8 |
C |
T |
15: 100,687,045 (GRCm39) |
T283M |
probably damaging |
Het |
| Smc2 |
C |
A |
4: 52,462,814 (GRCm39) |
D601E |
probably benign |
Het |
| Snx6 |
C |
A |
12: 54,798,798 (GRCm39) |
V221F |
probably damaging |
Het |
| Spag17 |
A |
C |
3: 99,995,743 (GRCm39) |
K1794T |
probably benign |
Het |
| Tpo |
A |
G |
12: 30,153,107 (GRCm39) |
W416R |
probably damaging |
Het |
| Ttc13 |
C |
A |
8: 125,409,930 (GRCm39) |
K427N |
probably damaging |
Het |
| Upf3a |
A |
T |
8: 13,837,466 (GRCm39) |
N137I |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,581,243 (GRCm39) |
Q3708* |
probably null |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,852,816 (GRCm39) |
F33L |
probably damaging |
Het |
| Zfp454 |
A |
G |
11: 50,763,876 (GRCm39) |
F408L |
probably damaging |
Het |
| Zfp639 |
T |
C |
3: 32,571,237 (GRCm39) |
Y40H |
probably 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 |
|
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'- ATGTTGGCCCTGAATCCCAG -3'
(R):5'- ATCCACCAGCATCAGGTTGC -3'
Sequencing Primer
(F):5'- CTGAATCCCAGAGGCTAGTTCTG -3'
(R):5'- CATCAGGTTGCTGGCCATGTC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation