Incidental Mutation 'R6302:Adgrg6'
| ID |
509286 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrg6
|
| Ensembl Gene |
ENSMUSG00000039116 |
| Gene Name |
adhesion G protein-coupled receptor G6 |
| Synonyms |
1190004A11Rik, DREG, LOC215798, Gpr126 |
| MMRRC Submission |
044467-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6302 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
14278327-14421403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14317227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 531
(D531V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041168]
[ENSMUST00000208429]
|
| AlphaFold |
Q6F3F9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041168
AA Change: D503V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116
AA Change: D503V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
CUB
|
41 |
149 |
8.59e-33 |
SMART |
|
low complexity region
|
609 |
620 |
N/A |
INTRINSIC |
|
low complexity region
|
695 |
706 |
N/A |
INTRINSIC |
|
GPS
|
769 |
822 |
2.48e-12 |
SMART |
|
Pfam:7tm_2
|
831 |
1080 |
4.1e-52 |
PFAM |
|
low complexity region
|
1122 |
1154 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208429
AA Change: D531V
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene, which is upregulated in human umbilical vein endothelial cells, encodes a G protein-coupled receptor. Variations in this gene can affect a person's stature. Multiple transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a null mutation die during organogenesis and display signs of circulatory failure. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
G |
T |
4: 144,396,760 (GRCm39) |
S324* |
probably null |
Het |
| Actl11 |
T |
G |
9: 107,806,772 (GRCm39) |
V365G |
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,616,728 (GRCm39) |
S2354P |
probably benign |
Het |
| Ano9 |
A |
T |
7: 140,684,221 (GRCm39) |
W514R |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,528,589 (GRCm39) |
V266E |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,167,634 (GRCm39) |
I1345T |
probably damaging |
Het |
| Bpifb4 |
G |
A |
2: 153,801,587 (GRCm39) |
M355I |
probably benign |
Het |
| Catsperb |
T |
C |
12: 101,554,402 (GRCm39) |
S699P |
possibly damaging |
Het |
| Cdh23 |
T |
G |
10: 60,140,872 (GRCm39) |
I3161L |
possibly damaging |
Het |
| Chd3 |
T |
C |
11: 69,244,604 (GRCm39) |
T1257A |
probably damaging |
Het |
| Cnnm4 |
C |
T |
1: 36,539,036 (GRCm39) |
T638I |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,504,646 (GRCm39) |
D1925G |
probably damaging |
Het |
| Cyp26c1 |
A |
G |
19: 37,674,936 (GRCm39) |
T86A |
probably damaging |
Het |
| Cyp3a63-ps |
A |
G |
5: 145,564,847 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah14 |
T |
A |
1: 181,428,771 (GRCm39) |
I259N |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 118,019,981 (GRCm39) |
D22G |
probably benign |
Het |
| Epn2 |
T |
G |
11: 61,437,312 (GRCm39) |
T87P |
probably damaging |
Het |
| Fbxl18 |
A |
G |
5: 142,874,578 (GRCm39) |
L81P |
probably damaging |
Het |
| Gas1 |
A |
T |
13: 60,323,970 (GRCm39) |
D221E |
probably damaging |
Het |
| Gm8356 |
T |
C |
14: 17,691,275 (GRCm39) |
Y130C |
probably damaging |
Het |
| Gpr151 |
T |
G |
18: 42,712,459 (GRCm39) |
K73T |
probably damaging |
Het |
| Helq |
A |
C |
5: 100,946,305 (GRCm39) |
V12G |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,494,806 (GRCm39) |
T74A |
probably benign |
Het |
| Kirrel3 |
G |
A |
9: 34,919,045 (GRCm39) |
V234I |
probably damaging |
Het |
| Kxd1 |
T |
A |
8: 70,972,713 (GRCm39) |
|
probably null |
Het |
| Lif |
T |
C |
11: 4,218,924 (GRCm39) |
Y68H |
probably damaging |
Het |
| Map6 |
A |
G |
7: 98,985,314 (GRCm39) |
Q406R |
probably damaging |
Het |
| Mcoln3 |
A |
T |
3: 145,830,527 (GRCm39) |
M86L |
probably benign |
Het |
| Mei1 |
T |
A |
15: 81,987,439 (GRCm39) |
Y834* |
probably null |
Het |
| Mroh1 |
T |
C |
15: 76,320,319 (GRCm39) |
|
probably null |
Het |
| Myo15b |
T |
C |
11: 115,777,065 (GRCm39) |
I2319T |
possibly damaging |
Het |
| Myo7b |
T |
G |
18: 32,127,439 (GRCm39) |
D621A |
probably damaging |
Het |
| Naip5 |
C |
T |
13: 100,359,674 (GRCm39) |
A521T |
possibly damaging |
Het |
| Nek7 |
T |
C |
1: 138,426,351 (GRCm39) |
D254G |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 34,024,921 (GRCm39) |
R560G |
possibly damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,464 (GRCm39) |
F265L |
probably benign |
Het |
| Or52x1 |
A |
T |
7: 104,852,926 (GRCm39) |
L208H |
probably damaging |
Het |
| Pbx1 |
T |
A |
1: 168,018,910 (GRCm39) |
T312S |
probably benign |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Pitrm1 |
A |
G |
13: 6,610,097 (GRCm39) |
S390G |
probably damaging |
Het |
| Plcxd3 |
C |
T |
15: 4,546,239 (GRCm39) |
T81M |
probably damaging |
Het |
| Pmf1 |
C |
T |
3: 88,307,017 (GRCm39) |
|
probably null |
Het |
| Rabep1 |
T |
C |
11: 70,825,947 (GRCm39) |
V739A |
probably damaging |
Het |
| Rex2 |
A |
G |
4: 147,142,451 (GRCm39) |
D313G |
possibly damaging |
Het |
| Rpia |
C |
T |
6: 70,750,485 (GRCm39) |
V216I |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sec13 |
T |
A |
6: 113,712,167 (GRCm39) |
H56L |
probably damaging |
Het |
| Sec16a |
A |
T |
2: 26,315,817 (GRCm39) |
V1733D |
probably damaging |
Het |
| Sim2 |
G |
A |
16: 93,898,089 (GRCm39) |
A108T |
probably damaging |
Het |
| Slc27a5 |
T |
C |
7: 12,722,479 (GRCm39) |
D665G |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,383,849 (GRCm39) |
V180E |
probably damaging |
Het |
| Smarcad1 |
T |
G |
6: 65,052,122 (GRCm39) |
N38K |
possibly damaging |
Het |
| Spem2 |
T |
C |
11: 69,709,091 (GRCm39) |
T45A |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,057,432 (GRCm39) |
S714P |
probably benign |
Het |
| Taar7b |
T |
A |
10: 23,876,158 (GRCm39) |
S108T |
possibly damaging |
Het |
| Tbl3 |
T |
C |
17: 24,923,645 (GRCm39) |
K256E |
probably benign |
Het |
| Tcam1 |
T |
G |
11: 106,177,276 (GRCm39) |
C423G |
probably damaging |
Het |
| Trpm4 |
A |
T |
7: 44,977,143 (GRCm39) |
|
probably null |
Het |
| Ttyh2 |
T |
C |
11: 114,592,662 (GRCm39) |
C231R |
probably damaging |
Het |
| Ugt3a1 |
C |
T |
15: 9,365,397 (GRCm39) |
P337S |
probably damaging |
Het |
| Vmn2r83 |
A |
C |
10: 79,304,837 (GRCm39) |
T16P |
possibly damaging |
Het |
| Vps52 |
T |
C |
17: 34,182,189 (GRCm39) |
F589S |
probably damaging |
Het |
| Xkr4 |
T |
C |
1: 3,286,961 (GRCm39) |
T410A |
probably damaging |
Het |
| Xkr9 |
A |
G |
1: 13,742,726 (GRCm39) |
T4A |
probably damaging |
Het |
| Yars2 |
T |
C |
16: 16,122,438 (GRCm39) |
L268P |
probably damaging |
Het |
| Zbtb41 |
C |
A |
1: 139,357,027 (GRCm39) |
N427K |
possibly damaging |
Het |
| Zeb2 |
T |
C |
2: 44,887,771 (GRCm39) |
T414A |
probably benign |
Het |
|
| Other mutations in Adgrg6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Adgrg6
|
APN |
10 |
14,343,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00428:Adgrg6
|
APN |
10 |
14,343,119 (GRCm39) |
missense |
probably benign |
|
|
IGL00489:Adgrg6
|
APN |
10 |
14,316,147 (GRCm39) |
splice site |
probably null |
|
|
IGL00496:Adgrg6
|
APN |
10 |
14,326,322 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00743:Adgrg6
|
APN |
10 |
14,411,703 (GRCm39) |
splice site |
probably benign |
|
|
IGL01011:Adgrg6
|
APN |
10 |
14,285,542 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01291:Adgrg6
|
APN |
10 |
14,286,274 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01453:Adgrg6
|
APN |
10 |
14,296,202 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01594:Adgrg6
|
APN |
10 |
14,310,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02013:Adgrg6
|
APN |
10 |
14,302,555 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02037:Adgrg6
|
APN |
10 |
14,317,185 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02070:Adgrg6
|
APN |
10 |
14,343,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02164:Adgrg6
|
APN |
10 |
14,399,299 (GRCm39) |
intron |
probably benign |
|
|
IGL02262:Adgrg6
|
APN |
10 |
14,317,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02272:Adgrg6
|
APN |
10 |
14,344,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02605:Adgrg6
|
APN |
10 |
14,342,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02800:Adgrg6
|
APN |
10 |
14,296,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03175:Adgrg6
|
APN |
10 |
14,315,502 (GRCm39) |
missense |
probably benign |
0.04 |
|
ANU05:Adgrg6
|
UTSW |
10 |
14,286,274 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0245:Adgrg6
|
UTSW |
10 |
14,333,810 (GRCm39) |
splice site |
probably benign |
|
|
R0356:Adgrg6
|
UTSW |
10 |
14,302,642 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0388:Adgrg6
|
UTSW |
10 |
14,326,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0508:Adgrg6
|
UTSW |
10 |
14,326,360 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0626:Adgrg6
|
UTSW |
10 |
14,312,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1116:Adgrg6
|
UTSW |
10 |
14,314,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1205:Adgrg6
|
UTSW |
10 |
14,310,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1438:Adgrg6
|
UTSW |
10 |
14,344,585 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1599:Adgrg6
|
UTSW |
10 |
14,343,057 (GRCm39) |
nonsense |
probably null |
|
|
R1714:Adgrg6
|
UTSW |
10 |
14,315,514 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1728:Adgrg6
|
UTSW |
10 |
14,315,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1729:Adgrg6
|
UTSW |
10 |
14,315,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Adgrg6
|
UTSW |
10 |
14,315,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2124:Adgrg6
|
UTSW |
10 |
14,342,930 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2906:Adgrg6
|
UTSW |
10 |
14,308,694 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3410:Adgrg6
|
UTSW |
10 |
14,316,114 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3982:Adgrg6
|
UTSW |
10 |
14,324,589 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4376:Adgrg6
|
UTSW |
10 |
14,344,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4376:Adgrg6
|
UTSW |
10 |
14,314,238 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4445:Adgrg6
|
UTSW |
10 |
14,285,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4446:Adgrg6
|
UTSW |
10 |
14,285,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4472:Adgrg6
|
UTSW |
10 |
14,312,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4622:Adgrg6
|
UTSW |
10 |
14,317,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4623:Adgrg6
|
UTSW |
10 |
14,317,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Adgrg6
|
UTSW |
10 |
14,344,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4882:Adgrg6
|
UTSW |
10 |
14,310,081 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4978:Adgrg6
|
UTSW |
10 |
14,296,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5246:Adgrg6
|
UTSW |
10 |
14,302,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5420:Adgrg6
|
UTSW |
10 |
14,302,730 (GRCm39) |
nonsense |
probably null |
|
|
R5461:Adgrg6
|
UTSW |
10 |
14,296,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5580:Adgrg6
|
UTSW |
10 |
14,286,228 (GRCm39) |
nonsense |
probably null |
|
|
R5644:Adgrg6
|
UTSW |
10 |
14,308,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5847:Adgrg6
|
UTSW |
10 |
14,302,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5900:Adgrg6
|
UTSW |
10 |
14,314,163 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6318:Adgrg6
|
UTSW |
10 |
14,343,241 (GRCm39) |
missense |
probably benign |
|
|
R6319:Adgrg6
|
UTSW |
10 |
14,307,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6339:Adgrg6
|
UTSW |
10 |
14,310,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6683:Adgrg6
|
UTSW |
10 |
14,331,911 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6983:Adgrg6
|
UTSW |
10 |
14,307,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7337:Adgrg6
|
UTSW |
10 |
14,343,095 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7378:Adgrg6
|
UTSW |
10 |
14,411,636 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7463:Adgrg6
|
UTSW |
10 |
14,310,140 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7470:Adgrg6
|
UTSW |
10 |
14,319,810 (GRCm39) |
missense |
probably benign |
|
|
R7558:Adgrg6
|
UTSW |
10 |
14,307,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7593:Adgrg6
|
UTSW |
10 |
14,344,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Adgrg6
|
UTSW |
10 |
14,326,321 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7768:Adgrg6
|
UTSW |
10 |
14,307,410 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7962:Adgrg6
|
UTSW |
10 |
14,296,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8049:Adgrg6
|
UTSW |
10 |
14,303,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8059:Adgrg6
|
UTSW |
10 |
14,344,794 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8373:Adgrg6
|
UTSW |
10 |
14,343,078 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8406:Adgrg6
|
UTSW |
10 |
14,343,082 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8722:Adgrg6
|
UTSW |
10 |
14,296,188 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9046:Adgrg6
|
UTSW |
10 |
14,323,858 (GRCm39) |
missense |
probably benign |
|
|
R9422:Adgrg6
|
UTSW |
10 |
14,302,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9482:Adgrg6
|
UTSW |
10 |
14,307,423 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9682:Adgrg6
|
UTSW |
10 |
14,316,128 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9764:Adgrg6
|
UTSW |
10 |
14,302,515 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9794:Adgrg6
|
UTSW |
10 |
14,314,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGTATGCGTGTGATTCTTACC -3'
(R):5'- CGACATTTTGAAACTTTCAGGC -3'
Sequencing Primer
(F):5'- CCTTGCTTCTCAAATCAATACAATG -3'
(R):5'- TGAAACTTTCAGGCTTTGTTCTC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation