Incidental Mutation 'R1438:Adgrg6'
ID |
160781 |
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 |
039493-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1438 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
14278327-14421403 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 14344585 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 123
(S123G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043055
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041168]
[ENSMUST00000208429]
|
AlphaFold |
Q6F3F9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041168
AA Change: S123G
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000043055 Gene: ENSMUSG00000039116 AA Change: S123G
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 |
possibly damaging
Transcript: ENSMUST00000208429
AA Change: S123G
PolyPhen 2
Score 0.536 (Sensitivity: 0.88; Specificity: 0.90)
|
Meta Mutation Damage Score |
0.0833 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 87.3%
|
Validation Efficiency |
99% (80/81) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6b |
A |
T |
5: 137,552,871 (GRCm39) |
I67F |
probably damaging |
Het |
Adam24 |
A |
T |
8: 41,134,431 (GRCm39) |
N633I |
probably benign |
Het |
Afdn |
T |
A |
17: 14,075,652 (GRCm39) |
F940L |
probably damaging |
Het |
Ahrr |
A |
T |
13: 74,372,987 (GRCm39) |
Y26* |
probably null |
Het |
Akap1 |
C |
A |
11: 88,735,577 (GRCm39) |
G362* |
probably null |
Het |
Aox3 |
A |
T |
1: 58,192,337 (GRCm39) |
T536S |
probably benign |
Het |
Boc |
A |
T |
16: 44,309,109 (GRCm39) |
|
probably null |
Het |
Cchcr1 |
T |
C |
17: 35,841,457 (GRCm39) |
|
probably null |
Het |
Cct2 |
A |
T |
10: 116,890,897 (GRCm39) |
|
probably benign |
Het |
Cd84 |
A |
T |
1: 171,679,685 (GRCm39) |
Y121F |
probably damaging |
Het |
Cecr2 |
T |
A |
6: 120,738,433 (GRCm39) |
C275* |
probably null |
Het |
Chchd3 |
C |
A |
6: 32,985,503 (GRCm39) |
|
probably benign |
Het |
Ckmt2 |
A |
T |
13: 92,007,971 (GRCm39) |
|
probably benign |
Het |
Col5a3 |
T |
C |
9: 20,691,253 (GRCm39) |
K1131E |
probably damaging |
Het |
Dek |
A |
T |
13: 47,241,647 (GRCm39) |
S306T |
probably benign |
Het |
Dhx32 |
T |
C |
7: 133,339,069 (GRCm39) |
E322G |
possibly damaging |
Het |
Dlg5 |
T |
A |
14: 24,204,673 (GRCm39) |
D941V |
possibly damaging |
Het |
Dnah10 |
A |
G |
5: 124,876,009 (GRCm39) |
N2559S |
probably benign |
Het |
Dnajc3 |
A |
G |
14: 119,205,518 (GRCm39) |
T171A |
probably benign |
Het |
Eftud2 |
G |
T |
11: 102,750,868 (GRCm39) |
F308L |
probably damaging |
Het |
Elp6 |
T |
C |
9: 110,143,123 (GRCm39) |
F95S |
probably damaging |
Het |
Emsy |
C |
T |
7: 98,270,613 (GRCm39) |
V450I |
possibly damaging |
Het |
Exoc3 |
A |
T |
13: 74,338,298 (GRCm39) |
M362K |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,178,637 (GRCm39) |
D1474E |
probably damaging |
Het |
Fcgbp |
T |
A |
7: 27,803,158 (GRCm39) |
C1587* |
probably null |
Het |
Fosl2 |
T |
A |
5: 32,304,329 (GRCm39) |
L88Q |
probably damaging |
Het |
Fsd2 |
T |
C |
7: 81,198,621 (GRCm39) |
D381G |
probably benign |
Het |
Golim4 |
A |
C |
3: 75,863,440 (GRCm39) |
S56A |
probably damaging |
Het |
Gpr39 |
T |
C |
1: 125,800,093 (GRCm39) |
|
probably benign |
Het |
Gucy1b2 |
T |
C |
14: 62,651,770 (GRCm39) |
I409V |
probably damaging |
Het |
Hivep1 |
A |
G |
13: 42,311,596 (GRCm39) |
T1279A |
probably benign |
Het |
Ifit1bl2 |
T |
A |
19: 34,596,569 (GRCm39) |
Q349L |
possibly damaging |
Het |
Kcnc1 |
A |
T |
7: 46,077,691 (GRCm39) |
I498F |
possibly damaging |
Het |
Kctd21 |
T |
A |
7: 96,996,704 (GRCm39) |
I59N |
probably damaging |
Het |
Lama5 |
T |
A |
2: 179,824,593 (GRCm39) |
T2577S |
probably benign |
Het |
Mief2 |
G |
T |
11: 60,621,140 (GRCm39) |
R9M |
possibly damaging |
Het |
Mmp3 |
T |
C |
9: 7,453,705 (GRCm39) |
V442A |
probably benign |
Het |
Nkapd1 |
C |
A |
9: 50,518,972 (GRCm39) |
K213N |
possibly damaging |
Het |
Nrxn3 |
C |
T |
12: 90,298,909 (GRCm39) |
R477W |
probably damaging |
Het |
Or12e7 |
A |
G |
2: 87,288,336 (GRCm39) |
T276A |
probably benign |
Het |
Or7a41 |
T |
A |
10: 78,871,122 (GRCm39) |
V164E |
possibly damaging |
Het |
Parp1 |
A |
G |
1: 180,418,807 (GRCm39) |
T656A |
probably benign |
Het |
Pcdhb19 |
A |
G |
18: 37,631,015 (GRCm39) |
D270G |
probably damaging |
Het |
Phlpp1 |
A |
G |
1: 106,101,142 (GRCm39) |
D470G |
possibly damaging |
Het |
Prdm1 |
T |
C |
10: 44,318,124 (GRCm39) |
E248G |
probably benign |
Het |
Prtg |
C |
T |
9: 72,818,032 (GRCm39) |
|
probably benign |
Het |
Ptpn1 |
T |
C |
2: 167,818,529 (GRCm39) |
Y424H |
probably damaging |
Het |
Ptprr |
T |
C |
10: 116,092,109 (GRCm39) |
V369A |
probably damaging |
Het |
Rai1 |
T |
G |
11: 60,076,221 (GRCm39) |
V95G |
probably benign |
Het |
Rasal3 |
T |
A |
17: 32,612,509 (GRCm39) |
|
probably null |
Het |
Rbm19 |
A |
G |
5: 120,260,961 (GRCm39) |
E195G |
probably benign |
Het |
Rhbdd3 |
T |
A |
11: 5,053,332 (GRCm39) |
L44Q |
probably damaging |
Het |
Ripply2 |
T |
C |
9: 86,901,713 (GRCm39) |
W80R |
probably damaging |
Het |
Rnf183 |
A |
G |
4: 62,346,760 (GRCm39) |
C13R |
probably damaging |
Het |
Rorb |
A |
G |
19: 18,932,417 (GRCm39) |
L367P |
probably damaging |
Het |
Rpl7a-ps5 |
C |
T |
17: 58,146,135 (GRCm39) |
|
probably benign |
Het |
Rreb1 |
A |
G |
13: 38,114,581 (GRCm39) |
N647D |
probably benign |
Het |
Rtn1 |
A |
T |
12: 72,351,187 (GRCm39) |
S341T |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,588,046 (GRCm39) |
S2632G |
probably benign |
Het |
Scube1 |
A |
G |
15: 83,499,227 (GRCm39) |
C633R |
possibly damaging |
Het |
Sdk1 |
A |
T |
5: 142,024,078 (GRCm39) |
I723F |
probably damaging |
Het |
Sec23a |
A |
T |
12: 59,048,796 (GRCm39) |
C109S |
probably damaging |
Het |
Septin11 |
T |
C |
5: 93,296,287 (GRCm39) |
F60L |
probably damaging |
Het |
Sgf29 |
G |
A |
7: 126,271,063 (GRCm39) |
|
probably null |
Het |
Skint5 |
A |
G |
4: 113,413,308 (GRCm39) |
|
probably benign |
Het |
Smo |
G |
A |
6: 29,755,482 (GRCm39) |
V385I |
possibly damaging |
Het |
Tada2a |
G |
A |
11: 84,000,837 (GRCm39) |
T76I |
probably damaging |
Het |
Tas2r118 |
T |
A |
6: 23,969,422 (GRCm39) |
H213L |
possibly damaging |
Het |
Thoc5 |
A |
T |
11: 4,861,427 (GRCm39) |
|
probably benign |
Het |
Tmem33 |
T |
A |
5: 67,424,634 (GRCm39) |
|
probably null |
Het |
Top1mt |
A |
G |
15: 75,546,247 (GRCm39) |
L78P |
probably damaging |
Het |
Uvssa |
T |
A |
5: 33,571,228 (GRCm39) |
|
probably benign |
Het |
Vmn2r50 |
A |
T |
7: 9,784,062 (GRCm39) |
C137* |
probably null |
Het |
Vmn2r81 |
A |
G |
10: 79,129,691 (GRCm39) |
T861A |
probably benign |
Het |
Wnt3 |
A |
T |
11: 103,699,077 (GRCm39) |
N61I |
probably damaging |
Het |
Zswim9 |
A |
G |
7: 13,011,144 (GRCm39) |
I68T |
possibly damaging |
Het |
Zzef1 |
T |
C |
11: 72,803,771 (GRCm39) |
I2535T |
probably damaging |
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 |
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 |
|
R6302:Adgrg6
|
UTSW |
10 |
14,317,227 (GRCm39) |
missense |
probably benign |
0.22 |
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'- TCCTGACCATTCGCATAAAAGAGCC -3'
(R):5'- TGACAGTTACTGCTTGATGCCCC -3'
Sequencing Primer
(F):5'- AAGAGCCTAATTCTGTTCTCCAG -3'
(R):5'- CCCCCAGGAAGTAGGATTGTTG -3'
|
Posted On |
2014-03-14 |