Incidental Mutation 'R7470:Adgrg6'
ID |
579128 |
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 |
045544-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7470 (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 C
at 14319810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 476
(T476A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043055
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041168]
[ENSMUST00000208429]
|
AlphaFold |
Q6F3F9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041168
AA Change: T476A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000043055 Gene: ENSMUSG00000039116 AA Change: T476A
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: T504A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
A |
T |
9: 55,898,622 (GRCm39) |
V238E |
possibly damaging |
Het |
Actn3 |
G |
A |
19: 4,917,842 (GRCm39) |
S375L |
possibly damaging |
Het |
Afm |
T |
A |
5: 90,679,486 (GRCm39) |
S327T |
probably damaging |
Het |
Apol7e |
T |
A |
15: 77,602,143 (GRCm39) |
M247K |
probably benign |
Het |
Aqp12 |
T |
A |
1: 92,936,385 (GRCm39) |
L237Q |
probably damaging |
Het |
Arhgef12 |
A |
T |
9: 42,951,848 (GRCm39) |
S63T |
probably damaging |
Het |
Axdnd1 |
T |
A |
1: 156,204,086 (GRCm39) |
E393V |
|
Het |
Cacna1g |
T |
A |
11: 94,352,765 (GRCm39) |
D365V |
possibly damaging |
Het |
Ccdc3 |
T |
A |
2: 5,143,115 (GRCm39) |
V124E |
possibly damaging |
Het |
Ccr7 |
C |
T |
11: 99,036,383 (GRCm39) |
V180M |
possibly damaging |
Het |
Cd47 |
T |
A |
16: 49,704,585 (GRCm39) |
I119K |
|
Het |
Cenpe |
A |
T |
3: 134,947,916 (GRCm39) |
L1158F |
probably damaging |
Het |
Cfi |
A |
G |
3: 129,648,736 (GRCm39) |
R207G |
probably benign |
Het |
Cyp2j6 |
T |
C |
4: 96,423,708 (GRCm39) |
Y220C |
probably benign |
Het |
Ddhd2 |
A |
G |
8: 26,225,087 (GRCm39) |
F577L |
probably benign |
Het |
Dhx40 |
T |
C |
11: 86,667,528 (GRCm39) |
E537G |
probably damaging |
Het |
Disp3 |
A |
T |
4: 148,345,527 (GRCm39) |
C438S |
possibly damaging |
Het |
Dock3 |
A |
G |
9: 106,882,644 (GRCm39) |
S380P |
probably damaging |
Het |
Ehmt2 |
A |
G |
17: 35,118,372 (GRCm39) |
E106G |
possibly damaging |
Het |
Fmnl2 |
A |
T |
2: 52,932,377 (GRCm39) |
I119F |
probably damaging |
Het |
Gm11554 |
A |
C |
11: 99,695,190 (GRCm39) |
S8A |
unknown |
Het |
Grm7 |
A |
G |
6: 111,478,476 (GRCm39) |
I54V |
|
Het |
Hbs1l |
T |
C |
10: 21,234,683 (GRCm39) |
F579L |
possibly damaging |
Het |
Hgf |
C |
A |
5: 16,823,854 (GRCm39) |
Q684K |
probably benign |
Het |
Igsf3 |
T |
C |
3: 101,358,391 (GRCm39) |
Y741H |
possibly damaging |
Het |
Il17rb |
C |
A |
14: 29,719,990 (GRCm39) |
G304W |
probably damaging |
Het |
Ino80c |
C |
T |
18: 24,241,895 (GRCm39) |
W163* |
probably null |
Het |
Kcnt1 |
A |
C |
2: 25,799,845 (GRCm39) |
D997A |
probably damaging |
Het |
Klf7 |
C |
T |
1: 64,081,472 (GRCm39) |
|
probably null |
Het |
Lingo1 |
T |
C |
9: 56,527,908 (GRCm39) |
Y233C |
probably damaging |
Het |
Lmo7 |
C |
A |
14: 102,138,040 (GRCm39) |
T914K |
possibly damaging |
Het |
Mark1 |
G |
T |
1: 184,660,241 (GRCm39) |
Y138* |
probably null |
Het |
Mcm3ap |
C |
A |
10: 76,344,231 (GRCm39) |
T1791K |
probably damaging |
Het |
Mcts2 |
T |
C |
2: 152,529,582 (GRCm39) |
I131T |
probably benign |
Het |
Mipep |
A |
G |
14: 61,040,344 (GRCm39) |
D288G |
probably benign |
Het |
Ms4a8a |
T |
A |
19: 11,053,714 (GRCm39) |
N131Y |
possibly damaging |
Het |
Nalcn |
T |
C |
14: 123,809,456 (GRCm39) |
E232G |
probably benign |
Het |
Nat10 |
C |
T |
2: 103,565,226 (GRCm39) |
A452T |
probably benign |
Het |
Nfatc2 |
G |
A |
2: 168,365,227 (GRCm39) |
Q596* |
probably null |
Het |
Nudt13 |
G |
T |
14: 20,359,791 (GRCm39) |
G173W |
probably damaging |
Het |
Or10n1 |
C |
A |
9: 39,524,998 (GRCm39) |
T45K |
probably benign |
Het |
Or1e16 |
T |
A |
11: 73,286,714 (GRCm39) |
I45F |
probably damaging |
Het |
Or5l14 |
A |
T |
2: 87,792,793 (GRCm39) |
C148S |
possibly damaging |
Het |
Or8b4 |
T |
A |
9: 37,830,592 (GRCm39) |
I213N |
probably damaging |
Het |
Otud4 |
T |
C |
8: 80,399,989 (GRCm39) |
V901A |
probably benign |
Het |
Pah |
G |
A |
10: 87,399,286 (GRCm39) |
R155Q |
probably damaging |
Het |
Pkd1l3 |
A |
G |
8: 110,365,008 (GRCm39) |
H1130R |
probably benign |
Het |
Pnliprp1 |
A |
G |
19: 58,720,457 (GRCm39) |
N111S |
possibly damaging |
Het |
Ppp1r21 |
T |
C |
17: 88,869,649 (GRCm39) |
Y401H |
probably damaging |
Het |
Prr14 |
A |
G |
7: 127,074,997 (GRCm39) |
K466R |
probably null |
Het |
Ralgapa2 |
A |
G |
2: 146,266,587 (GRCm39) |
L663P |
probably damaging |
Het |
Reg3d |
A |
T |
6: 78,353,071 (GRCm39) |
C171S |
possibly damaging |
Het |
Reln |
G |
T |
5: 22,147,739 (GRCm39) |
L2404I |
probably damaging |
Het |
Rnasel |
A |
C |
1: 153,629,777 (GRCm39) |
I98L |
probably benign |
Het |
Rnf216 |
T |
C |
5: 142,978,480 (GRCm39) |
D886G |
possibly damaging |
Het |
Rp1l1 |
A |
G |
14: 64,266,015 (GRCm39) |
R534G |
probably benign |
Het |
Selenon |
A |
C |
4: 134,267,061 (GRCm39) |
S514A |
probably benign |
Het |
Sema3d |
T |
A |
5: 12,558,152 (GRCm39) |
I228N |
probably damaging |
Het |
Serpinb9g |
T |
A |
13: 33,670,617 (GRCm39) |
I35N |
probably damaging |
Het |
Siglec1 |
A |
C |
2: 130,917,744 (GRCm39) |
H1044Q |
probably benign |
Het |
Skint5 |
T |
A |
4: 113,614,128 (GRCm39) |
I693F |
unknown |
Het |
Skint5 |
G |
T |
4: 113,743,000 (GRCm39) |
L370M |
unknown |
Het |
Slc12a1 |
G |
A |
2: 125,059,815 (GRCm39) |
W905* |
probably null |
Het |
Slc26a9 |
G |
C |
1: 131,691,781 (GRCm39) |
V675L |
probably benign |
Het |
Slc5a7 |
A |
T |
17: 54,583,990 (GRCm39) |
Y433* |
probably null |
Het |
Slc7a4 |
A |
G |
16: 17,392,977 (GRCm39) |
I274T |
probably benign |
Het |
Slmap |
A |
G |
14: 26,148,575 (GRCm39) |
V612A |
probably benign |
Het |
Spen |
T |
C |
4: 141,206,605 (GRCm39) |
D674G |
unknown |
Het |
Ssh1 |
T |
C |
5: 114,080,488 (GRCm39) |
T981A |
possibly damaging |
Het |
Sycp2l |
T |
C |
13: 41,316,580 (GRCm39) |
S180P |
probably benign |
Het |
Tdrd7 |
C |
A |
4: 45,990,144 (GRCm39) |
S181R |
probably benign |
Het |
Thada |
T |
C |
17: 84,533,469 (GRCm39) |
N1661D |
probably benign |
Het |
Tsga13 |
C |
A |
6: 30,876,981 (GRCm39) |
D179Y |
possibly damaging |
Het |
Ttf2 |
T |
G |
3: 100,870,478 (GRCm39) |
Q198H |
possibly damaging |
Het |
Ugt2b37 |
T |
G |
5: 87,401,971 (GRCm39) |
Y220S |
probably benign |
Het |
Unc79 |
C |
T |
12: 103,061,235 (GRCm39) |
T1145I |
probably damaging |
Het |
Unc80 |
T |
A |
1: 66,661,621 (GRCm39) |
M1682K |
probably benign |
Het |
Vcp |
A |
G |
4: 42,982,891 (GRCm39) |
S652P |
probably damaging |
Het |
Vmn2r-ps158 |
T |
A |
7: 42,697,310 (GRCm39) |
M789K |
probably damaging |
Het |
Wrnip1 |
T |
A |
13: 33,000,310 (GRCm39) |
L439* |
probably null |
Het |
Zfhx2 |
A |
G |
14: 55,304,207 (GRCm39) |
I1259T |
possibly damaging |
Het |
Zfp369 |
A |
T |
13: 65,439,960 (GRCm39) |
T215S |
probably benign |
Het |
Zfp64 |
A |
T |
2: 168,767,731 (GRCm39) |
V627E |
probably damaging |
Het |
Zfp873 |
T |
C |
10: 81,895,773 (GRCm39) |
I168T |
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 |
|
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 |
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'- ACAAACAGGCTGCCTCCTTC -3'
(R):5'- AGTCTCCATGTGTCACAGTG -3'
Sequencing Primer
(F):5'- CCCTTAGATTCCAAAGTATTGAGACC -3'
(R):5'- GGCCCTTCTAGTCTACAAT -3'
|
Posted On |
2019-10-07 |