Incidental Mutation 'R7558:Adgrg6'
ID |
584890 |
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 |
045625-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7558 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
14278327-14421403 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 14307351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 817
(M817K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043055
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041168]
[ENSMUST00000208429]
|
AlphaFold |
Q6F3F9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041168
AA Change: M817K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043055 Gene: ENSMUSG00000039116 AA Change: M817K
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 damaging
Transcript: ENSMUST00000208429
AA Change: M845K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.7296 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
98% (56/57) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
G |
T |
11: 23,466,285 (GRCm39) |
|
probably null |
Het |
Adh6b |
T |
A |
3: 138,058,297 (GRCm39) |
D53E |
probably benign |
Het |
Ap3d1 |
A |
G |
10: 80,558,755 (GRCm39) |
V283A |
possibly damaging |
Het |
Arhgap21 |
A |
G |
2: 20,860,421 (GRCm39) |
Y1329H |
probably damaging |
Het |
B3gnt9 |
T |
C |
8: 105,981,304 (GRCm39) |
Y28C |
probably benign |
Het |
Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
Chrd |
T |
A |
16: 20,557,304 (GRCm39) |
V641E |
probably damaging |
Het |
Clvs2 |
A |
T |
10: 33,419,460 (GRCm39) |
I198N |
probably damaging |
Het |
Cplane1 |
C |
T |
15: 8,254,851 (GRCm39) |
R13C |
unknown |
Het |
Dbndd2 |
T |
C |
2: 164,332,136 (GRCm39) |
S120P |
probably benign |
Het |
Dsg2 |
G |
A |
18: 20,727,291 (GRCm39) |
V613I |
probably benign |
Het |
Dsp |
A |
G |
13: 38,352,742 (GRCm39) |
M207V |
probably benign |
Het |
Fignl2 |
T |
C |
15: 100,952,264 (GRCm39) |
E6G |
probably damaging |
Het |
Fmod |
A |
G |
1: 133,968,731 (GRCm39) |
Y257C |
probably benign |
Het |
Foxk2 |
T |
C |
11: 121,178,884 (GRCm39) |
S239P |
probably benign |
Het |
Fstl5 |
C |
T |
3: 76,337,092 (GRCm39) |
T217I |
possibly damaging |
Het |
Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
Gm45140 |
G |
A |
6: 87,798,511 (GRCm39) |
S34F |
|
Het |
H2-Q6 |
A |
G |
17: 35,644,595 (GRCm39) |
E128G |
probably benign |
Het |
Hmmr |
A |
G |
11: 40,624,156 (GRCm39) |
F11L |
probably damaging |
Het |
Igfbpl1 |
G |
T |
4: 45,813,497 (GRCm39) |
N239K |
probably damaging |
Het |
Itpr2 |
G |
T |
6: 146,292,363 (GRCm39) |
D443E |
probably damaging |
Het |
Kcnt2 |
A |
T |
1: 140,450,928 (GRCm39) |
I736F |
probably damaging |
Het |
Kctd11 |
A |
T |
11: 69,770,416 (GRCm39) |
H207Q |
probably benign |
Het |
Kif16b |
A |
T |
2: 142,600,746 (GRCm39) |
D462E |
probably damaging |
Het |
Kif5a |
G |
A |
10: 127,083,948 (GRCm39) |
T81I |
probably damaging |
Het |
Lemd2 |
C |
A |
17: 27,423,137 (GRCm39) |
A86S |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,231,948 (GRCm39) |
D1174G |
|
Het |
Lrrc8b |
G |
T |
5: 105,629,577 (GRCm39) |
W641L |
probably damaging |
Het |
Malt1 |
T |
C |
18: 65,595,905 (GRCm39) |
C438R |
probably damaging |
Het |
Marchf8 |
T |
C |
6: 116,380,526 (GRCm39) |
F126L |
possibly damaging |
Het |
Nalcn |
C |
A |
14: 123,723,797 (GRCm39) |
|
probably null |
Het |
Nyap2 |
A |
T |
1: 81,247,088 (GRCm39) |
T679S |
probably benign |
Het |
Or52n4b |
C |
G |
7: 108,143,928 (GRCm39) |
Y65* |
probably null |
Het |
Or5b3 |
T |
A |
19: 13,388,355 (GRCm39) |
C141S |
probably damaging |
Het |
Otog |
C |
A |
7: 45,952,584 (GRCm39) |
P419Q |
probably damaging |
Het |
Pabpc4 |
T |
G |
4: 123,188,413 (GRCm39) |
S341A |
possibly damaging |
Het |
Pikfyve |
T |
A |
1: 65,311,782 (GRCm39) |
H2006Q |
probably benign |
Het |
Ppp2r5e |
A |
T |
12: 75,511,766 (GRCm39) |
V319D |
probably damaging |
Het |
Ptk2b |
T |
C |
14: 66,391,628 (GRCm39) |
S969G |
possibly damaging |
Het |
Rasal2 |
G |
A |
1: 157,003,406 (GRCm39) |
R436C |
probably damaging |
Het |
Rpap1 |
A |
T |
2: 119,601,735 (GRCm39) |
F742I |
probably benign |
Het |
Ryr2 |
G |
A |
13: 11,814,711 (GRCm39) |
T687M |
probably damaging |
Het |
Sec16a |
A |
T |
2: 26,329,746 (GRCm39) |
F7L |
|
Het |
Slc14a2 |
A |
G |
18: 78,235,334 (GRCm39) |
I143T |
probably benign |
Het |
Slc22a26 |
T |
A |
19: 7,762,651 (GRCm39) |
M430L |
possibly damaging |
Het |
Smarcc1 |
C |
A |
9: 109,976,184 (GRCm39) |
T157K |
probably damaging |
Het |
Tmem87a |
A |
G |
2: 120,204,991 (GRCm39) |
I375T |
probably benign |
Het |
Tmprss15 |
T |
C |
16: 78,800,302 (GRCm39) |
I609V |
possibly damaging |
Het |
Tnk2 |
C |
A |
16: 32,498,903 (GRCm39) |
Q739K |
probably benign |
Het |
Trio |
T |
A |
15: 27,831,480 (GRCm39) |
I1340F |
possibly damaging |
Het |
Trpm6 |
T |
C |
19: 18,756,029 (GRCm39) |
F91L |
probably damaging |
Het |
Vax1 |
T |
C |
19: 59,158,416 (GRCm39) |
T16A |
unknown |
Het |
Vps13d |
T |
G |
4: 144,881,150 (GRCm39) |
H1481P |
|
Het |
Zbtb7a |
A |
G |
10: 80,984,269 (GRCm39) |
*570W |
probably null |
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 |
R7470:Adgrg6
|
UTSW |
10 |
14,319,810 (GRCm39) |
missense |
probably benign |
|
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'- TAAATCCTCTGCTAAGCGGATGC -3'
(R):5'- TGCATCTCGGTCACCACAAG -3'
Sequencing Primer
(F):5'- CTTCTTTATGACTCACGATGCAGGG -3'
(R):5'- AGAACGATGCCCATATTACGG -3'
|
Posted On |
2019-10-17 |