Incidental Mutation 'R9682:Adgrg6'
| ID |
728636 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9682 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
14278327-14421403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14316128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 536
(N536K)
|
| 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: N536K
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116
AA Change: N536K
| 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: N564K
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,752,507 (GRCm39) |
M493L |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,896,328 (GRCm39) |
I334F |
probably damaging |
Het |
| Acad9 |
C |
T |
3: 36,136,268 (GRCm39) |
A351V |
possibly damaging |
Het |
| Alk |
A |
T |
17: 72,182,058 (GRCm39) |
L1322M |
possibly damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,815,662 (GRCm39) |
V102A |
possibly damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,371,230 (GRCm39) |
N48S |
probably damaging |
Het |
| B3gnt4 |
A |
T |
5: 123,649,516 (GRCm39) |
I294L |
probably benign |
Het |
| Bnip3 |
A |
G |
7: 138,496,445 (GRCm39) |
S88P |
probably damaging |
Het |
| Ccr2 |
A |
G |
9: 123,906,176 (GRCm39) |
Y152C |
probably damaging |
Het |
| Cd28 |
T |
C |
1: 60,804,505 (GRCm39) |
L161P |
probably damaging |
Het |
| Clcn4 |
C |
T |
7: 7,299,797 (GRCm39) |
V11M |
probably benign |
Het |
| Clec4g |
T |
A |
8: 3,757,713 (GRCm39) |
S79C |
unknown |
Het |
| Cux1 |
A |
T |
5: 136,337,116 (GRCm39) |
S799T |
probably benign |
Het |
| Cyp2t4 |
A |
T |
7: 26,857,611 (GRCm39) |
H408L |
probably damaging |
Het |
| Cyp3a41a |
A |
T |
5: 145,652,326 (GRCm39) |
W58R |
possibly damaging |
Het |
| Dicer1 |
A |
G |
12: 104,672,484 (GRCm39) |
V921A |
probably damaging |
Het |
| Dpysl3 |
A |
G |
18: 43,491,313 (GRCm39) |
L268P |
probably damaging |
Het |
| Dus3l |
G |
A |
17: 57,076,770 (GRCm39) |
V626I |
probably benign |
Het |
| Epb41 |
C |
A |
4: 131,655,820 (GRCm39) |
D337Y |
|
Het |
| Fer1l6 |
A |
G |
15: 58,422,113 (GRCm39) |
T104A |
probably benign |
Het |
| Fgd4 |
T |
C |
16: 16,302,202 (GRCm39) |
T118A |
probably benign |
Het |
| Gabra4 |
T |
A |
5: 71,798,415 (GRCm39) |
Y188F |
possibly damaging |
Het |
| Gm28168 |
A |
T |
1: 117,875,824 (GRCm39) |
H151L |
probably damaging |
Het |
| Gm7995 |
A |
G |
14: 42,133,395 (GRCm39) |
I91V |
|
Het |
| Heg1 |
A |
G |
16: 33,541,298 (GRCm39) |
E485G |
probably benign |
Het |
| Hirip3 |
A |
G |
7: 126,462,021 (GRCm39) |
D73G |
probably benign |
Het |
| Igdcc3 |
A |
G |
9: 65,091,332 (GRCm39) |
D684G |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,815,712 (GRCm39) |
E502G |
probably damaging |
Het |
| Lrrc31 |
C |
T |
3: 30,743,423 (GRCm39) |
V181I |
probably damaging |
Het |
| Lrrc7 |
G |
T |
3: 157,882,954 (GRCm39) |
S446R |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,831,526 (GRCm39) |
E1650G |
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,975,419 (GRCm39) |
Y718C |
possibly damaging |
Het |
| Mta1 |
T |
C |
12: 113,095,384 (GRCm39) |
|
probably null |
Het |
| Muc16 |
C |
T |
9: 18,553,874 (GRCm39) |
G4140R |
unknown |
Het |
| Nfe2l1 |
A |
C |
11: 96,710,944 (GRCm39) |
I428M |
probably benign |
Het |
| Nup210l |
T |
A |
3: 90,051,469 (GRCm39) |
Y538N |
possibly damaging |
Het |
| Nxpe4 |
G |
A |
9: 48,304,248 (GRCm39) |
V112M |
probably benign |
Het |
| Or1e16 |
C |
T |
11: 73,286,025 (GRCm39) |
M274I |
probably benign |
Het |
| Or4c112 |
T |
A |
2: 88,854,296 (GRCm39) |
Q17L |
possibly damaging |
Het |
| Or4k40 |
T |
A |
2: 111,250,737 (GRCm39) |
K186N |
probably benign |
Het |
| Or52d3 |
G |
T |
7: 104,229,434 (GRCm39) |
A194S |
probably damaging |
Het |
| Or8g24 |
G |
A |
9: 38,989,874 (GRCm39) |
H56Y |
possibly damaging |
Het |
| Palm |
A |
G |
10: 79,655,039 (GRCm39) |
T266A |
possibly damaging |
Het |
| Pdzph1 |
T |
G |
17: 59,257,262 (GRCm39) |
K925N |
probably damaging |
Het |
| Pfkfb3 |
G |
T |
2: 11,491,058 (GRCm39) |
Q179K |
probably benign |
Het |
| Phtf1 |
A |
G |
3: 103,901,214 (GRCm39) |
Q421R |
possibly damaging |
Het |
| Pip5k1b |
A |
T |
19: 24,356,318 (GRCm39) |
S207T |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,626,790 (GRCm39) |
V324A |
probably damaging |
Het |
| Plcxd1 |
A |
T |
5: 110,251,477 (GRCm39) |
N351I |
probably damaging |
Het |
| Prr14l |
G |
A |
5: 32,988,023 (GRCm39) |
P491S |
probably benign |
Het |
| Rxfp2 |
A |
T |
5: 149,966,564 (GRCm39) |
R101* |
probably null |
Het |
| Saxo2 |
T |
G |
7: 82,292,881 (GRCm39) |
K72T |
probably benign |
Het |
| Sema3b |
T |
A |
9: 107,481,013 (GRCm39) |
D108V |
probably damaging |
Het |
| Sh3gl2 |
A |
G |
4: 85,295,748 (GRCm39) |
D150G |
probably damaging |
Het |
| Slc6a12 |
G |
A |
6: 121,340,704 (GRCm39) |
M544I |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,646,981 (GRCm39) |
|
probably null |
Het |
| Stat3 |
A |
G |
11: 100,785,593 (GRCm39) |
F512L |
probably benign |
Het |
| Stk39 |
A |
G |
2: 68,196,449 (GRCm39) |
S327P |
probably damaging |
Het |
| Tjp3 |
C |
T |
10: 81,109,645 (GRCm39) |
E853K |
probably benign |
Het |
| Tmem30c |
A |
T |
16: 57,111,180 (GRCm39) |
S31T |
probably benign |
Het |
| Tpte |
A |
T |
8: 22,841,493 (GRCm39) |
D495V |
probably damaging |
Het |
| Ugt2b5 |
A |
T |
5: 87,287,522 (GRCm39) |
M215K |
probably damaging |
Het |
| Vinac1 |
T |
C |
2: 128,875,529 (GRCm39) |
S1246G |
unknown |
Het |
| Vsig2 |
T |
C |
9: 37,451,771 (GRCm39) |
L135S |
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 |
|
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 |
|
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'- ACGTGAAAGATTCATTTGCCTGAG -3'
(R):5'- AGGATGTAGCCGGAACTTCC -3'
Sequencing Primer
(F):5'- TTCACTCTGTCCTTGGGA -3'
(R):5'- GAACTTCCCTTCGAGAGTGCAAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation