Incidental Mutation 'IGL01011:Adgrg6'
| ID |
53797 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Adgrg6
|
| Ensembl Gene |
ENSMUSG00000039116 |
| Gene Name |
adhesion G protein-coupled receptor G6 |
| Synonyms |
1190004A11Rik, DREG, LOC215798, Gpr126 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01011
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
14278327-14421403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 14285542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 1148
(I1148S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041168]
[ENSMUST00000208429]
|
| AlphaFold |
Q6F3F9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041168
AA Change: I1120S
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116
AA Change: I1120S
| 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: I1148S
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| Coding Region Coverage |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,165,529 (GRCm39) |
C282S |
probably damaging |
Het |
| Abca12 |
T |
C |
1: 71,302,791 (GRCm39) |
I2143V |
probably benign |
Het |
| Aox4 |
C |
T |
1: 58,279,934 (GRCm39) |
R517* |
probably null |
Het |
| Arnt2 |
T |
A |
7: 83,935,037 (GRCm39) |
D289V |
probably benign |
Het |
| Atad2b |
A |
G |
12: 5,015,984 (GRCm39) |
N570S |
probably benign |
Het |
| Aven |
G |
A |
2: 112,460,130 (GRCm39) |
D208N |
possibly damaging |
Het |
| Bcl9l |
A |
G |
9: 44,416,476 (GRCm39) |
D183G |
possibly damaging |
Het |
| Cd300lf |
A |
G |
11: 115,015,159 (GRCm39) |
S144P |
probably benign |
Het |
| Chd8 |
C |
A |
14: 52,468,989 (GRCm39) |
G543V |
possibly damaging |
Het |
| Chrm2 |
A |
G |
6: 36,501,373 (GRCm39) |
N410S |
probably benign |
Het |
| Clip4 |
A |
G |
17: 72,156,934 (GRCm39) |
I590V |
probably benign |
Het |
| Cnbp |
C |
T |
6: 87,822,682 (GRCm39) |
R27H |
probably benign |
Het |
| Col4a3 |
T |
C |
1: 82,660,022 (GRCm39) |
V889A |
unknown |
Het |
| Cxcl5 |
T |
C |
5: 90,908,382 (GRCm39) |
|
probably benign |
Het |
| Dennd6a |
G |
T |
14: 26,324,209 (GRCm39) |
V171F |
probably damaging |
Het |
| Dhx38 |
T |
C |
8: 110,289,323 (GRCm39) |
I26V |
probably benign |
Het |
| Dscaml1 |
A |
G |
9: 45,594,970 (GRCm39) |
D691G |
possibly damaging |
Het |
| Etfdh |
A |
T |
3: 79,519,368 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
G |
A |
18: 58,228,312 (GRCm39) |
|
probably benign |
Het |
| Foxp2 |
T |
A |
6: 15,438,018 (GRCm39) |
*715R |
probably null |
Het |
| Ftl1 |
A |
T |
7: 45,108,070 (GRCm39) |
D65E |
probably benign |
Het |
| Galm |
A |
G |
17: 80,490,709 (GRCm39) |
T289A |
probably benign |
Het |
| Gm20721 |
A |
G |
2: 174,187,531 (GRCm39) |
D1049G |
probably damaging |
Het |
| Gm28778 |
T |
C |
1: 53,338,277 (GRCm39) |
V47A |
probably benign |
Het |
| Gm5414 |
T |
C |
15: 101,536,569 (GRCm39) |
S19G |
probably benign |
Het |
| H1f6 |
C |
T |
13: 23,880,032 (GRCm39) |
L62F |
probably damaging |
Het |
| Hdac7 |
T |
A |
15: 97,691,816 (GRCm39) |
E835D |
possibly damaging |
Het |
| Hspg2 |
C |
T |
4: 137,286,646 (GRCm39) |
T3663I |
probably damaging |
Het |
| Kdm4d |
A |
T |
9: 14,375,515 (GRCm39) |
D114E |
probably benign |
Het |
| Kif5a |
A |
T |
10: 127,075,065 (GRCm39) |
V516E |
probably benign |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,218 (GRCm39) |
|
probably null |
Het |
| Miga1 |
G |
T |
3: 151,982,327 (GRCm39) |
T519K |
probably benign |
Het |
| Mtfr1l |
G |
A |
4: 134,256,511 (GRCm39) |
P182S |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,367,818 (GRCm39) |
I193V |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,223,871 (GRCm39) |
|
probably benign |
Het |
| Or13a26 |
A |
T |
7: 140,284,350 (GRCm39) |
Y62F |
probably damaging |
Het |
| Or1e1c |
A |
T |
11: 73,265,833 (GRCm39) |
Q86L |
probably benign |
Het |
| Or5h22 |
T |
A |
16: 58,894,793 (GRCm39) |
T217S |
probably benign |
Het |
| Pias1 |
T |
C |
9: 62,820,137 (GRCm39) |
T277A |
probably benign |
Het |
| Skic3 |
G |
A |
13: 76,270,784 (GRCm39) |
C127Y |
probably damaging |
Het |
| Slamf6 |
T |
A |
1: 171,765,666 (GRCm39) |
H263Q |
probably benign |
Het |
| Snrnp48 |
A |
G |
13: 38,404,740 (GRCm39) |
D202G |
probably damaging |
Het |
| Snx13 |
T |
A |
12: 35,148,279 (GRCm39) |
D269E |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,465,303 (GRCm39) |
D344V |
probably benign |
Het |
| Tmem62 |
G |
T |
2: 120,809,700 (GRCm39) |
K127N |
possibly damaging |
Het |
| Trav15-1-dv6-1 |
C |
T |
14: 53,797,492 (GRCm39) |
T46I |
possibly damaging |
Het |
| Trav16d-dv11 |
C |
T |
14: 53,285,041 (GRCm39) |
T39M |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,736,575 (GRCm39) |
D2794G |
probably damaging |
Het |
| Trpc7 |
C |
T |
13: 56,952,353 (GRCm39) |
G551D |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,644,634 (GRCm39) |
V11294A |
possibly damaging |
Het |
| Ubap2 |
G |
A |
4: 41,195,328 (GRCm39) |
|
probably benign |
Het |
| Ubap2l |
G |
A |
3: 89,916,563 (GRCm39) |
Q915* |
probably null |
Het |
| Ubfd1 |
A |
G |
7: 121,677,695 (GRCm39) |
E340G |
probably benign |
Het |
| Vil1 |
T |
C |
1: 74,474,046 (GRCm39) |
|
probably null |
Het |
| Vmn1r6 |
T |
G |
6: 56,979,529 (GRCm39) |
L42V |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,834,237 (GRCm39) |
T1635A |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,520,226 (GRCm39) |
H449Q |
probably benign |
Het |
| Zfp750 |
A |
T |
11: 121,403,922 (GRCm39) |
S318T |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2013-06-28 |
Incidental Mutation