Incidental Mutation 'IGL02164:Adgrg6'
ID |
282622 |
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 # |
IGL02164
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
14278327-14421403 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 14399299 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146821
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041168]
[ENSMUST00000208429]
|
AlphaFold |
Q6F3F9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041168
|
SMART Domains |
Protein: ENSMUSP00000043055 Gene: ENSMUSG00000039116
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 |
noncoding transcript
Transcript: ENSMUST00000096020
|
SMART Domains |
Protein: ENSMUSP00000093719 Gene: ENSMUSG00000071532
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L23eN
|
17 |
67 |
2.9e-30 |
PFAM |
Pfam:Ribosomal_L23
|
75 |
148 |
4.5e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208429
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208905
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730480H06Rik |
T |
A |
5: 48,537,524 (GRCm39) |
V187E |
probably benign |
Het |
Abcc12 |
T |
A |
8: 87,254,033 (GRCm39) |
D917V |
probably damaging |
Het |
Abhd15 |
A |
T |
11: 77,406,840 (GRCm39) |
E272D |
probably benign |
Het |
Adat3 |
T |
A |
10: 80,442,461 (GRCm39) |
S100T |
probably benign |
Het |
Alpl |
C |
T |
4: 137,481,290 (GRCm39) |
V121M |
probably damaging |
Het |
Ano1 |
A |
T |
7: 144,190,918 (GRCm39) |
Y388N |
possibly damaging |
Het |
Arrdc4 |
C |
T |
7: 68,389,285 (GRCm39) |
|
probably benign |
Het |
Asxl2 |
A |
G |
12: 3,552,079 (GRCm39) |
M1274V |
probably benign |
Het |
Bmt2 |
G |
T |
6: 13,628,878 (GRCm39) |
N268K |
possibly damaging |
Het |
Bpifb2 |
C |
A |
2: 153,725,482 (GRCm39) |
L176M |
probably damaging |
Het |
Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
Cd14 |
T |
C |
18: 36,858,838 (GRCm39) |
R206G |
possibly damaging |
Het |
Cfap65 |
G |
T |
1: 74,967,304 (GRCm39) |
T215K |
possibly damaging |
Het |
Chd9 |
T |
C |
8: 91,659,849 (GRCm39) |
S270P |
possibly damaging |
Het |
Cidea |
C |
T |
18: 67,499,581 (GRCm39) |
S156L |
probably damaging |
Het |
Col5a3 |
A |
G |
9: 20,703,939 (GRCm39) |
|
probably null |
Het |
Cspg5 |
T |
C |
9: 110,080,104 (GRCm39) |
V424A |
probably damaging |
Het |
Ctc1 |
A |
G |
11: 68,916,922 (GRCm39) |
H272R |
probably damaging |
Het |
D5Ertd579e |
A |
T |
5: 36,772,303 (GRCm39) |
S697R |
probably damaging |
Het |
Dennd3 |
T |
C |
15: 73,416,297 (GRCm39) |
S516P |
probably benign |
Het |
Dipk2b |
T |
A |
X: 18,285,192 (GRCm39) |
R421* |
probably null |
Het |
Dlgap4 |
G |
A |
2: 156,553,059 (GRCm39) |
R509H |
probably damaging |
Het |
Dus3l |
T |
C |
17: 57,074,943 (GRCm39) |
|
probably benign |
Het |
Dync1h1 |
G |
T |
12: 110,628,993 (GRCm39) |
W4183C |
probably damaging |
Het |
Eif2s3x |
A |
T |
X: 93,248,678 (GRCm39) |
M152K |
possibly damaging |
Het |
Epb41l1 |
C |
T |
2: 156,336,869 (GRCm39) |
|
probably benign |
Het |
Ephx2 |
A |
G |
14: 66,341,169 (GRCm39) |
|
probably benign |
Het |
Fabp12 |
T |
A |
3: 10,311,075 (GRCm39) |
Y129F |
probably damaging |
Het |
Fat3 |
A |
G |
9: 15,942,720 (GRCm39) |
|
probably benign |
Het |
Fat4 |
T |
C |
3: 39,050,354 (GRCm39) |
|
probably null |
Het |
Gnb1 |
T |
A |
4: 155,641,631 (GRCm39) |
|
probably null |
Het |
Gpr107 |
C |
A |
2: 31,068,298 (GRCm39) |
Y253* |
probably null |
Het |
Grb10 |
C |
T |
11: 11,893,962 (GRCm39) |
E320K |
probably damaging |
Het |
Gucy2g |
G |
T |
19: 55,226,455 (GRCm39) |
H154N |
probably benign |
Het |
H2bl1 |
T |
C |
13: 99,120,715 (GRCm39) |
K104E |
probably damaging |
Het |
Hemk1 |
T |
A |
9: 107,208,735 (GRCm39) |
H154L |
probably benign |
Het |
Hk2 |
A |
T |
6: 82,720,920 (GRCm39) |
|
probably null |
Het |
Htr5a |
A |
G |
5: 28,047,463 (GRCm39) |
N6S |
probably damaging |
Het |
Htra3 |
T |
C |
5: 35,810,410 (GRCm39) |
D424G |
probably benign |
Het |
Ift52 |
A |
G |
2: 162,867,384 (GRCm39) |
|
probably null |
Het |
Igdcc4 |
A |
G |
9: 65,032,064 (GRCm39) |
|
probably benign |
Het |
Itpr1 |
A |
G |
6: 108,366,444 (GRCm39) |
K124E |
probably benign |
Het |
Kcnc2 |
T |
A |
10: 112,291,590 (GRCm39) |
N259K |
possibly damaging |
Het |
Kics2 |
A |
G |
10: 121,586,675 (GRCm39) |
Y194C |
probably damaging |
Het |
Lmod2 |
A |
T |
6: 24,603,909 (GRCm39) |
I295F |
possibly damaging |
Het |
Lrp1 |
T |
C |
10: 127,399,536 (GRCm39) |
E2324G |
probably benign |
Het |
Lss |
T |
C |
10: 76,372,094 (GRCm39) |
S150P |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,374,065 (GRCm39) |
N1515S |
probably benign |
Het |
Mapk11 |
T |
C |
15: 89,029,651 (GRCm39) |
|
probably null |
Het |
Mc3r |
T |
A |
2: 172,091,314 (GRCm39) |
F179I |
probably damaging |
Het |
Mtmr9 |
T |
A |
14: 63,767,737 (GRCm39) |
N291Y |
probably damaging |
Het |
Myo1h |
T |
C |
5: 114,472,157 (GRCm39) |
F396L |
probably damaging |
Het |
Nek2 |
A |
G |
1: 191,559,416 (GRCm39) |
K307R |
probably benign |
Het |
Or12d2 |
C |
A |
17: 37,624,578 (GRCm39) |
M232I |
probably benign |
Het |
Osmr |
G |
A |
15: 6,871,529 (GRCm39) |
T296I |
probably damaging |
Het |
Pcdhb11 |
T |
G |
18: 37,556,412 (GRCm39) |
S581A |
probably benign |
Het |
Pfkp |
C |
T |
13: 6,647,951 (GRCm39) |
V542M |
probably damaging |
Het |
Pmpca |
C |
T |
2: 26,285,581 (GRCm39) |
S519L |
probably benign |
Het |
Ptgds |
A |
T |
2: 25,359,124 (GRCm39) |
Y44N |
probably damaging |
Het |
Raly |
T |
A |
2: 154,701,849 (GRCm39) |
Y116* |
probably null |
Het |
Rock2 |
A |
G |
12: 17,015,530 (GRCm39) |
D809G |
probably damaging |
Het |
Sgsm2 |
T |
G |
11: 74,756,242 (GRCm39) |
N369T |
possibly damaging |
Het |
Slc6a15 |
A |
G |
10: 103,254,083 (GRCm39) |
D673G |
probably benign |
Het |
Spire2 |
A |
T |
8: 124,059,703 (GRCm39) |
D67V |
probably damaging |
Het |
St7l |
T |
C |
3: 104,829,597 (GRCm39) |
|
probably null |
Het |
Stau2 |
A |
G |
1: 16,416,052 (GRCm39) |
L469P |
probably damaging |
Het |
Tefm |
A |
G |
11: 80,030,915 (GRCm39) |
L107S |
probably damaging |
Het |
Ticam1 |
A |
T |
17: 56,577,019 (GRCm39) |
V692D |
unknown |
Het |
Tipin |
T |
A |
9: 64,201,631 (GRCm39) |
D143E |
probably damaging |
Het |
Tmem132c |
C |
A |
5: 127,613,441 (GRCm39) |
T448K |
probably damaging |
Het |
Trav8-1 |
A |
T |
14: 53,707,213 (GRCm39) |
M1L |
unknown |
Het |
Ttn |
C |
A |
2: 76,569,141 (GRCm39) |
V27251F |
probably damaging |
Het |
Uvrag |
A |
T |
7: 98,653,896 (GRCm39) |
C31* |
probably null |
Het |
Zap70 |
T |
C |
1: 36,810,267 (GRCm39) |
Y126H |
probably damaging |
Het |
Zfp644 |
A |
G |
5: 106,785,965 (GRCm39) |
V194A |
probably benign |
Het |
Zfp663 |
C |
T |
2: 165,200,968 (GRCm39) |
W22* |
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 |
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 |
2015-04-16 |