Incidental Mutation 'R0388:Adgrg6'
| ID |
31422 |
| 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 |
038594-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0388 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
14278327-14421403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14326402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 410
(I410T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041168]
[ENSMUST00000208429]
|
| AlphaFold |
Q6F3F9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041168
AA Change: I382T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116
AA Change: I382T
| 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: I410T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Meta Mutation Damage Score |
0.0714 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.7%
|
| Validation Efficiency |
100% (67/67) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
| Acsbg1 |
T |
C |
9: 54,516,347 (GRCm39) |
K678R |
probably damaging |
Het |
| Afap1l2 |
A |
C |
19: 56,905,674 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,393,565 (GRCm39) |
Y1242H |
probably damaging |
Het |
| Apoo-ps |
T |
C |
13: 107,551,173 (GRCm39) |
|
noncoding transcript |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Cdh3 |
C |
A |
8: 107,265,761 (GRCm39) |
T268K |
probably damaging |
Het |
| Chd5 |
T |
A |
4: 152,456,101 (GRCm39) |
H923Q |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,854,560 (GRCm39) |
V1967A |
probably benign |
Het |
| Cntn3 |
T |
C |
6: 102,254,277 (GRCm39) |
M222V |
probably damaging |
Het |
| Dcaf17 |
A |
G |
2: 70,908,915 (GRCm39) |
K277R |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,697,779 (GRCm39) |
|
probably benign |
Het |
| Dmpk |
T |
A |
7: 18,818,002 (GRCm39) |
|
probably benign |
Het |
| Dzank1 |
A |
T |
2: 144,318,026 (GRCm39) |
L714Q |
possibly damaging |
Het |
| Efcab3 |
A |
G |
11: 105,000,227 (GRCm39) |
D272G |
possibly damaging |
Het |
| Erbb2 |
G |
C |
11: 98,318,177 (GRCm39) |
R471P |
possibly damaging |
Het |
| Esf1 |
T |
A |
2: 139,962,791 (GRCm39) |
Y760F |
possibly damaging |
Het |
| Fanci |
C |
A |
7: 79,089,378 (GRCm39) |
T938K |
probably benign |
Het |
| Gnai3 |
A |
G |
3: 108,023,073 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,238,469 (GRCm39) |
C319S |
probably damaging |
Het |
| Il12a |
T |
A |
3: 68,602,520 (GRCm39) |
|
probably null |
Het |
| Inpp4a |
A |
G |
1: 37,435,241 (GRCm39) |
D837G |
probably damaging |
Het |
| Kcnj5 |
T |
A |
9: 32,229,159 (GRCm39) |
E13V |
probably damaging |
Het |
| Kcnq3 |
T |
A |
15: 65,871,887 (GRCm39) |
Y594F |
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,582,857 (GRCm39) |
E556G |
probably damaging |
Het |
| Kif28 |
T |
C |
1: 179,567,654 (GRCm39) |
I39V |
possibly damaging |
Het |
| Lgi2 |
T |
C |
5: 52,711,891 (GRCm39) |
E143G |
probably damaging |
Het |
| Mast1 |
T |
G |
8: 85,642,166 (GRCm39) |
I1063L |
probably benign |
Het |
| Med12l |
T |
C |
3: 59,000,925 (GRCm39) |
|
probably benign |
Het |
| Mmp19 |
G |
T |
10: 128,634,752 (GRCm39) |
R456L |
probably benign |
Het |
| Mon1b |
T |
A |
8: 114,365,710 (GRCm39) |
V346E |
probably damaging |
Het |
| Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
| Mrgpra9 |
A |
T |
7: 46,902,542 (GRCm39) |
M1K |
probably null |
Het |
| Mycbp2 |
A |
T |
14: 103,394,103 (GRCm39) |
H2819Q |
probably benign |
Het |
| Nav1 |
A |
C |
1: 135,376,655 (GRCm39) |
|
probably benign |
Het |
| Neurl4 |
T |
C |
11: 69,802,559 (GRCm39) |
|
probably benign |
Het |
| Ntng2 |
G |
C |
2: 29,097,438 (GRCm39) |
P341R |
probably damaging |
Het |
| Oas1d |
A |
T |
5: 121,055,091 (GRCm39) |
Y221F |
probably damaging |
Het |
| Or1j19 |
C |
A |
2: 36,676,874 (GRCm39) |
D112E |
probably benign |
Het |
| Or1l4 |
A |
C |
2: 37,092,196 (GRCm39) |
|
probably null |
Het |
| Or5al6 |
A |
G |
2: 85,976,974 (GRCm39) |
Y35H |
probably damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,108,143 (GRCm39) |
M380V |
probably benign |
Het |
| Pank1 |
T |
C |
19: 34,799,106 (GRCm39) |
|
probably benign |
Het |
| Parn |
T |
C |
16: 13,472,340 (GRCm39) |
D169G |
possibly damaging |
Het |
| Pknox1 |
T |
A |
17: 31,822,166 (GRCm39) |
I311N |
probably damaging |
Het |
| Pprc1 |
T |
C |
19: 46,051,214 (GRCm39) |
V248A |
possibly damaging |
Het |
| Prkcq |
T |
C |
2: 11,259,045 (GRCm39) |
C322R |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,702,928 (GRCm39) |
I1298N |
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,288,046 (GRCm39) |
S36P |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Sass6 |
C |
A |
3: 116,400,957 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
G |
A |
5: 93,099,152 (GRCm39) |
G1463D |
probably benign |
Het |
| Slc35d1 |
A |
T |
4: 103,042,084 (GRCm39) |
Y249* |
probably null |
Het |
| Slc9a3 |
C |
T |
13: 74,269,655 (GRCm39) |
P8S |
unknown |
Het |
| Slc9a9 |
T |
A |
9: 94,821,616 (GRCm39) |
|
probably null |
Het |
| Sting1 |
A |
G |
18: 35,868,164 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
A |
12: 76,033,749 (GRCm39) |
M3666K |
probably benign |
Het |
| Synpo2 |
A |
G |
3: 122,873,546 (GRCm39) |
V1140A |
probably benign |
Het |
| Thada |
A |
G |
17: 84,538,524 (GRCm39) |
F1495L |
probably benign |
Het |
| Timeless |
A |
G |
10: 128,077,294 (GRCm39) |
|
probably null |
Het |
| Tlr6 |
G |
T |
5: 65,112,548 (GRCm39) |
H120N |
possibly damaging |
Het |
| Tns3 |
T |
C |
11: 8,395,703 (GRCm39) |
I1234V |
probably benign |
Het |
| Ttll9 |
A |
G |
2: 152,842,099 (GRCm39) |
S318G |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,830,197 (GRCm39) |
|
probably benign |
Het |
| Zfp933 |
T |
C |
4: 147,910,899 (GRCm39) |
I232M |
probably benign |
Het |
| Zfyve27 |
T |
C |
19: 42,178,024 (GRCm39) |
S382P |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCACAGCCTGCTTTCAATCTGTAAAC -3'
(R):5'- ACTAATCAGGAGCTACTTCTAAGCGGT -3'
Sequencing Primer
(F):5'- acccacagcaaccagaag -3'
(R):5'- GCGCCTGTGTGTCCTTTAATTA -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation