Incidental Mutation 'R7337:Adgrg6'
| ID |
569596 |
| 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 |
045427-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7337 (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 G
at 14343095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 284
(V284A)
|
| 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: V284A
PolyPhen 2
Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116
AA Change: V284A
| 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: V284A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.1134 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (88/88) |
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
T |
2: 69,076,113 (GRCm39) |
H1198Q |
probably damaging |
Het |
| Adamts14 |
A |
G |
10: 61,043,239 (GRCm39) |
V743A |
probably damaging |
Het |
| Alb |
A |
G |
5: 90,622,452 (GRCm39) |
K560R |
probably damaging |
Het |
| Aqp9 |
A |
T |
9: 71,069,764 (GRCm39) |
F8L |
probably benign |
Het |
| Arhgef7 |
T |
C |
8: 11,835,789 (GRCm39) |
L182P |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,753,501 (GRCm39) |
D701G |
probably damaging |
Het |
| Calr3 |
C |
T |
8: 73,185,339 (GRCm39) |
D187N |
probably damaging |
Het |
| Ccdc198 |
A |
G |
14: 49,471,948 (GRCm39) |
M163T |
possibly damaging |
Het |
| Ccdc65 |
A |
G |
15: 98,618,977 (GRCm39) |
T319A |
probably benign |
Het |
| Ccdc66 |
A |
T |
14: 27,222,290 (GRCm39) |
L151H |
probably damaging |
Het |
| Ces2e |
T |
A |
8: 105,657,688 (GRCm39) |
|
probably null |
Het |
| Cfap46 |
A |
G |
7: 139,210,492 (GRCm39) |
|
probably null |
Het |
| Cfap74 |
A |
G |
4: 155,544,472 (GRCm39) |
T1034A |
unknown |
Het |
| Cldnd1 |
T |
G |
16: 58,549,322 (GRCm39) |
|
probably null |
Het |
| Clec4f |
C |
A |
6: 83,630,190 (GRCm39) |
V123L |
probably benign |
Het |
| Cntn6 |
C |
T |
6: 104,627,491 (GRCm39) |
T108I |
probably damaging |
Het |
| Crygn |
T |
G |
5: 24,961,147 (GRCm39) |
D53A |
possibly damaging |
Het |
| Cyp27a1 |
T |
A |
1: 74,774,594 (GRCm39) |
V204E |
probably damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,597,708 (GRCm39) |
|
probably null |
Het |
| Ddb1 |
T |
C |
19: 10,605,195 (GRCm39) |
V1061A |
possibly damaging |
Het |
| Dnah12 |
G |
T |
14: 26,488,534 (GRCm39) |
|
probably null |
Het |
| Draxin |
T |
C |
4: 148,197,216 (GRCm39) |
T194A |
probably benign |
Het |
| Drosha |
T |
A |
15: 12,846,285 (GRCm39) |
D473E |
possibly damaging |
Het |
| Ecpas |
T |
C |
4: 58,827,047 (GRCm39) |
T1029A |
possibly damaging |
Het |
| G6pd2 |
T |
A |
5: 61,967,562 (GRCm39) |
C446S |
probably benign |
Het |
| Gm29106 |
C |
T |
1: 118,104,642 (GRCm39) |
S3L |
unknown |
Het |
| Grin3a |
T |
C |
4: 49,702,762 (GRCm39) |
Y908C |
probably damaging |
Het |
| Ints2 |
G |
A |
11: 86,108,668 (GRCm39) |
A893V |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,602,767 (GRCm39) |
T371I |
probably benign |
Het |
| Irf2 |
T |
A |
8: 47,260,316 (GRCm39) |
C83S |
probably damaging |
Het |
| Jph3 |
C |
T |
8: 122,480,441 (GRCm39) |
A373V |
probably benign |
Het |
| Kcnj6 |
C |
T |
16: 94,634,073 (GRCm39) |
V13I |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,640,097 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
A |
T |
14: 102,121,640 (GRCm39) |
Q235L |
probably damaging |
Het |
| Marchf7 |
A |
G |
2: 60,071,189 (GRCm39) |
|
probably null |
Het |
| Mfsd6l |
A |
T |
11: 68,448,109 (GRCm39) |
Y320F |
possibly damaging |
Het |
| Mroh1 |
T |
A |
15: 76,335,676 (GRCm39) |
W1440R |
probably benign |
Het |
| Mrps17 |
G |
A |
5: 129,793,863 (GRCm39) |
G19D |
probably damaging |
Het |
| Myt1 |
A |
G |
2: 181,444,756 (GRCm39) |
H566R |
possibly damaging |
Het |
| Nav2 |
T |
C |
7: 49,201,521 (GRCm39) |
L176P |
possibly damaging |
Het |
| Nop58 |
T |
A |
1: 59,737,599 (GRCm39) |
C139S |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,394,022 (GRCm39) |
D644G |
probably damaging |
Het |
| Nsd2 |
T |
A |
5: 34,042,816 (GRCm39) |
C1027S |
probably damaging |
Het |
| Nsmce2 |
A |
G |
15: 59,473,265 (GRCm39) |
I235V |
probably damaging |
Het |
| Nyap2 |
T |
C |
1: 81,314,230 (GRCm39) |
V642A |
possibly damaging |
Het |
| Or14n1-ps1 |
A |
T |
7: 86,092,328 (GRCm39) |
L46F |
unknown |
Het |
| Or8g51 |
A |
G |
9: 38,609,161 (GRCm39) |
V167A |
probably benign |
Het |
| Paqr7 |
A |
G |
4: 134,234,431 (GRCm39) |
D96G |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,839,852 (GRCm39) |
Y520C |
probably damaging |
Het |
| Pde5a |
A |
G |
3: 122,542,107 (GRCm39) |
N199S |
probably damaging |
Het |
| Piezo1 |
A |
T |
8: 123,212,463 (GRCm39) |
Y1955N |
|
Het |
| Pnma8a |
A |
G |
7: 16,695,315 (GRCm39) |
K390R |
probably benign |
Het |
| Prdm10 |
G |
T |
9: 31,227,537 (GRCm39) |
Q47H |
probably damaging |
Het |
| Psg22 |
T |
A |
7: 18,453,499 (GRCm39) |
F104I |
probably benign |
Het |
| Ptprf |
T |
C |
4: 118,068,322 (GRCm39) |
E1738G |
probably damaging |
Het |
| Rad21l |
A |
T |
2: 151,500,365 (GRCm39) |
L218Q |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,583,024 (GRCm39) |
I798T |
probably damaging |
Het |
| Rgs5 |
G |
T |
1: 169,483,149 (GRCm39) |
M1I |
probably null |
Het |
| Rhbdl2 |
T |
C |
4: 123,711,659 (GRCm39) |
V132A |
possibly damaging |
Het |
| Rmi1 |
T |
A |
13: 58,557,393 (GRCm39) |
Y547* |
probably null |
Het |
| Rptn |
A |
T |
3: 93,304,212 (GRCm39) |
D515V |
probably benign |
Het |
| Rsph10b |
A |
G |
5: 143,898,033 (GRCm39) |
N505D |
probably benign |
Het |
| Samhd1 |
T |
C |
2: 156,948,164 (GRCm39) |
D539G |
probably damaging |
Het |
| Scube3 |
A |
T |
17: 28,387,156 (GRCm39) |
I885F |
probably damaging |
Het |
| Sfmbt1 |
A |
G |
14: 30,506,696 (GRCm39) |
I247V |
possibly damaging |
Het |
| Slc25a21 |
T |
C |
12: 56,904,828 (GRCm39) |
I62V |
probably benign |
Het |
| Slc4a11 |
T |
A |
2: 130,527,452 (GRCm39) |
N648Y |
probably damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,397,448 (GRCm39) |
V88A |
possibly damaging |
Het |
| Slc7a8 |
A |
C |
14: 54,964,263 (GRCm39) |
F397V |
possibly damaging |
Het |
| Sox12 |
A |
C |
2: 152,239,377 (GRCm39) |
L81R |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,915,474 (GRCm39) |
I1057V |
probably benign |
Het |
| St8sia3 |
G |
A |
18: 64,402,987 (GRCm39) |
V265I |
probably benign |
Het |
| Stxbp5 |
A |
G |
10: 9,684,874 (GRCm39) |
S509P |
possibly damaging |
Het |
| Svep1 |
T |
C |
4: 58,108,323 (GRCm39) |
Y1129C |
probably damaging |
Het |
| Tenm4 |
G |
T |
7: 96,523,333 (GRCm39) |
R1625L |
probably benign |
Het |
| Tlr4 |
T |
C |
4: 66,758,191 (GRCm39) |
F328S |
possibly damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,868,164 (GRCm39) |
T215A |
probably benign |
Het |
| Tmprss9 |
A |
T |
10: 80,718,504 (GRCm39) |
I62L |
probably benign |
Het |
| Trpm5 |
C |
T |
7: 142,642,756 (GRCm39) |
A64T |
probably benign |
Het |
| Txk |
A |
C |
5: 72,889,109 (GRCm39) |
Y148* |
probably null |
Het |
| Uba5 |
C |
T |
9: 103,932,454 (GRCm39) |
G170R |
possibly damaging |
Het |
| Uggt2 |
A |
T |
14: 119,323,587 (GRCm39) |
D231E |
probably benign |
Het |
| Ulk4 |
A |
T |
9: 121,077,993 (GRCm39) |
D525E |
probably benign |
Het |
| Vmn1r158 |
T |
A |
7: 22,489,649 (GRCm39) |
T187S |
probably benign |
Het |
| Vmn1r52 |
T |
A |
6: 90,156,605 (GRCm39) |
M303K |
probably benign |
Het |
| Vmn2r54 |
A |
G |
7: 12,356,044 (GRCm39) |
F454S |
probably benign |
Het |
| Zbp1 |
A |
T |
2: 173,060,546 (GRCm39) |
L8* |
probably null |
Het |
| Zmym2 |
A |
T |
14: 57,181,557 (GRCm39) |
D924V |
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 |
|
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'- AGCTTGGGTTGAGATGCTCC -3'
(R):5'- GTCTTGAAAAGGCCAGTAATGG -3'
Sequencing Primer
(F):5'- GAGATGCTCCAAAAGTCATTGTGCC -3'
(R):5'- CTGTCCATCTCTGGCTCAAGATG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation