Incidental Mutation 'R0245:Adgrg6'
| ID |
36181 |
| 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 |
038483-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0245 (G1)
|
| Quality Score |
99 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
14278327-14421403 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 14333810 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 |
probably benign
Transcript: ENSMUST00000208429
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
99% (73/74) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
A |
G |
8: 125,378,168 (GRCm39) |
|
probably benign |
Het |
| Actmap |
T |
A |
7: 26,900,028 (GRCm39) |
C98S |
possibly damaging |
Het |
| Adra2a |
G |
C |
19: 54,035,840 (GRCm39) |
V399L |
probably damaging |
Het |
| Arpc1b |
A |
G |
5: 145,063,670 (GRCm39) |
D306G |
probably damaging |
Het |
| Asic3 |
C |
A |
5: 24,618,836 (GRCm39) |
R43S |
probably damaging |
Het |
| Astn2 |
T |
C |
4: 65,712,795 (GRCm39) |
D615G |
probably damaging |
Het |
| Btbd2 |
A |
T |
10: 80,483,640 (GRCm39) |
Y178N |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,581,415 (GRCm39) |
N1647D |
probably benign |
Het |
| Cacna2d4 |
A |
T |
6: 119,285,682 (GRCm39) |
D803V |
probably damaging |
Het |
| Cdh26 |
C |
T |
2: 178,123,425 (GRCm39) |
R675C |
possibly damaging |
Het |
| Cdx2 |
C |
A |
5: 147,243,283 (GRCm39) |
K170N |
possibly damaging |
Het |
| Cmpk2 |
A |
T |
12: 26,519,517 (GRCm39) |
D56V |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,540,685 (GRCm39) |
Y2563C |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,943,586 (GRCm39) |
D552G |
possibly damaging |
Het |
| E2f7 |
C |
A |
10: 110,610,656 (GRCm39) |
S427* |
probably null |
Het |
| Eps8 |
T |
C |
6: 137,456,126 (GRCm39) |
D785G |
probably benign |
Het |
| Ereg |
G |
A |
5: 91,222,659 (GRCm39) |
C14Y |
possibly damaging |
Het |
| Fah |
A |
C |
7: 84,244,706 (GRCm39) |
H222Q |
probably benign |
Het |
| Fbxw16 |
T |
A |
9: 109,265,236 (GRCm39) |
S432C |
possibly damaging |
Het |
| Fdps |
A |
G |
3: 89,001,078 (GRCm39) |
S334P |
possibly damaging |
Het |
| Fgf7 |
A |
G |
2: 125,877,875 (GRCm39) |
K81E |
probably benign |
Het |
| Gfra1 |
T |
C |
19: 58,288,986 (GRCm39) |
N153S |
possibly damaging |
Het |
| Golga1 |
A |
G |
2: 38,925,271 (GRCm39) |
V351A |
probably benign |
Het |
| Got1 |
A |
T |
19: 43,492,946 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,746,457 (GRCm39) |
Y1271C |
probably damaging |
Het |
| Gtf3c4 |
A |
G |
2: 28,724,976 (GRCm39) |
I252T |
possibly damaging |
Het |
| Gucy1a1 |
A |
G |
3: 82,016,094 (GRCm39) |
I298T |
possibly damaging |
Het |
| Hivep1 |
A |
G |
13: 42,317,766 (GRCm39) |
I2081V |
possibly damaging |
Het |
| Hps3 |
A |
T |
3: 20,066,960 (GRCm39) |
C535* |
probably null |
Het |
| Hspg2 |
T |
C |
4: 137,242,033 (GRCm39) |
F589S |
probably damaging |
Het |
| Itgb8 |
T |
A |
12: 119,154,290 (GRCm39) |
N249I |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,874,992 (GRCm39) |
E314G |
probably damaging |
Het |
| Kdm4a |
T |
C |
4: 118,032,886 (GRCm39) |
D60G |
probably benign |
Het |
| Kng2 |
A |
T |
16: 22,830,931 (GRCm39) |
|
probably benign |
Het |
| Marchf4 |
A |
T |
1: 72,573,940 (GRCm39) |
D119E |
probably benign |
Het |
| Mrpl34 |
T |
C |
8: 71,917,719 (GRCm39) |
|
probably benign |
Het |
| Ncoa6 |
C |
T |
2: 155,233,131 (GRCm39) |
G2059D |
probably benign |
Het |
| Nhsl1 |
A |
G |
10: 18,400,856 (GRCm39) |
K660R |
probably damaging |
Het |
| Nr2c2ap |
T |
C |
8: 70,584,228 (GRCm39) |
V6A |
possibly damaging |
Het |
| Or10j3b |
T |
A |
1: 173,043,524 (GRCm39) |
I102N |
possibly damaging |
Het |
| Or4c29 |
C |
A |
2: 88,740,219 (GRCm39) |
D173Y |
possibly damaging |
Het |
| Or4k52 |
A |
G |
2: 111,610,680 (GRCm39) |
N5S |
probably damaging |
Het |
| Or5k14 |
A |
T |
16: 58,693,229 (GRCm39) |
Y95N |
probably benign |
Het |
| Or7g33 |
C |
A |
9: 19,448,408 (GRCm39) |
V273L |
probably benign |
Het |
| Oscar |
C |
T |
7: 3,614,573 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
T |
C |
1: 20,610,624 (GRCm39) |
S1046G |
probably benign |
Het |
| Ptk6 |
T |
C |
2: 180,844,284 (GRCm39) |
D5G |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,187,424 (GRCm39) |
H486R |
probably benign |
Het |
| Rnf111 |
C |
T |
9: 70,361,113 (GRCm39) |
|
probably benign |
Het |
| Rnf17 |
A |
G |
14: 56,676,066 (GRCm39) |
Y309C |
probably damaging |
Het |
| Rnf19a |
A |
T |
15: 36,253,178 (GRCm39) |
I387N |
probably damaging |
Het |
| Safb |
C |
T |
17: 56,913,025 (GRCm39) |
R914C |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 141,940,713 (GRCm39) |
T494A |
probably benign |
Het |
| Serac1 |
G |
T |
17: 6,102,031 (GRCm39) |
D384E |
probably damaging |
Het |
| Sez6l |
T |
C |
5: 112,623,432 (GRCm39) |
M40V |
probably benign |
Het |
| Slc17a5 |
A |
G |
9: 78,448,206 (GRCm39) |
I416T |
probably benign |
Het |
| Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
| Spata32 |
C |
T |
11: 103,099,921 (GRCm39) |
A195T |
probably damaging |
Het |
| Srrd |
A |
G |
5: 112,485,394 (GRCm39) |
|
probably benign |
Het |
| Srsf3-ps |
T |
A |
11: 98,516,067 (GRCm39) |
|
probably benign |
Het |
| Supt3 |
T |
C |
17: 45,347,662 (GRCm39) |
V208A |
probably benign |
Het |
| Taok3 |
G |
A |
5: 117,390,744 (GRCm39) |
|
probably benign |
Het |
| Tbxas1 |
G |
T |
6: 39,004,702 (GRCm39) |
R316S |
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,114,752 (GRCm39) |
I116N |
possibly damaging |
Het |
| Tm7sf3 |
T |
C |
6: 146,520,107 (GRCm39) |
T260A |
possibly damaging |
Het |
| Top2a |
T |
C |
11: 98,900,922 (GRCm39) |
I556V |
probably benign |
Het |
| Uroc1 |
A |
G |
6: 90,321,179 (GRCm39) |
M252V |
probably damaging |
Het |
| Xpo4 |
G |
T |
14: 57,867,697 (GRCm39) |
H183Q |
probably damaging |
Het |
| Zcchc17 |
T |
A |
4: 130,230,947 (GRCm39) |
I81L |
probably benign |
Het |
| Zfp455 |
A |
T |
13: 67,355,899 (GRCm39) |
Y389F |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGGCGAAATGAACTGTTGTTGAG -3'
(R):5'- TGGCTGAAGCCCAAGAGTTTGAGG -3'
Sequencing Primer
(F):5'- AACTGTTGTTGAGTGCCATTCAC -3'
(R):5'- GCAGTAGACTCTCTGAAGGC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation