Incidental Mutation 'R8406:Adgrg6'
| ID |
652429 |
| 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 |
067765-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8406 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
14278327-14421403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14343082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 288
(D288E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043055
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041168]
[ENSMUST00000208429]
|
| AlphaFold |
Q6F3F9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041168
AA Change: D288E
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116
AA Change: D288E
| 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: D288E
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,977,343 (GRCm39) |
F139L |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,068,415 (GRCm39) |
E327G |
|
Het |
| Aipl1 |
T |
A |
11: 71,922,332 (GRCm39) |
M126L |
possibly damaging |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Arl3 |
A |
T |
19: 46,530,823 (GRCm39) |
S157T |
probably benign |
Het |
| Armc3 |
A |
T |
2: 19,240,365 (GRCm39) |
I41F |
probably damaging |
Het |
| Atg9a |
A |
C |
1: 75,167,028 (GRCm39) |
Y8D |
probably damaging |
Het |
| Atp10b |
T |
G |
11: 43,093,984 (GRCm39) |
H509Q |
probably benign |
Het |
| Cabyr |
C |
A |
18: 12,883,804 (GRCm39) |
T97K |
probably benign |
Het |
| Ccdc91 |
T |
C |
6: 147,438,920 (GRCm39) |
F174S |
possibly damaging |
Het |
| Cep350 |
A |
T |
1: 155,798,164 (GRCm39) |
H1207Q |
probably benign |
Het |
| Clstn3 |
A |
T |
6: 124,439,136 (GRCm39) |
N40K |
probably damaging |
Het |
| Col4a4 |
G |
A |
1: 82,501,611 (GRCm39) |
P381S |
unknown |
Het |
| Cpne5 |
A |
T |
17: 29,428,455 (GRCm39) |
F116Y |
probably benign |
Het |
| Csf2rb2 |
T |
C |
15: 78,171,216 (GRCm39) |
T457A |
probably benign |
Het |
| Cyb5d2 |
T |
C |
11: 72,679,959 (GRCm39) |
E112G |
probably benign |
Het |
| Cyp2b13 |
T |
C |
7: 25,781,223 (GRCm39) |
F212L |
probably benign |
Het |
| Dlx6 |
T |
G |
6: 6,863,779 (GRCm39) |
S134A |
probably benign |
Het |
| Egln1 |
A |
G |
8: 125,638,489 (GRCm39) |
Y380H |
probably benign |
Het |
| Fbxl13 |
A |
T |
5: 21,728,652 (GRCm39) |
I479N |
probably damaging |
Het |
| Fhip1a |
G |
T |
3: 85,580,027 (GRCm39) |
P726Q |
probably benign |
Het |
| Fis1 |
A |
G |
5: 136,991,865 (GRCm39) |
K20E |
probably benign |
Het |
| Foxk1 |
G |
T |
5: 142,387,528 (GRCm39) |
V84L |
unknown |
Het |
| Gdf5 |
C |
A |
2: 155,784,272 (GRCm39) |
G227W |
probably damaging |
Het |
| Ghrh |
T |
A |
2: 157,175,656 (GRCm39) |
T13S |
probably benign |
Het |
| Gnb2 |
A |
G |
5: 137,526,865 (GRCm39) |
L308P |
probably damaging |
Het |
| Grik2 |
A |
T |
10: 49,148,863 (GRCm39) |
V574D |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,336,543 (GRCm39) |
I5107F |
possibly damaging |
Het |
| Kl |
A |
T |
5: 150,906,229 (GRCm39) |
Y533F |
probably benign |
Het |
| Man2b1 |
G |
T |
8: 85,822,907 (GRCm39) |
R816L |
probably damaging |
Het |
| Myo5c |
T |
C |
9: 75,182,823 (GRCm39) |
Y821H |
probably damaging |
Het |
| Myo7b |
A |
T |
18: 32,092,866 (GRCm39) |
C2076S |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,436,784 (GRCm39) |
A580T |
possibly damaging |
Het |
| Nectin2 |
A |
T |
7: 19,472,275 (GRCm39) |
V38E |
probably damaging |
Het |
| Or13a24 |
A |
T |
7: 140,154,044 (GRCm39) |
|
probably benign |
Het |
| Osbpl9 |
T |
C |
4: 108,921,770 (GRCm39) |
Y536C |
possibly damaging |
Het |
| Pcdh18 |
T |
G |
3: 49,710,998 (GRCm39) |
I106L |
probably damaging |
Het |
| Pde4dip |
T |
C |
3: 97,606,428 (GRCm39) |
K2149E |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,803,681 (GRCm39) |
C588S |
probably benign |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Pop1 |
T |
C |
15: 34,529,316 (GRCm39) |
M812T |
probably benign |
Het |
| Pou2f3 |
T |
C |
9: 43,051,153 (GRCm39) |
T178A |
probably damaging |
Het |
| Rab44 |
C |
T |
17: 29,359,294 (GRCm39) |
A494V |
unknown |
Het |
| Ros1 |
G |
C |
10: 51,977,941 (GRCm39) |
T1456S |
possibly damaging |
Het |
| Rubcnl |
T |
G |
14: 75,289,425 (GRCm39) |
F644L |
probably damaging |
Het |
| Saraf |
C |
T |
8: 34,632,602 (GRCm39) |
P227L |
probably benign |
Het |
| Sh3glb1 |
T |
G |
3: 144,397,198 (GRCm39) |
E383D |
probably damaging |
Het |
| Sh3rf3 |
T |
C |
10: 58,919,407 (GRCm39) |
V508A |
probably damaging |
Het |
| Sirt6 |
A |
T |
10: 81,458,328 (GRCm39) |
H308Q |
probably benign |
Het |
| Slc29a1 |
T |
A |
17: 45,900,706 (GRCm39) |
I119F |
probably damaging |
Het |
| Smtnl1 |
C |
T |
2: 84,648,742 (GRCm39) |
E171K |
probably benign |
Het |
| Spg11 |
T |
A |
2: 121,923,923 (GRCm39) |
E799D |
probably damaging |
Het |
| Tecpr1 |
A |
T |
5: 144,137,658 (GRCm39) |
W894R |
probably damaging |
Het |
| Tiam2 |
A |
C |
17: 3,558,065 (GRCm39) |
I1230L |
possibly damaging |
Het |
| Tnfrsf8 |
A |
G |
4: 145,019,265 (GRCm39) |
L190P |
probably damaging |
Het |
| Trim35 |
C |
T |
14: 66,534,724 (GRCm39) |
T69M |
possibly damaging |
Het |
| Ttll7 |
T |
C |
3: 146,645,779 (GRCm39) |
Y546H |
probably benign |
Het |
| Ubash3b |
C |
T |
9: 40,940,971 (GRCm39) |
G389R |
probably damaging |
Het |
| Vma21-ps |
C |
T |
4: 52,497,034 (GRCm39) |
V71I |
probably damaging |
Het |
| Vmn1r43 |
T |
A |
6: 89,847,414 (GRCm39) |
H24L |
possibly damaging |
Het |
| Vps37c |
T |
A |
19: 10,687,719 (GRCm39) |
L60Q |
probably damaging |
Het |
| Ythdf2 |
A |
G |
4: 131,931,946 (GRCm39) |
W405R |
probably damaging |
Het |
| Zfp775 |
T |
C |
6: 48,597,637 (GRCm39) |
C504R |
probably damaging |
Het |
| Zfp82 |
A |
G |
7: 29,761,652 (GRCm39) |
|
probably null |
Het |
| Zpr1 |
T |
A |
9: 46,185,400 (GRCm39) |
I127N |
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 |
|
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 |
|
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'- TCTTACCACAGCTCAGGTTGC -3'
(R):5'- ATCTCTGGCTCAAGATGCTTG -3'
Sequencing Primer
(F):5'- ACAGCTCAGGTTGCCCTCG -3'
(R):5'- GCTTGTTGAACAATGCGTTACC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation