Incidental Mutation 'R1599:Adgrg6'
| ID |
176050 |
| 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 |
039636-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1599 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
14278327-14421403 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 14343057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 297
(R297*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041168]
[ENSMUST00000208429]
|
| AlphaFold |
Q6F3F9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000041168
AA Change: R297*
|
| SMART Domains |
Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116
AA Change: R297*
| 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 null
Transcript: ENSMUST00000208429
AA Change: R297*
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.9%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,197,033 (GRCm39) |
E202G |
probably damaging |
Het |
| Adam23 |
A |
G |
1: 63,610,092 (GRCm39) |
D698G |
possibly damaging |
Het |
| Adam3 |
T |
C |
8: 25,215,377 (GRCm39) |
D20G |
possibly damaging |
Het |
| Adamts12 |
T |
C |
15: 11,071,797 (GRCm39) |
S114P |
probably damaging |
Het |
| Ahdc1 |
A |
T |
4: 132,792,247 (GRCm39) |
S1163C |
possibly damaging |
Het |
| Axl |
A |
G |
7: 25,463,394 (GRCm39) |
Y619H |
probably damaging |
Het |
| Bcl11a |
G |
T |
11: 24,113,887 (GRCm39) |
C410F |
probably damaging |
Het |
| Brca2 |
C |
A |
5: 150,472,178 (GRCm39) |
S2359* |
probably null |
Het |
| Calca |
A |
G |
7: 114,233,707 (GRCm39) |
S75P |
probably damaging |
Het |
| Ccn2 |
A |
T |
10: 24,473,297 (GRCm39) |
R279W |
probably benign |
Het |
| Ccpg1 |
T |
A |
9: 72,906,407 (GRCm39) |
Y54* |
probably null |
Het |
| Cfap161 |
A |
T |
7: 83,425,287 (GRCm39) |
M268K |
possibly damaging |
Het |
| Cfap61 |
T |
A |
2: 145,854,083 (GRCm39) |
V365E |
probably benign |
Het |
| Cgnl1 |
T |
C |
9: 71,548,709 (GRCm39) |
I1000V |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,122,799 (GRCm39) |
D978E |
probably benign |
Het |
| Cyth1 |
G |
A |
11: 118,068,047 (GRCm39) |
T297M |
probably damaging |
Het |
| Dennd1b |
T |
G |
1: 139,095,468 (GRCm39) |
D505E |
probably benign |
Het |
| Dgkd |
A |
G |
1: 87,809,608 (GRCm39) |
T99A |
possibly damaging |
Het |
| Fam161a |
A |
T |
11: 22,971,093 (GRCm39) |
M180L |
probably benign |
Het |
| Gar1 |
G |
T |
3: 129,624,253 (GRCm39) |
R80S |
probably benign |
Het |
| Gm28042 |
T |
C |
2: 119,866,944 (GRCm39) |
S419P |
probably benign |
Het |
| Gm5591 |
A |
C |
7: 38,219,794 (GRCm39) |
C360G |
probably benign |
Het |
| Golga2 |
A |
G |
2: 32,193,185 (GRCm39) |
H427R |
probably benign |
Het |
| Gpt2 |
A |
G |
8: 86,238,863 (GRCm39) |
Y232C |
probably damaging |
Het |
| Hnrnpll |
T |
A |
17: 80,361,054 (GRCm39) |
H118L |
unknown |
Het |
| Ice2 |
T |
A |
9: 69,318,724 (GRCm39) |
C303S |
probably null |
Het |
| Ikzf3 |
C |
A |
11: 98,357,919 (GRCm39) |
G473C |
probably damaging |
Het |
| Kansl3 |
A |
T |
1: 36,406,951 (GRCm39) |
D38E |
probably damaging |
Het |
| Kcna6 |
A |
T |
6: 126,716,282 (GRCm39) |
D202E |
probably benign |
Het |
| Klhl21 |
G |
A |
4: 152,096,757 (GRCm39) |
G341D |
probably damaging |
Het |
| Klhl29 |
A |
T |
12: 5,143,538 (GRCm39) |
V497D |
probably damaging |
Het |
| Kmt2b |
G |
A |
7: 30,270,000 (GRCm39) |
L2449F |
probably damaging |
Het |
| Kmt5c |
A |
G |
7: 4,744,899 (GRCm39) |
E10G |
probably damaging |
Het |
| Lama3 |
C |
T |
18: 12,583,457 (GRCm39) |
Q682* |
probably null |
Het |
| Lamb3 |
T |
C |
1: 193,002,801 (GRCm39) |
V82A |
probably damaging |
Het |
| Larp4b |
C |
T |
13: 9,172,186 (GRCm39) |
T2I |
probably damaging |
Het |
| Man2a1 |
T |
C |
17: 64,986,826 (GRCm39) |
Y613H |
possibly damaging |
Het |
| Mcm3 |
G |
A |
1: 20,890,422 (GRCm39) |
T4I |
probably benign |
Het |
| Mki67 |
C |
T |
7: 135,301,663 (GRCm39) |
A1124T |
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,315,143 (GRCm39) |
L348I |
probably damaging |
Het |
| Mmrn1 |
G |
A |
6: 60,922,021 (GRCm39) |
M159I |
probably benign |
Het |
| Muc5ac |
A |
T |
7: 141,352,640 (GRCm39) |
Q709L |
possibly damaging |
Het |
| Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
| Nosip |
A |
G |
7: 44,723,430 (GRCm39) |
N32S |
probably benign |
Het |
| Npat |
T |
C |
9: 53,473,704 (GRCm39) |
Y499H |
possibly damaging |
Het |
| Nt5c1b |
T |
A |
12: 10,440,024 (GRCm39) |
I522N |
probably damaging |
Het |
| Or1j18 |
G |
T |
2: 36,625,001 (GRCm39) |
V223F |
probably benign |
Het |
| Or2r3 |
T |
A |
6: 42,448,176 (GRCm39) |
K312M |
probably damaging |
Het |
| Or52d3 |
A |
G |
7: 104,228,855 (GRCm39) |
M1V |
probably null |
Het |
| Or7g32 |
T |
A |
9: 19,389,517 (GRCm39) |
T7S |
probably damaging |
Het |
| Pappa2 |
A |
G |
1: 158,684,742 (GRCm39) |
F799S |
probably damaging |
Het |
| Pate5 |
T |
C |
9: 35,750,333 (GRCm39) |
N113S |
probably benign |
Het |
| Pcdha1 |
C |
T |
18: 37,318,290 (GRCm39) |
T941M |
probably damaging |
Het |
| Pilrb2 |
A |
T |
5: 137,866,859 (GRCm39) |
F215I |
possibly damaging |
Het |
| Pkd1l3 |
G |
T |
8: 110,363,016 (GRCm39) |
M1092I |
probably benign |
Het |
| Ppp1r21 |
G |
T |
17: 88,880,055 (GRCm39) |
V491L |
probably benign |
Het |
| Prickle2 |
T |
C |
6: 92,387,855 (GRCm39) |
T516A |
probably benign |
Het |
| Prr27 |
G |
T |
5: 87,991,084 (GRCm39) |
R232L |
probably benign |
Het |
| Rab3gap2 |
C |
T |
1: 184,983,223 (GRCm39) |
T454I |
probably benign |
Het |
| Rgs11 |
C |
A |
17: 26,427,223 (GRCm39) |
H385N |
probably damaging |
Het |
| S1pr5 |
T |
A |
9: 21,155,230 (GRCm39) |
T399S |
probably benign |
Het |
| Sacs |
G |
A |
14: 61,441,087 (GRCm39) |
M1044I |
probably benign |
Het |
| Sec31b |
T |
A |
19: 44,511,592 (GRCm39) |
Q603L |
possibly damaging |
Het |
| Setx |
G |
A |
2: 29,030,385 (GRCm39) |
E275K |
probably benign |
Het |
| Sh3tc1 |
G |
A |
5: 35,864,856 (GRCm39) |
P444S |
probably benign |
Het |
| Shoc1 |
A |
T |
4: 59,072,349 (GRCm39) |
N622K |
possibly damaging |
Het |
| Strn3 |
T |
A |
12: 51,699,549 (GRCm39) |
N208Y |
possibly damaging |
Het |
| Tmem87a |
T |
C |
2: 120,224,868 (GRCm39) |
N131S |
probably damaging |
Het |
| Tmprss13 |
T |
A |
9: 45,249,616 (GRCm39) |
W318R |
probably damaging |
Het |
| Trabd2b |
T |
C |
4: 114,266,178 (GRCm39) |
V64A |
probably damaging |
Het |
| Trafd1 |
A |
T |
5: 121,517,720 (GRCm39) |
N24K |
probably damaging |
Het |
| Ttc41 |
T |
C |
10: 86,612,437 (GRCm39) |
S1237P |
probably benign |
Het |
| Ttll1 |
A |
G |
15: 83,381,555 (GRCm39) |
V238A |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,565,537 (GRCm39) |
S492P |
probably benign |
Het |
| Zic1 |
T |
C |
9: 91,243,741 (GRCm39) |
I409V |
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 |
|
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'- AAGTCTTACCACAGCTCAGGTTGC -3'
(R):5'- AGCTTTCTCCTACTCAGACGAGTCC -3'
Sequencing Primer
(F):5'- TGCCCTCGGCTTTCAGAG -3'
(R):5'- AGGCCAGTAATGGCTACTTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation