Incidental Mutation 'R6339:Adgrg6'
ID |
513833 |
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 |
044493-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6339 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
14278327-14421403 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 14310091 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 743
(S743R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043055
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041168]
[ENSMUST00000208429]
|
AlphaFold |
Q6F3F9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041168
AA Change: S743R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000043055 Gene: ENSMUSG00000039116 AA Change: S743R
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: S771R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.6329 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 94.1%
|
Validation Efficiency |
97% (69/71) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933424G06Rik |
A |
T |
1: 36,749,542 (GRCm39) |
|
probably benign |
Het |
Ak8 |
A |
G |
2: 28,624,460 (GRCm39) |
|
probably null |
Het |
Alpk2 |
A |
G |
18: 65,482,877 (GRCm39) |
M377T |
probably benign |
Het |
Ap1g1 |
G |
A |
8: 110,571,000 (GRCm39) |
V425I |
possibly damaging |
Het |
Apob |
A |
T |
12: 8,066,188 (GRCm39) |
R4353W |
probably damaging |
Het |
Arhgef38 |
T |
C |
3: 132,839,423 (GRCm39) |
K540R |
probably benign |
Het |
B3galt2 |
A |
T |
1: 143,522,640 (GRCm39) |
T259S |
possibly damaging |
Het |
Btbd8 |
G |
A |
5: 107,651,583 (GRCm39) |
V159I |
probably benign |
Het |
C2cd2l |
T |
C |
9: 44,224,788 (GRCm39) |
|
probably benign |
Het |
Carmil3 |
T |
C |
14: 55,737,306 (GRCm39) |
V763A |
possibly damaging |
Het |
Ccdc171 |
A |
T |
4: 83,661,234 (GRCm39) |
T1115S |
probably damaging |
Het |
Chst2 |
C |
T |
9: 95,287,803 (GRCm39) |
G181D |
probably damaging |
Het |
Col7a1 |
C |
T |
9: 108,785,701 (GRCm39) |
T390M |
unknown |
Het |
Cpt1a |
A |
C |
19: 3,412,152 (GRCm39) |
D208A |
probably benign |
Het |
Crocc2 |
A |
G |
1: 93,141,754 (GRCm39) |
E1183G |
probably benign |
Het |
Defa39 |
G |
A |
8: 22,193,485 (GRCm39) |
S45F |
possibly damaging |
Het |
Dlg5 |
T |
A |
14: 24,208,128 (GRCm39) |
H1003L |
probably damaging |
Het |
Dok2 |
A |
T |
14: 71,013,158 (GRCm39) |
I109L |
probably benign |
Het |
Dpy19l4 |
A |
T |
4: 11,285,111 (GRCm39) |
I465K |
probably damaging |
Het |
Dync1h1 |
A |
T |
12: 110,612,639 (GRCm39) |
D2838V |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,339,644 (GRCm39) |
R646G |
possibly damaging |
Het |
Gcfc2 |
T |
A |
6: 81,923,477 (GRCm39) |
F514I |
probably damaging |
Het |
Gm8104 |
T |
C |
14: 42,958,942 (GRCm39) |
M44T |
probably benign |
Het |
Golph3l |
T |
A |
3: 95,524,750 (GRCm39) |
W334R |
probably damaging |
Het |
Gpr179 |
A |
T |
11: 97,235,002 (GRCm39) |
F443I |
probably damaging |
Het |
Ift172 |
A |
G |
5: 31,413,927 (GRCm39) |
V1467A |
probably benign |
Het |
Ift172 |
A |
T |
5: 31,444,289 (GRCm39) |
D44E |
probably damaging |
Het |
Il1rl1 |
C |
T |
1: 40,501,016 (GRCm39) |
A464V |
possibly damaging |
Het |
Irx5 |
A |
G |
8: 93,086,481 (GRCm39) |
E188G |
probably damaging |
Het |
Jak1 |
A |
G |
4: 101,019,123 (GRCm39) |
V710A |
probably damaging |
Het |
Kcng4 |
A |
T |
8: 120,359,693 (GRCm39) |
F228I |
probably damaging |
Het |
Lifr |
A |
G |
15: 7,196,530 (GRCm39) |
N238S |
probably benign |
Het |
Ltbp3 |
C |
A |
19: 5,797,505 (GRCm39) |
H414Q |
probably damaging |
Het |
Mcpt8 |
A |
G |
14: 56,319,794 (GRCm39) |
C219R |
probably benign |
Het |
Mepce |
A |
T |
5: 137,783,950 (GRCm39) |
N125K |
possibly damaging |
Het |
Mfap3 |
T |
C |
11: 57,420,598 (GRCm39) |
F193S |
probably damaging |
Het |
Miox |
T |
A |
15: 89,219,702 (GRCm39) |
Y63* |
probably null |
Het |
Msl2 |
A |
T |
9: 100,978,949 (GRCm39) |
H441L |
probably benign |
Het |
Nemp2 |
T |
A |
1: 52,680,069 (GRCm39) |
S98T |
possibly damaging |
Het |
Neto2 |
G |
T |
8: 86,367,187 (GRCm39) |
A547E |
probably benign |
Het |
Nol12 |
T |
C |
15: 78,825,033 (GRCm39) |
|
probably benign |
Het |
Npr3 |
T |
C |
15: 11,845,361 (GRCm39) |
I504V |
probably damaging |
Het |
Or4c106 |
A |
G |
2: 88,683,215 (GRCm39) |
D307G |
probably null |
Het |
Pcdhb3 |
T |
C |
18: 37,433,998 (GRCm39) |
|
probably benign |
Het |
Pear1 |
C |
A |
3: 87,659,827 (GRCm39) |
G720W |
probably damaging |
Het |
Pibf1 |
T |
G |
14: 99,344,834 (GRCm39) |
D151E |
probably damaging |
Het |
Pla2g6 |
T |
A |
15: 79,193,016 (GRCm39) |
N217I |
probably damaging |
Het |
Plcd1 |
G |
A |
9: 118,904,059 (GRCm39) |
R292C |
probably damaging |
Het |
Plcl1 |
C |
T |
1: 55,735,474 (GRCm39) |
L272F |
probably damaging |
Het |
Ppp4r4 |
A |
T |
12: 103,571,228 (GRCm39) |
K656* |
probably null |
Het |
Prr22 |
G |
A |
17: 57,078,490 (GRCm39) |
M214I |
probably benign |
Het |
Ror1 |
G |
T |
4: 100,269,128 (GRCm39) |
R322L |
possibly damaging |
Het |
Sh3tc2 |
G |
A |
18: 62,108,642 (GRCm39) |
W244* |
probably null |
Het |
Slamf6 |
A |
G |
1: 171,775,615 (GRCm39) |
N320S |
probably null |
Het |
Slc1a6 |
A |
C |
10: 78,635,919 (GRCm39) |
D328A |
possibly damaging |
Het |
Sorl1 |
G |
T |
9: 41,881,038 (GRCm39) |
T2161K |
probably benign |
Het |
Spata31e2 |
T |
A |
1: 26,721,586 (GRCm39) |
D1198V |
probably benign |
Het |
Sstr2 |
T |
C |
11: 113,515,375 (GRCm39) |
F98S |
probably damaging |
Het |
Stk33 |
A |
T |
7: 108,920,672 (GRCm39) |
D348E |
probably benign |
Het |
Sulf1 |
T |
A |
1: 12,908,664 (GRCm39) |
L559Q |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,035,927 (GRCm39) |
D3738G |
probably benign |
Het |
Taok3 |
A |
T |
5: 117,366,095 (GRCm39) |
Q382L |
probably benign |
Het |
Tet2 |
T |
A |
3: 133,192,178 (GRCm39) |
H752L |
possibly damaging |
Het |
Tia1 |
A |
C |
6: 86,403,638 (GRCm39) |
K285T |
probably damaging |
Het |
Tle3 |
G |
T |
9: 61,309,206 (GRCm39) |
|
probably null |
Het |
Top1mt |
T |
C |
15: 75,537,505 (GRCm39) |
T414A |
possibly damaging |
Het |
Ubc |
A |
T |
5: 125,464,406 (GRCm39) |
I307N |
probably damaging |
Het |
Vmn2r96 |
A |
T |
17: 18,804,124 (GRCm39) |
D266V |
possibly damaging |
Het |
Wbp2nl |
G |
T |
15: 82,183,246 (GRCm39) |
W13C |
possibly damaging |
Het |
Zfp456 |
T |
A |
13: 67,510,483 (GRCm39) |
K102* |
probably null |
Het |
Zkscan1 |
T |
C |
5: 138,091,567 (GRCm39) |
V100A |
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 |
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'- AGCCCATCTCCCTTCTAGAAG -3'
(R):5'- AAACCCTTCAGGAAAGTCAGTG -3'
Sequencing Primer
(F):5'- CCCTTCTAGAAGATGGATGTCATGC -3'
(R):5'- CCTTCAGGAAAGTCAGTGAGTCC -3'
|
Posted On |
2018-04-27 |