Incidental Mutation 'R5847:Adgrg6'
| ID |
453682 |
| 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 |
044065-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5847 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
14278327-14421403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14302521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 964
(Y964F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041168]
[ENSMUST00000208429]
|
| AlphaFold |
Q6F3F9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041168
AA Change: Y936F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116
AA Change: Y936F
| 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: Y964F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.2212 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (62/62) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap3 |
T |
A |
6: 126,842,521 (GRCm39) |
L380Q |
probably damaging |
Het |
| Alpk1 |
A |
G |
3: 127,473,723 (GRCm39) |
I760T |
probably benign |
Het |
| Aoc1l2 |
T |
A |
6: 48,910,412 (GRCm39) |
F701L |
probably damaging |
Het |
| Arhgap20 |
G |
A |
9: 51,736,276 (GRCm39) |
|
probably benign |
Het |
| Cacng3 |
T |
C |
7: 122,361,532 (GRCm39) |
F113S |
possibly damaging |
Het |
| Ccdc158 |
G |
T |
5: 92,775,339 (GRCm39) |
N955K |
probably benign |
Het |
| Ccdc63 |
T |
A |
5: 122,254,908 (GRCm39) |
M368L |
possibly damaging |
Het |
| Cnot2 |
T |
C |
10: 116,363,851 (GRCm39) |
T18A |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 76,950,820 (GRCm39) |
D550E |
possibly damaging |
Het |
| Cyp2c37 |
C |
T |
19: 40,000,176 (GRCm39) |
R433W |
probably damaging |
Het |
| Dact2 |
A |
G |
17: 14,419,450 (GRCm39) |
S103P |
probably damaging |
Het |
| Dek |
A |
G |
13: 47,255,077 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
CAGTTGCTTAAA |
CA |
11: 65,986,066 (GRCm39) |
|
probably null |
Het |
| Dock4 |
A |
G |
12: 40,671,250 (GRCm39) |
Y23C |
probably damaging |
Het |
| Edar |
T |
A |
10: 58,439,001 (GRCm39) |
S344C |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 78,073,270 (GRCm39) |
V2431A |
probably benign |
Het |
| Evc2 |
C |
T |
5: 37,562,068 (GRCm39) |
|
probably benign |
Het |
| Idh3b |
A |
T |
2: 130,125,948 (GRCm39) |
D41E |
probably benign |
Het |
| Igkv8-24 |
A |
T |
6: 70,193,956 (GRCm39) |
V84D |
probably damaging |
Het |
| Iqca1l |
A |
T |
5: 24,749,164 (GRCm39) |
L778Q |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,660,989 (GRCm39) |
I1118T |
probably benign |
Het |
| Mtmr3 |
A |
G |
11: 4,432,925 (GRCm39) |
V1116A |
probably damaging |
Het |
| Myoc |
A |
G |
1: 162,466,936 (GRCm39) |
Y35C |
probably damaging |
Het |
| Ncr1 |
A |
T |
7: 4,347,573 (GRCm39) |
D246V |
probably benign |
Het |
| Nphp3 |
A |
G |
9: 103,880,236 (GRCm39) |
E86G |
probably damaging |
Het |
| Or2l13b |
A |
T |
16: 19,349,076 (GRCm39) |
V198E |
probably damaging |
Het |
| Or52e5 |
A |
T |
7: 104,719,064 (GRCm39) |
Y130F |
probably benign |
Het |
| Or8h7 |
A |
C |
2: 86,720,676 (GRCm39) |
V281G |
probably damaging |
Het |
| Pbld1 |
A |
T |
10: 62,912,193 (GRCm39) |
I275L |
probably benign |
Het |
| Pde12 |
A |
G |
14: 26,386,786 (GRCm39) |
V574A |
possibly damaging |
Het |
| Pdxk |
G |
T |
10: 78,280,872 (GRCm39) |
D189E |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,444,960 (GRCm39) |
E2276* |
probably null |
Het |
| Ppp1r10 |
A |
G |
17: 36,237,739 (GRCm39) |
N237S |
possibly damaging |
Het |
| Rheb |
T |
A |
5: 25,012,067 (GRCm39) |
Y131F |
probably benign |
Het |
| Rpgrip1l |
T |
C |
8: 92,031,613 (GRCm39) |
D88G |
probably damaging |
Het |
| Scgb2b33 |
T |
C |
7: 32,812,239 (GRCm39) |
|
noncoding transcript |
Het |
| Snx9 |
C |
A |
17: 5,974,896 (GRCm39) |
N461K |
possibly damaging |
Het |
| Tbc1d2b |
C |
A |
9: 90,091,777 (GRCm39) |
V842F |
probably damaging |
Het |
| Tgfbi |
G |
A |
13: 56,784,418 (GRCm39) |
E615K |
possibly damaging |
Het |
| Tmem51 |
A |
G |
4: 141,759,346 (GRCm39) |
M134T |
probably damaging |
Het |
| Tox4 |
A |
G |
14: 52,524,241 (GRCm39) |
D125G |
probably damaging |
Het |
| Trappc3 |
A |
T |
4: 126,167,771 (GRCm39) |
N110I |
probably damaging |
Het |
| Trim11 |
T |
A |
11: 58,881,419 (GRCm39) |
D437E |
probably damaging |
Het |
| Ttc23l |
T |
C |
15: 10,537,682 (GRCm39) |
N196S |
probably benign |
Het |
| Wnk1 |
C |
A |
6: 119,969,369 (GRCm39) |
G362V |
probably damaging |
Het |
| Wwc1 |
A |
G |
11: 35,758,153 (GRCm39) |
F731S |
probably damaging |
Het |
| Wwp1 |
A |
T |
4: 19,662,174 (GRCm39) |
D140E |
possibly damaging |
Het |
| Zfp24 |
G |
A |
18: 24,151,095 (GRCm39) |
P17L |
possibly damaging |
Het |
| Zfp354b |
T |
C |
11: 50,814,043 (GRCm39) |
E294G |
probably damaging |
Het |
| Zfp853 |
C |
T |
5: 143,274,424 (GRCm39) |
V399M |
unknown |
Het |
| Zfp868 |
T |
C |
8: 70,064,303 (GRCm39) |
H344R |
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 |
|
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'- TGAGTACTGGTAAGGGTTTCAAAAC -3'
(R):5'- AAGCTGCGCAGGGATTATCC -3'
Sequencing Primer
(F):5'- GTTTCAAAACCACACAGTGCTGG -3'
(R):5'- AATCCTGATGAATCTGAGCTCGGC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation