Incidental Mutation 'R9764:Adgrg6'
| ID |
733153 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9764 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
14278327-14421403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14302515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 938
(H938L)
|
| 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: H938L
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116
AA Change: H938L
| 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: H966L
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029F12Rik |
T |
C |
13: 97,166,738 (GRCm39) |
T93A |
unknown |
Het |
| Aff1 |
A |
G |
5: 103,997,365 (GRCm39) |
Y1153C |
probably damaging |
Het |
| Akr1c20 |
T |
A |
13: 4,564,388 (GRCm39) |
I42L |
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,082,064 (GRCm39) |
N1324K |
probably benign |
Het |
| Aurka |
T |
A |
2: 172,201,760 (GRCm39) |
I270F |
probably damaging |
Het |
| Camk2g |
A |
T |
14: 20,815,498 (GRCm39) |
D189E |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,804,299 (GRCm39) |
D942G |
unknown |
Het |
| Ccnd1 |
A |
C |
7: 144,491,770 (GRCm39) |
S90A |
probably benign |
Het |
| Cfap77 |
G |
T |
2: 28,852,741 (GRCm39) |
T177K |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,721,220 (GRCm39) |
N1003D |
unknown |
Het |
| Chga |
C |
G |
12: 102,525,613 (GRCm39) |
Q85E |
possibly damaging |
Het |
| Cnot1 |
T |
C |
8: 96,496,209 (GRCm39) |
S322G |
probably benign |
Het |
| Cyp8b1 |
C |
A |
9: 121,744,294 (GRCm39) |
S346I |
probably benign |
Het |
| Cysltr2 |
T |
A |
14: 73,266,906 (GRCm39) |
H268L |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 117,884,704 (GRCm39) |
T3783A |
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,959,713 (GRCm39) |
V109I |
probably benign |
Het |
| Dscc1 |
A |
G |
15: 54,953,674 (GRCm39) |
C50R |
probably benign |
Het |
| Dtx3l |
T |
A |
16: 35,753,277 (GRCm39) |
D443V |
probably damaging |
Het |
| Ephb6 |
A |
G |
6: 41,592,911 (GRCm39) |
H383R |
probably benign |
Het |
| Fdft1 |
A |
G |
14: 63,400,869 (GRCm39) |
I88T |
probably damaging |
Het |
| Fmo3 |
C |
A |
1: 162,794,524 (GRCm39) |
W182L |
probably benign |
Het |
| Folh1 |
T |
A |
7: 86,406,158 (GRCm39) |
Q305L |
probably benign |
Het |
| Gale |
C |
T |
4: 135,692,975 (GRCm39) |
Q73* |
probably null |
Het |
| Gm9195 |
T |
C |
14: 72,699,885 (GRCm39) |
M1154V |
unknown |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Gtsf1l |
T |
C |
2: 162,929,052 (GRCm39) |
T144A |
probably benign |
Het |
| Itpkc |
T |
C |
7: 26,927,222 (GRCm39) |
T231A |
probably benign |
Het |
| Kng2 |
C |
A |
16: 22,822,737 (GRCm39) |
C205F |
probably damaging |
Het |
| Ldlrap1 |
T |
G |
4: 134,476,661 (GRCm39) |
N244T |
probably benign |
Het |
| Lingo2 |
A |
G |
4: 35,709,750 (GRCm39) |
F77L |
possibly damaging |
Het |
| Lpcat2b |
A |
T |
5: 107,581,438 (GRCm39) |
T256S |
possibly damaging |
Het |
| Lrit2 |
A |
G |
14: 36,790,936 (GRCm39) |
D205G |
probably damaging |
Het |
| Lrrc34 |
T |
C |
3: 30,697,467 (GRCm39) |
D88G |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,366,136 (GRCm39) |
E2875G |
probably benign |
Het |
| Med13 |
G |
T |
11: 86,177,345 (GRCm39) |
Q1584K |
possibly damaging |
Het |
| Naip5 |
C |
G |
13: 100,367,269 (GRCm39) |
A276P |
probably damaging |
Het |
| Ndufv2 |
A |
G |
17: 66,394,503 (GRCm39) |
Y121H |
probably damaging |
Het |
| Or4f52 |
T |
A |
2: 111,061,521 (GRCm39) |
I206F |
probably damaging |
Het |
| Peg12 |
T |
C |
7: 62,113,297 (GRCm39) |
T267A |
unknown |
Het |
| Pkig |
A |
G |
2: 163,567,375 (GRCm39) |
|
probably null |
Het |
| Prkch |
C |
G |
12: 73,747,078 (GRCm39) |
T319S |
probably benign |
Het |
| Rhobtb1 |
T |
C |
10: 69,115,202 (GRCm39) |
S534P |
probably damaging |
Het |
| Riok2 |
A |
G |
17: 17,607,814 (GRCm39) |
N454S |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,701,935 (GRCm39) |
K2907N |
possibly damaging |
Het |
| Sdc3 |
C |
T |
4: 130,546,048 (GRCm39) |
P136S |
unknown |
Het |
| Slc37a3 |
G |
A |
6: 39,322,844 (GRCm39) |
L371F |
probably damaging |
Het |
| Slc3a1 |
A |
T |
17: 85,371,419 (GRCm39) |
H657L |
probably damaging |
Het |
| Slc7a13 |
T |
A |
4: 19,819,033 (GRCm39) |
Y78N |
probably benign |
Het |
| Slfn8 |
G |
T |
11: 82,907,838 (GRCm39) |
A235E |
probably damaging |
Het |
| Snap91 |
T |
A |
9: 86,707,094 (GRCm39) |
D232V |
possibly damaging |
Het |
| Stap2 |
C |
A |
17: 56,309,914 (GRCm39) |
S79I |
probably damaging |
Het |
| Stra6l |
T |
C |
4: 45,884,602 (GRCm39) |
V544A |
probably damaging |
Het |
| Syn2 |
T |
C |
6: 115,251,219 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
G |
A |
5: 122,388,527 (GRCm39) |
P284S |
possibly damaging |
Het |
| Terb2 |
G |
A |
2: 122,018,475 (GRCm39) |
M77I |
probably benign |
Het |
| Trim80 |
G |
T |
11: 115,338,757 (GRCm39) |
R529L |
possibly damaging |
Het |
| Washc2 |
T |
C |
6: 116,186,048 (GRCm39) |
L86P |
possibly damaging |
Het |
| Zfp74 |
A |
T |
7: 29,631,845 (GRCm39) |
F133Y |
probably benign |
Het |
| Zfp987 |
T |
A |
4: 146,060,752 (GRCm39) |
N61K |
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 |
|
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 |
|
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 |
2022-11-14 |
Incidental Mutation