Incidental Mutation 'R8722:Adgrg6'
| ID |
662172 |
| 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 |
068572-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8722 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
14278327-14421403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14296188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1071
(I1071F)
|
| 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: I1071F
PolyPhen 2
Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000043055
Gene: ENSMUSG00000039116
AA Change: I1071F
| 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: I1099F
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| Meta Mutation Damage Score |
0.2129 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.8%
|
| Validation Efficiency |
100% (54/54) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931422A03Rik |
A |
G |
2: 103,823,101 (GRCm39) |
C61R |
probably benign |
Het |
| 4933427D14Rik |
A |
G |
11: 72,080,422 (GRCm39) |
F415L |
probably benign |
Het |
| Abcc2 |
G |
A |
19: 43,825,052 (GRCm39) |
G1446D |
possibly damaging |
Het |
| Acaca |
A |
T |
11: 84,229,283 (GRCm39) |
E1703D |
possibly damaging |
Het |
| Acap3 |
T |
C |
4: 155,990,415 (GRCm39) |
*834Q |
probably null |
Het |
| Adam22 |
A |
G |
5: 8,166,554 (GRCm39) |
S726P |
probably benign |
Het |
| Adamtsl3 |
T |
C |
7: 82,244,745 (GRCm39) |
|
probably null |
Het |
| Agxt2 |
A |
T |
15: 10,373,825 (GRCm39) |
D77V |
probably benign |
Het |
| Ahnak |
C |
A |
19: 8,990,710 (GRCm39) |
S3998* |
probably null |
Het |
| Asns |
T |
A |
6: 7,676,085 (GRCm39) |
I462F |
probably damaging |
Het |
| Barx2 |
G |
C |
9: 31,824,280 (GRCm39) |
C36W |
probably damaging |
Het |
| Bnc2 |
A |
G |
4: 84,211,883 (GRCm39) |
V162A |
possibly damaging |
Het |
| Bptf |
A |
G |
11: 107,022,295 (GRCm39) |
S152P |
unknown |
Het |
| Brpf3 |
T |
C |
17: 29,029,510 (GRCm39) |
L490P |
probably benign |
Het |
| Carmil1 |
T |
C |
13: 24,220,568 (GRCm39) |
D1052G |
probably benign |
Het |
| Ccn1 |
T |
A |
3: 145,354,584 (GRCm39) |
N109I |
probably damaging |
Het |
| Cdk17 |
A |
G |
10: 93,064,565 (GRCm39) |
H311R |
probably damaging |
Het |
| Cenpj |
G |
A |
14: 56,772,975 (GRCm39) |
R1022C |
probably damaging |
Het |
| Cog5 |
A |
G |
12: 31,969,703 (GRCm39) |
D741G |
possibly damaging |
Het |
| Csmd2 |
T |
A |
4: 128,445,743 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
G |
A |
11: 117,961,283 (GRCm39) |
Q2568* |
probably null |
Het |
| Dspp |
A |
G |
5: 104,326,433 (GRCm39) |
D932G |
unknown |
Het |
| Dtwd2 |
T |
C |
18: 49,833,385 (GRCm39) |
T223A |
probably damaging |
Het |
| Fzd8 |
A |
G |
18: 9,213,686 (GRCm39) |
N256S |
possibly damaging |
Het |
| Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
| Gm9936 |
T |
C |
5: 114,995,515 (GRCm39) |
Y34C |
unknown |
Het |
| Gstcd |
T |
A |
3: 132,777,822 (GRCm39) |
K330* |
probably null |
Het |
| Igf2bp1 |
A |
G |
11: 95,861,606 (GRCm39) |
V277A |
possibly damaging |
Het |
| Kidins220 |
G |
A |
12: 25,051,593 (GRCm39) |
V332I |
probably benign |
Het |
| Kif24 |
T |
C |
4: 41,394,233 (GRCm39) |
H1014R |
probably benign |
Het |
| Lrrc43 |
T |
C |
5: 123,646,142 (GRCm39) |
Y639H |
possibly damaging |
Het |
| Med22 |
T |
C |
2: 26,800,313 (GRCm39) |
T39A |
probably benign |
Het |
| Morn3 |
T |
C |
5: 123,179,177 (GRCm39) |
Y91C |
probably damaging |
Het |
| Myo1a |
T |
C |
10: 127,542,707 (GRCm39) |
M115T |
probably damaging |
Het |
| Or10w3 |
T |
C |
19: 13,704,033 (GRCm39) |
M136T |
possibly damaging |
Het |
| Or1e32 |
T |
A |
11: 73,705,882 (GRCm39) |
I9F |
probably benign |
Het |
| Or52n2b |
C |
T |
7: 104,565,708 (GRCm39) |
R265H |
probably benign |
Het |
| Pdcl |
T |
C |
2: 37,247,317 (GRCm39) |
D24G |
probably benign |
Het |
| Pde10a |
G |
A |
17: 9,163,772 (GRCm39) |
C250Y |
probably benign |
Het |
| Pla2g10 |
A |
T |
16: 13,548,254 (GRCm39) |
L8M |
unknown |
Het |
| Plch2 |
A |
T |
4: 155,069,860 (GRCm39) |
|
probably benign |
Het |
| Ppp1r42 |
T |
C |
1: 10,055,894 (GRCm39) |
K198R |
probably benign |
Het |
| Prlh |
G |
T |
1: 90,880,897 (GRCm39) |
R23L |
possibly damaging |
Het |
| Ranbp2 |
C |
A |
10: 58,312,049 (GRCm39) |
T923K |
probably damaging |
Het |
| Rps11 |
T |
C |
7: 44,772,616 (GRCm39) |
N65S |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,603,116 (GRCm39) |
T2463A |
probably benign |
Het |
| Shank2 |
C |
T |
7: 143,729,485 (GRCm39) |
|
probably benign |
Het |
| Slc12a1 |
T |
A |
2: 125,002,518 (GRCm39) |
V166E |
probably damaging |
Het |
| Slc6a9 |
C |
T |
4: 117,714,452 (GRCm39) |
R97C |
unknown |
Het |
| Slpi |
A |
C |
2: 164,197,975 (GRCm39) |
M1R |
probably null |
Het |
| Syne2 |
T |
A |
12: 75,972,095 (GRCm39) |
V994D |
probably benign |
Het |
| Tacc3 |
T |
C |
5: 33,825,553 (GRCm39) |
Y435H |
probably damaging |
Het |
| Tpgs2 |
T |
A |
18: 25,274,679 (GRCm39) |
Q132L |
probably benign |
Het |
| Usp13 |
T |
A |
3: 32,956,114 (GRCm39) |
I462N |
probably benign |
Het |
| Zfp281 |
C |
T |
1: 136,553,334 (GRCm39) |
A104V |
probably benign |
Het |
| Zfp40 |
A |
G |
17: 23,395,157 (GRCm39) |
C477R |
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 |
|
R8406:Adgrg6
|
UTSW |
10 |
14,343,082 (GRCm39) |
missense |
probably benign |
0.05 |
|
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'- AAAGTCAACTAATGGTCTCCCTC -3'
(R):5'- TCTTCCTGAATGTCGCCATG -3'
Sequencing Primer
(F):5'- CTTTACCTATGCAAGAGCTCTTTAAG -3'
(R):5'- CTGAATGTCGCCATGTTCATTG -3'
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| Posted On |
2021-03-08 |
Incidental Mutation