Incidental Mutation 'R6693:Adgrg7'
| ID |
528184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrg7
|
| Ensembl Gene |
ENSMUSG00000022755 |
| Gene Name |
adhesion G protein-coupled receptor G7 |
| Synonyms |
9130020O16Rik, Gpr128 |
| MMRRC Submission |
044811-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6693 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
56544972-56616218 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56590587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 195
(N195Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023437
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023437]
|
| AlphaFold |
Q8BM96 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023437
AA Change: N195Y
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023437
Gene: ENSMUSG00000022755
AA Change: N195Y
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
SCOP:d1edmb_
|
52 |
76 |
1e-3 |
SMART |
|
GPS
|
376 |
424 |
6.16e-8 |
SMART |
|
Pfam:7tm_2
|
428 |
712 |
4.5e-40 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body weight gain and increased frequency of peristalsis and slow wave potential in the small intestine. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,774,915 (GRCm39) |
V1368A |
probably benign |
Het |
| Aak1 |
C |
T |
6: 86,942,497 (GRCm39) |
S680L |
unknown |
Het |
| Adam25 |
A |
T |
8: 41,207,568 (GRCm39) |
N278I |
probably damaging |
Het |
| Adamtsl1 |
C |
A |
4: 86,261,123 (GRCm39) |
H1111Q |
probably benign |
Het |
| Arhgap23 |
A |
G |
11: 97,357,343 (GRCm39) |
N436S |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,956,445 (GRCm39) |
I1045V |
probably benign |
Het |
| Chrm3 |
T |
C |
13: 9,927,458 (GRCm39) |
N526S |
probably benign |
Het |
| Cpeb2 |
A |
T |
5: 43,443,255 (GRCm39) |
D982V |
probably damaging |
Het |
| Fbxw27 |
T |
C |
9: 109,617,112 (GRCm39) |
I130V |
probably benign |
Het |
| Glb1l |
T |
C |
1: 75,185,745 (GRCm39) |
D61G |
probably damaging |
Het |
| Herc1 |
G |
A |
9: 66,386,258 (GRCm39) |
C3737Y |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,278,965 (GRCm39) |
M39L |
probably benign |
Het |
| Kif17 |
C |
A |
4: 138,013,791 (GRCm39) |
Q236K |
probably benign |
Het |
| Klhl25 |
T |
C |
7: 75,516,561 (GRCm39) |
V184A |
possibly damaging |
Het |
| Lmf1 |
A |
T |
17: 25,864,252 (GRCm39) |
M287L |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,601 (GRCm39) |
T822A |
possibly damaging |
Het |
| Mmp13 |
A |
T |
9: 7,280,245 (GRCm39) |
T392S |
probably benign |
Het |
| Myo6 |
T |
A |
9: 80,153,013 (GRCm39) |
N215K |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,534,199 (GRCm39) |
K317R |
possibly damaging |
Het |
| Or8g17 |
C |
T |
9: 38,930,097 (GRCm39) |
A247T |
probably damaging |
Het |
| Or9m1 |
A |
G |
2: 87,733,652 (GRCm39) |
Y123H |
probably damaging |
Het |
| Pax9 |
T |
A |
12: 56,756,516 (GRCm39) |
S285T |
probably benign |
Het |
| Pcdhb15 |
A |
T |
18: 37,607,394 (GRCm39) |
T209S |
probably benign |
Het |
| Pdpk1 |
A |
T |
17: 24,330,100 (GRCm39) |
|
probably null |
Het |
| Rbak |
T |
C |
5: 143,159,866 (GRCm39) |
K396E |
probably damaging |
Het |
| Rps6ka5 |
A |
G |
12: 100,540,088 (GRCm39) |
V545A |
probably benign |
Het |
| Scg2 |
G |
T |
1: 79,413,737 (GRCm39) |
Q329K |
probably benign |
Het |
| Shroom3 |
G |
A |
5: 93,088,617 (GRCm39) |
A456T |
possibly damaging |
Het |
| Slc12a7 |
G |
T |
13: 73,945,656 (GRCm39) |
A489S |
probably benign |
Het |
| Slc16a4 |
T |
C |
3: 107,210,380 (GRCm39) |
I350T |
probably damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,930,162 (GRCm39) |
V44A |
possibly damaging |
Het |
| Sucla2 |
T |
A |
14: 73,806,107 (GRCm39) |
L102* |
probably null |
Het |
| Tgif1 |
T |
A |
17: 71,157,885 (GRCm39) |
|
probably benign |
Het |
| Tmem8b |
A |
G |
4: 43,669,837 (GRCm39) |
E111G |
probably benign |
Het |
| Zfp971 |
G |
T |
2: 177,675,224 (GRCm39) |
K274N |
probably benign |
Het |
|
| Other mutations in Adgrg7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01783:Adgrg7
|
APN |
16 |
56,568,282 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03122:Adgrg7
|
APN |
16 |
56,590,725 (GRCm39) |
splice site |
probably benign |
|
|
orchard
|
UTSW |
16 |
56,545,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
sevin
|
UTSW |
16 |
56,562,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0632:Adgrg7
|
UTSW |
16 |
56,562,952 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0673:Adgrg7
|
UTSW |
16 |
56,593,849 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1690:Adgrg7
|
UTSW |
16 |
56,615,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2009:Adgrg7
|
UTSW |
16 |
56,582,236 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2017:Adgrg7
|
UTSW |
16 |
56,553,169 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2132:Adgrg7
|
UTSW |
16 |
56,588,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Adgrg7
|
UTSW |
16 |
56,572,791 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2229:Adgrg7
|
UTSW |
16 |
56,572,766 (GRCm39) |
missense |
probably benign |
|
|
R2436:Adgrg7
|
UTSW |
16 |
56,582,308 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2878:Adgrg7
|
UTSW |
16 |
56,570,817 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2981:Adgrg7
|
UTSW |
16 |
56,570,769 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4014:Adgrg7
|
UTSW |
16 |
56,562,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4023:Adgrg7
|
UTSW |
16 |
56,550,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4024:Adgrg7
|
UTSW |
16 |
56,550,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4026:Adgrg7
|
UTSW |
16 |
56,550,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4551:Adgrg7
|
UTSW |
16 |
56,568,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4834:Adgrg7
|
UTSW |
16 |
56,553,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5041:Adgrg7
|
UTSW |
16 |
56,550,711 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5145:Adgrg7
|
UTSW |
16 |
56,562,682 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5377:Adgrg7
|
UTSW |
16 |
56,550,669 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5549:Adgrg7
|
UTSW |
16 |
56,570,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5915:Adgrg7
|
UTSW |
16 |
56,550,748 (GRCm39) |
splice site |
probably null |
|
|
R5957:Adgrg7
|
UTSW |
16 |
56,593,790 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6146:Adgrg7
|
UTSW |
16 |
56,593,829 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6198:Adgrg7
|
UTSW |
16 |
56,597,556 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6233:Adgrg7
|
UTSW |
16 |
56,599,005 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6337:Adgrg7
|
UTSW |
16 |
56,572,788 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6633:Adgrg7
|
UTSW |
16 |
56,550,649 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6812:Adgrg7
|
UTSW |
16 |
56,616,161 (GRCm39) |
start gained |
probably benign |
|
|
R6841:Adgrg7
|
UTSW |
16 |
56,570,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6868:Adgrg7
|
UTSW |
16 |
56,593,839 (GRCm39) |
missense |
probably benign |
|
|
R7076:Adgrg7
|
UTSW |
16 |
56,562,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7146:Adgrg7
|
UTSW |
16 |
56,550,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7232:Adgrg7
|
UTSW |
16 |
56,597,515 (GRCm39) |
splice site |
probably null |
|
|
R7266:Adgrg7
|
UTSW |
16 |
56,590,674 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7376:Adgrg7
|
UTSW |
16 |
56,545,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7390:Adgrg7
|
UTSW |
16 |
56,553,207 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7401:Adgrg7
|
UTSW |
16 |
56,562,781 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7496:Adgrg7
|
UTSW |
16 |
56,553,220 (GRCm39) |
missense |
probably benign |
|
|
R7540:Adgrg7
|
UTSW |
16 |
56,570,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8147:Adgrg7
|
UTSW |
16 |
56,562,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8354:Adgrg7
|
UTSW |
16 |
56,616,045 (GRCm39) |
start gained |
probably benign |
|
|
R8372:Adgrg7
|
UTSW |
16 |
56,616,114 (GRCm39) |
start gained |
probably benign |
|
|
R8393:Adgrg7
|
UTSW |
16 |
56,582,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8454:Adgrg7
|
UTSW |
16 |
56,616,045 (GRCm39) |
start gained |
probably benign |
|
|
R8723:Adgrg7
|
UTSW |
16 |
56,582,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8891:Adgrg7
|
UTSW |
16 |
56,572,762 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9017:Adgrg7
|
UTSW |
16 |
56,553,211 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9570:Adgrg7
|
UTSW |
16 |
56,570,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9604:Adgrg7
|
UTSW |
16 |
56,597,570 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9628:Adgrg7
|
UTSW |
16 |
56,553,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCAGTGGGAAAAGATGTGC -3'
(R):5'- CAGCTCATTCAACTGCAGTCATTTG -3'
Sequencing Primer
(F):5'- AAAGATGTGCCTAGCCCCTGATG -3'
(R):5'- GCAGTCATTTGCAAAATGTTTAGG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation