Incidental Mutation 'R6149:Adgre1'
ID |
489105 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgre1
|
Ensembl Gene |
ENSMUSG00000004730 |
Gene Name |
adhesion G protein-coupled receptor E1 |
Synonyms |
DD7A5-7, EGF-TM7, Emr1, Ly71, F4/80, TM7LN3 |
MMRRC Submission |
044296-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
R6149 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
57665691-57790527 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57752018 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 589
(K589E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083971
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004850]
[ENSMUST00000086763]
|
AlphaFold |
Q61549 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004850
AA Change: K589E
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000004850 Gene: ENSMUSG00000004730 AA Change: K589E
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
32 |
N/A |
INTRINSIC |
EGF
|
35 |
80 |
1.43e-1 |
SMART |
EGF_CA
|
81 |
122 |
3.59e-7 |
SMART |
EGF_CA
|
133 |
172 |
4.56e-9 |
SMART |
EGF_CA
|
173 |
221 |
1.29e-8 |
SMART |
EGF_CA
|
222 |
271 |
2.31e-10 |
SMART |
EGF_CA
|
272 |
318 |
1.06e-9 |
SMART |
EGF_CA
|
319 |
367 |
1.18e-7 |
SMART |
GPS
|
591 |
641 |
2.57e-19 |
SMART |
Pfam:7tm_2
|
644 |
885 |
2.1e-63 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000086763
AA Change: K589E
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000083971 Gene: ENSMUSG00000004730 AA Change: K589E
Domain | Start | End | E-Value | Type |
low complexity region
|
19 |
32 |
N/A |
INTRINSIC |
EGF
|
35 |
80 |
1.43e-1 |
SMART |
EGF_CA
|
81 |
122 |
3.59e-7 |
SMART |
EGF_CA
|
133 |
172 |
4.56e-9 |
SMART |
EGF_CA
|
173 |
221 |
1.29e-8 |
SMART |
EGF_CA
|
222 |
271 |
2.31e-10 |
SMART |
EGF_CA
|
272 |
318 |
1.06e-9 |
SMART |
EGF_CA
|
319 |
367 |
1.18e-7 |
SMART |
GPS
|
591 |
641 |
2.57e-19 |
SMART |
Pfam:7tm_2
|
644 |
885 |
2.1e-63 |
PFAM |
|
Meta Mutation Damage Score |
0.1125 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
Validation Efficiency |
99% (69/70) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has a domain resembling seven transmembrane G protein-coupled hormone receptors (7TM receptors) at its C-terminus. The N-terminus of the encoded protein has six EGF-like modules, separated from the transmembrane segments by a serine/threonine-rich domain, a feature reminiscent of mucin-like, single-span, integral membrane glycoproteins with adhesive properties. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] PHENOTYPE: Homozygous null mice fail to develop peripheral tolerance after inoculation with antigen because of a lack of efferent regulatory T cell development. [provided by MGI curators]
|
Allele List at MGI |
All alleles(4) : Targeted(3) Chemically induced(1)
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930558K02Rik |
T |
A |
1: 161,777,211 (GRCm39) |
R115S |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,330,893 (GRCm39) |
L74Q |
probably damaging |
Het |
Avil |
A |
G |
10: 126,842,451 (GRCm39) |
I77V |
probably benign |
Het |
Best2 |
T |
C |
8: 85,739,896 (GRCm39) |
E57G |
probably benign |
Het |
Cacna1a |
T |
C |
8: 85,296,581 (GRCm39) |
C1200R |
probably damaging |
Het |
Catsperb |
T |
A |
12: 101,516,098 (GRCm39) |
I578K |
probably damaging |
Het |
Chsy1 |
A |
G |
7: 65,775,133 (GRCm39) |
Y154C |
probably damaging |
Het |
Chuk |
A |
G |
19: 44,090,270 (GRCm39) |
V74A |
probably damaging |
Het |
Ckb |
T |
C |
12: 111,638,248 (GRCm39) |
S49G |
probably damaging |
Het |
Crtac1 |
A |
G |
19: 42,272,048 (GRCm39) |
Y632H |
unknown |
Het |
Ern1 |
C |
A |
11: 106,296,641 (GRCm39) |
E770* |
probably null |
Het |
Fam114a2 |
A |
C |
11: 57,378,415 (GRCm39) |
V450G |
probably benign |
Het |
Fgf15 |
C |
T |
7: 144,453,506 (GRCm39) |
Q125* |
probably null |
Het |
Frem2 |
A |
T |
3: 53,458,762 (GRCm39) |
S2036T |
probably damaging |
Het |
Fxr2 |
G |
A |
11: 69,540,030 (GRCm39) |
V296I |
probably benign |
Het |
Gm15264 |
C |
A |
3: 94,640,736 (GRCm39) |
|
noncoding transcript |
Het |
Ifi213 |
A |
T |
1: 173,421,581 (GRCm39) |
S103T |
probably benign |
Het |
Igkv5-37 |
T |
A |
6: 69,940,472 (GRCm39) |
Q57H |
probably damaging |
Het |
Il1rap |
A |
G |
16: 26,530,969 (GRCm39) |
Y435C |
probably damaging |
Het |
Kl |
T |
A |
5: 150,912,318 (GRCm39) |
M689K |
possibly damaging |
Het |
Lcor |
T |
A |
19: 41,573,641 (GRCm39) |
W799R |
probably damaging |
Het |
Lnp1 |
C |
T |
16: 56,737,735 (GRCm39) |
E118K |
probably benign |
Het |
Lrif1 |
A |
C |
3: 106,639,643 (GRCm39) |
K243Q |
possibly damaging |
Het |
Lrp1b |
G |
T |
2: 40,765,165 (GRCm39) |
|
probably null |
Het |
Lvrn |
G |
A |
18: 47,017,499 (GRCm39) |
V610I |
probably benign |
Het |
Med1 |
T |
C |
11: 98,074,679 (GRCm39) |
K67R |
possibly damaging |
Het |
Midn |
T |
C |
10: 79,990,291 (GRCm39) |
S278P |
probably damaging |
Het |
Nrap |
A |
G |
19: 56,377,885 (GRCm39) |
V35A |
possibly damaging |
Het |
Nynrin |
A |
T |
14: 56,091,780 (GRCm39) |
Q32L |
possibly damaging |
Het |
Oog1 |
C |
T |
12: 87,653,043 (GRCm39) |
T113I |
possibly damaging |
Het |
Or10ak7 |
A |
G |
4: 118,791,628 (GRCm39) |
L139P |
probably damaging |
Het |
Or10j3 |
G |
T |
1: 173,031,582 (GRCm39) |
V220F |
probably benign |
Het |
Or4x11 |
C |
T |
2: 89,867,860 (GRCm39) |
A199V |
probably benign |
Het |
Or5b21 |
A |
T |
19: 12,839,723 (GRCm39) |
I195F |
probably benign |
Het |
Or6a2 |
T |
C |
7: 106,600,807 (GRCm39) |
I87V |
probably benign |
Het |
Otogl |
C |
T |
10: 107,717,314 (GRCm39) |
V386I |
probably benign |
Het |
Patj |
A |
G |
4: 98,312,562 (GRCm39) |
N300S |
possibly damaging |
Het |
Pcdhb16 |
T |
A |
18: 37,612,208 (GRCm39) |
D389E |
possibly damaging |
Het |
Pdcd6ip |
T |
C |
9: 113,488,939 (GRCm39) |
I699V |
probably benign |
Het |
Pfas |
A |
G |
11: 68,882,771 (GRCm39) |
V790A |
probably benign |
Het |
Plppr4 |
A |
T |
3: 117,116,043 (GRCm39) |
C605S |
probably benign |
Het |
Ppl |
G |
A |
16: 4,925,460 (GRCm39) |
Q60* |
probably null |
Het |
Ppp1r1c |
A |
G |
2: 79,586,810 (GRCm39) |
K52R |
possibly damaging |
Het |
Pramel29 |
A |
G |
4: 143,933,983 (GRCm39) |
S375P |
probably damaging |
Het |
Prpf40a |
T |
C |
2: 53,047,927 (GRCm39) |
M197V |
probably benign |
Het |
Rpe65 |
G |
A |
3: 159,319,780 (GRCm39) |
E217K |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,892 (GRCm39) |
I560T |
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,683,903 (GRCm39) |
S3054G |
probably benign |
Het |
Serpinb6a |
A |
T |
13: 34,102,343 (GRCm39) |
L273H |
probably damaging |
Het |
Sf3b1 |
A |
T |
1: 55,046,666 (GRCm39) |
W293R |
probably damaging |
Het |
Sik1 |
A |
T |
17: 32,067,771 (GRCm39) |
S435T |
possibly damaging |
Het |
Slc2a12 |
G |
T |
10: 22,540,401 (GRCm39) |
M85I |
probably benign |
Het |
Stk36 |
T |
C |
1: 74,673,388 (GRCm39) |
S1094P |
probably benign |
Het |
Tctn1 |
A |
T |
5: 122,384,649 (GRCm39) |
Y393N |
probably benign |
Het |
Tex9 |
C |
T |
9: 72,369,282 (GRCm39) |
|
probably null |
Het |
Thbs2 |
A |
G |
17: 14,899,942 (GRCm39) |
|
probably null |
Het |
Tmprss7 |
A |
T |
16: 45,494,268 (GRCm39) |
C412* |
probably null |
Het |
Tpp1 |
T |
C |
7: 105,396,934 (GRCm39) |
T399A |
probably benign |
Het |
Trim25 |
T |
A |
11: 88,906,362 (GRCm39) |
V387D |
probably benign |
Het |
Usp45 |
A |
C |
4: 21,810,797 (GRCm39) |
D331A |
probably damaging |
Het |
Vill |
T |
G |
9: 118,887,482 (GRCm39) |
V82G |
possibly damaging |
Het |
Vmn1r189 |
T |
C |
13: 22,286,054 (GRCm39) |
D261G |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r111 |
G |
A |
17: 22,767,796 (GRCm39) |
T567I |
probably benign |
Het |
Vmn2r60 |
A |
G |
7: 41,786,400 (GRCm39) |
Y401C |
probably damaging |
Het |
Zc3h11a |
G |
A |
1: 133,566,613 (GRCm39) |
R69* |
probably null |
Het |
|
Other mutations in Adgre1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00090:Adgre1
|
APN |
17 |
57,757,055 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00966:Adgre1
|
APN |
17 |
57,726,335 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01680:Adgre1
|
APN |
17 |
57,709,620 (GRCm39) |
missense |
unknown |
|
IGL01724:Adgre1
|
APN |
17 |
57,751,064 (GRCm39) |
nonsense |
probably null |
|
IGL02172:Adgre1
|
APN |
17 |
57,785,879 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02260:Adgre1
|
APN |
17 |
57,754,891 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02272:Adgre1
|
APN |
17 |
57,757,021 (GRCm39) |
nonsense |
probably null |
|
IGL02336:Adgre1
|
APN |
17 |
57,718,024 (GRCm39) |
nonsense |
probably null |
|
IGL02346:Adgre1
|
APN |
17 |
57,750,919 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02398:Adgre1
|
APN |
17 |
57,709,824 (GRCm39) |
nonsense |
probably null |
|
IGL02618:Adgre1
|
APN |
17 |
57,751,021 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02690:Adgre1
|
APN |
17 |
57,787,921 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02936:Adgre1
|
APN |
17 |
57,785,833 (GRCm39) |
missense |
probably benign |
0.26 |
IGL03112:Adgre1
|
APN |
17 |
57,755,029 (GRCm39) |
splice site |
probably null |
|
IGL03350:Adgre1
|
APN |
17 |
57,708,908 (GRCm39) |
missense |
probably benign |
0.16 |
F480
|
UTSW |
17 |
57,751,063 (GRCm39) |
missense |
probably damaging |
1.00 |
lomax
|
UTSW |
17 |
57,709,811 (GRCm39) |
missense |
unknown |
|
Onion
|
UTSW |
17 |
57,709,841 (GRCm39) |
nonsense |
probably null |
|
Scallion
|
UTSW |
17 |
57,708,977 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0049:Adgre1
|
UTSW |
17 |
57,709,841 (GRCm39) |
nonsense |
probably null |
|
R0153:Adgre1
|
UTSW |
17 |
57,750,939 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0277:Adgre1
|
UTSW |
17 |
57,751,060 (GRCm39) |
missense |
probably benign |
0.00 |
R0278:Adgre1
|
UTSW |
17 |
57,754,872 (GRCm39) |
missense |
probably benign |
0.07 |
R0323:Adgre1
|
UTSW |
17 |
57,751,060 (GRCm39) |
missense |
probably benign |
0.00 |
R0389:Adgre1
|
UTSW |
17 |
57,713,839 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0492:Adgre1
|
UTSW |
17 |
57,709,742 (GRCm39) |
missense |
unknown |
|
R0621:Adgre1
|
UTSW |
17 |
57,748,359 (GRCm39) |
missense |
probably damaging |
0.98 |
R0647:Adgre1
|
UTSW |
17 |
57,718,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R1310:Adgre1
|
UTSW |
17 |
57,754,936 (GRCm39) |
missense |
probably benign |
0.00 |
R1601:Adgre1
|
UTSW |
17 |
57,748,353 (GRCm39) |
missense |
probably benign |
0.01 |
R1689:Adgre1
|
UTSW |
17 |
57,756,921 (GRCm39) |
missense |
probably benign |
0.31 |
R1708:Adgre1
|
UTSW |
17 |
57,708,974 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1796:Adgre1
|
UTSW |
17 |
57,748,350 (GRCm39) |
missense |
probably benign |
0.43 |
R1839:Adgre1
|
UTSW |
17 |
57,748,299 (GRCm39) |
missense |
probably benign |
0.00 |
R1860:Adgre1
|
UTSW |
17 |
57,748,363 (GRCm39) |
missense |
probably benign |
0.00 |
R2165:Adgre1
|
UTSW |
17 |
57,726,338 (GRCm39) |
missense |
probably damaging |
0.97 |
R2219:Adgre1
|
UTSW |
17 |
57,708,912 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2519:Adgre1
|
UTSW |
17 |
57,717,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R3874:Adgre1
|
UTSW |
17 |
57,708,925 (GRCm39) |
missense |
probably benign |
0.08 |
R3911:Adgre1
|
UTSW |
17 |
57,754,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R4190:Adgre1
|
UTSW |
17 |
57,709,811 (GRCm39) |
missense |
unknown |
|
R4439:Adgre1
|
UTSW |
17 |
57,754,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R4513:Adgre1
|
UTSW |
17 |
57,717,947 (GRCm39) |
missense |
probably benign |
0.34 |
R4529:Adgre1
|
UTSW |
17 |
57,727,519 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4543:Adgre1
|
UTSW |
17 |
57,713,874 (GRCm39) |
missense |
probably benign |
0.07 |
R4610:Adgre1
|
UTSW |
17 |
57,757,073 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4665:Adgre1
|
UTSW |
17 |
57,787,947 (GRCm39) |
missense |
probably benign |
0.20 |
R4911:Adgre1
|
UTSW |
17 |
57,754,832 (GRCm39) |
missense |
possibly damaging |
0.57 |
R4928:Adgre1
|
UTSW |
17 |
57,751,064 (GRCm39) |
nonsense |
probably null |
|
R4942:Adgre1
|
UTSW |
17 |
57,713,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R4946:Adgre1
|
UTSW |
17 |
57,750,918 (GRCm39) |
missense |
probably benign |
0.33 |
R4953:Adgre1
|
UTSW |
17 |
57,748,321 (GRCm39) |
missense |
probably damaging |
0.99 |
R5107:Adgre1
|
UTSW |
17 |
57,708,977 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5366:Adgre1
|
UTSW |
17 |
57,709,817 (GRCm39) |
missense |
probably benign |
0.39 |
R5590:Adgre1
|
UTSW |
17 |
57,752,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R5619:Adgre1
|
UTSW |
17 |
57,727,437 (GRCm39) |
missense |
probably benign |
0.15 |
R5699:Adgre1
|
UTSW |
17 |
57,788,007 (GRCm39) |
missense |
probably benign |
0.43 |
R5734:Adgre1
|
UTSW |
17 |
57,750,990 (GRCm39) |
missense |
probably benign |
0.00 |
R5860:Adgre1
|
UTSW |
17 |
57,752,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R6039:Adgre1
|
UTSW |
17 |
57,713,859 (GRCm39) |
missense |
probably benign |
0.28 |
R6039:Adgre1
|
UTSW |
17 |
57,713,859 (GRCm39) |
missense |
probably benign |
0.28 |
R6478:Adgre1
|
UTSW |
17 |
57,708,955 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6709:Adgre1
|
UTSW |
17 |
57,713,917 (GRCm39) |
missense |
probably benign |
0.10 |
R6864:Adgre1
|
UTSW |
17 |
57,785,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R6945:Adgre1
|
UTSW |
17 |
57,727,399 (GRCm39) |
missense |
probably benign |
0.39 |
R6945:Adgre1
|
UTSW |
17 |
57,717,844 (GRCm39) |
missense |
probably benign |
0.01 |
R6988:Adgre1
|
UTSW |
17 |
57,715,445 (GRCm39) |
missense |
probably benign |
0.00 |
R7019:Adgre1
|
UTSW |
17 |
57,717,945 (GRCm39) |
missense |
probably damaging |
0.98 |
R7154:Adgre1
|
UTSW |
17 |
57,751,087 (GRCm39) |
splice site |
probably null |
|
R7347:Adgre1
|
UTSW |
17 |
57,727,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R7459:Adgre1
|
UTSW |
17 |
57,756,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R7709:Adgre1
|
UTSW |
17 |
57,709,519 (GRCm39) |
missense |
unknown |
|
R7939:Adgre1
|
UTSW |
17 |
57,756,938 (GRCm39) |
missense |
probably damaging |
0.98 |
R7977:Adgre1
|
UTSW |
17 |
57,754,987 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7987:Adgre1
|
UTSW |
17 |
57,754,987 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8187:Adgre1
|
UTSW |
17 |
57,727,349 (GRCm39) |
missense |
probably benign |
0.00 |
R8210:Adgre1
|
UTSW |
17 |
57,752,061 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8223:Adgre1
|
UTSW |
17 |
57,668,692 (GRCm39) |
missense |
probably damaging |
0.99 |
R8344:Adgre1
|
UTSW |
17 |
57,715,459 (GRCm39) |
missense |
probably benign |
0.12 |
R8698:Adgre1
|
UTSW |
17 |
57,709,003 (GRCm39) |
missense |
probably benign |
0.05 |
R9236:Adgre1
|
UTSW |
17 |
57,709,782 (GRCm39) |
nonsense |
probably null |
|
R9262:Adgre1
|
UTSW |
17 |
57,754,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R9303:Adgre1
|
UTSW |
17 |
57,748,275 (GRCm39) |
missense |
probably benign |
0.00 |
R9305:Adgre1
|
UTSW |
17 |
57,748,275 (GRCm39) |
missense |
probably benign |
0.00 |
R9605:Adgre1
|
UTSW |
17 |
57,718,083 (GRCm39) |
missense |
probably benign |
0.00 |
R9661:Adgre1
|
UTSW |
17 |
57,748,368 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9678:Adgre1
|
UTSW |
17 |
57,750,997 (GRCm39) |
missense |
probably damaging |
0.96 |
R9751:Adgre1
|
UTSW |
17 |
57,757,101 (GRCm39) |
missense |
probably null |
0.06 |
R9785:Adgre1
|
UTSW |
17 |
57,785,930 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Adgre1
|
UTSW |
17 |
57,668,729 (GRCm39) |
missense |
possibly damaging |
0.76 |
Z1177:Adgre1
|
UTSW |
17 |
57,726,374 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGCTGAGCTATCTTCCTGG -3'
(R):5'- CTCAGGAAAACATGAATGAGCTACC -3'
Sequencing Primer
(F):5'- GCTATCTTCCTGGCTCTGAAAGAAG -3'
(R):5'- TGAGCTACCAATACTCACCGTAAG -3'
|
Posted On |
2017-10-10 |