Incidental Mutation 'R8187:Adgre1'
| ID |
634946 |
| 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 |
067610-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R8187 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
57665691-57790527 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57727349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 426
(S426R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004850]
[ENSMUST00000086763]
|
| AlphaFold |
Q61549 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004850
AA Change: S426R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000004850
Gene: ENSMUSG00000004730
AA Change: S426R
| 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: S426R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000083971
Gene: ENSMUSG00000004730
AA Change: S426R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (57/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
A |
T |
1: 120,115,913 (GRCm39) |
*122L |
probably null |
Het |
| 4930438A08Rik |
A |
G |
11: 58,180,548 (GRCm39) |
S200G |
|
Het |
| Adgrg1 |
A |
G |
8: 95,732,446 (GRCm39) |
E229G |
probably benign |
Het |
| Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
| Arhgef39 |
A |
T |
4: 43,498,999 (GRCm39) |
L84Q |
probably damaging |
Het |
| Bpifb9a |
A |
G |
2: 154,111,377 (GRCm39) |
I544V |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,803,934 (GRCm39) |
L2079I |
probably damaging |
Het |
| Ccnh |
T |
A |
13: 85,337,656 (GRCm39) |
M1K |
probably null |
Het |
| Cdh16 |
T |
C |
8: 105,344,870 (GRCm39) |
N415S |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,079,551 (GRCm39) |
N317D |
probably benign |
Het |
| Cnot10 |
A |
T |
9: 114,426,556 (GRCm39) |
C665* |
probably null |
Het |
| Csmd1 |
G |
T |
8: 16,177,188 (GRCm39) |
H1358Q |
probably damaging |
Het |
| Cyp4f37 |
T |
C |
17: 32,854,171 (GRCm39) |
V540A |
probably benign |
Het |
| Daam1 |
A |
G |
12: 71,942,602 (GRCm39) |
D22G |
unknown |
Het |
| Dhdds |
A |
G |
4: 133,727,679 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,384,355 (GRCm39) |
V3033A |
probably damaging |
Het |
| Dync1i2 |
A |
G |
2: 71,044,865 (GRCm39) |
K25R |
probably benign |
Het |
| Efhc1 |
T |
A |
1: 21,030,396 (GRCm39) |
S110T |
probably damaging |
Het |
| Emilin3 |
T |
C |
2: 160,750,000 (GRCm39) |
N583S |
possibly damaging |
Het |
| Eri2 |
A |
G |
7: 119,384,767 (GRCm39) |
V578A |
probably damaging |
Het |
| F2rl2 |
A |
T |
13: 95,837,911 (GRCm39) |
I319L |
probably benign |
Het |
| Gjd3 |
A |
C |
11: 102,691,381 (GRCm39) |
Y207* |
probably null |
Het |
| Gm19965 |
T |
A |
1: 116,749,532 (GRCm39) |
C404* |
probably null |
Het |
| Gm2832 |
A |
T |
14: 41,000,915 (GRCm39) |
H51L |
|
Het |
| Gpam |
T |
C |
19: 55,066,269 (GRCm39) |
T631A |
probably benign |
Het |
| Hdac2 |
T |
C |
10: 36,864,132 (GRCm39) |
S114P |
probably damaging |
Het |
| Hsd3b1 |
T |
A |
3: 98,759,933 (GRCm39) |
T353S |
probably damaging |
Het |
| Idh1 |
T |
C |
1: 65,198,700 (GRCm39) |
D390G |
probably damaging |
Het |
| Il36g |
T |
G |
2: 24,082,617 (GRCm39) |
L131V |
probably damaging |
Het |
| Irs1 |
G |
T |
1: 82,266,021 (GRCm39) |
P732T |
probably damaging |
Het |
| Kansl1l |
T |
A |
1: 66,840,896 (GRCm39) |
I135F |
possibly damaging |
Het |
| Mcc |
A |
G |
18: 44,667,327 (GRCm39) |
V208A |
possibly damaging |
Het |
| Mgrn1 |
A |
G |
16: 4,738,229 (GRCm39) |
N261S |
probably benign |
Het |
| Mybpc2 |
T |
A |
7: 44,161,894 (GRCm39) |
N519Y |
possibly damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nr1h5 |
G |
T |
3: 102,861,986 (GRCm39) |
H94Q |
probably benign |
Het |
| Nsmce4a |
A |
G |
7: 130,144,519 (GRCm39) |
V128A |
probably benign |
Het |
| Or5w14 |
T |
G |
2: 87,541,624 (GRCm39) |
S209R |
probably benign |
Het |
| Or6y1 |
TTGTGTG |
TTGTG |
1: 174,276,838 (GRCm39) |
|
probably null |
Het |
| Osmr |
T |
A |
15: 6,850,485 (GRCm39) |
Y707F |
probably damaging |
Het |
| Pck1 |
G |
T |
2: 172,997,033 (GRCm39) |
R225L |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,191,708 (GRCm39) |
L354Q |
probably damaging |
Het |
| Rev3l |
C |
A |
10: 39,682,693 (GRCm39) |
Q300K |
probably benign |
Het |
| Rin3 |
T |
A |
12: 102,292,066 (GRCm39) |
C88S |
unknown |
Het |
| Slc37a4 |
T |
C |
9: 44,311,291 (GRCm39) |
V194A |
possibly damaging |
Het |
| Smpd4 |
T |
A |
16: 17,446,999 (GRCm39) |
H242Q |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,200,216 (GRCm39) |
I2804V |
possibly damaging |
Het |
| Srrm4 |
A |
C |
5: 116,587,680 (GRCm39) |
F359L |
unknown |
Het |
| Svs5 |
A |
G |
2: 164,079,692 (GRCm39) |
Y72H |
possibly damaging |
Het |
| Tmem158 |
T |
A |
9: 123,088,875 (GRCm39) |
T246S |
unknown |
Het |
| Ttn |
A |
G |
2: 76,633,735 (GRCm39) |
V14038A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,559,790 (GRCm39) |
I29537T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,626,069 (GRCm39) |
S14997P |
probably damaging |
Het |
| Vmn1r231 |
A |
T |
17: 21,110,893 (GRCm39) |
D7E |
probably benign |
Het |
| Vmn2r14 |
A |
G |
5: 109,368,420 (GRCm39) |
S191P |
probably benign |
Het |
| Zfp599 |
G |
T |
9: 22,161,111 (GRCm39) |
Y351* |
probably null |
Het |
| Zfp729a |
T |
A |
13: 67,769,918 (GRCm39) |
K104* |
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 |
|
R6149:Adgre1
|
UTSW |
17 |
57,752,018 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
|
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'- AGTAGCGTCTTCTTTTGCTTCA -3'
(R):5'- AGGTACTCCGTCTGAATCATCT -3'
Sequencing Primer
(F):5'- CCCTTTTTATCCTAGGGCTAGAGAG -3'
(R):5'- CGTCTGAATCATCTGACTGGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation