Incidental Mutation 'R9303:Adgre1'
| ID |
705092 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R9303 (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 57748275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 492
(N492D)
|
| 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: N492D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000004850
Gene: ENSMUSG00000004730
AA Change: N492D
| 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: N492D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000083971
Gene: ENSMUSG00000004730
AA Change: N492D
| 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: 98.8%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,126,989 (GRCm39) |
I1227V |
probably benign |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Adamts17 |
T |
C |
7: 66,489,645 (GRCm39) |
L21P |
probably damaging |
Het |
| Adcy1 |
T |
C |
11: 7,094,766 (GRCm39) |
V564A |
probably damaging |
Het |
| Aldh1b1 |
G |
A |
4: 45,803,811 (GRCm39) |
V450M |
probably damaging |
Het |
| Arv1 |
T |
A |
8: 125,457,685 (GRCm39) |
H196Q |
probably damaging |
Het |
| Atp9a |
A |
T |
2: 168,517,163 (GRCm39) |
I390N |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,098,969 (GRCm39) |
I1277V |
|
Het |
| Capn10 |
T |
C |
1: 92,871,665 (GRCm39) |
|
probably null |
Het |
| Casq2 |
A |
G |
3: 102,052,700 (GRCm39) |
D404G |
unknown |
Het |
| Cenpf |
T |
C |
1: 189,392,271 (GRCm39) |
|
probably null |
Het |
| Cep295nl |
G |
A |
11: 118,224,766 (GRCm39) |
P26L |
possibly damaging |
Het |
| Chmp4c |
T |
G |
3: 10,454,974 (GRCm39) |
S214A |
probably benign |
Het |
| Chrna5 |
T |
C |
9: 54,912,156 (GRCm39) |
F319L |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 16,011,532 (GRCm39) |
T2507K |
probably benign |
Het |
| Ctnnd2 |
T |
C |
15: 30,967,037 (GRCm39) |
M996T |
probably damaging |
Het |
| Dbf4 |
T |
C |
5: 8,448,102 (GRCm39) |
T328A |
unknown |
Het |
| Ddc |
C |
T |
11: 11,779,132 (GRCm39) |
V331I |
probably benign |
Het |
| Fads2b |
A |
T |
2: 85,330,649 (GRCm39) |
C219* |
probably null |
Het |
| Fat1 |
T |
A |
8: 45,463,498 (GRCm39) |
W1347R |
probably damaging |
Het |
| Fbxw21 |
A |
G |
9: 108,986,727 (GRCm39) |
F51L |
probably benign |
Het |
| Gng2 |
G |
T |
14: 19,925,961 (GRCm39) |
H44N |
probably damaging |
Het |
| Hps5 |
G |
A |
7: 46,438,619 (GRCm39) |
T38I |
possibly damaging |
Het |
| Igf2 |
G |
A |
7: 142,208,153 (GRCm39) |
R64C |
probably damaging |
Het |
| Inpp4b |
C |
T |
8: 82,759,758 (GRCm39) |
A601V |
probably damaging |
Het |
| Kdm2a |
A |
G |
19: 4,395,606 (GRCm39) |
Y342H |
probably benign |
Het |
| Kidins220 |
C |
A |
12: 25,107,110 (GRCm39) |
T1430K |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,898,829 (GRCm39) |
C177R |
possibly damaging |
Het |
| Krt32 |
T |
C |
11: 99,972,029 (GRCm39) |
T440A |
probably benign |
Het |
| Kynu |
T |
A |
2: 43,569,768 (GRCm39) |
F350Y |
probably damaging |
Het |
| Lama4 |
T |
C |
10: 38,973,137 (GRCm39) |
L1568P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,618,574 (GRCm39) |
S281T |
|
Het |
| Or2y3 |
A |
T |
17: 38,393,629 (GRCm39) |
V80D |
probably damaging |
Het |
| Or5h23 |
A |
G |
16: 58,906,802 (GRCm39) |
S15P |
probably benign |
Het |
| Or8c19-ps1 |
C |
T |
9: 38,220,463 (GRCm39) |
T124M |
probably benign |
Het |
| Orc3 |
G |
A |
4: 34,607,181 (GRCm39) |
R50* |
probably null |
Het |
| Osbpl6 |
T |
A |
2: 76,378,716 (GRCm39) |
D124E |
probably damaging |
Het |
| Parp4 |
TG |
T |
14: 56,832,790 (GRCm39) |
|
probably null |
Het |
| Parp4 |
T |
C |
14: 56,852,224 (GRCm39) |
|
probably null |
Het |
| Pcdhb18 |
A |
C |
18: 37,625,004 (GRCm39) |
H778P |
probably benign |
Het |
| Polg |
A |
T |
7: 79,105,860 (GRCm39) |
Y710N |
probably benign |
Het |
| Ppp2r2b |
C |
A |
18: 42,779,025 (GRCm39) |
R370L |
possibly damaging |
Het |
| Raet1e |
C |
T |
10: 22,057,872 (GRCm39) |
T213I |
possibly damaging |
Het |
| Reln |
T |
A |
5: 22,193,705 (GRCm39) |
S1418C |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,285,689 (GRCm39) |
S427G |
probably benign |
Het |
| Rhobtb2 |
G |
A |
14: 70,025,376 (GRCm39) |
H633Y |
probably damaging |
Het |
| Serpina3i |
T |
C |
12: 104,234,881 (GRCm39) |
V404A |
probably damaging |
Het |
| Serpinb8 |
T |
C |
1: 107,526,769 (GRCm39) |
|
probably null |
Het |
| Sorl1 |
G |
T |
9: 41,900,739 (GRCm39) |
Q1658K |
probably damaging |
Het |
| Tmem26 |
G |
A |
10: 68,559,816 (GRCm39) |
W29* |
probably null |
Het |
| Togaram2 |
A |
G |
17: 71,996,408 (GRCm39) |
E137G |
probably damaging |
Het |
| Ttc39b |
A |
G |
4: 83,151,023 (GRCm39) |
L524S |
probably damaging |
Het |
| Usp43 |
T |
C |
11: 67,767,345 (GRCm39) |
N675S |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,268,439 (GRCm39) |
L10P |
possibly damaging |
Het |
| Zbtb1 |
G |
A |
12: 76,432,773 (GRCm39) |
R253Q |
probably damaging |
Het |
| Zfp354b |
T |
A |
11: 50,820,256 (GRCm39) |
R36S |
probably damaging |
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 |
|
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 |
|
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'- AGATGATCTCCCCATTCCAGT -3'
(R):5'- GCTGCCTGTACATAGAGCCA -3'
Sequencing Primer
(F):5'- CCCCTGTTCACTCATGATGTC -3'
(R):5'- GCCTGTACATAGAGCCATCTGC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation