Incidental Mutation 'R1452:Adgre4'
ID |
161104 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgre4
|
Ensembl Gene |
ENSMUSG00000032915 |
Gene Name |
adhesion G protein-coupled receptor E4 |
Synonyms |
EGF-TM7, Gpr127, FIRE, Emr4, D17Ertd479e |
MMRRC Submission |
039507-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1452 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
56056984-56160662 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 56091996 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 85
(E85D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025004
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025004]
|
AlphaFold |
Q91ZE5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025004
AA Change: E85D
PolyPhen 2
Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000025004 Gene: ENSMUSG00000032915 AA Change: E85D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
Blast:EGF_like
|
38 |
76 |
2e-10 |
BLAST |
Pfam:EGF_CA
|
77 |
117 |
3.6e-9 |
PFAM |
GPS
|
288 |
338 |
4.03e-12 |
SMART |
Pfam:7tm_2
|
343 |
588 |
5.7e-57 |
PFAM |
low complexity region
|
613 |
628 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.5%
|
Validation Efficiency |
99% (70/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,655,015 (GRCm39) |
I1446M |
probably benign |
Het |
Acaca |
T |
A |
11: 84,185,885 (GRCm39) |
|
probably benign |
Het |
Akt3 |
A |
T |
1: 176,958,633 (GRCm39) |
Y26N |
possibly damaging |
Het |
Arl15 |
T |
C |
13: 114,104,319 (GRCm39) |
V132A |
probably benign |
Het |
Atp6v1h |
A |
G |
1: 5,168,360 (GRCm39) |
|
probably benign |
Het |
Atrip |
T |
A |
9: 108,901,727 (GRCm39) |
D110V |
probably damaging |
Het |
Bahcc1 |
T |
G |
11: 120,173,065 (GRCm39) |
|
probably benign |
Het |
Cd53 |
C |
T |
3: 106,676,275 (GRCm39) |
G31S |
probably damaging |
Het |
Cdk14 |
T |
C |
5: 4,938,927 (GRCm39) |
S404G |
possibly damaging |
Het |
Cers3 |
A |
T |
7: 66,433,152 (GRCm39) |
K156N |
probably damaging |
Het |
Colgalt2 |
C |
A |
1: 152,379,904 (GRCm39) |
L448M |
probably damaging |
Het |
Cox15 |
G |
T |
19: 43,735,344 (GRCm39) |
T141K |
probably damaging |
Het |
Csnk2a2 |
C |
T |
8: 96,184,003 (GRCm39) |
|
probably benign |
Het |
Cyp2b10 |
A |
T |
7: 25,624,813 (GRCm39) |
|
probably benign |
Het |
Cyp2c55 |
A |
G |
19: 38,999,534 (GRCm39) |
Y80C |
probably damaging |
Het |
Depdc1a |
A |
G |
3: 159,232,328 (GRCm39) |
Y693C |
possibly damaging |
Het |
Des |
T |
C |
1: 75,340,121 (GRCm39) |
S343P |
probably damaging |
Het |
Dync1i2 |
T |
C |
2: 71,080,207 (GRCm39) |
|
probably benign |
Het |
Eif3m |
T |
A |
2: 104,837,122 (GRCm39) |
Q199L |
probably damaging |
Het |
Emsy |
G |
T |
7: 98,249,881 (GRCm39) |
T802K |
probably damaging |
Het |
Endov |
A |
G |
11: 119,382,651 (GRCm39) |
T33A |
probably damaging |
Het |
Epb41l5 |
G |
A |
1: 119,476,896 (GRCm39) |
T728I |
probably damaging |
Het |
Fbxo39 |
A |
G |
11: 72,209,228 (GRCm39) |
I363V |
probably benign |
Het |
Gm8674 |
C |
T |
13: 50,054,553 (GRCm39) |
|
noncoding transcript |
Het |
Il6st |
T |
A |
13: 112,617,998 (GRCm39) |
N137K |
possibly damaging |
Het |
Inf2 |
A |
G |
12: 112,567,778 (GRCm39) |
N136S |
probably damaging |
Het |
Iqub |
A |
T |
6: 24,491,558 (GRCm39) |
I376N |
probably benign |
Het |
Kansl3 |
A |
G |
1: 36,393,874 (GRCm39) |
|
probably benign |
Het |
Kbtbd2 |
A |
T |
6: 56,758,909 (GRCm39) |
H71Q |
probably damaging |
Het |
Lgals8 |
G |
T |
13: 12,468,208 (GRCm39) |
Y140* |
probably null |
Het |
Mab21l4 |
T |
C |
1: 93,080,661 (GRCm39) |
Y415C |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,387,791 (GRCm39) |
I924L |
probably benign |
Het |
Mcoln2 |
A |
T |
3: 145,887,569 (GRCm39) |
T329S |
possibly damaging |
Het |
Mex3d |
A |
T |
10: 80,217,354 (GRCm39) |
L621Q |
probably damaging |
Het |
Mmut |
A |
G |
17: 41,248,359 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
T |
C |
11: 62,225,457 (GRCm39) |
H1038R |
probably damaging |
Het |
Neb |
A |
G |
2: 52,161,309 (GRCm39) |
|
probably null |
Het |
Ngrn |
A |
G |
7: 79,914,520 (GRCm39) |
T224A |
probably benign |
Het |
Nin |
G |
A |
12: 70,064,424 (GRCm39) |
R2019* |
probably null |
Het |
Nphp4 |
C |
G |
4: 152,631,475 (GRCm39) |
Q792E |
probably damaging |
Het |
Or13e8 |
C |
T |
4: 43,696,823 (GRCm39) |
V117M |
probably benign |
Het |
Or2z9 |
C |
T |
8: 72,854,020 (GRCm39) |
Q139* |
probably null |
Het |
Or4c3d |
C |
T |
2: 89,882,015 (GRCm39) |
V218I |
possibly damaging |
Het |
Or5d38 |
C |
T |
2: 87,954,655 (GRCm39) |
V225I |
probably benign |
Het |
Or8k3 |
T |
A |
2: 86,058,799 (GRCm39) |
N172I |
probably damaging |
Het |
Pde4dip |
C |
A |
3: 97,631,418 (GRCm39) |
V1164L |
probably damaging |
Het |
Plppr1 |
A |
G |
4: 49,301,067 (GRCm39) |
|
probably benign |
Het |
Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
Ppp2r5e |
A |
G |
12: 75,516,310 (GRCm39) |
|
probably benign |
Het |
Prim2 |
T |
A |
1: 33,669,485 (GRCm39) |
E163D |
probably benign |
Het |
Prrc2b |
A |
T |
2: 32,084,997 (GRCm39) |
D296V |
probably damaging |
Het |
Pter |
A |
G |
2: 12,983,432 (GRCm39) |
|
probably benign |
Het |
Resf1 |
A |
T |
6: 149,228,130 (GRCm39) |
K392I |
probably damaging |
Het |
Robo2 |
C |
A |
16: 73,758,798 (GRCm39) |
V662L |
probably damaging |
Het |
Sirpd |
G |
T |
3: 15,397,212 (GRCm39) |
T24K |
unknown |
Het |
Slco1b2 |
A |
T |
6: 141,617,926 (GRCm39) |
I424F |
probably benign |
Het |
Snx29 |
A |
T |
16: 11,449,335 (GRCm39) |
H260L |
probably damaging |
Het |
Stil |
A |
G |
4: 114,896,392 (GRCm39) |
N959S |
probably benign |
Het |
Taar8c |
A |
T |
10: 23,977,508 (GRCm39) |
D101E |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trpc6 |
G |
A |
9: 8,653,148 (GRCm39) |
M573I |
probably damaging |
Het |
Tsr1 |
A |
T |
11: 74,790,425 (GRCm39) |
D171V |
probably benign |
Het |
Ube4b |
T |
C |
4: 149,455,626 (GRCm39) |
T348A |
probably damaging |
Het |
Vmn1r85 |
A |
T |
7: 12,818,808 (GRCm39) |
I112N |
probably damaging |
Het |
Vps36 |
A |
G |
8: 22,708,226 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
G |
A |
5: 102,085,604 (GRCm39) |
A630V |
possibly damaging |
Het |
Wdsub1 |
A |
T |
2: 59,707,144 (GRCm39) |
D14E |
probably null |
Het |
Ylpm1 |
T |
C |
12: 85,077,157 (GRCm39) |
I1294T |
possibly damaging |
Het |
Zdhhc17 |
A |
G |
10: 110,790,936 (GRCm39) |
F378L |
probably benign |
Het |
|
Other mutations in Adgre4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Adgre4
|
APN |
17 |
56,098,915 (GRCm39) |
splice site |
probably benign |
|
IGL00228:Adgre4
|
APN |
17 |
56,109,135 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00572:Adgre4
|
APN |
17 |
56,127,648 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01404:Adgre4
|
APN |
17 |
56,104,639 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL01420:Adgre4
|
APN |
17 |
56,106,785 (GRCm39) |
splice site |
probably benign |
|
IGL01501:Adgre4
|
APN |
17 |
56,109,002 (GRCm39) |
splice site |
probably benign |
|
IGL01510:Adgre4
|
APN |
17 |
56,125,760 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01554:Adgre4
|
APN |
17 |
56,124,090 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01607:Adgre4
|
APN |
17 |
56,101,748 (GRCm39) |
splice site |
probably benign |
|
IGL01767:Adgre4
|
APN |
17 |
56,104,740 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02253:Adgre4
|
APN |
17 |
56,067,573 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02358:Adgre4
|
APN |
17 |
56,150,209 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02466:Adgre4
|
APN |
17 |
56,121,188 (GRCm39) |
missense |
probably benign |
0.42 |
IGL03057:Adgre4
|
APN |
17 |
56,106,602 (GRCm39) |
splice site |
probably benign |
|
R0070:Adgre4
|
UTSW |
17 |
56,109,154 (GRCm39) |
missense |
probably damaging |
0.98 |
R0070:Adgre4
|
UTSW |
17 |
56,109,154 (GRCm39) |
missense |
probably damaging |
0.98 |
R0111:Adgre4
|
UTSW |
17 |
56,124,073 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0311:Adgre4
|
UTSW |
17 |
56,109,010 (GRCm39) |
missense |
probably benign |
0.36 |
R0366:Adgre4
|
UTSW |
17 |
56,099,001 (GRCm39) |
nonsense |
probably null |
|
R0415:Adgre4
|
UTSW |
17 |
56,159,288 (GRCm39) |
missense |
probably benign |
0.03 |
R0465:Adgre4
|
UTSW |
17 |
56,092,137 (GRCm39) |
splice site |
probably benign |
|
R0619:Adgre4
|
UTSW |
17 |
56,127,679 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0685:Adgre4
|
UTSW |
17 |
56,099,035 (GRCm39) |
missense |
probably benign |
0.05 |
R0724:Adgre4
|
UTSW |
17 |
56,159,281 (GRCm39) |
missense |
probably benign |
0.00 |
R0835:Adgre4
|
UTSW |
17 |
56,106,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R1330:Adgre4
|
UTSW |
17 |
56,085,814 (GRCm39) |
missense |
probably benign |
0.36 |
R1960:Adgre4
|
UTSW |
17 |
56,098,497 (GRCm39) |
missense |
probably benign |
|
R1961:Adgre4
|
UTSW |
17 |
56,098,497 (GRCm39) |
missense |
probably benign |
|
R2046:Adgre4
|
UTSW |
17 |
56,085,847 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2421:Adgre4
|
UTSW |
17 |
56,085,872 (GRCm39) |
missense |
probably benign |
0.10 |
R2570:Adgre4
|
UTSW |
17 |
56,085,878 (GRCm39) |
missense |
possibly damaging |
0.54 |
R3162:Adgre4
|
UTSW |
17 |
56,109,218 (GRCm39) |
splice site |
probably benign |
|
R4222:Adgre4
|
UTSW |
17 |
56,092,121 (GRCm39) |
missense |
probably damaging |
1.00 |
R4526:Adgre4
|
UTSW |
17 |
56,092,016 (GRCm39) |
nonsense |
probably null |
|
R4631:Adgre4
|
UTSW |
17 |
56,121,305 (GRCm39) |
missense |
probably null |
1.00 |
R4689:Adgre4
|
UTSW |
17 |
56,109,096 (GRCm39) |
missense |
probably damaging |
1.00 |
R4701:Adgre4
|
UTSW |
17 |
56,091,971 (GRCm39) |
missense |
probably damaging |
1.00 |
R4792:Adgre4
|
UTSW |
17 |
56,098,491 (GRCm39) |
missense |
probably benign |
0.00 |
R5205:Adgre4
|
UTSW |
17 |
56,101,727 (GRCm39) |
nonsense |
probably null |
|
R5210:Adgre4
|
UTSW |
17 |
56,092,029 (GRCm39) |
missense |
probably damaging |
0.97 |
R5358:Adgre4
|
UTSW |
17 |
56,125,758 (GRCm39) |
missense |
probably benign |
0.00 |
R5873:Adgre4
|
UTSW |
17 |
56,159,282 (GRCm39) |
missense |
probably benign |
0.13 |
R6025:Adgre4
|
UTSW |
17 |
56,099,013 (GRCm39) |
missense |
probably benign |
0.00 |
R6257:Adgre4
|
UTSW |
17 |
56,109,133 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6426:Adgre4
|
UTSW |
17 |
56,109,196 (GRCm39) |
missense |
probably benign |
0.18 |
R6440:Adgre4
|
UTSW |
17 |
56,101,744 (GRCm39) |
critical splice donor site |
probably null |
|
R6484:Adgre4
|
UTSW |
17 |
56,109,036 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6680:Adgre4
|
UTSW |
17 |
56,098,959 (GRCm39) |
missense |
probably benign |
0.09 |
R7086:Adgre4
|
UTSW |
17 |
56,127,649 (GRCm39) |
missense |
probably benign |
0.00 |
R7442:Adgre4
|
UTSW |
17 |
56,159,340 (GRCm39) |
missense |
probably benign |
0.04 |
R7467:Adgre4
|
UTSW |
17 |
56,098,952 (GRCm39) |
missense |
probably benign |
0.00 |
R7875:Adgre4
|
UTSW |
17 |
56,099,016 (GRCm39) |
missense |
probably benign |
0.00 |
R8007:Adgre4
|
UTSW |
17 |
56,121,233 (GRCm39) |
missense |
probably damaging |
0.99 |
R8096:Adgre4
|
UTSW |
17 |
56,127,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R8172:Adgre4
|
UTSW |
17 |
56,104,769 (GRCm39) |
missense |
probably benign |
0.00 |
R8512:Adgre4
|
UTSW |
17 |
56,125,760 (GRCm39) |
critical splice donor site |
probably null |
|
R8972:Adgre4
|
UTSW |
17 |
56,109,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R9018:Adgre4
|
UTSW |
17 |
56,098,993 (GRCm39) |
missense |
probably benign |
0.00 |
R9049:Adgre4
|
UTSW |
17 |
56,092,094 (GRCm39) |
missense |
probably benign |
0.05 |
S24628:Adgre4
|
UTSW |
17 |
56,159,288 (GRCm39) |
missense |
probably benign |
0.03 |
X0010:Adgre4
|
UTSW |
17 |
56,121,308 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Adgre4
|
UTSW |
17 |
56,121,152 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTGTCTAGTAGACTGATGCCTACCTCAT -3'
(R):5'- CAGTGTTGTAGCTGTCACAAGCTCT -3'
Sequencing Primer
(F):5'- ggaaatgacataactccacagac -3'
(R):5'- TGTAGCTGTCACAAGCTCTACTAAC -3'
|
Posted On |
2014-03-14 |