Incidental Mutation 'R4222:Adgre4'
| ID |
368313 |
| 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 |
041042-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4222 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56056984-56160662 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56092121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 127
(Y127C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025004]
|
| AlphaFold |
Q91ZE5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025004
AA Change: Y127C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025004
Gene: ENSMUSG00000032915
AA Change: Y127C
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
91% (49/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
| Alkal1 |
A |
G |
1: 6,458,839 (GRCm39) |
K76R |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,391,969 (GRCm39) |
S1807G |
probably benign |
Het |
| Bhmt-ps1 |
T |
A |
4: 26,369,352 (GRCm39) |
|
noncoding transcript |
Het |
| Brd10 |
A |
T |
19: 29,696,149 (GRCm39) |
S1115T |
probably benign |
Het |
| Cyp3a11 |
A |
T |
5: 145,797,276 (GRCm39) |
Y368N |
probably damaging |
Het |
| Gar1 |
A |
T |
3: 129,624,455 (GRCm39) |
|
probably benign |
Het |
| Gm5265 |
A |
T |
1: 169,281,370 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7964 |
T |
G |
7: 83,406,030 (GRCm39) |
N281K |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,187,332 (GRCm39) |
|
probably benign |
Het |
| H1f5 |
A |
T |
13: 21,964,147 (GRCm39) |
|
probably benign |
Het |
| Hapln4 |
T |
A |
8: 70,539,610 (GRCm39) |
W214R |
probably damaging |
Het |
| Ift56 |
A |
G |
6: 38,372,010 (GRCm39) |
Y200C |
probably damaging |
Het |
| Irgq |
C |
A |
7: 24,233,050 (GRCm39) |
A297D |
possibly damaging |
Het |
| Kri1 |
T |
C |
9: 21,192,359 (GRCm39) |
E145G |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
| Mrpl22 |
T |
A |
11: 58,062,693 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
T |
A |
7: 97,722,436 (GRCm39) |
Q1163L |
possibly damaging |
Het |
| Nipsnap3a |
T |
A |
4: 52,997,251 (GRCm39) |
D172E |
probably benign |
Het |
| Nrxn3 |
G |
T |
12: 89,499,762 (GRCm39) |
G718* |
probably null |
Het |
| Olfm3 |
C |
T |
3: 114,883,820 (GRCm39) |
Q41* |
probably null |
Het |
| Or52z12 |
A |
G |
7: 103,233,966 (GRCm39) |
T246A |
probably damaging |
Het |
| Or8u8 |
G |
T |
2: 86,012,341 (GRCm39) |
T38K |
probably damaging |
Het |
| Parm1 |
G |
A |
5: 91,741,726 (GRCm39) |
M31I |
probably benign |
Het |
| Phc3 |
A |
T |
3: 30,990,968 (GRCm39) |
S383R |
probably damaging |
Het |
| Pkn2 |
A |
T |
3: 142,499,627 (GRCm39) |
L950* |
probably null |
Het |
| Plec |
C |
T |
15: 76,061,519 (GRCm39) |
R2671H |
probably damaging |
Het |
| Ptbp1 |
T |
C |
10: 79,695,047 (GRCm39) |
I125T |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Ptk7 |
A |
T |
17: 46,885,389 (GRCm39) |
M679K |
probably benign |
Het |
| Ptx3 |
C |
T |
3: 66,132,127 (GRCm39) |
T216I |
probably damaging |
Het |
| Rrp8 |
T |
C |
7: 105,383,229 (GRCm39) |
I346V |
possibly damaging |
Het |
| Rsrc1 |
A |
G |
3: 66,901,900 (GRCm39) |
K17E |
unknown |
Het |
| Ryr2 |
T |
A |
13: 11,752,759 (GRCm39) |
E1854V |
possibly damaging |
Het |
| Semp2l2a |
T |
C |
8: 13,888,061 (GRCm39) |
E10G |
probably benign |
Het |
| Slc25a45 |
A |
T |
19: 5,930,146 (GRCm39) |
I39F |
probably damaging |
Het |
| Spag5 |
G |
A |
11: 78,195,337 (GRCm39) |
V215I |
probably damaging |
Het |
| Ston1 |
A |
G |
17: 88,944,199 (GRCm39) |
Y535C |
probably damaging |
Het |
| Tbc1d14 |
A |
T |
5: 36,650,452 (GRCm39) |
S395T |
probably benign |
Het |
| Tlr11 |
C |
T |
14: 50,599,306 (GRCm39) |
P431S |
probably damaging |
Het |
| Trerf1 |
G |
T |
17: 47,625,727 (GRCm39) |
|
noncoding transcript |
Het |
| Trim43b |
T |
A |
9: 88,972,692 (GRCm39) |
Q154L |
probably benign |
Het |
| Vmn1r49 |
A |
G |
6: 90,049,228 (GRCm39) |
F258S |
probably benign |
Het |
| Vmn1r-ps103 |
C |
A |
13: 22,626,198 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r14 |
A |
G |
5: 109,364,149 (GRCm39) |
M589T |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,765,952 (GRCm39) |
T20S |
probably benign |
Het |
| Zbtb5 |
A |
G |
4: 44,993,855 (GRCm39) |
|
probably null |
Het |
| Zfp35 |
T |
G |
18: 24,136,246 (GRCm39) |
F197V |
possibly damaging |
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 |
|
R1452:Adgre4
|
UTSW |
17 |
56,091,996 (GRCm39) |
missense |
probably benign |
0.35 |
|
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 |
|
|
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'- AAGTCTGGGAGTAGAGGCTTTATAG -3'
(R):5'- GGAAGCAGTTATTTGGTCCTAGAG -3'
Sequencing Primer
(F):5'- GGGAGTAGAGGCTTTATAGTTAAAAG -3'
(R):5'- GGTCCTAGAGATTAAATGTGATTGC -3'
|
| Posted On |
2016-01-25 |
Incidental Mutation