Incidental Mutation 'R2570:Adgre4'
| ID |
252441 |
| 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 |
040428-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2570 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
56056984-56160662 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56085878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 59
(F59Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025004]
|
| AlphaFold |
Q91ZE5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025004
AA Change: F59Y
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000025004
Gene: ENSMUSG00000032915
AA Change: F59Y
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
A |
5: 121,768,267 (GRCm39) |
N763I |
probably damaging |
Het |
| Actr8 |
T |
C |
14: 29,709,239 (GRCm39) |
V281A |
probably damaging |
Het |
| Adam1b |
A |
T |
5: 121,639,811 (GRCm39) |
N411K |
probably damaging |
Het |
| Adamdec1 |
T |
A |
14: 68,816,657 (GRCm39) |
Q77L |
probably damaging |
Het |
| Akr1c18 |
T |
C |
13: 4,192,163 (GRCm39) |
N178S |
probably benign |
Het |
| Aldh1a7 |
T |
A |
19: 20,677,320 (GRCm39) |
T434S |
probably benign |
Het |
| Bcl10 |
T |
A |
3: 145,638,785 (GRCm39) |
N142K |
probably benign |
Het |
| C1qc |
T |
C |
4: 136,617,402 (GRCm39) |
I231M |
probably benign |
Het |
| Cacna1b |
A |
T |
2: 24,496,649 (GRCm39) |
L2307* |
probably null |
Het |
| Cadm2 |
G |
A |
16: 66,612,271 (GRCm39) |
S106L |
probably damaging |
Het |
| Cdc42bpa |
G |
A |
1: 179,977,742 (GRCm39) |
R1518Q |
possibly damaging |
Het |
| Cdk12 |
T |
G |
11: 98,094,618 (GRCm39) |
M142R |
possibly damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cspg4b |
C |
T |
13: 113,455,121 (GRCm39) |
T389I |
probably benign |
Het |
| Cyp2c50 |
C |
G |
19: 40,078,764 (GRCm39) |
H90D |
probably benign |
Het |
| Dach1 |
A |
G |
14: 98,138,847 (GRCm39) |
M480T |
probably benign |
Het |
| Dennd1a |
A |
T |
2: 37,734,795 (GRCm39) |
F57L |
probably damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,443,029 (GRCm39) |
F355L |
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,512,609 (GRCm39) |
R339G |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,624,490 (GRCm39) |
S840R |
probably damaging |
Het |
| Efna5 |
A |
T |
17: 63,188,023 (GRCm39) |
Y35N |
probably benign |
Het |
| Ehmt1 |
A |
G |
2: 24,705,753 (GRCm39) |
V811A |
probably damaging |
Het |
| Fam135a |
A |
T |
1: 24,061,045 (GRCm39) |
V1114E |
probably damaging |
Het |
| Frmd8 |
C |
A |
19: 5,924,740 (GRCm39) |
R28L |
probably damaging |
Het |
| Gm9936 |
A |
G |
5: 114,995,605 (GRCm39) |
|
probably benign |
Het |
| Hgsnat |
C |
T |
8: 26,435,280 (GRCm39) |
W618* |
probably null |
Het |
| Itgal |
T |
C |
7: 126,913,268 (GRCm39) |
F622L |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 34,130,865 (GRCm39) |
E451K |
probably damaging |
Het |
| Kat2a |
A |
T |
11: 100,601,648 (GRCm39) |
F256I |
probably damaging |
Het |
| Lama4 |
A |
T |
10: 38,951,354 (GRCm39) |
D1033V |
possibly damaging |
Het |
| Lama4 |
T |
A |
10: 38,982,043 (GRCm39) |
D1757E |
probably damaging |
Het |
| Laptm5 |
T |
C |
4: 130,659,358 (GRCm39) |
Y212H |
probably damaging |
Het |
| Lsm10 |
T |
C |
4: 125,991,716 (GRCm39) |
L24P |
probably damaging |
Het |
| Mtcl3 |
A |
T |
10: 29,022,761 (GRCm39) |
Q36L |
possibly damaging |
Het |
| Mtfp1 |
T |
C |
11: 4,044,504 (GRCm39) |
E27G |
probably damaging |
Het |
| Ncaph2 |
C |
A |
15: 89,254,678 (GRCm39) |
D399E |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,105,864 (GRCm39) |
|
probably null |
Het |
| Nek9 |
A |
C |
12: 85,379,320 (GRCm39) |
Y195* |
probably null |
Het |
| Npas1 |
T |
C |
7: 16,208,628 (GRCm39) |
D83G |
probably damaging |
Het |
| Nrsn2 |
A |
T |
2: 152,211,741 (GRCm39) |
F97I |
possibly damaging |
Het |
| Oas1c |
T |
C |
5: 120,943,503 (GRCm39) |
N10S |
probably benign |
Het |
| Or2ag12 |
A |
G |
7: 106,276,874 (GRCm39) |
I273T |
probably benign |
Het |
| Or55b10 |
T |
C |
7: 102,143,106 (GRCm39) |
N292S |
probably damaging |
Het |
| Or7e165 |
T |
A |
9: 19,695,305 (GRCm39) |
L292Q |
probably damaging |
Het |
| Pcdha4 |
A |
T |
18: 37,086,665 (GRCm39) |
T283S |
probably benign |
Het |
| Pdk1 |
A |
C |
2: 71,703,904 (GRCm39) |
D64A |
possibly damaging |
Het |
| Pramel17 |
T |
C |
4: 101,694,443 (GRCm39) |
T147A |
probably benign |
Het |
| Ptpdc1 |
C |
T |
13: 48,739,539 (GRCm39) |
A631T |
probably benign |
Het |
| Rasal2 |
G |
T |
1: 156,988,870 (GRCm39) |
A660E |
possibly damaging |
Het |
| Sgpp2 |
T |
A |
1: 78,336,787 (GRCm39) |
V55E |
possibly damaging |
Het |
| Shank2 |
A |
T |
7: 143,622,507 (GRCm39) |
I214F |
probably damaging |
Het |
| Slfn14 |
T |
C |
11: 83,174,433 (GRCm39) |
N186S |
probably benign |
Het |
| Sptbn5 |
A |
T |
2: 119,879,121 (GRCm39) |
|
noncoding transcript |
Het |
| Stradb |
C |
T |
1: 59,027,743 (GRCm39) |
T91I |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,927,721 (GRCm39) |
I359V |
probably benign |
Het |
| Tbl3 |
A |
T |
17: 24,922,290 (GRCm39) |
M405K |
possibly damaging |
Het |
| Tecta |
G |
T |
9: 42,243,848 (GRCm39) |
D2001E |
probably damaging |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Tgfbi |
T |
A |
13: 56,786,521 (GRCm39) |
|
probably null |
Het |
| Tmem132a |
A |
T |
19: 10,837,106 (GRCm39) |
L612Q |
probably null |
Het |
| Tnf |
T |
C |
17: 35,419,476 (GRCm39) |
N102S |
probably damaging |
Het |
| Trib3 |
A |
T |
2: 152,185,156 (GRCm39) |
V31D |
probably benign |
Het |
| Ube2q2 |
T |
A |
9: 55,099,140 (GRCm39) |
F248L |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,036,744 (GRCm39) |
V408A |
probably benign |
Het |
| Vmn1r159 |
T |
C |
7: 22,542,307 (GRCm39) |
M242V |
probably benign |
Het |
| Vmn2r105 |
A |
T |
17: 20,447,585 (GRCm39) |
L413H |
probably damaging |
Het |
| Zbtb2 |
T |
G |
10: 4,318,673 (GRCm39) |
N451T |
probably damaging |
Het |
| Zfp593 |
C |
A |
4: 133,972,869 (GRCm39) |
|
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 |
|
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 |
|
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'- GGTCTCCCAATTGAAATTTGACCAT -3'
(R):5'- AGGGACATTTTAAAATCAGGACCT -3'
Sequencing Primer
(F):5'- GATATGATTCAAAGGGCATG -3'
(R):5'- AAGCAAAACTTCTCCATGTTCTCTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation