Incidental Mutation 'R8007:Adgre4'
| ID |
616713 |
| 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 |
046047-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8007 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56056984-56160662 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56121233 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 433
(H433L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025004]
|
| AlphaFold |
Q91ZE5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025004
AA Change: H433L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025004
Gene: ENSMUSG00000032915
AA Change: H433L
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,647,845 (GRCm39) |
|
probably benign |
Het |
| A430033K04Rik |
T |
C |
5: 138,644,901 (GRCm39) |
I262T |
probably benign |
Het |
| Acacb |
A |
G |
5: 114,356,935 (GRCm39) |
R1289G |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,431,585 (GRCm39) |
F5948L |
probably benign |
Het |
| Adtrp |
A |
T |
13: 41,969,707 (GRCm39) |
D97E |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,929,963 (GRCm39) |
T543A |
probably benign |
Het |
| Ank2 |
G |
C |
3: 126,730,096 (GRCm39) |
|
probably benign |
Het |
| Cacna2d4 |
C |
T |
6: 119,289,405 (GRCm39) |
A813V |
probably benign |
Het |
| Cc2d2a |
T |
A |
5: 43,863,442 (GRCm39) |
Y684N |
possibly damaging |
Het |
| Cenpf |
G |
A |
1: 189,379,144 (GRCm39) |
P35L |
|
Het |
| Chtf18 |
A |
G |
17: 25,944,508 (GRCm39) |
F281L |
probably damaging |
Het |
| Clstn1 |
T |
C |
4: 149,716,305 (GRCm39) |
V257A |
probably damaging |
Het |
| Cnmd |
A |
T |
14: 79,875,406 (GRCm39) |
V338E |
probably damaging |
Het |
| Col6a3 |
A |
C |
1: 90,705,179 (GRCm39) |
F2848V |
unknown |
Het |
| Corin |
T |
C |
5: 72,473,446 (GRCm39) |
S888G |
probably damaging |
Het |
| Ctss |
A |
T |
3: 95,457,465 (GRCm39) |
S309C |
probably null |
Het |
| Dmxl2 |
G |
A |
9: 54,290,975 (GRCm39) |
Q2492* |
probably null |
Het |
| Exoc7 |
C |
T |
11: 116,197,465 (GRCm39) |
R12Q |
possibly damaging |
Het |
| F12 |
A |
G |
13: 55,566,265 (GRCm39) |
I509T |
probably damaging |
Het |
| F13b |
A |
G |
1: 139,434,680 (GRCm39) |
K149E |
probably benign |
Het |
| Fasn |
A |
G |
11: 120,700,353 (GRCm39) |
I2159T |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 129,765,719 (GRCm39) |
Y831* |
probably null |
Het |
| Foxp1 |
A |
T |
6: 98,918,595 (GRCm39) |
S514R |
unknown |
Het |
| Gm11569 |
A |
G |
11: 99,689,688 (GRCm39) |
S4P |
unknown |
Het |
| Gria4 |
T |
C |
9: 4,503,740 (GRCm39) |
|
probably benign |
Het |
| Hnrnpul2 |
T |
A |
19: 8,798,179 (GRCm39) |
|
probably null |
Het |
| Ibtk |
A |
T |
9: 85,572,770 (GRCm39) |
D1257E |
probably benign |
Het |
| Ip6k2 |
T |
C |
9: 108,682,955 (GRCm39) |
V355A |
probably benign |
Het |
| Kcnd2 |
G |
A |
6: 21,217,073 (GRCm39) |
R259H |
probably damaging |
Het |
| Kcnj2 |
A |
C |
11: 110,963,884 (GRCm39) |
E425D |
probably benign |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lgi2 |
C |
A |
5: 52,723,375 (GRCm39) |
A25S |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,336,849 (GRCm39) |
T1308A |
probably benign |
Het |
| Ly6g2 |
A |
G |
15: 75,088,552 (GRCm39) |
T7A |
probably benign |
Het |
| Matn2 |
A |
T |
15: 34,426,315 (GRCm39) |
N609I |
probably benign |
Het |
| Mocs2 |
T |
A |
13: 114,957,409 (GRCm39) |
S9T |
possibly damaging |
Het |
| Nebl |
T |
A |
2: 17,375,300 (GRCm39) |
I102F |
|
Het |
| Nudt19 |
A |
G |
7: 35,255,045 (GRCm39) |
V62A |
probably benign |
Het |
| Or10u4 |
T |
A |
10: 129,801,744 (GRCm39) |
D269V |
possibly damaging |
Het |
| Or12k8 |
T |
A |
2: 36,974,855 (GRCm39) |
R302W |
probably damaging |
Het |
| Or4a68 |
C |
T |
2: 89,270,684 (GRCm39) |
|
|
Het |
| Or4k42 |
A |
T |
2: 111,320,068 (GRCm39) |
V145E |
probably damaging |
Het |
| Pacrg |
A |
G |
17: 11,058,919 (GRCm39) |
|
probably benign |
Het |
| Pappa2 |
A |
G |
1: 158,609,874 (GRCm39) |
I1529T |
probably damaging |
Het |
| Pcdhga7 |
A |
T |
18: 37,849,946 (GRCm39) |
H651L |
probably benign |
Het |
| Plch2 |
A |
G |
4: 155,087,288 (GRCm39) |
L321P |
probably damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,443,565 (GRCm39) |
S549T |
possibly damaging |
Het |
| Rtel1 |
T |
A |
2: 180,976,767 (GRCm39) |
N254K |
probably damaging |
Het |
| Rtl1 |
T |
C |
12: 109,558,060 (GRCm39) |
N1260D |
possibly damaging |
Het |
| Samd7 |
T |
A |
3: 30,812,531 (GRCm39) |
W324R |
probably damaging |
Het |
| Serpinb9e |
A |
G |
13: 33,435,605 (GRCm39) |
I13V |
probably benign |
Het |
| Skint10 |
A |
G |
4: 112,568,865 (GRCm39) |
L284S |
possibly damaging |
Het |
| Slc25a38 |
T |
A |
9: 119,951,208 (GRCm39) |
I247K |
possibly damaging |
Het |
| Smarce1 |
G |
C |
11: 99,115,876 (GRCm39) |
N48K |
possibly damaging |
Het |
| Stmn4 |
T |
G |
14: 66,593,032 (GRCm39) |
|
probably benign |
Het |
| Stt3a |
G |
C |
9: 36,653,065 (GRCm39) |
T539R |
probably damaging |
Het |
| Tab1 |
G |
A |
15: 80,042,969 (GRCm39) |
V388I |
possibly damaging |
Het |
| Tcf12 |
G |
C |
9: 71,841,905 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Trp53inp1 |
T |
C |
4: 11,164,525 (GRCm39) |
F23S |
probably damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,324 (GRCm39) |
L223M |
probably benign |
Het |
| Yae1d1 |
G |
A |
13: 18,164,329 (GRCm39) |
S96L |
probably damaging |
Het |
| Zfp142 |
T |
C |
1: 74,610,655 (GRCm39) |
I1047V |
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 |
|
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 |
|
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'- AGCAAAATGTCACAGAATCCTG -3'
(R):5'- TTCTTCTCGCACACATACACAG -3'
Sequencing Primer
(F):5'- AGAATCCTGTTGTGGTACCAC -3'
(R):5'- CACAGACACTATTCTTACTGGTTGTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation