Incidental Mutation 'R5205:Adgre4'
| ID |
398478 |
| 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 |
042780-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5205 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56056984-56160662 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 56101727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 216
(E216*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025004]
|
| AlphaFold |
Q91ZE5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025004
AA Change: E216*
|
| SMART Domains |
Protein: ENSMUSP00000025004
Gene: ENSMUSG00000032915
AA Change: E216*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
G |
A |
18: 59,101,880 (GRCm39) |
R650Q |
probably damaging |
Het |
| Aldh6a1 |
T |
A |
12: 84,486,418 (GRCm39) |
M167L |
probably damaging |
Het |
| Asb16 |
G |
A |
11: 102,159,820 (GRCm39) |
D58N |
probably damaging |
Het |
| Cfap43 |
C |
A |
19: 47,885,987 (GRCm39) |
L209F |
possibly damaging |
Het |
| Cfh |
A |
G |
1: 140,071,708 (GRCm39) |
C327R |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,752,509 (GRCm39) |
N335K |
possibly damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,452,545 (GRCm39) |
E646G |
possibly damaging |
Het |
| Col6a6 |
A |
T |
9: 105,659,232 (GRCm39) |
V571D |
probably damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,427,432 (GRCm39) |
|
probably benign |
Het |
| Dennd1b |
T |
A |
1: 138,982,306 (GRCm39) |
S132T |
probably benign |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dnaaf2 |
C |
T |
12: 69,239,698 (GRCm39) |
V608I |
probably damaging |
Het |
| Edem3 |
A |
T |
1: 151,687,270 (GRCm39) |
D717V |
probably damaging |
Het |
| Fam135a |
T |
C |
1: 24,068,592 (GRCm39) |
N589S |
probably benign |
Het |
| Gm13991 |
G |
C |
2: 116,358,681 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv2-3 |
T |
C |
12: 113,574,895 (GRCm39) |
S87G |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kcna2 |
T |
C |
3: 107,004,462 (GRCm39) |
|
probably benign |
Het |
| Klra4 |
T |
A |
6: 130,039,080 (GRCm39) |
N104I |
probably damaging |
Het |
| Lrrc28 |
A |
G |
7: 67,181,516 (GRCm39) |
S240P |
probably benign |
Het |
| Majin |
T |
C |
19: 6,245,789 (GRCm39) |
I27T |
possibly damaging |
Het |
| Mfhas1 |
G |
A |
8: 36,058,161 (GRCm39) |
E879K |
probably benign |
Het |
| Mif-ps6 |
A |
T |
9: 14,756,768 (GRCm39) |
|
noncoding transcript |
Het |
| Msh4 |
A |
G |
3: 153,572,049 (GRCm39) |
L583P |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,471,302 (GRCm39) |
N1234K |
probably damaging |
Het |
| Or5b120 |
T |
C |
19: 13,480,163 (GRCm39) |
L152P |
probably damaging |
Het |
| Orm1 |
T |
C |
4: 63,262,929 (GRCm39) |
I32T |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Plppr2 |
A |
T |
9: 21,852,370 (GRCm39) |
T85S |
probably damaging |
Het |
| Ppp1r9b |
T |
A |
11: 94,892,124 (GRCm39) |
W604R |
probably benign |
Het |
| Prorp |
T |
A |
12: 55,351,226 (GRCm39) |
Y178* |
probably null |
Het |
| Prss56 |
G |
T |
1: 87,113,256 (GRCm39) |
D195Y |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,782,666 (GRCm39) |
|
probably benign |
Het |
| Rbm25 |
T |
A |
12: 83,719,643 (GRCm39) |
D554E |
probably benign |
Het |
| Rbm6 |
A |
G |
9: 107,665,542 (GRCm39) |
M618T |
probably benign |
Het |
| Slc17a5 |
A |
G |
9: 78,485,899 (GRCm39) |
V62A |
probably damaging |
Het |
| Slk |
T |
A |
19: 47,613,899 (GRCm39) |
N918K |
possibly damaging |
Het |
| Syne1 |
C |
A |
10: 5,002,295 (GRCm39) |
A8126S |
probably benign |
Het |
| Synj2 |
T |
C |
17: 5,991,793 (GRCm39) |
L23S |
probably damaging |
Het |
| Taar2 |
A |
C |
10: 23,816,874 (GRCm39) |
H138P |
probably benign |
Het |
| Taar7b |
A |
T |
10: 23,875,916 (GRCm39) |
E27V |
probably benign |
Het |
| Tbc1d2b |
A |
G |
9: 90,089,863 (GRCm39) |
Y889H |
probably damaging |
Het |
| Tmem43 |
T |
C |
6: 91,463,763 (GRCm39) |
I346T |
possibly damaging |
Het |
| Ttc3 |
T |
A |
16: 94,248,918 (GRCm39) |
C1139S |
probably benign |
Het |
| Txndc11 |
A |
G |
16: 10,946,529 (GRCm39) |
V94A |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,607,133 (GRCm39) |
H4009Q |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,155,964 (GRCm39) |
E407G |
possibly damaging |
Het |
| Ybx1 |
G |
T |
4: 119,136,348 (GRCm39) |
D261E |
probably damaging |
Het |
| Zfp985 |
A |
T |
4: 147,667,368 (GRCm39) |
I79F |
probably 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 |
|
|
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 |
|
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'- GGATAAGTCACCCTCTAAGTGATTTC -3'
(R):5'- GCCCTTCTGACAGTTGCTCAAC -3'
Sequencing Primer
(F):5'- AAGCAAGATTAATATCCTCATCATCG -3'
(R):5'- GTTGCTCAACTTCGTCTCCATG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation