Incidental Mutation 'R9049:Adgre4'
| ID |
688270 |
| 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 |
068875-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9049 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56056984-56160662 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56092094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 118
(I118T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025004]
|
| AlphaFold |
Q91ZE5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025004
AA Change: I118T
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000025004
Gene: ENSMUSG00000032915
AA Change: I118T
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
A |
G |
1: 120,115,900 (GRCm39) |
I118V |
probably null |
Het |
| Abcc9 |
A |
G |
6: 142,628,658 (GRCm39) |
L362P |
probably damaging |
Het |
| Adam7 |
C |
A |
14: 68,762,674 (GRCm39) |
V184F |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,114,597 (GRCm39) |
L3292P |
|
Het |
| Akr1b10 |
A |
G |
6: 34,373,561 (GRCm39) |
E308G |
possibly damaging |
Het |
| Aopep |
A |
G |
13: 63,208,852 (GRCm39) |
Y323C |
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,914,671 (GRCm39) |
V1767A |
probably benign |
Het |
| Bpifb3 |
C |
A |
2: 153,767,810 (GRCm39) |
N294K |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,096 (GRCm39) |
N182S |
probably benign |
Het |
| C9orf72 |
A |
G |
4: 35,192,964 (GRCm39) |
I455T |
unknown |
Het |
| Camkmt |
A |
G |
17: 85,709,912 (GRCm39) |
I205M |
possibly damaging |
Het |
| Ccdc88b |
C |
T |
19: 6,826,442 (GRCm39) |
R1091Q |
probably benign |
Het |
| Cfap58 |
A |
T |
19: 48,015,157 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
T |
A |
3: 144,733,143 (GRCm39) |
I122L |
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,707,066 (GRCm39) |
S2623C |
unknown |
Het |
| Cpne5 |
A |
G |
17: 29,379,332 (GRCm39) |
S484P |
probably damaging |
Het |
| Cyp4f39 |
T |
A |
17: 32,705,965 (GRCm39) |
L352Q |
probably damaging |
Het |
| Dcun1d1 |
T |
C |
3: 35,951,998 (GRCm39) |
N183D |
probably benign |
Het |
| Dgkg |
A |
G |
16: 22,419,338 (GRCm39) |
V54A |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,443,275 (GRCm39) |
D561E |
probably benign |
Het |
| Dnah6 |
A |
C |
6: 73,119,275 (GRCm39) |
L1536R |
probably damaging |
Het |
| Gm21834 |
G |
A |
17: 58,048,826 (GRCm39) |
T130I |
possibly damaging |
Het |
| Hectd4 |
T |
A |
5: 121,451,955 (GRCm39) |
V434E |
possibly damaging |
Het |
| Htr3a |
C |
A |
9: 48,811,087 (GRCm39) |
V459L |
probably damaging |
Het |
| Lonp2 |
T |
C |
8: 87,435,735 (GRCm39) |
V657A |
probably benign |
Het |
| Mdfi |
C |
A |
17: 48,135,479 (GRCm39) |
V84L |
probably damaging |
Het |
| Mdm1 |
C |
T |
10: 117,982,605 (GRCm39) |
T80M |
probably benign |
Het |
| Muc5ac |
A |
C |
7: 141,362,712 (GRCm39) |
I2008L |
unknown |
Het |
| Nomo1 |
A |
G |
7: 45,715,597 (GRCm39) |
D681G |
probably benign |
Het |
| Or10g9 |
G |
T |
9: 39,911,919 (GRCm39) |
N201K |
possibly damaging |
Het |
| Or14j6 |
G |
A |
17: 38,214,764 (GRCm39) |
W109* |
probably null |
Het |
| Or1af1 |
C |
G |
2: 37,109,959 (GRCm39) |
H153D |
probably damaging |
Het |
| Or1p1c |
A |
G |
11: 74,161,115 (GRCm39) |
K300R |
possibly damaging |
Het |
| Or5h25 |
T |
G |
16: 58,930,763 (GRCm39) |
D70A |
probably damaging |
Het |
| Or5m5 |
A |
G |
2: 85,814,235 (GRCm39) |
E17G |
possibly damaging |
Het |
| Or7e169 |
T |
C |
9: 19,757,045 (GRCm39) |
Y290C |
probably damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,152,710 (GRCm39) |
|
probably benign |
Het |
| Pipox |
A |
G |
11: 77,772,380 (GRCm39) |
I330T |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,819,890 (GRCm39) |
T676S |
unknown |
Het |
| Pld3 |
C |
T |
7: 27,235,293 (GRCm39) |
V312M |
possibly damaging |
Het |
| Pnisr |
T |
A |
4: 21,854,391 (GRCm39) |
W12R |
unknown |
Het |
| Polr3e |
A |
G |
7: 120,538,462 (GRCm39) |
K410R |
probably benign |
Het |
| Ppif |
G |
T |
14: 25,694,836 (GRCm39) |
V61L |
possibly damaging |
Het |
| Pramel5 |
T |
C |
4: 144,000,486 (GRCm39) |
N30S |
probably benign |
Het |
| Prex2 |
T |
G |
1: 11,256,130 (GRCm39) |
L1167R |
probably damaging |
Het |
| Prkacb |
A |
T |
3: 146,461,518 (GRCm39) |
|
probably benign |
Het |
| Prl3a1 |
T |
A |
13: 27,460,167 (GRCm39) |
L217H |
probably damaging |
Het |
| Prop1 |
G |
C |
11: 50,842,948 (GRCm39) |
Q80E |
probably damaging |
Het |
| Psma1 |
T |
C |
7: 113,865,764 (GRCm39) |
I214V |
probably benign |
Het |
| Ptgfr |
T |
A |
3: 151,541,404 (GRCm39) |
I35F |
probably benign |
Het |
| Rcvrn |
A |
T |
11: 67,586,568 (GRCm39) |
Y109F |
probably benign |
Het |
| Repin1 |
A |
G |
6: 48,574,646 (GRCm39) |
D525G |
possibly damaging |
Het |
| Slc12a2 |
A |
T |
18: 58,054,863 (GRCm39) |
R835* |
probably null |
Het |
| Sqle |
T |
C |
15: 59,189,711 (GRCm39) |
F118L |
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,510,418 (GRCm39) |
Y333F |
probably benign |
Het |
| Tbc1d16 |
G |
A |
11: 119,100,090 (GRCm39) |
R95C |
probably damaging |
Het |
| Tln1 |
C |
A |
4: 43,549,786 (GRCm39) |
E542* |
probably null |
Het |
| Tmem161b |
G |
T |
13: 84,442,754 (GRCm39) |
A407S |
probably benign |
Het |
| Tnc |
G |
T |
4: 63,918,247 (GRCm39) |
D1221E |
possibly damaging |
Het |
| Tnks |
T |
C |
8: 35,308,932 (GRCm39) |
K1109R |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 43,992,502 (GRCm39) |
V194A |
possibly damaging |
Het |
| Ust |
G |
A |
10: 8,183,218 (GRCm39) |
Q162* |
probably null |
Het |
| Utp15 |
T |
C |
13: 98,395,778 (GRCm39) |
Y68C |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,826,224 (GRCm39) |
H3193Q |
probably damaging |
Het |
| Vmn2r55 |
T |
C |
7: 12,418,908 (GRCm39) |
Y4C |
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 |
|
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 |
|
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'- TGCATTGGACACAGATTTGGAAG -3'
Sequencing Primer
(F):5'- GGGAGTAGAGGCTTTATAGTTAAAAG -3'
(R):5'- GGTCCTAGAGATTAAATGTGATTGC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation