Incidental Mutation 'R4043:Adgrf3'
| ID |
313917 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrf3
|
| Ensembl Gene |
ENSMUSG00000067642 |
| Gene Name |
adhesion G protein-coupled receptor F3 |
| Synonyms |
Gpr113, LOC381628, PGR23 |
| MMRRC Submission |
041615-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4043 (G1)
|
| Quality Score |
206 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
30193431-30205722 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30204362 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 44
(N44D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088117]
|
| AlphaFold |
Q58Y75 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088117
AA Change: N44D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000085440
Gene: ENSMUSG00000067642
AA Change: N44D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
97 |
N/A |
INTRINSIC |
|
Blast:IG
|
163 |
252 |
2e-20 |
BLAST |
|
Blast:CCP
|
341 |
399 |
1e-6 |
BLAST |
|
low complexity region
|
403 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
471 |
483 |
N/A |
INTRINSIC |
|
GPS
|
632 |
684 |
2.68e-17 |
SMART |
|
Pfam:7tm_2
|
687 |
935 |
1e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135322
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.9%
|
| Validation Efficiency |
97% (64/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4430402I18Rik |
A |
T |
19: 28,945,783 (GRCm38) |
C80S |
possibly damaging |
Het |
| 4930415L06Rik |
A |
G |
X: 89,932,303 (GRCm38) |
F96S |
probably damaging |
Het |
| AU018091 |
A |
G |
7: 3,159,122 (GRCm38) |
F375L |
probably damaging |
Het |
| Bsph1 |
G |
T |
7: 13,458,276 (GRCm38) |
|
probably null |
Het |
| Casp1 |
A |
G |
9: 5,302,444 (GRCm38) |
D122G |
probably benign |
Het |
| Ccdc146 |
C |
T |
5: 21,316,943 (GRCm38) |
C361Y |
probably benign |
Het |
| Cdc37l1 |
T |
C |
19: 28,990,628 (GRCm38) |
S31P |
possibly damaging |
Het |
| Cdca2 |
A |
T |
14: 67,704,006 (GRCm38) |
M249K |
probably benign |
Het |
| Cfap73 |
C |
T |
5: 120,629,965 (GRCm38) |
|
probably null |
Het |
| Cgnl1 |
A |
G |
9: 71,705,293 (GRCm38) |
L749S |
probably damaging |
Het |
| Cmtr2 |
C |
A |
8: 110,221,830 (GRCm38) |
C257* |
probably null |
Het |
| Col6a4 |
A |
T |
9: 106,072,411 (GRCm38) |
L675* |
probably null |
Het |
| Cpne8 |
A |
T |
15: 90,572,001 (GRCm38) |
D186E |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,755,966 (GRCm38) |
|
probably null |
Het |
| D330045A20Rik |
C |
T |
X: 139,507,003 (GRCm38) |
S364L |
probably damaging |
Het |
| D430042O09Rik |
A |
G |
7: 125,868,741 (GRCm38) |
I1366V |
probably benign |
Het |
| Daglb |
T |
A |
5: 143,487,151 (GRCm38) |
Y354N |
possibly damaging |
Het |
| Dlgap1 |
T |
C |
17: 70,761,080 (GRCm38) |
S549P |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 117,879,943 (GRCm38) |
D4389G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,190,684 (GRCm38) |
C2631S |
probably benign |
Het |
| Gimap1 |
T |
A |
6: 48,743,242 (GRCm38) |
W263R |
probably damaging |
Het |
| Gne |
A |
C |
4: 44,040,383 (GRCm38) |
C594G |
possibly damaging |
Het |
| Gtf2a1 |
T |
C |
12: 91,575,667 (GRCm38) |
H47R |
probably benign |
Het |
| Hdac6 |
T |
C |
X: 7,931,492 (GRCm38) |
T993A |
probably benign |
Het |
| Helz2 |
T |
C |
2: 181,229,710 (GRCm38) |
D2703G |
probably benign |
Het |
| Jmjd1c |
G |
A |
10: 67,219,466 (GRCm38) |
V222I |
possibly damaging |
Het |
| Kndc1 |
A |
G |
7: 139,924,129 (GRCm38) |
E1116G |
probably benign |
Het |
| Krt10 |
C |
T |
11: 99,386,993 (GRCm38) |
|
probably null |
Het |
| Lrrc37a |
T |
G |
11: 103,498,653 (GRCm38) |
H1982P |
possibly damaging |
Het |
| Med13l |
T |
A |
5: 118,593,463 (GRCm38) |
L68Q |
probably damaging |
Het |
| Megf10 |
C |
A |
18: 57,259,798 (GRCm38) |
D422E |
probably damaging |
Het |
| Mpz |
C |
T |
1: 171,159,771 (GRCm38) |
|
probably benign |
Het |
| Muc5ac |
A |
T |
7: 141,807,478 (GRCm38) |
T1508S |
possibly damaging |
Het |
| Myo3a |
C |
T |
2: 22,333,539 (GRCm38) |
|
probably benign |
Het |
| Ndnf |
A |
T |
6: 65,703,936 (GRCm38) |
N400Y |
possibly damaging |
Het |
| Olfr192 |
G |
A |
16: 59,098,761 (GRCm38) |
T77I |
unknown |
Het |
| Olfr414 |
T |
C |
1: 174,431,091 (GRCm38) |
I221T |
probably damaging |
Het |
| Olfr855 |
G |
T |
9: 19,584,995 (GRCm38) |
V153F |
probably benign |
Het |
| Otol1 |
A |
G |
3: 70,027,779 (GRCm38) |
D368G |
probably damaging |
Het |
| Pappa |
A |
G |
4: 65,314,587 (GRCm38) |
N1321S |
probably benign |
Het |
| Patl1 |
T |
A |
19: 11,942,950 (GRCm38) |
L756Q |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 117,612,978 (GRCm38) |
M1043V |
probably benign |
Het |
| Plekhg2 |
G |
A |
7: 28,364,719 (GRCm38) |
|
probably benign |
Het |
| Ppp2r2d |
G |
A |
7: 138,882,416 (GRCm38) |
W265* |
probably null |
Het |
| Prss40 |
G |
T |
1: 34,560,879 (GRCm38) |
S9* |
probably null |
Het |
| Radil |
T |
A |
5: 142,494,233 (GRCm38) |
I471F |
probably benign |
Het |
| Rpl10l |
A |
T |
12: 66,284,203 (GRCm38) |
M52K |
probably damaging |
Het |
| Scn1a |
A |
T |
2: 66,326,036 (GRCm38) |
S510T |
possibly damaging |
Het |
| Sdad1 |
T |
G |
5: 92,302,694 (GRCm38) |
N194T |
probably damaging |
Het |
| Sel1l3 |
A |
T |
5: 53,188,054 (GRCm38) |
Y259* |
probably null |
Het |
| Slc22a26 |
T |
C |
19: 7,788,329 (GRCm38) |
|
probably null |
Het |
| Snap91 |
C |
T |
9: 86,777,049 (GRCm38) |
G477D |
probably damaging |
Het |
| Srr |
T |
C |
11: 74,909,121 (GRCm38) |
T202A |
probably benign |
Het |
| Srrm1 |
C |
T |
4: 135,340,931 (GRCm38) |
|
probably benign |
Het |
| Trp53bp2 |
T |
A |
1: 182,449,061 (GRCm38) |
L869Q |
possibly damaging |
Het |
| Ttbk1 |
T |
A |
17: 46,446,762 (GRCm38) |
D982V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,794,157 (GRCm38) |
T15324A |
probably benign |
Het |
| Ush1c |
T |
C |
7: 46,221,528 (GRCm38) |
E276G |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,692,543 (GRCm38) |
L1627F |
probably benign |
Het |
| Vps8 |
A |
C |
16: 21,526,396 (GRCm38) |
D823A |
probably damaging |
Het |
| Zfp616 |
T |
A |
11: 74,085,282 (GRCm38) |
N792K |
possibly damaging |
Het |
| Zfpm2 |
A |
T |
15: 40,870,627 (GRCm38) |
D2V |
possibly damaging |
Het |
| Zfyve16 |
A |
C |
13: 92,513,763 (GRCm38) |
|
probably null |
Het |
| Zmym2 |
T |
A |
14: 56,958,308 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Adgrf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03080:Adgrf3
|
APN |
5 |
30,196,829 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL03171:Adgrf3
|
APN |
5 |
30,196,294 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0010:Adgrf3
|
UTSW |
5 |
30,205,609 (GRCm38) |
splice site |
probably benign |
|
|
R0042:Adgrf3
|
UTSW |
5 |
30,197,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0140:Adgrf3
|
UTSW |
5 |
30,196,381 (GRCm38) |
missense |
probably benign |
0.19 |
|
R0617:Adgrf3
|
UTSW |
5 |
30,195,080 (GRCm38) |
missense |
probably benign |
0.25 |
|
R0748:Adgrf3
|
UTSW |
5 |
30,196,876 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1291:Adgrf3
|
UTSW |
5 |
30,199,534 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1330:Adgrf3
|
UTSW |
5 |
30,195,095 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1468:Adgrf3
|
UTSW |
5 |
30,202,229 (GRCm38) |
splice site |
probably benign |
|
|
R1695:Adgrf3
|
UTSW |
5 |
30,203,555 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1716:Adgrf3
|
UTSW |
5 |
30,197,551 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1844:Adgrf3
|
UTSW |
5 |
30,199,213 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1935:Adgrf3
|
UTSW |
5 |
30,202,306 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1936:Adgrf3
|
UTSW |
5 |
30,202,306 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2059:Adgrf3
|
UTSW |
5 |
30,199,491 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R2656:Adgrf3
|
UTSW |
5 |
30,196,438 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R2913:Adgrf3
|
UTSW |
5 |
30,196,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2914:Adgrf3
|
UTSW |
5 |
30,196,994 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2987:Adgrf3
|
UTSW |
5 |
30,197,360 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3797:Adgrf3
|
UTSW |
5 |
30,196,823 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R3798:Adgrf3
|
UTSW |
5 |
30,196,823 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R3799:Adgrf3
|
UTSW |
5 |
30,196,823 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R3934:Adgrf3
|
UTSW |
5 |
30,200,434 (GRCm38) |
unclassified |
probably benign |
|
|
R4080:Adgrf3
|
UTSW |
5 |
30,197,369 (GRCm38) |
nonsense |
probably null |
|
|
R4575:Adgrf3
|
UTSW |
5 |
30,202,257 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4754:Adgrf3
|
UTSW |
5 |
30,197,617 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4819:Adgrf3
|
UTSW |
5 |
30,198,444 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R4893:Adgrf3
|
UTSW |
5 |
30,200,478 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4991:Adgrf3
|
UTSW |
5 |
30,199,148 (GRCm38) |
missense |
probably benign |
0.26 |
|
R5686:Adgrf3
|
UTSW |
5 |
30,197,306 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5965:Adgrf3
|
UTSW |
5 |
30,205,639 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5997:Adgrf3
|
UTSW |
5 |
30,198,362 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6103:Adgrf3
|
UTSW |
5 |
30,196,267 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6244:Adgrf3
|
UTSW |
5 |
30,197,533 (GRCm38) |
missense |
probably benign |
0.17 |
|
R6409:Adgrf3
|
UTSW |
5 |
30,197,314 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6575:Adgrf3
|
UTSW |
5 |
30,196,524 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R6745:Adgrf3
|
UTSW |
5 |
30,203,603 (GRCm38) |
missense |
probably benign |
0.31 |
|
R6790:Adgrf3
|
UTSW |
5 |
30,196,387 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6813:Adgrf3
|
UTSW |
5 |
30,197,521 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7202:Adgrf3
|
UTSW |
5 |
30,204,380 (GRCm38) |
nonsense |
probably null |
|
|
R7250:Adgrf3
|
UTSW |
5 |
30,195,682 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7353:Adgrf3
|
UTSW |
5 |
30,198,497 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7634:Adgrf3
|
UTSW |
5 |
30,202,247 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7658:Adgrf3
|
UTSW |
5 |
30,197,206 (GRCm38) |
missense |
probably benign |
0.41 |
|
R8037:Adgrf3
|
UTSW |
5 |
30,199,512 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8281:Adgrf3
|
UTSW |
5 |
30,197,303 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R8717:Adgrf3
|
UTSW |
5 |
30,198,581 (GRCm38) |
unclassified |
probably benign |
|
|
R8857:Adgrf3
|
UTSW |
5 |
30,197,067 (GRCm38) |
nonsense |
probably null |
|
|
R8926:Adgrf3
|
UTSW |
5 |
30,200,448 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R9391:Adgrf3
|
UTSW |
5 |
30,195,073 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9446:Adgrf3
|
UTSW |
5 |
30,196,959 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9522:Adgrf3
|
UTSW |
5 |
30,199,484 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
Z1088:Adgrf3
|
UTSW |
5 |
30,199,120 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTTTCTAGGCCTCACAGC -3'
(R):5'- TGACCTCTGGCCTAAAGAAGAAC -3'
Sequencing Primer
(F):5'- CTGGAGCTCACTTTGTAGACCAG -3'
(R):5'- GAAGAACTTCTAAGAGACCAAGTCAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation