Incidental Mutation 'R3798:Adgrf3'
| ID |
272836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrf3
|
| Ensembl Gene |
ENSMUSG00000067642 |
| Gene Name |
adhesion G protein-coupled receptor F3 |
| Synonyms |
PGR23, LOC381628, Gpr113 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3798 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
30398429-30410720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30401821 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 736
(I736V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085440
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088117]
[ENSMUST00000125367]
|
| AlphaFold |
Q58Y75 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088117
AA Change: I736V
PolyPhen 2
Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000085440
Gene: ENSMUSG00000067642
AA Change: I736V
| 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 |
possibly damaging
Transcript: ENSMUST00000114774
AA Change: I736V
PolyPhen 2
Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110422
Gene: ENSMUSG00000067642
AA Change: I736V
| 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 |
|
Pfam:DUF3497
|
417 |
609 |
1.1e-12 |
PFAM |
|
GPS
|
631 |
683 |
2.68e-17 |
SMART |
|
Pfam:7tm_2
|
686 |
934 |
5.3e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125367
|
| SMART Domains |
Protein: ENSMUSP00000120958
Gene: ENSMUSG00000067642
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
T |
A |
7: 131,033,694 (GRCm39) |
V237E |
probably damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| Basp1 |
C |
A |
15: 25,364,398 (GRCm39) |
|
probably benign |
Het |
| Bbs9 |
T |
C |
9: 22,550,065 (GRCm39) |
S21P |
probably damaging |
Het |
| Btbd16 |
A |
G |
7: 130,378,870 (GRCm39) |
N5D |
probably benign |
Het |
| Csmd2 |
C |
T |
4: 128,411,388 (GRCm39) |
P2469S |
probably benign |
Het |
| Cyld |
T |
C |
8: 89,461,558 (GRCm39) |
L662P |
probably damaging |
Het |
| Eif2ak4 |
C |
T |
2: 118,304,564 (GRCm39) |
R1530C |
probably damaging |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Ip6k3 |
T |
C |
17: 27,364,080 (GRCm39) |
I323V |
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,358,231 (GRCm39) |
L599P |
probably damaging |
Het |
| Lancl1 |
G |
A |
1: 67,073,303 (GRCm39) |
T60I |
probably damaging |
Het |
| Lmf1 |
G |
A |
17: 25,873,445 (GRCm39) |
V317M |
probably damaging |
Het |
| Lrrc8d |
T |
A |
5: 105,960,355 (GRCm39) |
I255N |
probably benign |
Het |
| Ndst1 |
A |
G |
18: 60,846,238 (GRCm39) |
F24L |
possibly damaging |
Het |
| Notch1 |
A |
T |
2: 26,368,630 (GRCm39) |
V553E |
probably benign |
Het |
| Nsd3 |
T |
A |
8: 26,188,873 (GRCm39) |
W69R |
probably damaging |
Het |
| Or2g25 |
T |
A |
17: 37,970,997 (GRCm39) |
I76F |
probably damaging |
Het |
| Pcm1 |
T |
C |
8: 41,711,051 (GRCm39) |
I107T |
possibly damaging |
Het |
| Pcnx3 |
G |
A |
19: 5,728,696 (GRCm39) |
Q422* |
probably null |
Het |
| Phrf1 |
C |
T |
7: 140,839,831 (GRCm39) |
R243* |
probably null |
Het |
| Ptbp3 |
T |
C |
4: 59,546,166 (GRCm39) |
I9V |
probably benign |
Het |
| Sacs |
T |
C |
14: 61,443,570 (GRCm39) |
V1872A |
possibly damaging |
Het |
| Slc35g3 |
A |
G |
11: 69,651,743 (GRCm39) |
F103L |
probably benign |
Het |
| Slx4ip |
T |
A |
2: 136,909,543 (GRCm39) |
D109E |
probably benign |
Het |
| Tas2r118 |
T |
C |
6: 23,969,822 (GRCm39) |
K80E |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,725,087 (GRCm39) |
|
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,285 (GRCm39) |
S760G |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,651,402 (GRCm39) |
Y267C |
possibly damaging |
Het |
| Wdr90 |
T |
C |
17: 26,069,472 (GRCm39) |
S1194G |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,214,653 (GRCm39) |
E764G |
probably damaging |
Het |
|
| Other mutations in Adgrf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03080:Adgrf3
|
APN |
5 |
30,401,827 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03171:Adgrf3
|
APN |
5 |
30,401,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Adgrf3
|
UTSW |
5 |
30,410,607 (GRCm39) |
splice site |
probably benign |
|
|
R0042:Adgrf3
|
UTSW |
5 |
30,402,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0140:Adgrf3
|
UTSW |
5 |
30,401,379 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0617:Adgrf3
|
UTSW |
5 |
30,400,078 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0748:Adgrf3
|
UTSW |
5 |
30,401,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1291:Adgrf3
|
UTSW |
5 |
30,404,532 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1330:Adgrf3
|
UTSW |
5 |
30,400,093 (GRCm39) |
missense |
probably benign |
0.24 |
|
R1468:Adgrf3
|
UTSW |
5 |
30,407,227 (GRCm39) |
splice site |
probably benign |
|
|
R1695:Adgrf3
|
UTSW |
5 |
30,408,553 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1716:Adgrf3
|
UTSW |
5 |
30,402,549 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1844:Adgrf3
|
UTSW |
5 |
30,404,211 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1935:Adgrf3
|
UTSW |
5 |
30,407,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1936:Adgrf3
|
UTSW |
5 |
30,407,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2059:Adgrf3
|
UTSW |
5 |
30,404,489 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2656:Adgrf3
|
UTSW |
5 |
30,401,436 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2913:Adgrf3
|
UTSW |
5 |
30,401,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2914:Adgrf3
|
UTSW |
5 |
30,401,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2987:Adgrf3
|
UTSW |
5 |
30,402,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3797:Adgrf3
|
UTSW |
5 |
30,401,821 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R3799:Adgrf3
|
UTSW |
5 |
30,401,821 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R3934:Adgrf3
|
UTSW |
5 |
30,405,432 (GRCm39) |
unclassified |
probably benign |
|
|
R4043:Adgrf3
|
UTSW |
5 |
30,409,360 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4080:Adgrf3
|
UTSW |
5 |
30,402,367 (GRCm39) |
nonsense |
probably null |
|
|
R4575:Adgrf3
|
UTSW |
5 |
30,407,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4754:Adgrf3
|
UTSW |
5 |
30,402,615 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4819:Adgrf3
|
UTSW |
5 |
30,403,442 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4893:Adgrf3
|
UTSW |
5 |
30,405,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4991:Adgrf3
|
UTSW |
5 |
30,404,146 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5686:Adgrf3
|
UTSW |
5 |
30,402,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5965:Adgrf3
|
UTSW |
5 |
30,410,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5997:Adgrf3
|
UTSW |
5 |
30,403,360 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6103:Adgrf3
|
UTSW |
5 |
30,401,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6244:Adgrf3
|
UTSW |
5 |
30,402,531 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6409:Adgrf3
|
UTSW |
5 |
30,402,312 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6575:Adgrf3
|
UTSW |
5 |
30,401,522 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6745:Adgrf3
|
UTSW |
5 |
30,408,601 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6790:Adgrf3
|
UTSW |
5 |
30,401,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6813:Adgrf3
|
UTSW |
5 |
30,402,519 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7202:Adgrf3
|
UTSW |
5 |
30,409,378 (GRCm39) |
nonsense |
probably null |
|
|
R7250:Adgrf3
|
UTSW |
5 |
30,400,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7353:Adgrf3
|
UTSW |
5 |
30,403,495 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7634:Adgrf3
|
UTSW |
5 |
30,407,245 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7658:Adgrf3
|
UTSW |
5 |
30,402,204 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8037:Adgrf3
|
UTSW |
5 |
30,404,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8281:Adgrf3
|
UTSW |
5 |
30,402,301 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8717:Adgrf3
|
UTSW |
5 |
30,403,579 (GRCm39) |
unclassified |
probably benign |
|
|
R8857:Adgrf3
|
UTSW |
5 |
30,402,065 (GRCm39) |
nonsense |
probably null |
|
|
R8926:Adgrf3
|
UTSW |
5 |
30,405,446 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9391:Adgrf3
|
UTSW |
5 |
30,400,071 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9446:Adgrf3
|
UTSW |
5 |
30,401,957 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9522:Adgrf3
|
UTSW |
5 |
30,404,482 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1088:Adgrf3
|
UTSW |
5 |
30,404,118 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGACAGCTGGTGGAAGAC -3'
(R):5'- CAGTGCATTTGCCAGCATC -3'
Sequencing Primer
(F):5'- CAAAAAGCAGCTGGTGGGCC -3'
(R):5'- GCATTTGCCAGCATCTCACAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation