Incidental Mutation 'R9391:Adgrf3'
| ID |
710585 |
| 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 # |
R9391 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
30398429-30410720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30400071 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 974
(E974G)
|
| 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: E974G
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000085440
Gene: ENSMUSG00000067642
AA Change: E974G
| 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: ENSMUST00000125367
AA Change: E90G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000120958
Gene: ENSMUSG00000067642
AA Change: E90G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,178,542 (GRCm39) |
T1144A |
probably benign |
Het |
| Adam32 |
C |
T |
8: 25,374,472 (GRCm39) |
E507K |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,071,602 (GRCm39) |
E560G |
unknown |
Het |
| Ank2 |
A |
T |
3: 126,731,394 (GRCm39) |
H671Q |
probably damaging |
Het |
| Asic5 |
C |
T |
3: 81,928,366 (GRCm39) |
T485M |
probably benign |
Het |
| Bco2 |
T |
C |
9: 50,446,022 (GRCm39) |
|
probably null |
Het |
| C1qtnf6 |
A |
G |
15: 78,415,516 (GRCm39) |
C23R |
unknown |
Het |
| Ccdc18 |
T |
C |
5: 108,376,770 (GRCm39) |
F1404L |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,198,027 (GRCm39) |
I2107N |
unknown |
Het |
| Cfap97d1 |
G |
T |
11: 101,881,655 (GRCm39) |
R117I |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Cpb2 |
A |
C |
14: 75,508,136 (GRCm39) |
Q199P |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,272,914 (GRCm39) |
Y2347* |
probably null |
Het |
| Dyrk1a |
T |
A |
16: 94,460,373 (GRCm39) |
C10S |
possibly damaging |
Het |
| F2r |
A |
T |
13: 95,740,656 (GRCm39) |
V293D |
probably damaging |
Het |
| Gm28363 |
G |
A |
1: 117,626,629 (GRCm39) |
W22* |
probably null |
Het |
| Hira |
T |
C |
16: 18,767,892 (GRCm39) |
S696P |
possibly damaging |
Het |
| Klhl2 |
A |
G |
8: 65,275,684 (GRCm39) |
V73A |
probably damaging |
Het |
| Lalba |
A |
T |
15: 98,380,417 (GRCm39) |
W46R |
probably damaging |
Het |
| Map3k13 |
C |
A |
16: 21,740,665 (GRCm39) |
T664N |
probably benign |
Het |
| Ncor1 |
T |
A |
11: 62,216,376 (GRCm39) |
K1166* |
probably null |
Het |
| Npdc1 |
T |
A |
2: 25,297,979 (GRCm39) |
M176K |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,964,408 (GRCm39) |
S3045P |
probably damaging |
Het |
| Or13a20 |
G |
A |
7: 140,232,272 (GRCm39) |
A127T |
probably damaging |
Het |
| Plekhg4 |
G |
C |
8: 106,106,043 (GRCm39) |
K813N |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Prdm12 |
G |
A |
2: 31,544,162 (GRCm39) |
R255H |
probably benign |
Het |
| Rbbp8 |
T |
C |
18: 11,854,990 (GRCm39) |
I405T |
possibly damaging |
Het |
| Sctr |
A |
G |
1: 119,983,178 (GRCm39) |
T328A |
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,681,101 (GRCm39) |
S362T |
probably benign |
Het |
| Sgsm2 |
A |
G |
11: 74,744,630 (GRCm39) |
L818P |
probably damaging |
Het |
| Shprh |
G |
A |
10: 11,038,633 (GRCm39) |
V463I |
probably benign |
Het |
| Smyd5 |
T |
C |
6: 85,418,739 (GRCm39) |
F241S |
probably damaging |
Het |
| Tax1bp1 |
T |
A |
6: 52,735,220 (GRCm39) |
Y680* |
probably null |
Het |
| Tbc1d17 |
A |
G |
7: 44,494,683 (GRCm39) |
S212P |
probably damaging |
Het |
| Tle1 |
A |
T |
4: 72,116,159 (GRCm39) |
V62E |
probably damaging |
Het |
| Tnfaip3 |
G |
T |
10: 18,883,075 (GRCm39) |
N163K |
probably damaging |
Het |
| Trim8 |
T |
A |
19: 46,503,955 (GRCm39) |
Y502* |
probably null |
Het |
| Trip12 |
A |
T |
1: 84,773,473 (GRCm39) |
F54L |
probably benign |
Het |
| Trpc2 |
T |
A |
7: 101,745,067 (GRCm39) |
L761Q |
probably damaging |
Het |
| Vps41 |
A |
T |
13: 18,994,616 (GRCm39) |
E154D |
probably benign |
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 |
|
R3798: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 |
|
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'- TTGGCAAGAGGTTGACCAG -3'
(R):5'- TCCACATTAGAAAAGACAGAGTGG -3'
Sequencing Primer
(F):5'- GATGGTGCATGCCTGTAATCCAAAC -3'
(R):5'- GGGCTCCCATGAAATCTA -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation