Incidental Mutation 'R5686:Adgrf3'
ID |
443348 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgrf3
|
Ensembl Gene |
ENSMUSG00000067642 |
Gene Name |
adhesion G protein-coupled receptor F3 |
Synonyms |
PGR23, LOC381628, Gpr113 |
MMRRC Submission |
043319-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5686 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
30398429-30410720 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 30402304 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 575
(T575S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000085440
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088117]
[ENSMUST00000125367]
|
AlphaFold |
Q58Y75 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000088117
AA Change: T575S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000085440 Gene: ENSMUSG00000067642 AA Change: T575S
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 |
probably damaging
Transcript: ENSMUST00000114774
AA Change: T575S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000110422 Gene: ENSMUSG00000067642 AA Change: T575S
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 |
0.2511 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
97% (73/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
G |
13: 77,451,433 (GRCm39) |
E839G |
possibly damaging |
Het |
Akap9 |
T |
A |
5: 4,021,926 (GRCm39) |
C1158S |
probably benign |
Het |
Arhgap39 |
A |
G |
15: 76,610,833 (GRCm39) |
F926L |
probably damaging |
Het |
BC035947 |
G |
T |
1: 78,474,567 (GRCm39) |
T655K |
probably benign |
Het |
Bcas1 |
T |
C |
2: 170,248,730 (GRCm39) |
T64A |
probably benign |
Het |
Bltp1 |
T |
A |
3: 36,971,809 (GRCm39) |
F514Y |
probably benign |
Het |
Brca2 |
A |
G |
5: 150,464,369 (GRCm39) |
K1378E |
probably benign |
Het |
Card6 |
A |
T |
15: 5,130,435 (GRCm39) |
N320K |
probably damaging |
Het |
Ccdc3 |
A |
T |
2: 5,142,871 (GRCm39) |
I43F |
probably damaging |
Het |
Cd200r1 |
T |
C |
16: 44,610,527 (GRCm39) |
S212P |
probably damaging |
Het |
Cdh8 |
T |
C |
8: 99,759,854 (GRCm39) |
I632V |
probably benign |
Het |
Col25a1 |
A |
G |
3: 130,357,803 (GRCm39) |
E477G |
probably damaging |
Het |
Cpne5 |
A |
T |
17: 29,402,991 (GRCm39) |
C215S |
possibly damaging |
Het |
Crim1 |
T |
A |
17: 78,681,512 (GRCm39) |
S989T |
possibly damaging |
Het |
Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
Dync1h1 |
T |
A |
12: 110,582,838 (GRCm39) |
N340K |
probably benign |
Het |
Eif4e2 |
G |
A |
1: 87,153,960 (GRCm39) |
|
probably null |
Het |
Ephb6 |
G |
T |
6: 41,596,638 (GRCm39) |
R895L |
possibly damaging |
Het |
Esrrg |
T |
A |
1: 187,882,395 (GRCm39) |
H217Q |
probably benign |
Het |
Fgl1 |
T |
A |
8: 41,653,594 (GRCm39) |
K100* |
probably null |
Het |
Flt4 |
T |
C |
11: 49,521,430 (GRCm39) |
V450A |
probably benign |
Het |
G6pc2 |
A |
T |
2: 69,051,128 (GRCm39) |
I74L |
probably benign |
Het |
Gabrr1 |
T |
C |
4: 33,161,684 (GRCm39) |
M336T |
probably damaging |
Het |
Gli1 |
T |
A |
10: 127,173,305 (GRCm39) |
T118S |
probably benign |
Het |
Gm5435 |
A |
T |
12: 82,542,800 (GRCm39) |
|
noncoding transcript |
Het |
Got1l1 |
A |
G |
8: 27,688,087 (GRCm39) |
L314P |
probably damaging |
Het |
Hk3 |
T |
A |
13: 55,154,626 (GRCm39) |
I740F |
probably damaging |
Het |
Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
Igsf9b |
A |
G |
9: 27,235,475 (GRCm39) |
T508A |
probably damaging |
Het |
Il16 |
T |
A |
7: 83,297,936 (GRCm39) |
N431I |
probably benign |
Het |
Lax1 |
G |
A |
1: 133,607,914 (GRCm39) |
P276S |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,341,405 (GRCm39) |
V925E |
possibly damaging |
Het |
Lrp3 |
T |
A |
7: 34,902,910 (GRCm39) |
T479S |
possibly damaging |
Het |
Metrn |
G |
A |
17: 26,014,191 (GRCm39) |
R212C |
probably damaging |
Het |
Mlip |
A |
C |
9: 77,254,975 (GRCm39) |
|
probably null |
Het |
Mmp24 |
C |
T |
2: 155,641,697 (GRCm39) |
T175I |
probably damaging |
Het |
N6amt1 |
A |
T |
16: 87,151,223 (GRCm39) |
D28V |
probably damaging |
Het |
Or1e21 |
A |
T |
11: 73,344,677 (GRCm39) |
Y120* |
probably null |
Het |
Or4f4b |
G |
A |
2: 111,314,488 (GRCm39) |
G238R |
probably damaging |
Het |
Or5p52 |
A |
G |
7: 107,502,119 (GRCm39) |
H65R |
probably damaging |
Het |
Or5p66 |
G |
T |
7: 107,885,949 (GRCm39) |
A128E |
probably damaging |
Het |
Or6d15 |
T |
C |
6: 116,559,890 (GRCm39) |
T6A |
probably benign |
Het |
Or8b12i |
T |
A |
9: 20,082,265 (GRCm39) |
I201F |
possibly damaging |
Het |
Pcdh17 |
T |
A |
14: 84,770,433 (GRCm39) |
N970K |
probably damaging |
Het |
Pdzrn3 |
T |
C |
6: 101,128,389 (GRCm39) |
Y759C |
probably damaging |
Het |
Pkd2l2 |
T |
C |
18: 34,558,290 (GRCm39) |
L323P |
probably damaging |
Het |
Psg21 |
G |
T |
7: 18,386,183 (GRCm39) |
|
probably benign |
Het |
Rest |
T |
C |
5: 77,429,573 (GRCm39) |
V664A |
probably benign |
Het |
Sco2 |
G |
A |
15: 89,256,175 (GRCm39) |
R160* |
probably null |
Het |
Sfswap |
T |
A |
5: 129,591,882 (GRCm39) |
S300T |
probably damaging |
Het |
Slc5a10 |
A |
T |
11: 61,569,392 (GRCm39) |
M329K |
probably benign |
Het |
Slco1a5 |
G |
A |
6: 142,182,033 (GRCm39) |
P564S |
probably damaging |
Het |
Stk38 |
A |
G |
17: 29,201,103 (GRCm39) |
F191S |
probably damaging |
Het |
Svep1 |
T |
A |
4: 58,072,826 (GRCm39) |
Y2161F |
possibly damaging |
Het |
Tada2a |
G |
A |
11: 83,970,428 (GRCm39) |
T441M |
possibly damaging |
Het |
Tg |
T |
A |
15: 66,560,738 (GRCm39) |
N1033K |
probably benign |
Het |
Thoc3 |
A |
T |
13: 54,615,686 (GRCm39) |
I126N |
probably damaging |
Het |
Tnc |
T |
C |
4: 63,925,967 (GRCm39) |
|
probably null |
Het |
Tnc |
A |
T |
4: 63,927,032 (GRCm39) |
D831E |
possibly damaging |
Het |
Uhmk1 |
A |
T |
1: 170,038,787 (GRCm39) |
V100E |
probably damaging |
Het |
Usp43 |
G |
A |
11: 67,812,742 (GRCm39) |
|
probably benign |
Het |
Vmn2r90 |
A |
T |
17: 17,933,712 (GRCm39) |
Y424F |
probably benign |
Het |
Vps33a |
C |
T |
5: 123,685,064 (GRCm39) |
|
probably null |
Het |
Xirp2 |
A |
T |
2: 67,312,642 (GRCm39) |
K37I |
probably damaging |
Het |
Zfp106 |
A |
T |
2: 120,363,988 (GRCm39) |
|
probably null |
Het |
Zfp748 |
A |
T |
13: 67,690,647 (GRCm39) |
C204* |
probably null |
Het |
Zfp998 |
T |
C |
13: 66,579,722 (GRCm39) |
R254G |
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 |
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'- ACAGTGAAGGGTTCCATTCATG -3'
(R):5'- TTTCCTGAAGGCTGTGGAGAC -3'
Sequencing Primer
(F):5'- GAAGGGTTCCATTCATGTCTTCATAG -3'
(R):5'- GAGACCTTGGTTCACAGCTTAAGAC -3'
|
Posted On |
2016-11-09 |