Incidental Mutation 'R6813:Adgrf3'
| ID |
533935 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrf3
|
| Ensembl Gene |
ENSMUSG00000067642 |
| Gene Name |
adhesion G protein-coupled receptor F3 |
| Synonyms |
PGR23, LOC381628, Gpr113 |
| MMRRC Submission |
044925-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6813 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
30398429-30410720 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30402519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 503
(F503S)
|
| 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: F503S
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000085440
Gene: ENSMUSG00000067642
AA Change: F503S
| 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 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.9%
|
| Validation Efficiency |
100% (61/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
C |
A |
4: 129,903,284 (GRCm39) |
Q603K |
probably damaging |
Het |
| Arfgap3 |
A |
T |
15: 83,214,794 (GRCm39) |
M164K |
probably benign |
Het |
| Asb13 |
G |
T |
13: 3,695,029 (GRCm39) |
V166F |
probably damaging |
Het |
| Atm |
T |
G |
9: 53,408,535 (GRCm39) |
R1103S |
probably benign |
Het |
| Atxn7l1 |
T |
C |
12: 33,417,123 (GRCm39) |
I626T |
probably damaging |
Het |
| Brsk2 |
A |
G |
7: 141,556,214 (GRCm39) |
I649V |
probably benign |
Het |
| Ccdc25 |
T |
A |
14: 66,093,882 (GRCm39) |
M85K |
probably benign |
Het |
| Cdc42bpb |
A |
G |
12: 111,294,049 (GRCm39) |
V231A |
probably damaging |
Het |
| Clstn3 |
T |
A |
6: 124,413,894 (GRCm39) |
M767L |
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,661,140 (GRCm39) |
R323K |
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,258,766 (GRCm39) |
N2337K |
probably benign |
Het |
| Creld1 |
A |
G |
6: 113,466,530 (GRCm39) |
Y199C |
probably damaging |
Het |
| Csf1r |
T |
A |
18: 61,245,806 (GRCm39) |
D254E |
probably benign |
Het |
| Dab2ip |
C |
T |
2: 35,620,485 (GRCm39) |
Q1118* |
probably null |
Het |
| Dcun1d4 |
C |
A |
5: 73,678,300 (GRCm39) |
S98R |
possibly damaging |
Het |
| Disp3 |
G |
A |
4: 148,344,387 (GRCm39) |
P505L |
probably benign |
Het |
| Dlec1 |
A |
T |
9: 118,941,170 (GRCm39) |
Q240L |
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,905,523 (GRCm39) |
K753E |
probably benign |
Het |
| Edil3 |
T |
A |
13: 89,437,575 (GRCm39) |
I392N |
probably damaging |
Het |
| Epha10 |
T |
A |
4: 124,796,486 (GRCm39) |
S398R |
|
Het |
| Ephb1 |
A |
G |
9: 101,887,247 (GRCm39) |
I464T |
possibly damaging |
Het |
| Eps15 |
T |
A |
4: 109,137,599 (GRCm39) |
|
probably null |
Het |
| Fam111a |
T |
A |
19: 12,564,706 (GRCm39) |
C152S |
probably damaging |
Het |
| Flt3 |
T |
C |
5: 147,291,653 (GRCm39) |
E599G |
probably damaging |
Het |
| Frmd3 |
T |
C |
4: 74,077,482 (GRCm39) |
S259P |
probably benign |
Het |
| Hsfy2 |
A |
G |
1: 56,675,461 (GRCm39) |
Y359H |
possibly damaging |
Het |
| Ifih1 |
C |
T |
2: 62,476,037 (GRCm39) |
V80M |
possibly damaging |
Het |
| Il12rb2 |
A |
C |
6: 67,269,358 (GRCm39) |
D818E |
probably damaging |
Het |
| Il4i1 |
A |
G |
7: 44,489,236 (GRCm39) |
T334A |
probably benign |
Het |
| Irs2 |
G |
A |
8: 11,054,659 (GRCm39) |
Q1258* |
probably null |
Het |
| Lsm1 |
T |
G |
8: 26,283,721 (GRCm39) |
H44Q |
probably benign |
Het |
| Mgam |
A |
T |
6: 40,727,099 (GRCm39) |
M1257L |
probably damaging |
Het |
| Myc |
T |
C |
15: 61,860,001 (GRCm39) |
S225P |
probably damaging |
Het |
| Myh1 |
T |
C |
11: 67,111,286 (GRCm39) |
V1575A |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,775,949 (GRCm39) |
D380G |
probably damaging |
Het |
| Ncoa7 |
T |
A |
10: 30,572,188 (GRCm39) |
D157V |
probably damaging |
Het |
| Or10g9b |
T |
A |
9: 39,917,753 (GRCm39) |
H164L |
probably benign |
Het |
| Or2t44 |
G |
T |
11: 58,677,472 (GRCm39) |
Q137H |
probably benign |
Het |
| Or7g16 |
G |
A |
9: 18,727,188 (GRCm39) |
T134M |
probably benign |
Het |
| Or8b36 |
T |
C |
9: 37,937,129 (GRCm39) |
V9A |
probably damaging |
Het |
| Or8b9 |
A |
C |
9: 37,766,810 (GRCm39) |
E232A |
possibly damaging |
Het |
| Pccb |
A |
G |
9: 100,905,268 (GRCm39) |
V117A |
probably damaging |
Het |
| Pdp2 |
C |
T |
8: 105,321,131 (GRCm39) |
H327Y |
probably damaging |
Het |
| Pdzph1 |
G |
T |
17: 59,281,431 (GRCm39) |
Q284K |
probably benign |
Het |
| Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
| Phldb1 |
A |
T |
9: 44,610,865 (GRCm39) |
S751R |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,739,002 (GRCm39) |
H535R |
probably benign |
Het |
| Ppp1r1b |
T |
A |
11: 98,240,002 (GRCm39) |
|
probably null |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,570 (GRCm39) |
V448A |
probably benign |
Het |
| Pvrig-ps |
A |
T |
5: 138,340,312 (GRCm39) |
T28S |
probably benign |
Het |
| Rasgrf1 |
G |
A |
9: 89,892,537 (GRCm39) |
|
probably null |
Het |
| Scnn1g |
T |
C |
7: 121,339,576 (GRCm39) |
L125S |
probably damaging |
Het |
| Slc30a7 |
A |
T |
3: 115,775,460 (GRCm39) |
D221E |
probably benign |
Het |
| Spata31e1 |
T |
A |
13: 49,940,872 (GRCm39) |
R279S |
probably benign |
Het |
| Tmem30c |
A |
G |
16: 57,101,622 (GRCm39) |
|
probably null |
Het |
| Tmem33 |
T |
C |
5: 67,421,802 (GRCm39) |
|
probably null |
Het |
| Ttc29 |
A |
T |
8: 79,060,249 (GRCm39) |
T390S |
probably benign |
Het |
| Vamp5 |
G |
A |
6: 72,357,424 (GRCm39) |
|
probably benign |
Het |
| Vmn2r81 |
T |
A |
10: 79,104,439 (GRCm39) |
F354Y |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,802,116 (GRCm39) |
H119R |
probably benign |
Het |
| Wdr3 |
G |
A |
3: 100,046,041 (GRCm39) |
R931* |
probably null |
Het |
| Wtap |
A |
T |
17: 13,186,397 (GRCm39) |
N383K |
probably damaging |
Het |
| Zfp808 |
T |
C |
13: 62,320,849 (GRCm39) |
Y693H |
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 |
|
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 |
|
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'- TACTGACGTTAGTTCCACTATGG -3'
(R):5'- TCTGGGTCTTGCCATGGAAG -3'
Sequencing Primer
(F):5'- GGCCAGTGAATGCCATGGAATC -3'
(R):5'- TCTTGCCATGGAAGGAAGG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation