Incidental Mutation 'R6103:Adgrf3'
| ID |
485366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrf3
|
| Ensembl Gene |
ENSMUSG00000067642 |
| Gene Name |
adhesion G protein-coupled receptor F3 |
| Synonyms |
Gpr113, LOC381628, PGR23 |
| MMRRC Submission |
044253-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6103 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
30193431-30205722 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30196267 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 51
(Y51C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088117]
[ENSMUST00000125367]
|
| AlphaFold |
Q58Y75 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000088117
AA Change: Y921C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000085440
Gene: ENSMUSG00000067642
AA Change: Y921C
| 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: ENSMUST00000125367
AA Change: Y51C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120958
Gene: ENSMUSG00000067642
AA Change: Y51C
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 95.0%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700021F05Rik |
A |
T |
10: 43,532,920 |
Y76N |
probably benign |
Het |
| Abcc8 |
A |
G |
7: 46,119,021 |
S926P |
possibly damaging |
Het |
| Acacb |
T |
A |
5: 114,245,881 |
M2157K |
probably damaging |
Het |
| Aco2 |
T |
C |
15: 81,913,251 |
V636A |
probably benign |
Het |
| Adprhl1 |
T |
C |
8: 13,222,055 |
T1568A |
possibly damaging |
Het |
| Ank1 |
T |
A |
8: 23,113,983 |
S937T |
probably damaging |
Het |
| Ankrd50 |
T |
C |
3: 38,454,429 |
E340G |
probably damaging |
Het |
| Avpr1b |
C |
T |
1: 131,609,417 |
P90S |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 29,396,489 |
H159R |
probably damaging |
Het |
| Carmil3 |
A |
T |
14: 55,505,427 |
T1185S |
probably benign |
Het |
| Casp2 |
A |
T |
6: 42,279,880 |
R357S |
probably damaging |
Het |
| Ccdc34 |
A |
G |
2: 110,018,007 |
D47G |
probably benign |
Het |
| Cd109 |
A |
G |
9: 78,698,314 |
|
probably null |
Het |
| Cd209d |
T |
C |
8: 3,878,304 |
Y27C |
probably damaging |
Het |
| Cep350 |
T |
A |
1: 155,924,576 |
D1176V |
probably benign |
Het |
| Cpd |
A |
T |
11: 76,799,799 |
S844T |
probably benign |
Het |
| Cyp4x1 |
A |
G |
4: 115,111,667 |
L380P |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,825,581 |
V376A |
probably benign |
Het |
| Enam |
T |
A |
5: 88,502,328 |
N565K |
probably damaging |
Het |
| Fam110c |
G |
A |
12: 31,074,795 |
W252* |
probably null |
Het |
| Fbxo6 |
A |
T |
4: 148,149,522 |
I39N |
probably damaging |
Het |
| Fgb |
T |
C |
3: 83,043,863 |
D281G |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,549,788 |
T2048S |
probably benign |
Het |
| Fut8 |
A |
T |
12: 77,331,947 |
|
probably benign |
Het |
| Glmp |
T |
C |
3: 88,328,031 |
S238P |
probably benign |
Het |
| Gm35315 |
T |
A |
5: 110,078,271 |
Y434F |
probably damaging |
Het |
| Gnpnat1 |
A |
G |
14: 45,383,399 |
F71S |
probably damaging |
Het |
| Gpnmb |
A |
G |
6: 49,042,886 |
R64G |
possibly damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,166,204 |
F275S |
possibly damaging |
Het |
| Ift140 |
T |
A |
17: 25,093,126 |
C1314S |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,489,849 |
I127T |
possibly damaging |
Het |
| Mmd2 |
A |
G |
5: 142,567,863 |
|
probably null |
Het |
| Ms4a3 |
A |
T |
19: 11,639,218 |
V20D |
possibly damaging |
Het |
| Myh7b |
A |
G |
2: 155,618,743 |
E272G |
probably damaging |
Het |
| Naaladl1 |
G |
A |
19: 6,108,713 |
G292S |
probably damaging |
Het |
| Notch2 |
T |
A |
3: 98,135,743 |
Y1475N |
possibly damaging |
Het |
| Obp2a |
G |
A |
2: 25,700,151 |
E21K |
probably damaging |
Het |
| Olfr1019 |
A |
G |
2: 85,841,432 |
Y120H |
probably damaging |
Het |
| Osbpl10 |
T |
A |
9: 115,061,872 |
Y109* |
probably null |
Het |
| Plcd1 |
A |
T |
9: 119,072,041 |
W749R |
probably benign |
Het |
| Ptpro |
A |
G |
6: 137,400,706 |
E718G |
possibly damaging |
Het |
| Rbm4 |
C |
T |
19: 4,787,919 |
R295H |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,994,649 |
P44L |
unknown |
Het |
| Setdb2 |
T |
C |
14: 59,409,532 |
|
probably null |
Het |
| Slc25a18 |
C |
A |
6: 120,789,438 |
L131I |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,234,465 |
H221R |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,150,883 |
W757R |
probably damaging |
Het |
| Tmem183a |
C |
A |
1: 134,348,146 |
V331L |
probably benign |
Het |
| Try10 |
C |
A |
6: 41,356,550 |
H76Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,918,255 |
H4150L |
probably benign |
Het |
| Vmn2r52 |
G |
A |
7: 10,171,400 |
P171S |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,415,369 |
T450A |
probably benign |
Het |
| Yipf7 |
A |
T |
5: 69,541,062 |
V34D |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,912,085 |
P125L |
probably damaging |
Het |
| Zg16 |
A |
G |
7: 127,050,576 |
V71A |
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 |
|
|
R4043:Adgrf3
|
UTSW |
5 |
30,204,362 (GRCm38) |
missense |
probably benign |
0.00 |
|
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 |
|
|
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'- GACTGCATACTGATAATTTCCAGAC -3'
(R):5'- TGTCATCGCTGTGCTGAAGC -3'
Sequencing Primer
(F):5'- AACTCAGACGGGTTATGGAATTTGC -3'
(R):5'- TGAAGCTGCTGCGACCTTC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation