Incidental Mutation 'R4819:Adgrf3'
ID |
370044 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Adgrf3
|
Ensembl Gene |
ENSMUSG00000067642 |
Gene Name |
adhesion G protein-coupled receptor F3 |
Synonyms |
PGR23, LOC381628, Gpr113 |
MMRRC Submission |
042000-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4819 (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 A
at 30403442 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 444
(L444F)
|
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: L444F
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000085440 Gene: ENSMUSG00000067642 AA Change: L444F
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: L444F
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000110422 Gene: ENSMUSG00000067642 AA Change: L444F
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135322
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,240,421 (GRCm39) |
N761K |
possibly damaging |
Het |
Akap8 |
G |
A |
17: 32,531,279 (GRCm39) |
R378W |
probably damaging |
Het |
Amotl2 |
C |
T |
9: 102,607,270 (GRCm39) |
R693W |
probably damaging |
Het |
As3mt |
G |
T |
19: 46,695,968 (GRCm39) |
|
probably benign |
Het |
Atp6v1e2 |
A |
G |
17: 87,251,966 (GRCm39) |
V144A |
probably benign |
Het |
Bfar |
C |
T |
16: 13,505,331 (GRCm39) |
Q114* |
probably null |
Het |
Casd1 |
C |
T |
6: 4,621,225 (GRCm39) |
A261V |
probably damaging |
Het |
Cd177 |
A |
T |
7: 24,451,696 (GRCm39) |
I440K |
probably damaging |
Het |
Cfap54 |
G |
T |
10: 92,672,339 (GRCm39) |
Y2910* |
probably null |
Het |
Csl |
A |
G |
10: 99,593,944 (GRCm39) |
F374L |
possibly damaging |
Het |
Dctn1 |
G |
A |
6: 83,167,501 (GRCm39) |
R275H |
probably damaging |
Het |
Derl3 |
A |
G |
10: 75,729,713 (GRCm39) |
|
probably null |
Het |
Dst |
A |
G |
1: 34,007,916 (GRCm39) |
I117V |
probably benign |
Het |
Edc3 |
T |
A |
9: 57,655,680 (GRCm39) |
C477S |
possibly damaging |
Het |
Efs |
T |
C |
14: 55,154,610 (GRCm39) |
E450G |
probably damaging |
Het |
Fcrla |
T |
A |
1: 170,748,508 (GRCm39) |
I212F |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,818,786 (GRCm39) |
I4840V |
probably benign |
Het |
Gpam |
T |
A |
19: 55,066,773 (GRCm39) |
I581F |
probably benign |
Het |
Greb1l |
A |
G |
18: 10,458,358 (GRCm39) |
D45G |
probably damaging |
Het |
Heca |
A |
G |
10: 17,783,820 (GRCm39) |
Y478H |
probably damaging |
Het |
Hspa9 |
C |
T |
18: 35,072,441 (GRCm39) |
M561I |
probably damaging |
Het |
Hyal6 |
T |
A |
6: 24,734,965 (GRCm39) |
Y299* |
probably null |
Het |
Iho1 |
A |
G |
9: 108,283,877 (GRCm39) |
V189A |
probably benign |
Het |
Ik |
T |
A |
18: 36,886,310 (GRCm39) |
|
probably null |
Het |
Khsrp |
A |
G |
17: 57,330,360 (GRCm39) |
S582P |
possibly damaging |
Het |
Kif18a |
A |
G |
2: 109,122,471 (GRCm39) |
D182G |
probably damaging |
Het |
Krt1c |
T |
C |
15: 101,719,979 (GRCm39) |
T564A |
unknown |
Het |
Lig4 |
A |
G |
8: 10,021,885 (GRCm39) |
S632P |
probably benign |
Het |
Med1 |
C |
T |
11: 98,046,258 (GRCm39) |
|
probably benign |
Het |
Mgat3 |
T |
A |
15: 80,096,550 (GRCm39) |
I459N |
probably damaging |
Het |
Mkln1 |
A |
T |
6: 31,451,421 (GRCm39) |
Q454L |
probably benign |
Het |
Mn1 |
A |
G |
5: 111,567,803 (GRCm39) |
E591G |
possibly damaging |
Het |
Myo5c |
T |
A |
9: 75,199,484 (GRCm39) |
L1364Q |
probably damaging |
Het |
Oas1d |
T |
C |
5: 121,053,780 (GRCm39) |
V80A |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,929,674 (GRCm39) |
D5180E |
probably damaging |
Het |
Pax6 |
G |
A |
2: 105,522,622 (GRCm39) |
|
probably null |
Het |
Pcdh15 |
A |
C |
10: 74,160,221 (GRCm39) |
N446T |
probably damaging |
Het |
Pcnx2 |
A |
T |
8: 126,581,969 (GRCm39) |
F922L |
probably benign |
Het |
Ptpn4 |
G |
T |
1: 119,587,580 (GRCm39) |
T921K |
probably benign |
Het |
Selenov |
A |
G |
7: 27,989,746 (GRCm39) |
|
probably null |
Het |
Tmem100 |
A |
G |
11: 89,926,271 (GRCm39) |
T33A |
probably benign |
Het |
Tmem59 |
C |
T |
4: 107,044,878 (GRCm39) |
Q66* |
probably null |
Het |
Trav21-dv12 |
T |
A |
14: 54,114,070 (GRCm39) |
Y63* |
probably null |
Het |
Trim66 |
G |
T |
7: 109,056,793 (GRCm39) |
H1121Q |
probably damaging |
Het |
Trim80 |
A |
G |
11: 115,338,769 (GRCm39) |
Y533C |
probably damaging |
Het |
Ttc17 |
G |
A |
2: 94,194,955 (GRCm39) |
P520L |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,622,093 (GRCm39) |
V15483E |
probably damaging |
Het |
Vinac1 |
G |
T |
2: 128,882,721 (GRCm39) |
N98K |
probably damaging |
Het |
Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
Zfhx4 |
C |
A |
3: 5,468,974 (GRCm39) |
T3069K |
probably benign |
Het |
Zfp281 |
A |
G |
1: 136,553,448 (GRCm39) |
H142R |
probably benign |
Het |
Zfp462 |
G |
T |
4: 55,060,044 (GRCm39) |
R1190L |
probably damaging |
Het |
Zfp935 |
T |
A |
13: 62,602,231 (GRCm39) |
H323L |
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 |
|
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'- TTACAGAGATAGCAGGAACCCC -3'
(R):5'- GTAGCCGTTCCTTCTGCATG -3'
Sequencing Primer
(F):5'- GCCTAAAAAGGTCCCTGTTGG -3'
(R):5'- TCCTCTGAGGGGTGCAG -3'
|
Posted On |
2016-02-04 |