Incidental Mutation 'R2230:Adgrf4'
| ID |
240018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Adgrf4
|
| Ensembl Gene |
ENSMUSG00000023918 |
| Gene Name |
adhesion G protein-coupled receptor F4 |
| Synonyms |
4632435A09Rik, Gpr115 |
| MMRRC Submission |
040231-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2230 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
42967782-43003175 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 42977789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 518
(R518Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024711]
[ENSMUST00000167993]
[ENSMUST00000170723]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000024711
AA Change: R518Q
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000024711
Gene: ENSMUSG00000023918
AA Change: R518Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
263 |
N/A |
INTRINSIC |
|
GPS
|
349 |
400 |
1.25e-8 |
SMART |
|
Pfam:7tm_2
|
402 |
653 |
5.9e-36 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167993
AA Change: R518Q
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132890
Gene: ENSMUSG00000023918
AA Change: R518Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
263 |
N/A |
INTRINSIC |
|
GPS
|
349 |
400 |
1.25e-8 |
SMART |
|
Pfam:7tm_2
|
402 |
653 |
5.9e-36 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170723
AA Change: R518Q
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133261
Gene: ENSMUSG00000023918
AA Change: R518Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
263 |
N/A |
INTRINSIC |
|
GPS
|
349 |
400 |
1.25e-8 |
SMART |
|
Pfam:7tm_2
|
402 |
653 |
9.2e-36 |
PFAM |
|
| Meta Mutation Damage Score |
0.0915 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (62/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sequence analysis of this gene suggests that it is encodes a member of the superfamily of G protein-couple receptors. G protein-coupled receptors typically contain seven hydrophobic transmembrane domains, interact with guanine nucleotide binding regulatory proteins, and detect molecules outside the cell and act to transduce these signals into intracellular responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a reporter allele exhibit normal viability and fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
A |
T |
7: 133,521,347 (GRCm39) |
N280K |
probably damaging |
Het |
| Ankra2 |
T |
C |
13: 98,407,646 (GRCm39) |
F199L |
probably damaging |
Het |
| Ankrd63 |
A |
G |
2: 118,533,846 (GRCm39) |
|
probably benign |
Het |
| Apoa2 |
A |
G |
1: 171,053,340 (GRCm39) |
K53R |
probably benign |
Het |
| Atr |
A |
G |
9: 95,802,818 (GRCm39) |
R1827G |
probably damaging |
Het |
| Ccdc61 |
T |
C |
7: 18,625,032 (GRCm39) |
E502G |
probably damaging |
Het |
| Ccn2 |
T |
A |
10: 24,472,371 (GRCm39) |
M138K |
possibly damaging |
Het |
| Cdon |
T |
C |
9: 35,403,222 (GRCm39) |
|
probably null |
Het |
| Cyp2c68 |
T |
A |
19: 39,687,804 (GRCm39) |
S398C |
probably benign |
Het |
| Cyp2e1 |
T |
C |
7: 140,344,827 (GRCm39) |
S98P |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,244,323 (GRCm39) |
I1036F |
probably damaging |
Het |
| Entpd7 |
T |
C |
19: 43,710,255 (GRCm39) |
V304A |
probably benign |
Het |
| Entrep2 |
G |
A |
7: 64,408,970 (GRCm39) |
H475Y |
probably damaging |
Het |
| Ergic3 |
A |
G |
2: 155,859,736 (GRCm39) |
T346A |
probably damaging |
Het |
| F2 |
T |
C |
2: 91,456,102 (GRCm39) |
D553G |
probably benign |
Het |
| Fam227a |
T |
A |
15: 79,499,582 (GRCm39) |
Y591F |
possibly damaging |
Het |
| Gal3st1 |
T |
C |
11: 3,948,282 (GRCm39) |
I163T |
probably benign |
Het |
| Gm10650 |
A |
G |
3: 127,833,412 (GRCm39) |
|
noncoding transcript |
Het |
| Gm21850 |
G |
T |
2: 153,900,248 (GRCm39) |
V202L |
probably benign |
Het |
| Hdc |
T |
A |
2: 126,435,938 (GRCm39) |
E644D |
possibly damaging |
Het |
| Hypk |
G |
A |
2: 121,287,773 (GRCm39) |
|
probably null |
Het |
| Kif21a |
G |
A |
15: 90,869,565 (GRCm39) |
Q429* |
probably null |
Het |
| Mgll |
G |
A |
6: 88,802,714 (GRCm39) |
V318M |
possibly damaging |
Het |
| Mrgprb3 |
T |
C |
7: 48,292,770 (GRCm39) |
I260M |
probably benign |
Het |
| Musk |
A |
T |
4: 58,333,672 (GRCm39) |
I256F |
possibly damaging |
Het |
| Myl3 |
T |
C |
9: 110,596,979 (GRCm39) |
L113P |
probably damaging |
Het |
| Myo5c |
A |
G |
9: 75,180,888 (GRCm39) |
D759G |
probably benign |
Het |
| Nkx2-1 |
G |
A |
12: 56,580,071 (GRCm39) |
Q290* |
probably null |
Het |
| Oaz3 |
T |
C |
3: 94,341,846 (GRCm39) |
T130A |
probably benign |
Het |
| Or10j7 |
A |
G |
1: 173,011,182 (GRCm39) |
I273T |
probably benign |
Het |
| Or4c3d |
A |
T |
2: 89,882,569 (GRCm39) |
F33Y |
probably benign |
Het |
| Or7g16 |
A |
G |
9: 18,727,021 (GRCm39) |
S190P |
probably damaging |
Het |
| Or8c13 |
T |
C |
9: 38,091,442 (GRCm39) |
T226A |
probably benign |
Het |
| Pabpc2 |
G |
A |
18: 39,908,123 (GRCm39) |
V463I |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,278,143 (GRCm39) |
C254S |
probably damaging |
Het |
| Plxnd1 |
C |
A |
6: 115,941,105 (GRCm39) |
R1302L |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,941,610 (GRCm39) |
|
probably benign |
Het |
| Ppl |
G |
A |
16: 4,906,845 (GRCm39) |
T1150I |
possibly damaging |
Het |
| Prkag2 |
G |
T |
5: 25,113,362 (GRCm39) |
A113E |
probably benign |
Het |
| Proz |
A |
G |
8: 13,113,356 (GRCm39) |
Y59C |
probably damaging |
Het |
| Prr5 |
T |
C |
15: 84,586,981 (GRCm39) |
S244P |
probably benign |
Het |
| Sec14l5 |
A |
G |
16: 4,994,345 (GRCm39) |
T380A |
probably damaging |
Het |
| Snw1 |
A |
G |
12: 87,499,428 (GRCm39) |
V391A |
probably benign |
Het |
| Sp2 |
C |
T |
11: 96,846,762 (GRCm39) |
C527Y |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,425,606 (GRCm39) |
I76V |
probably damaging |
Het |
| Sspo |
C |
A |
6: 48,477,437 (GRCm39) |
Q5123K |
probably benign |
Het |
| Tbc1d21 |
A |
C |
9: 58,270,363 (GRCm39) |
N137K |
probably damaging |
Het |
| Tek |
G |
A |
4: 94,699,573 (GRCm39) |
C317Y |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,346,453 (GRCm39) |
D1328G |
probably damaging |
Het |
| Topbp1 |
T |
A |
9: 103,223,047 (GRCm39) |
I1377N |
probably damaging |
Het |
| Trmt9b |
T |
A |
8: 36,979,707 (GRCm39) |
C437S |
probably damaging |
Het |
| Ttf2 |
A |
G |
3: 100,865,260 (GRCm39) |
V544A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,774,497 (GRCm39) |
F2136L |
probably damaging |
Het |
| Ugt2b38 |
A |
G |
5: 87,569,527 (GRCm39) |
F267L |
probably benign |
Het |
| Usb1 |
T |
G |
8: 96,070,674 (GRCm39) |
L200R |
probably damaging |
Het |
| Vwa5a |
G |
A |
9: 38,645,174 (GRCm39) |
G420R |
probably null |
Het |
| Vwa8 |
T |
C |
14: 79,329,843 (GRCm39) |
|
probably null |
Het |
| Zfp708 |
A |
T |
13: 67,219,036 (GRCm39) |
Y229* |
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,775,242 (GRCm39) |
M1745K |
probably damaging |
Het |
|
| Other mutations in Adgrf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Adgrf4
|
APN |
17 |
42,977,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00474:Adgrf4
|
APN |
17 |
42,986,650 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00913:Adgrf4
|
APN |
17 |
42,977,793 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02134:Adgrf4
|
APN |
17 |
42,980,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02225:Adgrf4
|
APN |
17 |
42,974,269 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02423:Adgrf4
|
APN |
17 |
42,983,467 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02945:Adgrf4
|
APN |
17 |
42,978,257 (GRCm39) |
missense |
probably benign |
|
|
R0329:Adgrf4
|
UTSW |
17 |
42,978,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0330:Adgrf4
|
UTSW |
17 |
42,978,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1595:Adgrf4
|
UTSW |
17 |
42,978,764 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1739:Adgrf4
|
UTSW |
17 |
42,977,789 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1762:Adgrf4
|
UTSW |
17 |
42,977,789 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1783:Adgrf4
|
UTSW |
17 |
42,977,789 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1785:Adgrf4
|
UTSW |
17 |
42,977,789 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2038:Adgrf4
|
UTSW |
17 |
42,978,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Adgrf4
|
UTSW |
17 |
42,977,789 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2140:Adgrf4
|
UTSW |
17 |
42,977,789 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2142:Adgrf4
|
UTSW |
17 |
42,977,789 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2232:Adgrf4
|
UTSW |
17 |
42,977,789 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2288:Adgrf4
|
UTSW |
17 |
42,978,402 (GRCm39) |
missense |
probably benign |
|
|
R3107:Adgrf4
|
UTSW |
17 |
42,977,758 (GRCm39) |
nonsense |
probably null |
|
|
R3732:Adgrf4
|
UTSW |
17 |
42,983,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4003:Adgrf4
|
UTSW |
17 |
42,980,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4158:Adgrf4
|
UTSW |
17 |
42,978,568 (GRCm39) |
missense |
probably benign |
|
|
R4160:Adgrf4
|
UTSW |
17 |
42,978,568 (GRCm39) |
missense |
probably benign |
|
|
R4163:Adgrf4
|
UTSW |
17 |
42,978,477 (GRCm39) |
missense |
probably benign |
|
|
R4865:Adgrf4
|
UTSW |
17 |
42,978,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4940:Adgrf4
|
UTSW |
17 |
42,977,420 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5411:Adgrf4
|
UTSW |
17 |
42,978,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5512:Adgrf4
|
UTSW |
17 |
42,978,176 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6421:Adgrf4
|
UTSW |
17 |
42,983,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7089:Adgrf4
|
UTSW |
17 |
42,977,424 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7261:Adgrf4
|
UTSW |
17 |
42,978,326 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7359:Adgrf4
|
UTSW |
17 |
42,978,003 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7502:Adgrf4
|
UTSW |
17 |
42,980,548 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7522:Adgrf4
|
UTSW |
17 |
42,980,675 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7555:Adgrf4
|
UTSW |
17 |
42,983,494 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7567:Adgrf4
|
UTSW |
17 |
42,978,333 (GRCm39) |
missense |
probably benign |
|
|
R7743:Adgrf4
|
UTSW |
17 |
42,983,453 (GRCm39) |
nonsense |
probably null |
|
|
R8002:Adgrf4
|
UTSW |
17 |
42,978,683 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8210:Adgrf4
|
UTSW |
17 |
42,978,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8344:Adgrf4
|
UTSW |
17 |
42,977,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8429:Adgrf4
|
UTSW |
17 |
42,978,340 (GRCm39) |
missense |
probably benign |
|
|
R9131:Adgrf4
|
UTSW |
17 |
42,978,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9159:Adgrf4
|
UTSW |
17 |
42,973,293 (GRCm39) |
missense |
probably benign |
|
|
R9214:Adgrf4
|
UTSW |
17 |
42,978,704 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9226:Adgrf4
|
UTSW |
17 |
42,980,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9237:Adgrf4
|
UTSW |
17 |
42,980,782 (GRCm39) |
missense |
probably benign |
|
|
R9546:Adgrf4
|
UTSW |
17 |
42,978,283 (GRCm39) |
nonsense |
probably null |
|
|
X0027:Adgrf4
|
UTSW |
17 |
42,978,419 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGATTCACAGCCACAATG -3'
(R):5'- ATCGTGAACATTGCAGTGTCC -3'
Sequencing Primer
(F):5'- CACAATGGCCAAGGCTGG -3'
(R):5'- TCCTGACTGCCAATGTGTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation