Incidental Mutation 'R2416:Gpr160'
ID |
249000 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpr160
|
Ensembl Gene |
ENSMUSG00000037661 |
Gene Name |
G protein-coupled receptor 160 |
Synonyms |
1700025D19Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2416 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
30910099-30951341 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30950158 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 77
(T77A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128666
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046624]
[ENSMUST00000046748]
[ENSMUST00000108258]
[ENSMUST00000108259]
[ENSMUST00000108261]
[ENSMUST00000147697]
[ENSMUST00000166278]
[ENSMUST00000168645]
[ENSMUST00000194979]
|
AlphaFold |
Q3U3F9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046624
|
SMART Domains |
Protein: ENSMUSP00000037862 Gene: ENSMUSG00000037652
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
40 |
N/A |
INTRINSIC |
low complexity region
|
72 |
89 |
N/A |
INTRINSIC |
low complexity region
|
92 |
142 |
N/A |
INTRINSIC |
low complexity region
|
152 |
166 |
N/A |
INTRINSIC |
low complexity region
|
206 |
224 |
N/A |
INTRINSIC |
low complexity region
|
333 |
359 |
N/A |
INTRINSIC |
low complexity region
|
393 |
419 |
N/A |
INTRINSIC |
low complexity region
|
512 |
538 |
N/A |
INTRINSIC |
low complexity region
|
564 |
578 |
N/A |
INTRINSIC |
low complexity region
|
583 |
594 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000046748
AA Change: T77A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000045165 Gene: ENSMUSG00000037661 AA Change: T77A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
transmembrane domain
|
54 |
76 |
N/A |
INTRINSIC |
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
transmembrane domain
|
185 |
207 |
N/A |
INTRINSIC |
transmembrane domain
|
240 |
262 |
N/A |
INTRINSIC |
transmembrane domain
|
277 |
294 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108258
AA Change: T77A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000103893 Gene: ENSMUSG00000037661 AA Change: T77A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
transmembrane domain
|
54 |
76 |
N/A |
INTRINSIC |
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
transmembrane domain
|
185 |
207 |
N/A |
INTRINSIC |
transmembrane domain
|
240 |
262 |
N/A |
INTRINSIC |
transmembrane domain
|
277 |
294 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108259
AA Change: T77A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000103894 Gene: ENSMUSG00000037661 AA Change: T77A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
transmembrane domain
|
54 |
76 |
N/A |
INTRINSIC |
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
transmembrane domain
|
185 |
207 |
N/A |
INTRINSIC |
transmembrane domain
|
240 |
262 |
N/A |
INTRINSIC |
transmembrane domain
|
277 |
294 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108261
AA Change: T77A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000103896 Gene: ENSMUSG00000037661 AA Change: T77A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
transmembrane domain
|
54 |
76 |
N/A |
INTRINSIC |
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
transmembrane domain
|
185 |
207 |
N/A |
INTRINSIC |
transmembrane domain
|
240 |
262 |
N/A |
INTRINSIC |
transmembrane domain
|
277 |
294 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147697
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166278
AA Change: T77A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000128666 Gene: ENSMUSG00000037661 AA Change: T77A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
transmembrane domain
|
54 |
76 |
N/A |
INTRINSIC |
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
transmembrane domain
|
185 |
207 |
N/A |
INTRINSIC |
transmembrane domain
|
240 |
262 |
N/A |
INTRINSIC |
transmembrane domain
|
277 |
294 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168645
|
SMART Domains |
Protein: ENSMUSP00000130142 Gene: ENSMUSG00000037652
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
28 |
N/A |
INTRINSIC |
low complexity region
|
60 |
77 |
N/A |
INTRINSIC |
low complexity region
|
80 |
130 |
N/A |
INTRINSIC |
low complexity region
|
140 |
154 |
N/A |
INTRINSIC |
low complexity region
|
194 |
212 |
N/A |
INTRINSIC |
low complexity region
|
321 |
347 |
N/A |
INTRINSIC |
low complexity region
|
381 |
407 |
N/A |
INTRINSIC |
low complexity region
|
500 |
526 |
N/A |
INTRINSIC |
low complexity region
|
552 |
566 |
N/A |
INTRINSIC |
low complexity region
|
571 |
601 |
N/A |
INTRINSIC |
low complexity region
|
640 |
648 |
N/A |
INTRINSIC |
low complexity region
|
658 |
686 |
N/A |
INTRINSIC |
PDB:2L8E|A
|
775 |
811 |
7e-9 |
PDB |
low complexity region
|
879 |
898 |
N/A |
INTRINSIC |
SAM
|
914 |
980 |
1.6e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194979
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
C |
14: 32,385,791 (GRCm39) |
D58G |
probably benign |
Het |
Atp8a2 |
T |
C |
14: 60,162,457 (GRCm39) |
R755G |
probably damaging |
Het |
Bard1 |
G |
T |
1: 71,113,811 (GRCm39) |
T390N |
probably benign |
Het |
Birc6 |
T |
C |
17: 74,915,214 (GRCm39) |
S1635P |
possibly damaging |
Het |
Cep152 |
A |
T |
2: 125,406,092 (GRCm39) |
L1480* |
probably null |
Het |
Cryba1 |
T |
A |
11: 77,611,726 (GRCm39) |
I116F |
probably damaging |
Het |
Cttnbp2 |
A |
G |
6: 18,448,285 (GRCm39) |
S125P |
probably damaging |
Het |
Cyp2b13 |
A |
G |
7: 25,795,246 (GRCm39) |
*492W |
probably null |
Het |
Eif3m |
G |
T |
2: 104,844,178 (GRCm39) |
P76T |
probably benign |
Het |
Eya1 |
A |
G |
1: 14,340,927 (GRCm39) |
|
probably null |
Het |
Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
Fat1 |
T |
C |
8: 45,479,420 (GRCm39) |
I2822T |
probably damaging |
Het |
Glyat |
T |
A |
19: 12,628,618 (GRCm39) |
S138T |
possibly damaging |
Het |
Hdac1-ps |
G |
T |
17: 78,799,945 (GRCm39) |
W312L |
probably damaging |
Het |
Krt19 |
T |
C |
11: 100,036,433 (GRCm39) |
I85V |
probably benign |
Het |
Mbtps1 |
A |
G |
8: 120,265,656 (GRCm39) |
I297T |
probably damaging |
Het |
Park7 |
A |
G |
4: 150,992,858 (GRCm39) |
S3P |
probably benign |
Het |
Rtel1 |
C |
T |
2: 180,982,324 (GRCm39) |
T358I |
possibly damaging |
Het |
Slc11a1 |
T |
C |
1: 74,422,803 (GRCm39) |
L311P |
probably damaging |
Het |
Ulk2 |
C |
T |
11: 61,672,865 (GRCm39) |
G910R |
probably damaging |
Het |
Zdhhc14 |
G |
A |
17: 5,803,283 (GRCm39) |
R462H |
probably benign |
Het |
Zfp382 |
A |
G |
7: 29,833,828 (GRCm39) |
Y493C |
probably damaging |
Het |
|
Other mutations in Gpr160 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00768:Gpr160
|
APN |
3 |
30,950,098 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01505:Gpr160
|
APN |
3 |
30,950,002 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02952:Gpr160
|
APN |
3 |
30,950,443 (GRCm39) |
missense |
probably benign |
0.00 |
R2259:Gpr160
|
UTSW |
3 |
30,950,444 (GRCm39) |
missense |
probably damaging |
0.99 |
R4191:Gpr160
|
UTSW |
3 |
30,950,863 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4688:Gpr160
|
UTSW |
3 |
30,950,835 (GRCm39) |
missense |
probably benign |
0.28 |
R5987:Gpr160
|
UTSW |
3 |
30,950,612 (GRCm39) |
missense |
probably benign |
|
R6209:Gpr160
|
UTSW |
3 |
30,950,141 (GRCm39) |
missense |
possibly damaging |
0.56 |
R6353:Gpr160
|
UTSW |
3 |
30,950,171 (GRCm39) |
missense |
probably damaging |
1.00 |
R7075:Gpr160
|
UTSW |
3 |
30,950,926 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8261:Gpr160
|
UTSW |
3 |
30,950,096 (GRCm39) |
missense |
probably benign |
0.08 |
R8381:Gpr160
|
UTSW |
3 |
30,949,930 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R8785:Gpr160
|
UTSW |
3 |
30,950,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R9273:Gpr160
|
UTSW |
3 |
30,950,038 (GRCm39) |
missense |
probably benign |
0.45 |
R9487:Gpr160
|
UTSW |
3 |
30,950,914 (GRCm39) |
missense |
probably benign |
0.44 |
R9728:Gpr160
|
UTSW |
3 |
30,950,144 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- CGTCAGACTGCCTTGAAATTTAAC -3'
(R):5'- TAGATGACTGCTTGCTGGCTC -3'
Sequencing Primer
(F):5'- AGCTCTTTCTTCAAAGAACTGC -3'
(R):5'- TGGCTCTGGACAGATTACACCAG -3'
|
Posted On |
2014-11-12 |