Incidental Mutation 'R6605:Gpr19'
| ID |
525582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr19
|
| Ensembl Gene |
ENSMUSG00000032641 |
| Gene Name |
G protein-coupled receptor 19 |
| Synonyms |
|
| MMRRC Submission |
044728-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6605 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
134846055-134875157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134847398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 58
(N58S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046255]
[ENSMUST00000066107]
[ENSMUST00000111932]
[ENSMUST00000116515]
[ENSMUST00000165392]
[ENSMUST00000203409]
[ENSMUST00000203762]
[ENSMUST00000204880]
[ENSMUST00000215088]
|
| AlphaFold |
Q61121 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046255
AA Change: N9S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047630
Gene: ENSMUSG00000032641
AA Change: N9S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
76 |
345 |
1.7e-12 |
PFAM |
|
Pfam:7tm_1
|
82 |
330 |
1.8e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066107
AA Change: N95S
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000066287
Gene: ENSMUSG00000032641
AA Change: N95S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
76 |
345 |
1.7e-12 |
PFAM |
|
Pfam:7tm_1
|
82 |
330 |
5.3e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111932
AA Change: N3S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107563
Gene: ENSMUSG00000032641
AA Change: N3S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
70 |
339 |
2.6e-12 |
PFAM |
|
Pfam:7tm_1
|
76 |
324 |
3.5e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116515
AA Change: N3S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112214
Gene: ENSMUSG00000032641
AA Change: N3S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
70 |
339 |
2.6e-12 |
PFAM |
|
Pfam:7tm_1
|
76 |
324 |
3.5e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165392
AA Change: N3S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127876
Gene: ENSMUSG00000032641
AA Change: N3S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
70 |
339 |
2.6e-12 |
PFAM |
|
Pfam:7tm_1
|
76 |
324 |
3.5e-50 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203409
AA Change: N3S
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000145128
Gene: ENSMUSG00000032641
AA Change: N3S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
70 |
132 |
9e-5 |
PFAM |
|
Pfam:7tm_1
|
76 |
135 |
2.6e-16 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000203762
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204880
AA Change: N3S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000144918
Gene: ENSMUSG00000032641
AA Change: N3S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
59 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215088
AA Change: N58S
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
92% (35/38) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in increased anxiety-like behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
A |
7: 45,630,481 (GRCm39) |
I1260F |
probably damaging |
Het |
| Acat2 |
A |
G |
17: 13,162,774 (GRCm39) |
V358A |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,636,081 (GRCm39) |
A3476V |
possibly damaging |
Het |
| Akap13 |
A |
G |
7: 75,229,516 (GRCm39) |
N150D |
probably damaging |
Het |
| Asb2 |
G |
T |
12: 103,311,943 (GRCm39) |
Q60K |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,650,134 (GRCm39) |
R708* |
probably null |
Het |
| Cd79b |
C |
T |
11: 106,203,539 (GRCm39) |
G116D |
probably damaging |
Het |
| Copg2 |
A |
G |
6: 30,835,757 (GRCm39) |
F218S |
probably benign |
Het |
| Defa5 |
A |
C |
8: 21,787,604 (GRCm39) |
E50D |
possibly damaging |
Het |
| Efcab3 |
T |
A |
11: 104,890,107 (GRCm39) |
|
probably null |
Het |
| Eva1c |
T |
A |
16: 90,663,236 (GRCm39) |
V91D |
probably damaging |
Het |
| Fosb |
T |
C |
7: 19,043,283 (GRCm39) |
Y25C |
probably damaging |
Het |
| Gm5141 |
G |
A |
13: 62,922,201 (GRCm39) |
H323Y |
probably damaging |
Het |
| Gpr26 |
G |
A |
7: 131,585,893 (GRCm39) |
A288T |
possibly damaging |
Het |
| Gucy2g |
T |
A |
19: 55,229,460 (GRCm39) |
Q70L |
probably damaging |
Het |
| Ifit2 |
C |
T |
19: 34,550,897 (GRCm39) |
R146* |
probably null |
Het |
| Lgr5 |
A |
C |
10: 115,293,772 (GRCm39) |
N408K |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Mief1 |
T |
A |
15: 80,132,692 (GRCm39) |
Y191* |
probably null |
Het |
| Npr3 |
C |
G |
15: 11,905,518 (GRCm39) |
A70P |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,208,541 (GRCm39) |
H56L |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,265,032 (GRCm39) |
|
probably null |
Het |
| Pnlip |
A |
T |
19: 58,660,174 (GRCm39) |
D29V |
probably benign |
Het |
| Pnpt1 |
T |
A |
11: 29,088,567 (GRCm39) |
F277I |
possibly damaging |
Het |
| Pou2f2 |
A |
C |
7: 24,793,006 (GRCm39) |
V441G |
probably damaging |
Het |
| Prdm4 |
A |
G |
10: 85,740,002 (GRCm39) |
V459A |
probably benign |
Het |
| Ptprs |
A |
T |
17: 56,729,195 (GRCm39) |
V855E |
probably damaging |
Het |
| Rflna |
A |
G |
5: 125,088,352 (GRCm39) |
T100A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,131,871 (GRCm39) |
S380T |
probably benign |
Het |
| Syn3 |
A |
G |
10: 85,893,428 (GRCm39) |
S472P |
unknown |
Het |
| Taar8a |
A |
T |
10: 23,952,674 (GRCm39) |
I93F |
possibly damaging |
Het |
| Taok2 |
T |
A |
7: 126,477,930 (GRCm39) |
D207V |
probably damaging |
Het |
| Tpst2 |
A |
T |
5: 112,424,600 (GRCm39) |
|
probably benign |
Homo |
| Trdv2-1 |
A |
G |
14: 54,183,999 (GRCm39) |
N77S |
possibly damaging |
Het |
| Wdr17 |
A |
C |
8: 55,134,559 (GRCm39) |
V18G |
probably benign |
Het |
| Zbtb17 |
T |
C |
4: 141,192,261 (GRCm39) |
V402A |
probably damaging |
Het |
| Zfp772 |
T |
C |
7: 7,208,547 (GRCm39) |
E99G |
possibly damaging |
Het |
| Zw10 |
A |
G |
9: 48,980,926 (GRCm39) |
D442G |
probably benign |
Het |
|
| Other mutations in Gpr19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01310:Gpr19
|
APN |
6 |
134,846,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01373:Gpr19
|
APN |
6 |
134,847,284 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01988:Gpr19
|
APN |
6 |
134,846,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1530:Gpr19
|
UTSW |
6 |
134,846,961 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1548:Gpr19
|
UTSW |
6 |
134,847,047 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1699:Gpr19
|
UTSW |
6 |
134,847,192 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2131:Gpr19
|
UTSW |
6 |
134,847,405 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R5016:Gpr19
|
UTSW |
6 |
134,846,880 (GRCm39) |
nonsense |
probably null |
|
|
R7080:Gpr19
|
UTSW |
6 |
134,847,419 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7746:Gpr19
|
UTSW |
6 |
134,846,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8014:Gpr19
|
UTSW |
6 |
134,846,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9176:Gpr19
|
UTSW |
6 |
134,846,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9408:Gpr19
|
UTSW |
6 |
134,864,704 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGGGAATTGCCAAAGATG -3'
(R):5'- ATACATAGTGCTGTGTGCCCG -3'
Sequencing Primer
(F):5'- CGCCAAAGAAGATGCTGGC -3'
(R):5'- CCGGTCTGTGCCATAGTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation