Incidental Mutation 'R4288:Gpr37l1'
ID |
322084 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpr37l1
|
Ensembl Gene |
ENSMUSG00000026424 |
Gene Name |
G protein-coupled receptor 37-like 1 |
Synonyms |
D0Kist8, CAG-18 |
MMRRC Submission |
041653-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R4288 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
135087988-135095419 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 135088922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 381
(V381A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027682
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027682]
[ENSMUST00000027684]
|
AlphaFold |
Q99JG2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027682
AA Change: V381A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027682 Gene: ENSMUSG00000026424 AA Change: V381A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:7tm_1
|
147 |
416 |
4.4e-25 |
PFAM |
low complexity region
|
430 |
439 |
N/A |
INTRINSIC |
low complexity region
|
442 |
453 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000027684
|
SMART Domains |
Protein: ENSMUSP00000027684 Gene: ENSMUSG00000026426
Domain | Start | End | E-Value | Type |
ARF
|
1 |
185 |
2.25e-31 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125774
|
SMART Domains |
Protein: ENSMUSP00000121545 Gene: ENSMUSG00000026426
Domain | Start | End | E-Value | Type |
Pfam:Roc
|
16 |
113 |
1e-12 |
PFAM |
Pfam:Ras
|
18 |
162 |
4.2e-16 |
PFAM |
Pfam:Arf
|
19 |
160 |
6.6e-41 |
PFAM |
Pfam:Gtr1_RagA
|
26 |
155 |
3.7e-9 |
PFAM |
|
Meta Mutation Damage Score |
0.1539 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
97% (34/35) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele may exhibit no abnormal phenotype, precocious cerebellum development and improved motor functions or abnormal blood pressure in female mice. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acmsd |
G |
A |
1: 127,666,309 (GRCm39) |
V27M |
probably damaging |
Het |
Acsl6 |
A |
G |
11: 54,227,912 (GRCm39) |
T311A |
probably benign |
Het |
Adss2 |
G |
A |
1: 177,604,078 (GRCm39) |
R176W |
probably damaging |
Het |
Akr7a5 |
T |
C |
4: 139,041,415 (GRCm39) |
V108A |
probably benign |
Het |
Atp13a1 |
A |
G |
8: 70,246,728 (GRCm39) |
D209G |
possibly damaging |
Het |
Bpnt2 |
A |
C |
4: 4,778,231 (GRCm39) |
V169G |
probably damaging |
Het |
Cdcp1 |
T |
A |
9: 123,012,693 (GRCm39) |
I285F |
probably damaging |
Het |
Ctnna2 |
C |
T |
6: 77,582,204 (GRCm39) |
R339Q |
probably damaging |
Het |
E130308A19Rik |
G |
A |
4: 59,690,308 (GRCm39) |
M47I |
probably benign |
Het |
Exosc9 |
C |
T |
3: 36,617,365 (GRCm39) |
T373I |
probably benign |
Het |
Fat4 |
T |
A |
3: 38,945,912 (GRCm39) |
S1602T |
probably damaging |
Het |
Fbn2 |
T |
C |
18: 58,168,411 (GRCm39) |
I2309V |
probably damaging |
Het |
Fbxo42 |
T |
C |
4: 140,895,207 (GRCm39) |
Y57H |
probably damaging |
Het |
Fcrl5 |
A |
G |
3: 87,349,531 (GRCm39) |
D102G |
probably benign |
Het |
Garin5b |
T |
A |
7: 4,773,722 (GRCm39) |
N58Y |
possibly damaging |
Het |
Hc |
G |
T |
2: 34,920,414 (GRCm39) |
A644E |
probably damaging |
Het |
Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
Lpar5 |
T |
C |
6: 125,058,827 (GRCm39) |
Y183H |
probably benign |
Het |
Ltn1 |
T |
A |
16: 87,194,876 (GRCm39) |
N1341I |
possibly damaging |
Het |
Mms19 |
A |
G |
19: 41,933,992 (GRCm39) |
L938P |
probably damaging |
Het |
Neb |
T |
G |
2: 52,149,312 (GRCm39) |
E2516D |
probably damaging |
Het |
Parp4 |
T |
C |
14: 56,844,951 (GRCm39) |
V614A |
probably damaging |
Het |
Pogk |
A |
G |
1: 166,231,075 (GRCm39) |
L84P |
probably damaging |
Het |
Stard13 |
G |
A |
5: 150,968,642 (GRCm39) |
T994M |
probably damaging |
Het |
Stk4 |
A |
G |
2: 163,941,632 (GRCm39) |
S283G |
probably benign |
Het |
Ttn |
T |
C |
2: 76,640,742 (GRCm39) |
T13669A |
probably benign |
Het |
Vil1 |
A |
G |
1: 74,457,684 (GRCm39) |
T106A |
probably benign |
Het |
Vmn1r18 |
A |
G |
6: 57,367,392 (GRCm39) |
L54P |
probably damaging |
Het |
Vmn1r227 |
G |
T |
17: 20,956,092 (GRCm39) |
|
noncoding transcript |
Het |
Zfp267 |
A |
G |
3: 36,213,747 (GRCm39) |
N27S |
possibly damaging |
Het |
Zfp748 |
T |
A |
13: 67,689,202 (GRCm39) |
H686L |
probably damaging |
Het |
Zyg11a |
C |
T |
4: 108,041,666 (GRCm39) |
S658N |
probably damaging |
Het |
|
Other mutations in Gpr37l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00498:Gpr37l1
|
APN |
1 |
135,089,440 (GRCm39) |
splice site |
probably benign |
|
IGL01362:Gpr37l1
|
APN |
1 |
135,089,216 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01678:Gpr37l1
|
APN |
1 |
135,094,791 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02394:Gpr37l1
|
APN |
1 |
135,094,746 (GRCm39) |
missense |
probably damaging |
1.00 |
ventura
|
UTSW |
1 |
135,088,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R0045:Gpr37l1
|
UTSW |
1 |
135,088,883 (GRCm39) |
missense |
probably damaging |
1.00 |
R1199:Gpr37l1
|
UTSW |
1 |
135,094,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R1730:Gpr37l1
|
UTSW |
1 |
135,089,268 (GRCm39) |
nonsense |
probably null |
|
R1733:Gpr37l1
|
UTSW |
1 |
135,089,273 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1755:Gpr37l1
|
UTSW |
1 |
135,094,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R3930:Gpr37l1
|
UTSW |
1 |
135,089,100 (GRCm39) |
missense |
probably benign |
0.01 |
R4091:Gpr37l1
|
UTSW |
1 |
135,089,301 (GRCm39) |
missense |
probably benign |
0.25 |
R4111:Gpr37l1
|
UTSW |
1 |
135,095,008 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4739:Gpr37l1
|
UTSW |
1 |
135,094,783 (GRCm39) |
missense |
probably damaging |
0.99 |
R5114:Gpr37l1
|
UTSW |
1 |
135,094,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R6765:Gpr37l1
|
UTSW |
1 |
135,094,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R8441:Gpr37l1
|
UTSW |
1 |
135,094,875 (GRCm39) |
missense |
probably damaging |
0.97 |
R8734:Gpr37l1
|
UTSW |
1 |
135,095,167 (GRCm39) |
missense |
probably benign |
|
R9122:Gpr37l1
|
UTSW |
1 |
135,095,209 (GRCm39) |
missense |
probably benign |
0.00 |
R9715:Gpr37l1
|
UTSW |
1 |
135,089,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CATAGACTCAGCAAGGGGTG -3'
(R):5'- ATGACCTACCAGAATGCCCG -3'
Sequencing Primer
(F):5'- ACTCCCTGGGCTTGTGGAAG -3'
(R):5'- TACCAGAATGCCCGCATGTG -3'
|
Posted On |
2015-06-20 |