Incidental Mutation 'R4984:Gpr89'
ID |
385781 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gpr89
|
Ensembl Gene |
ENSMUSG00000028096 |
Gene Name |
G protein-coupled receptor 89 |
Synonyms |
SH120, 4933412D19Rik |
MMRRC Submission |
042578-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.383)
|
Stock # |
R4984 (G1)
|
Quality Score |
158 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
96775630-96812662 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 96812512 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 10
(M10L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116016
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029738]
[ENSMUST00000154750]
[ENSMUST00000199597]
|
AlphaFold |
Q8BS95 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029738
AA Change: M10L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000029738 Gene: ENSMUSG00000028096 AA Change: M10L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
transmembrane domain
|
75 |
97 |
N/A |
INTRINSIC |
transmembrane domain
|
110 |
127 |
N/A |
INTRINSIC |
Pfam:GPHR_N
|
140 |
207 |
1.1e-31 |
PFAM |
Pfam:ABA_GPCR
|
276 |
446 |
4.9e-46 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154750
AA Change: M10L
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000116016 Gene: ENSMUSG00000028096 AA Change: M10L
Domain | Start | End | E-Value | Type |
transmembrane domain
|
4 |
26 |
N/A |
INTRINSIC |
transmembrane domain
|
38 |
60 |
N/A |
INTRINSIC |
transmembrane domain
|
75 |
97 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199597
|
SMART Domains |
Protein: ENSMUSP00000143542 Gene: ENSMUSG00000057123
Domain | Start | End | E-Value | Type |
CNX
|
43 |
76 |
3.47e-19 |
SMART |
Connexin_CCC
|
163 |
229 |
2.45e-37 |
SMART |
Pfam:Connexin40_C
|
257 |
358 |
2.4e-33 |
PFAM |
|
Meta Mutation Damage Score |
0.0911 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.4%
|
Validation Efficiency |
98% (41/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adra2a |
T |
C |
19: 54,035,070 (GRCm39) |
I142T |
probably damaging |
Het |
Cd109 |
T |
C |
9: 78,541,959 (GRCm39) |
|
probably null |
Het |
Cdc42bpg |
T |
A |
19: 6,366,253 (GRCm39) |
I812N |
possibly damaging |
Het |
Cftr |
A |
G |
6: 18,235,198 (GRCm39) |
E479G |
possibly damaging |
Het |
Cimap3 |
T |
A |
3: 105,908,810 (GRCm39) |
|
probably benign |
Het |
Cpb1 |
GTTT |
GTT |
3: 20,324,516 (GRCm39) |
|
probably null |
Het |
Crocc |
T |
C |
4: 140,761,763 (GRCm39) |
E873G |
probably damaging |
Het |
Dnah3 |
C |
T |
7: 119,528,002 (GRCm39) |
V3827I |
probably benign |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
E230001N04Rik |
T |
C |
17: 28,742,780 (GRCm39) |
|
noncoding transcript |
Het |
Kbtbd7 |
T |
C |
14: 79,664,602 (GRCm39) |
Y145H |
probably damaging |
Het |
Kcnh8 |
T |
A |
17: 53,184,995 (GRCm39) |
Y426N |
probably damaging |
Het |
Mipep |
A |
G |
14: 61,025,631 (GRCm39) |
D129G |
possibly damaging |
Het |
Muc15 |
C |
T |
2: 110,561,918 (GRCm39) |
P118L |
probably damaging |
Het |
Mug1 |
T |
C |
6: 121,815,576 (GRCm39) |
|
probably benign |
Het |
Nubp1 |
T |
A |
16: 10,239,108 (GRCm39) |
D208E |
probably damaging |
Het |
Or4a47 |
A |
T |
2: 89,666,157 (GRCm39) |
V44D |
probably damaging |
Het |
Or4k40 |
A |
T |
2: 111,251,192 (GRCm39) |
Y35N |
probably damaging |
Het |
Or4p4 |
A |
G |
2: 88,242,921 (GRCm39) |
L27P |
probably damaging |
Het |
Or52h9 |
T |
G |
7: 104,202,228 (GRCm39) |
I34S |
probably benign |
Het |
Or8g2 |
A |
G |
9: 39,821,906 (GRCm39) |
D269G |
probably benign |
Het |
Pdcd5 |
A |
C |
7: 35,342,110 (GRCm39) |
V166G |
probably damaging |
Het |
Pde4d |
T |
C |
13: 109,876,998 (GRCm39) |
L173P |
probably damaging |
Het |
Phldb2 |
T |
C |
16: 45,645,996 (GRCm39) |
Y195C |
probably damaging |
Het |
Pou4f1 |
T |
C |
14: 104,703,619 (GRCm39) |
E271G |
unknown |
Het |
Ppl |
T |
C |
16: 4,905,505 (GRCm39) |
I1597V |
probably benign |
Het |
Pramel17 |
G |
C |
4: 101,692,796 (GRCm39) |
N401K |
possibly damaging |
Het |
Sorl1 |
C |
A |
9: 41,902,638 (GRCm39) |
D1640Y |
probably damaging |
Het |
Taf4b |
T |
C |
18: 14,968,873 (GRCm39) |
L670P |
probably damaging |
Het |
Tox3 |
TCTGCTGCTGCTGCTGCTG |
TCTGCTGCTGCTGCTG |
8: 90,975,270 (GRCm39) |
|
probably benign |
Het |
Ttc39b |
A |
T |
4: 83,160,446 (GRCm39) |
I377K |
probably benign |
Het |
Ttll3 |
A |
G |
6: 113,389,901 (GRCm39) |
D762G |
probably benign |
Het |
Ubp1 |
T |
A |
9: 113,788,460 (GRCm39) |
I279K |
probably damaging |
Het |
Vmn2r93 |
T |
A |
17: 18,533,389 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
C |
T |
5: 102,090,985 (GRCm39) |
D532N |
probably benign |
Het |
Zfp644 |
A |
T |
5: 106,784,783 (GRCm39) |
L588Q |
possibly damaging |
Het |
|
Other mutations in Gpr89 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00421:Gpr89
|
APN |
3 |
96,805,839 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00757:Gpr89
|
APN |
3 |
96,778,850 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01114:Gpr89
|
APN |
3 |
96,800,865 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02417:Gpr89
|
APN |
3 |
96,804,741 (GRCm39) |
nonsense |
probably null |
|
explorer
|
UTSW |
3 |
96,787,385 (GRCm39) |
splice site |
probably null |
|
R0207:Gpr89
|
UTSW |
3 |
96,778,796 (GRCm39) |
missense |
probably damaging |
0.99 |
R0650:Gpr89
|
UTSW |
3 |
96,804,640 (GRCm39) |
splice site |
probably benign |
|
R0704:Gpr89
|
UTSW |
3 |
96,787,484 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1496:Gpr89
|
UTSW |
3 |
96,812,526 (GRCm39) |
missense |
probably benign |
0.00 |
R1869:Gpr89
|
UTSW |
3 |
96,782,975 (GRCm39) |
missense |
probably benign |
0.16 |
R1913:Gpr89
|
UTSW |
3 |
96,782,949 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2264:Gpr89
|
UTSW |
3 |
96,779,831 (GRCm39) |
missense |
probably damaging |
0.99 |
R2276:Gpr89
|
UTSW |
3 |
96,804,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R3822:Gpr89
|
UTSW |
3 |
96,800,260 (GRCm39) |
missense |
probably benign |
0.03 |
R3922:Gpr89
|
UTSW |
3 |
96,798,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R5761:Gpr89
|
UTSW |
3 |
96,800,196 (GRCm39) |
missense |
probably damaging |
1.00 |
R6185:Gpr89
|
UTSW |
3 |
96,798,149 (GRCm39) |
missense |
probably damaging |
0.99 |
R7063:Gpr89
|
UTSW |
3 |
96,783,014 (GRCm39) |
missense |
probably damaging |
1.00 |
R7164:Gpr89
|
UTSW |
3 |
96,778,714 (GRCm39) |
missense |
probably benign |
0.04 |
R7172:Gpr89
|
UTSW |
3 |
96,787,385 (GRCm39) |
splice site |
probably null |
|
R7215:Gpr89
|
UTSW |
3 |
96,787,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R7536:Gpr89
|
UTSW |
3 |
96,798,209 (GRCm39) |
missense |
probably damaging |
0.96 |
R7708:Gpr89
|
UTSW |
3 |
96,787,941 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7849:Gpr89
|
UTSW |
3 |
96,778,806 (GRCm39) |
nonsense |
probably null |
|
R8273:Gpr89
|
UTSW |
3 |
96,812,505 (GRCm39) |
missense |
probably benign |
|
R9643:Gpr89
|
UTSW |
3 |
96,780,813 (GRCm39) |
missense |
probably damaging |
0.97 |
RF019:Gpr89
|
UTSW |
3 |
96,812,509 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAGCTCAGACTTGGACCTCG -3'
(R):5'- TCCAGGCAAACGGAGAATGC -3'
Sequencing Primer
(F):5'- GAGGCAAACGTGTCAGCACC -3'
(R):5'- AGAATGCGGCCGCTGATTG -3'
|
Posted On |
2016-05-10 |