Incidental Mutation 'R5667:Gpr45'
| ID |
444457 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr45
|
| Ensembl Gene |
ENSMUSG00000041907 |
| Gene Name |
G protein-coupled receptor 45 |
| Synonyms |
9230112G11Rik, PSP24alpha |
| MMRRC Submission |
043310-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R5667 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
42992032-43074611 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43072218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 287
(Y287C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114761]
[ENSMUST00000179766]
|
| AlphaFold |
Q9EQQ4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114761
AA Change: Y287C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110409
Gene: ENSMUSG00000041907
AA Change: Y287C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
42 |
188 |
5.5e-9 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
45 |
340 |
1.9e-7 |
PFAM |
|
Pfam:7tm_1
|
51 |
325 |
2.4e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158463
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179655
|
| SMART Domains |
Protein: ENSMUSP00000136725
Gene: ENSMUSG00000096364
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
90 |
102 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179766
AA Change: Y287C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135986
Gene: ENSMUSG00000041907
AA Change: Y287C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
42 |
189 |
7.1e-9 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
45 |
340 |
1.9e-7 |
PFAM |
|
Pfam:7tm_1
|
51 |
325 |
2.1e-51 |
PFAM |
|
| Meta Mutation Damage Score |
0.7587 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
96% (54/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a member of the G protein-coupled receptor (GPCR) family. Members of this protein family contain seven putative transmembrane domains and may mediate signaling processes to the interior of the cell via activation of heterotrimeric G proteins. This protein may function in the central nervous system. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| Adamts16 |
A |
T |
13: 70,984,494 (GRCm39) |
Y56* |
probably null |
Het |
| Ak2 |
T |
A |
4: 128,902,040 (GRCm39) |
F238I |
probably damaging |
Het |
| Akap8l |
T |
C |
17: 32,557,266 (GRCm39) |
Y115C |
probably damaging |
Het |
| Alms1 |
A |
G |
6: 85,673,753 (GRCm39) |
D3116G |
probably damaging |
Het |
| Arhgap24 |
T |
G |
5: 102,994,037 (GRCm39) |
|
probably null |
Het |
| Arhgap45 |
A |
G |
10: 79,861,310 (GRCm39) |
E491G |
probably damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,714,994 (GRCm39) |
C86Y |
probably damaging |
Het |
| Atxn1 |
T |
C |
13: 45,710,853 (GRCm39) |
K693R |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 36,971,826 (GRCm39) |
T520S |
probably benign |
Het |
| Btbd10 |
T |
C |
7: 112,931,931 (GRCm39) |
K165R |
probably damaging |
Het |
| Capn11 |
C |
T |
17: 45,950,600 (GRCm39) |
R293Q |
possibly damaging |
Het |
| Chordc1 |
T |
G |
9: 18,206,628 (GRCm39) |
F33V |
probably damaging |
Het |
| Clca4b |
G |
A |
3: 144,627,624 (GRCm39) |
T449I |
probably benign |
Het |
| Clip4 |
A |
C |
17: 72,096,878 (GRCm39) |
M1L |
probably damaging |
Het |
| Cyfip1 |
C |
T |
7: 55,523,478 (GRCm39) |
T90I |
probably benign |
Het |
| Cyp4v3 |
G |
T |
8: 45,761,572 (GRCm39) |
T417K |
possibly damaging |
Het |
| Exoc3l4 |
T |
C |
12: 111,389,851 (GRCm39) |
I142T |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,890,843 (GRCm38) |
I575N |
probably benign |
Het |
| Foxa1 |
A |
T |
12: 57,589,081 (GRCm39) |
S380T |
probably benign |
Het |
| Foxi2 |
A |
T |
7: 135,012,668 (GRCm39) |
|
probably null |
Het |
| Gad1-ps |
A |
T |
10: 99,280,395 (GRCm39) |
|
noncoding transcript |
Het |
| Gpa33 |
A |
G |
1: 165,974,360 (GRCm39) |
T66A |
possibly damaging |
Het |
| H2-Eb1 |
C |
A |
17: 34,533,229 (GRCm39) |
Y150* |
probably null |
Het |
| Hsd17b8 |
T |
C |
17: 34,245,435 (GRCm39) |
D233G |
probably null |
Het |
| Ifna6 |
A |
T |
4: 88,745,906 (GRCm39) |
Q85L |
probably damaging |
Het |
| Ivns1abp |
G |
T |
1: 151,229,760 (GRCm39) |
L149F |
probably benign |
Het |
| Kank4 |
A |
G |
4: 98,653,698 (GRCm39) |
|
probably null |
Het |
| Katnip |
T |
A |
7: 125,442,627 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
T |
10: 27,066,540 (GRCm39) |
C1114S |
probably damaging |
Het |
| Lmbr1l |
A |
C |
15: 98,805,489 (GRCm39) |
D337E |
possibly damaging |
Het |
| Lrrn3 |
A |
C |
12: 41,502,297 (GRCm39) |
S673R |
possibly damaging |
Het |
| Ly75 |
T |
C |
2: 60,138,655 (GRCm39) |
D1404G |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,575,011 (GRCm39) |
T1199A |
probably benign |
Het |
| Mycn |
A |
T |
12: 12,990,045 (GRCm39) |
M117K |
possibly damaging |
Het |
| Nalcn |
A |
G |
14: 123,532,818 (GRCm39) |
I1314T |
probably damaging |
Het |
| Nod1 |
T |
C |
6: 54,910,561 (GRCm39) |
T869A |
probably benign |
Het |
| Or2y16 |
T |
C |
11: 49,335,140 (GRCm39) |
V154A |
probably benign |
Het |
| Or4k39 |
C |
T |
2: 111,238,818 (GRCm39) |
|
noncoding transcript |
Het |
| Plekhg2 |
A |
T |
7: 28,067,064 (GRCm39) |
I356N |
probably damaging |
Het |
| Ptpru |
T |
A |
4: 131,547,501 (GRCm39) |
Y112F |
possibly damaging |
Het |
| Rpl36al |
G |
A |
12: 69,229,897 (GRCm39) |
P5L |
possibly damaging |
Het |
| Ryr2 |
A |
G |
13: 11,774,722 (GRCm39) |
W1145R |
probably damaging |
Het |
| Semp2l2b |
T |
A |
10: 21,942,742 (GRCm39) |
T413S |
possibly damaging |
Het |
| Slc11a2 |
A |
G |
15: 100,301,169 (GRCm39) |
Y295H |
probably damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,599,148 (GRCm39) |
|
probably null |
Het |
| Styxl1 |
A |
G |
5: 135,785,977 (GRCm39) |
|
probably null |
Het |
| Tmc6 |
A |
G |
11: 117,666,441 (GRCm39) |
S288P |
possibly damaging |
Het |
| Trpv4 |
A |
G |
5: 114,772,617 (GRCm39) |
L371P |
probably damaging |
Het |
| Uqcc4 |
G |
A |
17: 25,403,963 (GRCm39) |
S101N |
probably damaging |
Het |
| Usp8 |
A |
G |
2: 126,584,345 (GRCm39) |
D518G |
probably benign |
Het |
| Washc4 |
T |
C |
10: 83,405,892 (GRCm39) |
S463P |
probably damaging |
Het |
|
| Other mutations in Gpr45 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00508:Gpr45
|
APN |
1 |
43,071,452 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01528:Gpr45
|
APN |
1 |
43,072,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01833:Gpr45
|
APN |
1 |
43,071,402 (GRCm39) |
missense |
probably benign |
|
|
IGL02034:Gpr45
|
APN |
1 |
43,072,478 (GRCm39) |
makesense |
probably null |
|
|
IGL02230:Gpr45
|
APN |
1 |
43,071,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02279:Gpr45
|
APN |
1 |
43,071,998 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02394:Gpr45
|
APN |
1 |
43,069,272 (GRCm39) |
intron |
probably benign |
|
|
IGL02795:Gpr45
|
APN |
1 |
43,071,653 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02902:Gpr45
|
APN |
1 |
43,072,371 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL03017:Gpr45
|
APN |
1 |
43,071,516 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
expansive
|
UTSW |
1 |
43,071,998 (GRCm39) |
missense |
probably damaging |
0.96 |
|
extensive
|
UTSW |
1 |
43,072,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
omnipresent
|
UTSW |
1 |
43,071,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0368:Gpr45
|
UTSW |
1 |
43,072,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2964:Gpr45
|
UTSW |
1 |
43,071,668 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2965:Gpr45
|
UTSW |
1 |
43,071,668 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2966:Gpr45
|
UTSW |
1 |
43,071,668 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4551:Gpr45
|
UTSW |
1 |
43,071,950 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4681:Gpr45
|
UTSW |
1 |
43,072,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4821:Gpr45
|
UTSW |
1 |
43,069,613 (GRCm39) |
intron |
probably benign |
|
|
R4966:Gpr45
|
UTSW |
1 |
43,072,280 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5054:Gpr45
|
UTSW |
1 |
43,071,809 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5319:Gpr45
|
UTSW |
1 |
43,071,998 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5671:Gpr45
|
UTSW |
1 |
43,072,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Gpr45
|
UTSW |
1 |
43,071,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8117:Gpr45
|
UTSW |
1 |
43,072,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8393:Gpr45
|
UTSW |
1 |
43,071,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8752:Gpr45
|
UTSW |
1 |
43,071,842 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8927:Gpr45
|
UTSW |
1 |
43,072,314 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8928:Gpr45
|
UTSW |
1 |
43,072,314 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9316:Gpr45
|
UTSW |
1 |
43,071,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAATACGGTGCGGAAGAAC -3'
(R):5'- ATCCGCTCAGGCACTTTAGG -3'
Sequencing Primer
(F):5'- TGTCCGTGTGCACAACCAG -3'
(R):5'- CTCAGGCACTTTAGGGAGGATTTG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation