Incidental Mutation 'R5048:Gprc5c'
| ID |
394479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gprc5c
|
| Ensembl Gene |
ENSMUSG00000051043 |
| Gene Name |
G protein-coupled receptor, family C, group 5, member C |
| Synonyms |
3200002M13Rik, 1110028I06Rik |
| MMRRC Submission |
042638-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R5048 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
114741978-114763443 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 114761177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Glutamine
at position 442
(*442Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021071]
[ENSMUST00000053361]
[ENSMUST00000122967]
[ENSMUST00000152314]
[ENSMUST00000177952]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021071
|
| SMART Domains |
Protein: ENSMUSP00000021071
Gene: ENSMUSG00000051043
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:7tm_3
|
58 |
302 |
1.3e-42 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000053361
AA Change: *442Q
|
| SMART Domains |
Protein: ENSMUSP00000061760
Gene: ENSMUSG00000051043
AA Change: *442Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:7tm_3
|
60 |
301 |
1.3e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122967
|
| SMART Domains |
Protein: ENSMUSP00000114335
Gene: ENSMUSG00000051043
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
transmembrane domain
|
55 |
77 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152314
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177952
|
| SMART Domains |
Protein: ENSMUSP00000136702
Gene: ENSMUSG00000051043
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:7tm_3
|
58 |
302 |
1.3e-42 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.1%
|
| Validation Efficiency |
98% (64/65) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter allele are behaviorally normal but exhibit reticulocytosis, increased mean corpuscular volume, increased percentage of basophils, decreased mean corpuscular hemogloblin concentration, and increased alkaline phophatase and lactic dehydrogenase levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,138,850 (GRCm39) |
I144V |
probably benign |
Het |
| Abhd5 |
T |
C |
9: 122,206,968 (GRCm39) |
Y85H |
probably damaging |
Het |
| Acadsb |
G |
A |
7: 131,039,198 (GRCm39) |
G323D |
probably damaging |
Het |
| Amotl2 |
A |
G |
9: 102,600,997 (GRCm39) |
R322G |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,098,641 (GRCm39) |
|
probably benign |
Het |
| Aste1 |
C |
T |
9: 105,274,188 (GRCm39) |
R82W |
probably damaging |
Het |
| Atg4b |
T |
C |
1: 93,703,380 (GRCm39) |
I139T |
possibly damaging |
Het |
| Btnl5-ps |
T |
A |
17: 34,707,697 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc85c |
A |
G |
12: 108,187,966 (GRCm39) |
|
probably null |
Het |
| Clasp1 |
A |
G |
1: 118,475,340 (GRCm39) |
|
probably benign |
Het |
| Defb10 |
G |
A |
8: 22,351,887 (GRCm39) |
C44Y |
probably damaging |
Het |
| Dhrs9 |
T |
C |
2: 69,224,744 (GRCm39) |
V144A |
probably damaging |
Het |
| Dnhd1 |
G |
C |
7: 105,342,904 (GRCm39) |
S1416T |
probably benign |
Het |
| Dok1 |
T |
A |
6: 83,009,087 (GRCm39) |
|
probably benign |
Het |
| Emilin2 |
G |
A |
17: 71,580,962 (GRCm39) |
T588M |
probably damaging |
Het |
| Fam181b |
A |
G |
7: 92,729,147 (GRCm39) |
|
probably benign |
Het |
| Fhad1 |
T |
C |
4: 141,691,987 (GRCm39) |
|
probably null |
Het |
| Foxi2 |
A |
G |
7: 135,013,364 (GRCm39) |
E198G |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,823,494 (GRCm39) |
A6409E |
probably damaging |
Het |
| Gje1 |
T |
C |
10: 14,593,021 (GRCm39) |
Y65C |
probably damaging |
Het |
| Gm6401 |
T |
C |
14: 41,789,724 (GRCm39) |
|
probably null |
Het |
| Iars1 |
T |
A |
13: 49,841,713 (GRCm39) |
I67N |
probably damaging |
Het |
| Igkv4-79 |
T |
C |
6: 69,019,971 (GRCm39) |
S115G |
probably benign |
Het |
| Itga4 |
C |
A |
2: 79,103,378 (GRCm39) |
S156R |
probably benign |
Het |
| Lilra6 |
C |
T |
7: 3,918,440 (GRCm39) |
|
probably null |
Het |
| Majin |
C |
A |
19: 6,272,684 (GRCm39) |
A208E |
probably benign |
Het |
| Megf8 |
A |
G |
7: 25,030,517 (GRCm39) |
Q490R |
possibly damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mgarp |
G |
A |
3: 51,298,707 (GRCm39) |
R88C |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 87,980,196 (GRCm39) |
F58S |
probably damaging |
Het |
| Nemp1 |
T |
C |
10: 127,526,804 (GRCm39) |
|
probably null |
Het |
| Nlrp10 |
A |
T |
7: 108,523,772 (GRCm39) |
N569K |
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,237,388 (GRCm39) |
|
probably null |
Het |
| Or4c106 |
T |
C |
2: 88,682,807 (GRCm39) |
V171A |
possibly damaging |
Het |
| Or5w16 |
C |
A |
2: 87,576,663 (GRCm39) |
A41E |
probably benign |
Het |
| Pdcd11 |
C |
A |
19: 47,095,554 (GRCm39) |
S625R |
probably benign |
Het |
| Pigb |
T |
A |
9: 72,936,990 (GRCm39) |
|
probably null |
Het |
| Pitpnb |
T |
C |
5: 111,530,869 (GRCm39) |
F221L |
possibly damaging |
Het |
| Prox2 |
A |
T |
12: 85,141,115 (GRCm39) |
W363R |
probably damaging |
Het |
| Psmg1 |
T |
A |
16: 95,785,171 (GRCm39) |
R139S |
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,286,554 (GRCm39) |
|
probably null |
Het |
| Samd9l |
G |
A |
6: 3,374,157 (GRCm39) |
R1035C |
probably benign |
Het |
| Shkbp1 |
G |
A |
7: 27,051,521 (GRCm39) |
|
probably benign |
Het |
| Slc30a5 |
C |
A |
13: 100,943,249 (GRCm39) |
L536F |
probably damaging |
Het |
| Slc6a17 |
A |
T |
3: 107,378,753 (GRCm39) |
L643* |
probably null |
Het |
| Slit3 |
T |
C |
11: 35,479,812 (GRCm39) |
Y330H |
probably damaging |
Het |
| St13 |
G |
C |
15: 81,283,786 (GRCm39) |
R4G |
probably benign |
Het |
| Stoml3 |
A |
C |
3: 53,408,213 (GRCm39) |
K86N |
possibly damaging |
Het |
| Tmtc1 |
A |
T |
6: 148,139,344 (GRCm39) |
L926Q |
possibly damaging |
Het |
| Tns4 |
T |
G |
11: 98,969,605 (GRCm39) |
R285S |
possibly damaging |
Het |
| Uncx |
C |
T |
5: 139,532,874 (GRCm39) |
T313M |
probably benign |
Het |
| Vmn2r75 |
G |
A |
7: 85,814,735 (GRCm39) |
R253C |
possibly damaging |
Het |
| Zbed6 |
T |
C |
1: 133,586,462 (GRCm39) |
S292G |
probably damaging |
Het |
| Zfp143 |
A |
G |
7: 109,673,325 (GRCm39) |
T142A |
probably damaging |
Het |
| Zfp287 |
T |
C |
11: 62,605,777 (GRCm39) |
K366E |
probably damaging |
Het |
|
| Other mutations in Gprc5c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01599:Gprc5c
|
APN |
11 |
114,755,078 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01762:Gprc5c
|
APN |
11 |
114,754,850 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02039:Gprc5c
|
APN |
11 |
114,755,312 (GRCm39) |
nonsense |
probably null |
|
|
R0800:Gprc5c
|
UTSW |
11 |
114,757,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1618:Gprc5c
|
UTSW |
11 |
114,755,220 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4198:Gprc5c
|
UTSW |
11 |
114,754,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4807:Gprc5c
|
UTSW |
11 |
114,755,324 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4846:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4902:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4904:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5016:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5106:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5109:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5173:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5266:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5267:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5475:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5508:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5557:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5562:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5563:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5598:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5599:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5729:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5756:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5792:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5793:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5794:Gprc5c
|
UTSW |
11 |
114,755,093 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5817:Gprc5c
|
UTSW |
11 |
114,754,450 (GRCm39) |
nonsense |
probably null |
|
|
R5976:Gprc5c
|
UTSW |
11 |
114,755,313 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6151:Gprc5c
|
UTSW |
11 |
114,754,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6617:Gprc5c
|
UTSW |
11 |
114,754,931 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7108:Gprc5c
|
UTSW |
11 |
114,755,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7191:Gprc5c
|
UTSW |
11 |
114,759,443 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7796:Gprc5c
|
UTSW |
11 |
114,755,358 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8543:Gprc5c
|
UTSW |
11 |
114,755,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGACTTCTCCAAACGTC -3'
(R):5'- TGCAGTTTCTTGGATACCAGG -3'
Sequencing Primer
(F):5'- CGTCTATATTTAGATGGCATTGCTC -3'
(R):5'- ATGAGCACCAGTCACATATTTCAGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation