Incidental Mutation 'R6629:Gnrhr'
| ID |
524974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gnrhr
|
| Ensembl Gene |
ENSMUSG00000029255 |
| Gene Name |
gonadotropin releasing hormone receptor |
| Synonyms |
|
| MMRRC Submission |
044751-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R6629 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
86328613-86345760 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86330168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 284
(V284A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031172]
[ENSMUST00000094654]
[ENSMUST00000113372]
|
| AlphaFold |
Q01776 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031172
AA Change: V284A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000031172
Gene: ENSMUSG00000029255
AA Change: V284A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
63 |
322 |
2.8e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094654
|
| SMART Domains |
Protein: ENSMUSP00000092238
Gene: ENSMUSG00000029255
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
62 |
261 |
6.7e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113372
|
| SMART Domains |
Protein: ENSMUSP00000108999
Gene: ENSMUSG00000029255
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
60 |
177 |
4.5e-20 |
PFAM |
|
| Meta Mutation Damage Score |
0.1235 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
97% (38/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice display prepubescent internal reproductive tracts with hypogonadism and hypogonadotrophy. [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 |
|---|
| Atxn3 |
A |
T |
12: 101,903,665 (GRCm39) |
M180K |
probably benign |
Het |
| Bnip2 |
G |
T |
9: 69,909,393 (GRCm39) |
R236L |
probably null |
Het |
| Boc |
T |
C |
16: 44,312,724 (GRCm39) |
D582G |
probably benign |
Het |
| Cacul1 |
T |
C |
19: 60,568,805 (GRCm39) |
S118G |
probably benign |
Het |
| Ccdc192 |
T |
C |
18: 57,863,852 (GRCm39) |
S219P |
possibly damaging |
Het |
| Cpa2 |
A |
T |
6: 30,554,193 (GRCm39) |
D271V |
probably damaging |
Het |
| Cubn |
G |
A |
2: 13,435,683 (GRCm39) |
T1091M |
probably damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,881,465 (GRCm39) |
T846A |
probably benign |
Het |
| Eif5 |
G |
T |
12: 111,510,042 (GRCm39) |
A329S |
probably damaging |
Het |
| Fam136b-ps |
G |
A |
15: 31,276,962 (GRCm39) |
|
probably benign |
Het |
| Grin3a |
A |
G |
4: 49,844,991 (GRCm39) |
S31P |
probably damaging |
Het |
| Hectd2 |
T |
C |
19: 36,592,938 (GRCm39) |
L701P |
probably damaging |
Het |
| Hook1 |
C |
T |
4: 95,889,507 (GRCm39) |
T241I |
probably benign |
Het |
| Kif5a |
A |
G |
10: 127,084,123 (GRCm39) |
V52A |
probably damaging |
Het |
| Lasp1 |
T |
A |
11: 97,697,722 (GRCm39) |
Y11* |
probably null |
Het |
| Meltf |
A |
G |
16: 31,703,894 (GRCm39) |
Y207C |
probably damaging |
Het |
| Mllt3 |
ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT |
ACTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT |
4: 87,759,504 (GRCm39) |
|
probably benign |
Het |
| Nek1 |
A |
G |
8: 61,507,367 (GRCm39) |
|
probably null |
Het |
| Notch2 |
C |
A |
3: 98,028,197 (GRCm39) |
N969K |
possibly damaging |
Het |
| Or4c116 |
T |
A |
2: 88,942,506 (GRCm39) |
M117L |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,617,851 (GRCm39) |
G135R |
probably benign |
Het |
| Pla2g4f |
A |
T |
2: 120,138,723 (GRCm39) |
L242Q |
probably damaging |
Het |
| Plcxd2 |
T |
G |
16: 45,785,470 (GRCm39) |
T312P |
probably damaging |
Het |
| Prpf4 |
G |
A |
4: 62,336,097 (GRCm39) |
V275I |
possibly damaging |
Het |
| Prpf8 |
G |
A |
11: 75,386,252 (GRCm39) |
|
probably null |
Het |
| Pxn |
T |
C |
5: 115,692,121 (GRCm39) |
L401P |
probably damaging |
Het |
| Rab44 |
A |
T |
17: 29,354,754 (GRCm39) |
|
probably benign |
Het |
| Rfx6 |
C |
A |
10: 51,601,586 (GRCm39) |
T669K |
probably benign |
Het |
| Rgs16 |
A |
G |
1: 153,619,420 (GRCm39) |
N142S |
probably damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,106,146 (GRCm39) |
E237G |
possibly damaging |
Het |
| Rsbn1 |
A |
C |
3: 103,835,757 (GRCm39) |
D265A |
probably damaging |
Het |
| Rufy4 |
A |
G |
1: 74,171,526 (GRCm39) |
|
probably null |
Het |
| Slc4a1 |
C |
A |
11: 102,252,048 (GRCm39) |
E19* |
probably null |
Het |
| Tctn1 |
A |
G |
5: 122,380,731 (GRCm39) |
S526P |
probably damaging |
Het |
| Tspear |
A |
T |
10: 77,706,343 (GRCm39) |
H371L |
probably benign |
Het |
| Vmn1r34 |
A |
T |
6: 66,614,499 (GRCm39) |
F80I |
probably benign |
Het |
| Wdr75 |
G |
A |
1: 45,851,216 (GRCm39) |
S264N |
probably damaging |
Het |
| Zfp652 |
A |
T |
11: 95,654,616 (GRCm39) |
N340Y |
probably damaging |
Het |
| Zp3 |
A |
G |
5: 136,016,190 (GRCm39) |
T306A |
probably benign |
Het |
|
| Other mutations in Gnrhr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00980:Gnrhr
|
APN |
5 |
86,345,162 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01432:Gnrhr
|
APN |
5 |
86,330,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02702:Gnrhr
|
APN |
5 |
86,330,128 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03367:Gnrhr
|
APN |
5 |
86,330,190 (GRCm39) |
missense |
probably benign |
0.02 |
|
G1patch:Gnrhr
|
UTSW |
5 |
86,333,172 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0483:Gnrhr
|
UTSW |
5 |
86,345,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1873:Gnrhr
|
UTSW |
5 |
86,330,060 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2199:Gnrhr
|
UTSW |
5 |
86,345,677 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2303:Gnrhr
|
UTSW |
5 |
86,345,608 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4400:Gnrhr
|
UTSW |
5 |
86,330,108 (GRCm39) |
splice site |
probably null |
|
|
R5273:Gnrhr
|
UTSW |
5 |
86,330,105 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5320:Gnrhr
|
UTSW |
5 |
86,345,473 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6159:Gnrhr
|
UTSW |
5 |
86,330,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6221:Gnrhr
|
UTSW |
5 |
86,333,262 (GRCm39) |
nonsense |
probably null |
|
|
R6725:Gnrhr
|
UTSW |
5 |
86,333,172 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9251:Gnrhr
|
UTSW |
5 |
86,345,221 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
X0018:Gnrhr
|
UTSW |
5 |
86,345,614 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTGCCTTGTATATAAGTGTGTC -3'
(R):5'- CAGCTTTATTACATAGCCCAGGC -3'
Sequencing Primer
(F):5'- GCCTTGTATATAAGTGTGTCAAAAGC -3'
(R):5'- GCTAAAGATGACAGTCGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation