Incidental Mutation 'R2303:Gnrhr'
| ID |
244489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gnrhr
|
| Ensembl Gene |
ENSMUSG00000029255 |
| Gene Name |
gonadotropin releasing hormone receptor |
| Synonyms |
|
| MMRRC Submission |
040302-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R2303 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
86328613-86345760 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 86345608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 26
(G26D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031172]
[ENSMUST00000094654]
[ENSMUST00000113372]
|
| AlphaFold |
Q01776 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031172
AA Change: G26D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000031172
Gene: ENSMUSG00000029255
AA Change: G26D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
63 |
322 |
2.8e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094654
AA Change: G26D
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000092238
Gene: ENSMUSG00000029255
AA Change: G26D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
62 |
261 |
6.7e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113372
AA Change: G26D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000108999
Gene: ENSMUSG00000029255
AA Change: G26D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
60 |
177 |
4.5e-20 |
PFAM |
|
| Meta Mutation Damage Score |
0.1573 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| Validation Efficiency |
100% (40/40) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930583I09Rik |
T |
G |
17: 65,141,561 (GRCm39) |
D14A |
unknown |
Het |
| Aars1 |
C |
A |
8: 111,779,134 (GRCm39) |
T756K |
possibly damaging |
Het |
| Abca9 |
A |
T |
11: 110,049,052 (GRCm39) |
M252K |
probably benign |
Het |
| Acan |
A |
G |
7: 78,749,705 (GRCm39) |
E1492G |
probably benign |
Het |
| Arid1a |
C |
A |
4: 133,414,562 (GRCm39) |
R1223L |
unknown |
Het |
| Ash1l |
T |
C |
3: 88,933,733 (GRCm39) |
L2003S |
probably damaging |
Het |
| Cct8 |
A |
T |
16: 87,287,220 (GRCm39) |
|
probably null |
Het |
| Dagla |
T |
C |
19: 10,229,467 (GRCm39) |
T598A |
probably damaging |
Het |
| Ercc3 |
A |
G |
18: 32,378,600 (GRCm39) |
I194V |
probably benign |
Het |
| Fbxo46 |
A |
G |
7: 18,870,541 (GRCm39) |
N387D |
possibly damaging |
Het |
| Fn1 |
C |
T |
1: 71,653,195 (GRCm39) |
|
probably null |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,579,977 (GRCm39) |
L1920Q |
probably damaging |
Het |
| Kank2 |
T |
A |
9: 21,681,061 (GRCm39) |
I823F |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Kdm1b |
TCATTGTCC |
TCATTGTCCATTGTCC |
13: 47,217,564 (GRCm39) |
|
probably null |
Het |
| Mfsd6 |
T |
A |
1: 52,715,672 (GRCm39) |
N535I |
probably damaging |
Het |
| Mgat5 |
T |
C |
1: 127,374,036 (GRCm39) |
Y479H |
probably benign |
Het |
| Ncoa7 |
G |
A |
10: 30,530,431 (GRCm39) |
T701I |
probably damaging |
Het |
| Or6c2 |
T |
C |
10: 129,362,918 (GRCm39) |
V274A |
probably benign |
Het |
| Pcdh18 |
T |
C |
3: 49,709,723 (GRCm39) |
R531G |
probably damaging |
Het |
| Pcdhb6 |
A |
G |
18: 37,469,284 (GRCm39) |
H51R |
probably damaging |
Het |
| Pdik1l |
G |
A |
4: 134,011,559 (GRCm39) |
Q95* |
probably null |
Het |
| Ppp4r3b |
A |
T |
11: 29,150,741 (GRCm39) |
H469L |
possibly damaging |
Het |
| Prnp |
A |
G |
2: 131,779,046 (GRCm39) |
T233A |
probably benign |
Het |
| Rcan1 |
T |
C |
16: 92,190,484 (GRCm39) |
T152A |
possibly damaging |
Het |
| Sema3g |
T |
C |
14: 30,944,572 (GRCm39) |
F329L |
probably damaging |
Het |
| Setd1a |
G |
A |
7: 127,398,327 (GRCm39) |
|
probably benign |
Het |
| Slc40a1 |
G |
A |
1: 45,950,044 (GRCm39) |
|
probably benign |
Het |
| Slco5a1 |
C |
T |
1: 12,949,486 (GRCm39) |
G635S |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 121,899,318 (GRCm39) |
C1589Y |
probably damaging |
Het |
| Stab1 |
T |
C |
14: 30,868,027 (GRCm39) |
T1616A |
probably damaging |
Het |
| Trappc11 |
A |
G |
8: 47,956,451 (GRCm39) |
Y842H |
probably damaging |
Het |
| Vwde |
T |
A |
6: 13,215,806 (GRCm39) |
|
probably benign |
Het |
| Zcchc8 |
A |
G |
5: 123,838,660 (GRCm39) |
L626P |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,462,120 (GRCm39) |
H1240R |
probably damaging |
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 |
|
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 |
|
|
R6629:Gnrhr
|
UTSW |
5 |
86,330,168 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- GTGGCATGACGATCAGAGTC -3'
(R):5'- TGTGACGTTTCCATCTAAAGGAGG -3'
Sequencing Primer
(F):5'- ATCAGAGTCTCCAGCAGGTTG -3'
(R):5'- GTTTCCATCTAAAGGAGGCAGACATC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation