Incidental Mutation 'R3764:Ghrhr'
| ID |
271809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ghrhr
|
| Ensembl Gene |
ENSMUSG00000004654 |
| Gene Name |
growth hormone releasing hormone receptor |
| Synonyms |
Ghrfr |
| MMRRC Submission |
040741-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3764 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
55353280-55365515 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55357756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 129
(V129A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063578]
[ENSMUST00000203241]
|
| AlphaFold |
P32082 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063578
AA Change: V129A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000068120
Gene: ENSMUSG00000004654
AA Change: V129A
| Domain | Start | End | E-Value | Type |
|---|
|
HormR
|
51 |
121 |
1.3e-26 |
SMART |
|
Pfam:7tm_2
|
126 |
372 |
7.2e-76 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203241
AA Change: V129A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145224
Gene: ENSMUSG00000004654
AA Change: V129A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
HormR
|
51 |
121 |
8.4e-29 |
SMART |
|
Pfam:7tm_2
|
126 |
374 |
8.7e-59 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204988
|
| Meta Mutation Damage Score |
0.2520 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.3%
|
| Validation Efficiency |
100% (29/29) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygotes for a spontaneous null mutation exhibit reduced growth from 2 weeks of age, impaired growth hormone synthesis and release, obesity, decreased bone mass, reduced fertility in males, impaired first lactations, and extended life span. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
G |
A |
17: 14,066,851 (GRCm39) |
A648T |
probably benign |
Het |
| Cadm3 |
C |
T |
1: 173,174,064 (GRCm39) |
V50I |
probably damaging |
Het |
| Catspere2 |
A |
T |
1: 177,940,698 (GRCm39) |
T687S |
unknown |
Het |
| Cubn |
T |
A |
2: 13,336,396 (GRCm39) |
I2477F |
possibly damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
| Eif4e3 |
C |
T |
6: 99,617,586 (GRCm39) |
R95Q |
probably damaging |
Het |
| Fmo5 |
T |
C |
3: 97,553,033 (GRCm39) |
I327T |
probably damaging |
Het |
| Gckr |
T |
A |
5: 31,483,842 (GRCm39) |
|
probably benign |
Het |
| Gsdma |
A |
T |
11: 98,561,593 (GRCm39) |
N191I |
probably damaging |
Het |
| Hadha |
T |
C |
5: 30,349,207 (GRCm39) |
K135E |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,326,680 (GRCm39) |
E1797G |
probably damaging |
Het |
| Ly9 |
T |
C |
1: 171,421,712 (GRCm39) |
Y513C |
possibly damaging |
Het |
| Nphp4 |
C |
T |
4: 152,622,474 (GRCm39) |
|
probably benign |
Het |
| Pate8 |
A |
T |
9: 36,493,114 (GRCm39) |
|
probably null |
Het |
| Pcm1 |
A |
G |
8: 41,783,919 (GRCm39) |
E2005G |
probably damaging |
Het |
| Spsb2 |
T |
C |
6: 124,786,518 (GRCm39) |
Y84H |
probably damaging |
Het |
| Tlcd3b |
T |
C |
7: 126,426,685 (GRCm39) |
I36T |
probably damaging |
Het |
| Try10 |
C |
T |
6: 41,333,458 (GRCm39) |
R68C |
probably benign |
Het |
| Tut7 |
T |
A |
13: 59,948,194 (GRCm39) |
E307V |
probably damaging |
Het |
| Ube3c |
ACTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
ACTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 29,842,584 (GRCm39) |
|
probably benign |
Het |
| Vps50 |
A |
T |
6: 3,588,063 (GRCm39) |
I679F |
probably damaging |
Het |
| Wdr81 |
G |
A |
11: 75,343,629 (GRCm39) |
T546I |
probably damaging |
Het |
| Zfp40 |
T |
A |
17: 23,396,101 (GRCm39) |
H94L |
possibly damaging |
Het |
|
| Other mutations in Ghrhr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00650:Ghrhr
|
APN |
6 |
55,356,110 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01088:Ghrhr
|
APN |
6 |
55,356,178 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01567:Ghrhr
|
APN |
6 |
55,361,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02351:Ghrhr
|
APN |
6 |
55,361,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02358:Ghrhr
|
APN |
6 |
55,361,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02588:Ghrhr
|
APN |
6 |
55,360,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03010:Ghrhr
|
APN |
6 |
55,361,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0068:Ghrhr
|
UTSW |
6 |
55,357,849 (GRCm39) |
splice site |
probably benign |
|
|
R0068:Ghrhr
|
UTSW |
6 |
55,357,849 (GRCm39) |
splice site |
probably benign |
|
|
R0234:Ghrhr
|
UTSW |
6 |
55,356,171 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0234:Ghrhr
|
UTSW |
6 |
55,356,171 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1173:Ghrhr
|
UTSW |
6 |
55,365,254 (GRCm39) |
nonsense |
probably null |
|
|
R1174:Ghrhr
|
UTSW |
6 |
55,365,254 (GRCm39) |
nonsense |
probably null |
|
|
R1175:Ghrhr
|
UTSW |
6 |
55,365,254 (GRCm39) |
nonsense |
probably null |
|
|
R1613:Ghrhr
|
UTSW |
6 |
55,356,682 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2196:Ghrhr
|
UTSW |
6 |
55,356,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2232:Ghrhr
|
UTSW |
6 |
55,362,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Ghrhr
|
UTSW |
6 |
55,358,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4837:Ghrhr
|
UTSW |
6 |
55,365,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5422:Ghrhr
|
UTSW |
6 |
55,365,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6199:Ghrhr
|
UTSW |
6 |
55,356,173 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6915:Ghrhr
|
UTSW |
6 |
55,360,104 (GRCm39) |
splice site |
probably null |
|
|
R7632:Ghrhr
|
UTSW |
6 |
55,361,727 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7966:Ghrhr
|
UTSW |
6 |
55,356,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8874:Ghrhr
|
UTSW |
6 |
55,355,891 (GRCm39) |
missense |
probably benign |
|
|
R9594:Ghrhr
|
UTSW |
6 |
55,362,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9608:Ghrhr
|
UTSW |
6 |
55,357,786 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGTCAATAATCAGGCCCAAC -3'
(R):5'- CTCTTGACTATGCAGGCCAAG -3'
Sequencing Primer
(F):5'- TCTCCAGAGCCAGGTAGCTTC -3'
(R):5'- TGACTATGCAGGCCAAGAACCAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation