Incidental Mutation 'R5758:Lhcgr'
| ID |
445162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lhcgr
|
| Ensembl Gene |
ENSMUSG00000024107 |
| Gene Name |
luteinizing hormone/choriogonadotropin receptor |
| Synonyms |
LH-R, Lhr, Gpcr19-rs1 |
| MMRRC Submission |
043203-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5758 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
89023909-89099418 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89049976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 517
(I517V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024916
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024916]
|
| AlphaFold |
P30730 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024916
AA Change: I517V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000024916
Gene: ENSMUSG00000024107
AA Change: I517V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
LRRNT
|
33 |
66 |
4.4e0 |
SMART |
|
Pfam:LRR_5
|
155 |
273 |
2.9e-5 |
PFAM |
|
Pfam:7tm_1
|
380 |
627 |
1.2e-29 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are infertile and have abnormal hormone levels. Males have undescended testes, immature external and accessory sex organs and blocked spermatogenesis. Females have small ovaries and uteri, immature follicles and do not cycle. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,264,536 (GRCm39) |
N2973D |
probably damaging |
Het |
| Acan |
A |
T |
7: 78,750,962 (GRCm39) |
E1911V |
possibly damaging |
Het |
| Adamts20 |
T |
C |
15: 94,292,531 (GRCm39) |
N193S |
probably benign |
Het |
| Arhgap28 |
T |
C |
17: 68,180,154 (GRCm39) |
D81G |
probably benign |
Het |
| Calhm3 |
A |
G |
19: 47,140,190 (GRCm39) |
V301A |
probably damaging |
Het |
| Celsr1 |
C |
T |
15: 85,825,465 (GRCm39) |
G1556D |
probably benign |
Het |
| Cfap221 |
A |
G |
1: 119,862,288 (GRCm39) |
L598P |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,638,717 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
T |
A |
9: 54,380,248 (GRCm39) |
I142F |
probably benign |
Het |
| Dpy19l4 |
C |
T |
4: 11,276,886 (GRCm39) |
V338M |
probably damaging |
Het |
| Dpys |
A |
C |
15: 39,690,395 (GRCm39) |
D319E |
possibly damaging |
Het |
| Dsc3 |
A |
G |
18: 20,122,591 (GRCm39) |
V111A |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,888,442 (GRCm39) |
V14A |
probably benign |
Het |
| Hebp2 |
C |
A |
10: 18,420,155 (GRCm39) |
V93L |
probably damaging |
Het |
| Igkv8-21 |
A |
T |
6: 70,292,009 (GRCm39) |
S78T |
possibly damaging |
Het |
| Jak2 |
T |
A |
19: 29,287,043 (GRCm39) |
D1036E |
probably damaging |
Het |
| Kazn |
A |
G |
4: 141,868,982 (GRCm39) |
|
probably null |
Het |
| Kif9 |
T |
C |
9: 110,318,947 (GRCm39) |
V143A |
probably damaging |
Het |
| Llgl1 |
T |
C |
11: 60,599,393 (GRCm39) |
F458S |
probably damaging |
Het |
| Mrgprb3 |
C |
A |
7: 48,293,067 (GRCm39) |
M161I |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,412,720 (GRCm39) |
I1889F |
unknown |
Het |
| Mysm1 |
A |
G |
4: 94,840,598 (GRCm39) |
V606A |
probably damaging |
Het |
| Nipal3 |
T |
C |
4: 135,179,874 (GRCm39) |
D348G |
probably benign |
Het |
| Olfml2b |
G |
A |
1: 170,496,833 (GRCm39) |
|
probably null |
Het |
| Or5p5 |
T |
C |
7: 107,414,022 (GRCm39) |
V77A |
probably damaging |
Het |
| Or5p72 |
T |
A |
7: 108,022,369 (GRCm39) |
V197D |
probably benign |
Het |
| Orc5 |
T |
C |
5: 22,734,256 (GRCm39) |
D176G |
possibly damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,559,470 (GRCm39) |
N1041S |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,672,320 (GRCm39) |
R1384C |
probably damaging |
Het |
| Sar1a |
A |
G |
10: 61,520,851 (GRCm39) |
Y22C |
probably benign |
Het |
| Shcbp1 |
T |
C |
8: 4,799,355 (GRCm39) |
|
probably null |
Het |
| Smim17 |
C |
T |
7: 6,427,788 (GRCm39) |
H25Y |
possibly damaging |
Het |
| Tcstv7a |
T |
C |
13: 120,289,791 (GRCm39) |
D135G |
probably damaging |
Het |
| Trim10 |
C |
T |
17: 37,188,044 (GRCm39) |
T420I |
possibly damaging |
Het |
| Trip13 |
G |
T |
13: 74,085,614 (GRCm39) |
S29R |
probably benign |
Het |
| Tubgcp5 |
C |
T |
7: 55,468,643 (GRCm39) |
R713C |
probably damaging |
Het |
| Uckl1 |
C |
A |
2: 181,211,746 (GRCm39) |
G420C |
probably damaging |
Het |
| Vangl1 |
A |
T |
3: 102,091,408 (GRCm39) |
V226D |
probably damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,780,256 (GRCm39) |
*633Q |
probably null |
Het |
| Zfhx4 |
A |
G |
3: 5,467,680 (GRCm39) |
K2613E |
probably damaging |
Het |
| Zfp236 |
G |
A |
18: 82,689,834 (GRCm39) |
T215M |
probably damaging |
Het |
| Zfp563 |
A |
G |
17: 33,323,894 (GRCm39) |
H163R |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
|
| Other mutations in Lhcgr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00468:Lhcgr
|
APN |
17 |
89,049,874 (GRCm39) |
missense |
probably benign |
|
|
IGL00661:Lhcgr
|
APN |
17 |
89,057,546 (GRCm39) |
missense |
probably benign |
|
|
IGL00840:Lhcgr
|
APN |
17 |
89,061,164 (GRCm39) |
splice site |
probably benign |
|
|
IGL01434:Lhcgr
|
APN |
17 |
89,049,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01489:Lhcgr
|
APN |
17 |
89,072,401 (GRCm39) |
splice site |
probably benign |
|
|
IGL02077:Lhcgr
|
APN |
17 |
89,057,558 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02533:Lhcgr
|
APN |
17 |
89,049,838 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02948:Lhcgr
|
APN |
17 |
89,050,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
capybara
|
UTSW |
17 |
89,050,014 (GRCm39) |
nonsense |
probably null |
|
|
coro
|
UTSW |
17 |
89,049,677 (GRCm39) |
nonsense |
probably null |
|
|
nutria
|
UTSW |
17 |
89,049,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0101:Lhcgr
|
UTSW |
17 |
89,072,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0101:Lhcgr
|
UTSW |
17 |
89,072,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0556:Lhcgr
|
UTSW |
17 |
89,079,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1824:Lhcgr
|
UTSW |
17 |
89,057,585 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1846:Lhcgr
|
UTSW |
17 |
89,072,575 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1852:Lhcgr
|
UTSW |
17 |
89,072,604 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2352:Lhcgr
|
UTSW |
17 |
89,049,727 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3147:Lhcgr
|
UTSW |
17 |
89,065,771 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3756:Lhcgr
|
UTSW |
17 |
89,061,284 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4180:Lhcgr
|
UTSW |
17 |
89,049,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4540:Lhcgr
|
UTSW |
17 |
89,063,036 (GRCm39) |
missense |
probably benign |
|
|
R4688:Lhcgr
|
UTSW |
17 |
89,072,580 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4717:Lhcgr
|
UTSW |
17 |
89,049,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4723:Lhcgr
|
UTSW |
17 |
89,050,030 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4776:Lhcgr
|
UTSW |
17 |
89,050,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:Lhcgr
|
UTSW |
17 |
89,049,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5195:Lhcgr
|
UTSW |
17 |
89,050,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5231:Lhcgr
|
UTSW |
17 |
89,063,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5361:Lhcgr
|
UTSW |
17 |
89,050,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5683:Lhcgr
|
UTSW |
17 |
89,079,447 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5929:Lhcgr
|
UTSW |
17 |
89,050,436 (GRCm39) |
nonsense |
probably null |
|
|
R5987:Lhcgr
|
UTSW |
17 |
89,063,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6268:Lhcgr
|
UTSW |
17 |
89,050,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6477:Lhcgr
|
UTSW |
17 |
89,049,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6610:Lhcgr
|
UTSW |
17 |
89,077,307 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7234:Lhcgr
|
UTSW |
17 |
89,099,359 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7282:Lhcgr
|
UTSW |
17 |
89,065,811 (GRCm39) |
missense |
probably benign |
|
|
R7320:Lhcgr
|
UTSW |
17 |
89,049,506 (GRCm39) |
missense |
probably benign |
|
|
R7398:Lhcgr
|
UTSW |
17 |
89,079,474 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7710:Lhcgr
|
UTSW |
17 |
89,050,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8034:Lhcgr
|
UTSW |
17 |
89,049,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8108:Lhcgr
|
UTSW |
17 |
89,049,478 (GRCm39) |
nonsense |
probably null |
|
|
R8150:Lhcgr
|
UTSW |
17 |
89,049,677 (GRCm39) |
nonsense |
probably null |
|
|
R8151:Lhcgr
|
UTSW |
17 |
89,049,677 (GRCm39) |
nonsense |
probably null |
|
|
R8236:Lhcgr
|
UTSW |
17 |
89,050,014 (GRCm39) |
nonsense |
probably null |
|
|
R8901:Lhcgr
|
UTSW |
17 |
89,063,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8916:Lhcgr
|
UTSW |
17 |
89,061,170 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9632:Lhcgr
|
UTSW |
17 |
89,049,532 (GRCm39) |
missense |
probably benign |
|
|
R9716:Lhcgr
|
UTSW |
17 |
89,050,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
U24488:Lhcgr
|
UTSW |
17 |
89,079,513 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0028:Lhcgr
|
UTSW |
17 |
89,050,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Lhcgr
|
UTSW |
17 |
89,049,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Lhcgr
|
UTSW |
17 |
89,072,409 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Lhcgr
|
UTSW |
17 |
89,061,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGTGAAGATGAGGATGGCC -3'
(R):5'- TTTACTGTGTTCGCCAGTGAAC -3'
Sequencing Primer
(F):5'- AGGATGGCCATCTTCTTAGC -3'
(R):5'- GTTCGCCAGTGAACTTTCTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation