Incidental Mutation 'IGL00954:Kiss1r'
| ID |
28376 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kiss1r
|
| Ensembl Gene |
ENSMUSG00000035773 |
| Gene Name |
KISS1 receptor |
| Synonyms |
Gpr54 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00954
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
79752805-79758107 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79757834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 396
(L396P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045529]
[ENSMUST00000045628]
[ENSMUST00000171416]
[ENSMUST00000219745]
[ENSMUST00000219867]
|
| AlphaFold |
Q91V45 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045529
AA Change: L396P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040516
Gene: ENSMUSG00000035773
AA Change: L396P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
53 |
338 |
1.7e-6 |
PFAM |
|
Pfam:7tm_1
|
59 |
323 |
7e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045628
|
| SMART Domains |
Protein: ENSMUSP00000044570
Gene: ENSMUSG00000035781
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
Pfam:R3H-assoc
|
43 |
177 |
1.2e-35 |
PFAM |
|
Pfam:R3H
|
181 |
244 |
7.2e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171416
|
| SMART Domains |
Protein: ENSMUSP00000132266
Gene: ENSMUSG00000035781
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
33 |
N/A |
INTRINSIC |
|
Pfam:R3H-assoc
|
43 |
177 |
4.9e-39 |
PFAM |
|
Pfam:R3H
|
183 |
243 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219745
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219867
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219883
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 galanin-like G protein-coupled receptor that binds metastin, a peptide encoded by the metastasis suppressor gene KISS1. The tissue distribution of the expressed gene suggests that it is involved in the regulation of endocrine function, and this is supported by the finding that this gene appears to play a role in the onset of puberty. Mutations in this gene have been associated with hypogonadotropic hypogonadism and central precocious puberty. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutations result in male and female infertility associated with abnormal sexual maturation and hypogonadotropic hypogonadism. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
C |
T |
18: 61,972,756 (GRCm39) |
|
probably benign |
Het |
| Alox5 |
A |
T |
6: 116,431,260 (GRCm39) |
V56D |
probably damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,118,201 (GRCm39) |
S158P |
probably damaging |
Het |
| B3glct |
T |
A |
5: 149,619,902 (GRCm39) |
M19K |
probably benign |
Het |
| BC049715 |
A |
T |
6: 136,817,093 (GRCm39) |
E111V |
possibly damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,645,403 (GRCm39) |
T1492K |
probably damaging |
Het |
| Cfap221 |
T |
C |
1: 119,861,939 (GRCm39) |
E612G |
probably damaging |
Het |
| Cttnbp2 |
C |
A |
6: 18,381,061 (GRCm39) |
K868N |
possibly damaging |
Het |
| Dpy19l2 |
T |
A |
9: 24,494,114 (GRCm39) |
N672I |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,701,166 (GRCm39) |
I51N |
probably damaging |
Het |
| Gdi2 |
T |
C |
13: 3,606,467 (GRCm39) |
V181A |
probably benign |
Het |
| Ggt1 |
G |
A |
10: 75,420,697 (GRCm39) |
R354Q |
probably benign |
Het |
| Hao1 |
A |
G |
2: 134,340,181 (GRCm39) |
I370T |
possibly damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Jag2 |
G |
T |
12: 112,884,026 (GRCm39) |
S184R |
possibly damaging |
Het |
| Kctd16 |
A |
G |
18: 40,391,853 (GRCm39) |
D147G |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Lrrc66 |
G |
T |
5: 73,765,741 (GRCm39) |
T434K |
possibly damaging |
Het |
| Macroh2a1 |
A |
G |
13: 56,222,132 (GRCm39) |
S340P |
possibly damaging |
Het |
| Mcm5 |
A |
T |
8: 75,836,740 (GRCm39) |
N64Y |
possibly damaging |
Het |
| Mroh2b |
A |
T |
15: 4,932,536 (GRCm39) |
Y54F |
probably damaging |
Het |
| Or10al6 |
T |
A |
17: 38,083,505 (GRCm39) |
N329K |
probably benign |
Het |
| Or7g18 |
T |
A |
9: 18,787,369 (GRCm39) |
S249T |
probably benign |
Het |
| Osgep |
T |
A |
14: 51,153,619 (GRCm39) |
I320F |
probably benign |
Het |
| Pcdh18 |
T |
A |
3: 49,710,838 (GRCm39) |
D159V |
probably damaging |
Het |
| Phf20l1 |
G |
A |
15: 66,513,757 (GRCm39) |
V978I |
probably damaging |
Het |
| Phospho1 |
T |
A |
11: 95,721,909 (GRCm39) |
V193E |
probably damaging |
Het |
| Pip4k2b |
T |
C |
11: 97,635,331 (GRCm39) |
K34E |
probably damaging |
Het |
| Plb1 |
T |
C |
5: 32,455,858 (GRCm39) |
|
probably benign |
Het |
| Safb2 |
A |
G |
17: 56,885,639 (GRCm39) |
|
probably null |
Het |
| Sgsh |
T |
A |
11: 119,237,311 (GRCm39) |
E434D |
probably benign |
Het |
| Tkt |
C |
T |
14: 30,291,052 (GRCm39) |
H355Y |
probably damaging |
Het |
| Tmem128 |
A |
G |
5: 38,419,389 (GRCm39) |
N47S |
probably damaging |
Het |
| Tmem232 |
A |
G |
17: 65,807,148 (GRCm39) |
I15T |
probably damaging |
Het |
| Tns1 |
A |
C |
1: 73,964,128 (GRCm39) |
V1501G |
probably damaging |
Het |
| Vmn2r24 |
G |
A |
6: 123,792,596 (GRCm39) |
C641Y |
probably damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,449,975 (GRCm39) |
T74A |
probably benign |
Het |
| Zfp820 |
T |
C |
17: 22,038,860 (GRCm39) |
Y156C |
probably damaging |
Het |
|
| Other mutations in Kiss1r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00516:Kiss1r
|
APN |
10 |
79,754,550 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01370:Kiss1r
|
APN |
10 |
79,754,658 (GRCm39) |
missense |
probably benign |
0.01 |
|
locked
|
UTSW |
10 |
79,754,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0111:Kiss1r
|
UTSW |
10 |
79,754,523 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1759:Kiss1r
|
UTSW |
10 |
79,757,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2348:Kiss1r
|
UTSW |
10 |
79,757,654 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4654:Kiss1r
|
UTSW |
10 |
79,757,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5015:Kiss1r
|
UTSW |
10 |
79,754,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Kiss1r
|
UTSW |
10 |
79,754,596 (GRCm39) |
nonsense |
probably null |
|
|
R5073:Kiss1r
|
UTSW |
10 |
79,754,596 (GRCm39) |
nonsense |
probably null |
|
|
R5074:Kiss1r
|
UTSW |
10 |
79,754,596 (GRCm39) |
nonsense |
probably null |
|
|
R5140:Kiss1r
|
UTSW |
10 |
79,757,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5253:Kiss1r
|
UTSW |
10 |
79,756,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5990:Kiss1r
|
UTSW |
10 |
79,754,541 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6625:Kiss1r
|
UTSW |
10 |
79,755,368 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7045:Kiss1r
|
UTSW |
10 |
79,755,259 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7051:Kiss1r
|
UTSW |
10 |
79,754,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7161:Kiss1r
|
UTSW |
10 |
79,755,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9108:Kiss1r
|
UTSW |
10 |
79,754,336 (GRCm39) |
intron |
probably benign |
|
|
R9165:Kiss1r
|
UTSW |
10 |
79,756,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation