Incidental Mutation 'R0111:Kiss1r'
ID 20463
Institutional Source Beutler Lab
Gene Symbol Kiss1r
Ensembl Gene ENSMUSG00000035773
Gene Name KISS1 receptor
Synonyms Gpr54
MMRRC Submission 038397-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0111 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 10
Chromosomal Location 79752805-79758107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79754523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 6 (T6A)
Ref Sequence ENSEMBL: ENSMUSP00000151936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045529] [ENSMUST00000045628] [ENSMUST00000171416] [ENSMUST00000217976] [ENSMUST00000218750] [ENSMUST00000218970] [ENSMUST00000219745] [ENSMUST00000219867]
AlphaFold Q91V45
Predicted Effect probably benign
Transcript: ENSMUST00000045529
AA Change: T6A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000040516
Gene: ENSMUSG00000035773
AA Change: T6A

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000217976
Predicted Effect probably benign
Transcript: ENSMUST00000218750
Predicted Effect probably benign
Transcript: ENSMUST00000218970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219206
Predicted Effect possibly damaging
Transcript: ENSMUST00000219745
AA Change: T6A

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000219867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219883
Meta Mutation Damage Score 0.0962 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.8%
Validation Efficiency 100% (65/65)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 A T 17: 56,124,073 (GRCm39) H491L possibly damaging Het
Adgrg3 T C 8: 95,761,738 (GRCm39) probably benign Het
Arhgap5 T C 12: 52,606,743 (GRCm39) probably benign Het
Asic1 T C 15: 99,594,864 (GRCm39) Y334H probably damaging Het
Calcr T A 6: 3,717,157 (GRCm39) D101V probably damaging Het
Cdh2 A T 18: 16,907,566 (GRCm39) N57K probably benign Het
Clec4d C A 6: 123,245,006 (GRCm39) Y95* probably null Het
Cracr2a A G 6: 127,581,024 (GRCm39) T67A probably benign Het
Dennd5a A T 7: 109,533,961 (GRCm39) V53D probably damaging Het
Dnah7a T C 1: 53,507,843 (GRCm39) D3076G probably benign Het
Espnl T C 1: 91,272,464 (GRCm39) M608T probably benign Het
Fam149a C T 8: 45,794,183 (GRCm39) probably benign Het
Flnc T C 6: 29,454,339 (GRCm39) V1884A probably damaging Het
Helz2 A C 2: 180,879,595 (GRCm39) S674R probably benign Het
Hoxa2 T G 6: 52,141,467 (GRCm39) probably null Het
Ifi47 T A 11: 48,986,897 (GRCm39) N221K probably damaging Het
Ipo9 A G 1: 135,333,662 (GRCm39) V340A probably damaging Het
Kalrn A T 16: 33,851,960 (GRCm39) N373K probably damaging Het
Kif26a T C 12: 112,129,771 (GRCm39) probably benign Het
Lama1 A T 17: 68,044,493 (GRCm39) I131F probably damaging Het
Nefm T C 14: 68,361,991 (GRCm39) D91G probably benign Het
Nos3 C T 5: 24,577,702 (GRCm39) T572I probably damaging Het
Notch2 T C 3: 98,046,077 (GRCm39) F1710L probably benign Het
Or13e8 T C 4: 43,696,648 (GRCm39) N175S probably damaging Het
Or6c6c T A 10: 129,541,146 (GRCm39) I133N probably damaging Het
Ostm1 T C 10: 42,555,254 (GRCm39) L92P probably damaging Het
Pcdh15 T A 10: 74,462,651 (GRCm39) Y1445* probably null Het
Pde1b T C 15: 103,411,940 (GRCm39) S14P probably benign Het
Pitpna T C 11: 75,516,310 (GRCm39) V265A probably benign Het
Plec G T 15: 76,062,846 (GRCm39) T2476K probably damaging Het
Pold2 A G 11: 5,826,760 (GRCm39) L58P probably damaging Het
Ppp3cc C T 14: 70,493,808 (GRCm39) probably null Het
Prss36 A G 7: 127,533,717 (GRCm39) L530P probably damaging Het
Ptpn13 T C 5: 103,728,629 (GRCm39) probably benign Het
Ptpn23 T C 9: 110,214,691 (GRCm39) D1570G probably damaging Het
Rab42 T C 4: 132,029,676 (GRCm39) D182G possibly damaging Het
Rbm27 T A 18: 42,438,737 (GRCm39) probably benign Het
Rp1 T C 1: 4,414,983 (GRCm39) E2043G probably damaging Het
Rufy3 C T 5: 88,778,443 (GRCm39) S341F probably damaging Het
Samd9l C T 6: 3,374,946 (GRCm39) V772I possibly damaging Het
Scaper A G 9: 55,510,074 (GRCm39) M654T probably benign Het
Shld2 T C 14: 33,989,686 (GRCm39) K407E probably damaging Het
Sipa1l3 G A 7: 29,047,743 (GRCm39) P333S probably damaging Het
Slc30a10 C A 1: 185,187,744 (GRCm39) R162S probably benign Het
Spryd3 A T 15: 102,036,972 (GRCm39) probably null Het
Tas2r110 T C 6: 132,845,166 (GRCm39) F66L probably benign Het
Tent5c T C 3: 100,380,102 (GRCm39) D218G probably damaging Het
Thap2 T C 10: 115,208,532 (GRCm39) N196S probably benign Het
Themis2 C A 4: 132,517,236 (GRCm39) R88L probably benign Het
Trip12 A T 1: 84,736,854 (GRCm39) probably benign Het
Ube3b T A 5: 114,528,437 (GRCm39) probably benign Het
Usp20 T A 2: 30,892,624 (GRCm39) H64Q probably damaging Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Vmn2r15 T C 5: 109,435,022 (GRCm39) R561G possibly damaging Het
Vsig10l A G 7: 43,117,525 (GRCm39) D604G probably damaging Het
Wdr90 A G 17: 26,067,418 (GRCm39) probably benign Het
Xirp2 A T 2: 67,338,722 (GRCm39) N321I probably damaging Het
Zfp595 A G 13: 67,468,984 (GRCm39) F11S possibly damaging Het
Zfp953 T A 13: 67,491,139 (GRCm39) H271L probably damaging Het
Other mutations in Kiss1r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Kiss1r APN 10 79,754,550 (GRCm39) missense possibly damaging 0.67
IGL00954:Kiss1r APN 10 79,757,834 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TCATCCGGGCATAGCTCTGGAAAG -3'
(R):5'- CCAGCCCAAGCAACATGAGTGTAG -3'

Sequencing Primer
(F):5'- CTAGCAGAGGAGCCTCTTTC -3'
(R):5'- GCAACATGAGTGTAGCGAAAAAC -3'
Posted On 2013-04-11