Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01370:Kiss1r'

76094

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) question?

Stock #

IGL01370

Quality Score

Status

Chromosome

Chromosomal Location

79752805-79758107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79754658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 51 (T51A)

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: T51A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040516
Gene: ENSMUSG00000035773
AA Change: T51A

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: ENSMUST00000217976

Predicted Effect

probably benign
Transcript: ENSMUST00000218750

Predicted Effect

probably benign
Transcript: ENSMUST00000218970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219206

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219883

Predicted Effect

probably benign
Transcript: ENSMUST00000219745
AA Change: T51A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000219867

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	T	12: 88,423,503 (GRCm39)		probably benign	Het
Add1	C	T	5: 34,787,859 (GRCm39)	T210I	probably damaging	Het
Ajm1	T	C	2: 25,468,969 (GRCm39)	E314G	possibly damaging	Het
Alpk2	A	T	18: 65,483,662 (GRCm39)	D115E	possibly damaging	Het
Ankrd36	C	T	11: 5,534,019 (GRCm39)	T290I	probably benign	Het
Bltp1	T	A	3: 37,001,904 (GRCm39)	I1283N	probably benign	Het
Castor2	T	C	5: 134,167,111 (GRCm39)	V323A	probably benign	Het
Ccnt2	T	C	1: 127,731,250 (GRCm39)	F709S	possibly damaging	Het
Erc1	T	C	6: 119,801,426 (GRCm39)	E197G	probably damaging	Het
Ftsj3	G	T	11: 106,143,145 (GRCm39)	R390S	possibly damaging	Het
Gabrb3	G	A	7: 57,466,226 (GRCm39)	A347T	probably benign	Het
Gde1	A	G	7: 118,288,383 (GRCm39)		probably benign	Het
Jhy	A	T	9: 40,828,438 (GRCm39)	N489K	probably benign	Het
Lama5	T	C	2: 179,839,193 (GRCm39)	S772G	possibly damaging	Het
Lamb2	G	T	9: 108,364,932 (GRCm39)		probably null	Het
Loxl3	A	G	6: 83,026,468 (GRCm39)	T475A	probably damaging	Het
Lpl	A	T	8: 69,340,220 (GRCm39)	S72C	possibly damaging	Het
Lrrc74a	A	T	12: 86,801,204 (GRCm39)	I352F	probably damaging	Het
Mcoln2	T	C	3: 145,887,585 (GRCm39)	I334T	possibly damaging	Het
Mettl8	T	G	2: 70,812,383 (GRCm39)	D49A	probably damaging	Het
Ms4a3	T	A	19: 11,610,245 (GRCm39)	T106S	probably benign	Het
Obscn	T	A	11: 58,886,389 (GRCm39)		probably null	Het
Or14j2	T	C	17: 37,885,412 (GRCm39)	I301V	probably null	Het
Or1o11	C	A	17: 37,756,605 (GRCm39)	H64Q	probably benign	Het
Or1p1c	G	A	11: 74,160,325 (GRCm39)	V37I	probably benign	Het
Or4n4	G	T	14: 50,519,689 (GRCm39)	T7K	probably damaging	Het
Or5b107	A	T	19: 13,142,663 (GRCm39)	Y95F	possibly damaging	Het
Pcnx2	T	C	8: 126,528,222 (GRCm39)	K1333E	probably damaging	Het
Pias3	T	C	3: 96,610,891 (GRCm39)	F364L	probably damaging	Het
Piezo2	T	A	18: 63,155,531 (GRCm39)	I2438F	probably damaging	Het
Plcb3	A	C	19: 6,940,192 (GRCm39)	V465G	probably damaging	Het
Plekho2	G	T	9: 65,465,912 (GRCm39)	H159N	probably damaging	Het
Polr2e	A	G	10: 79,872,681 (GRCm39)		probably benign	Het
Rab6b	G	T	9: 103,041,094 (GRCm39)	V163L	probably benign	Het
Rabep1	A	G	11: 70,816,607 (GRCm39)	M597V	probably benign	Het
Rbm15	A	G	3: 107,238,326 (GRCm39)	S691P	probably damaging	Het
Sec24b	G	A	3: 129,801,253 (GRCm39)		probably benign	Het
Slc6a18	A	G	13: 73,815,150 (GRCm39)	I386T	probably damaging	Het
Stxbp3	A	C	3: 108,704,741 (GRCm39)	Y497*	probably null	Het
Styk1	T	C	6: 131,278,615 (GRCm39)	K353R	probably damaging	Het
Tbc1d10b	A	T	7: 126,798,253 (GRCm39)	H629Q	probably damaging	Het
Tbc1d5	T	A	17: 51,273,755 (GRCm39)	I119F	probably benign	Het
Tcp11l1	G	T	2: 104,536,831 (GRCm39)	D11E	probably benign	Het
Tfap2d	A	G	1: 19,175,009 (GRCm39)	Y154C	probably damaging	Het
Tgm5	T	C	2: 120,884,018 (GRCm39)	N325S	probably benign	Het
Thbs2	T	C	17: 14,910,327 (GRCm39)	K91E	possibly damaging	Het
Vmn2r26	T	A	6: 124,038,715 (GRCm39)	F763L	probably benign	Het
Washc4	A	G	10: 83,394,694 (GRCm39)	E308G	probably damaging	Het
Xpot	C	A	10: 121,440,399 (GRCm39)	A611S	probably benign	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
IGL00954:Kiss1r	APN	10	79,757,834 (GRCm39)	missense	probably damaging	0.99
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

2013-10-07