Mutagenetix > Incidental Mutation

Incidental Mutation 'R5074:Kiss1r'

386850

Institutional Source

Beutler Lab

Gene Symbol

Kiss1r

Ensembl Gene

ENSMUSG00000035773

Gene Name

KISS1 receptor

Synonyms

Gpr54

MMRRC Submission

042663-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5074 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79752805-79758107 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 79754596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 30 (S30*)

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 null
Transcript: ENSMUST00000045529
AA Change: S30*

SMART Domains

Protein: ENSMUSP00000040516
Gene: ENSMUSG00000035773
AA Change: S30*

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

probably null
Transcript: ENSMUST00000219745
AA Change: S30*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219883

Predicted Effect

probably benign
Transcript: ENSMUST00000219867

Meta Mutation Damage Score

0.9644

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.2%

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,210,482 (GRCm39)	H143Q	probably benign	Het
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Adcy8	A	T	15: 64,659,207 (GRCm39)	W528R	probably damaging	Het
Agbl1	A	G	7: 76,071,665 (GRCm39)	E329G	probably damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Ampd2	A	T	3: 107,986,549 (GRCm39)	M245K	probably damaging	Het
Apob	G	A	12: 8,055,219 (GRCm39)		probably null	Het
Apool	C	T	X: 111,259,540 (GRCm39)	Q60*	probably null	Het
Aqp1	A	T	6: 55,322,520 (GRCm39)	I172F	probably damaging	Het
Atp7a	A	G	X: 105,153,374 (GRCm39)	D1092G	probably benign	Het
Ccdc83	A	T	7: 89,899,737 (GRCm39)	F45Y	probably damaging	Het
Cct8l1	G	A	5: 25,721,881 (GRCm39)	V199I	probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cdc25a	T	A	9: 109,713,208 (GRCm39)	C227S	possibly damaging	Het
Ces1a	A	G	8: 93,759,303 (GRCm39)	S278P	possibly damaging	Het
Cfap65	A	T	1: 74,962,137 (GRCm39)	S695T	probably benign	Het
Col13a1	A	G	10: 61,709,797 (GRCm39)		silent	Het
Ctps1	A	T	4: 120,411,170 (GRCm39)	L282Q	probably damaging	Het
Cyp2a22	A	T	7: 26,631,906 (GRCm39)	F450Y	probably benign	Het
Cyp2d10	C	T	15: 82,287,954 (GRCm39)	R383H	probably benign	Het
Dennd3	G	A	15: 73,419,144 (GRCm39)	R645H	probably damaging	Het
Dnaaf5	G	T	5: 139,159,962 (GRCm39)	R620L	probably damaging	Het
Dnah11	A	T	12: 118,046,188 (GRCm39)	L1750*	probably null	Het
Dnah9	A	G	11: 65,740,866 (GRCm39)	F4107L	probably damaging	Het
Dnaja3	A	T	16: 4,514,289 (GRCm39)	T274S	probably damaging	Het
Dot1l	A	G	10: 80,620,480 (GRCm39)	D514G	possibly damaging	Het
Dst	A	C	1: 34,334,344 (GRCm39)	K4857N	probably damaging	Het
Dysf	A	T	6: 84,114,254 (GRCm39)	K1226M	probably damaging	Het
Enpep	T	A	3: 129,097,404 (GRCm39)	Q409L	probably damaging	Het
Fign	A	T	2: 63,810,037 (GRCm39)	L411*	probably null	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fryl	G	A	5: 73,232,110 (GRCm39)	P1550L	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
H2ab3	T	C	X: 119,222,543 (GRCm39)	T84A	probably damaging	Het
Hal	A	T	10: 93,349,904 (GRCm39)	I555F	probably damaging	Het
Hibadh	C	T	6: 52,597,079 (GRCm39)	V122M	possibly damaging	Het
Hsd3b3	T	C	3: 98,649,340 (GRCm39)	T328A	possibly damaging	Het
Ifi44	T	C	3: 151,455,269 (GRCm39)		probably benign	Het
Ifi47	A	G	11: 48,986,361 (GRCm39)	T43A	probably benign	Het
Inf2	A	T	12: 112,578,473 (GRCm39)		probably null	Het
Itga10	C	T	3: 96,559,527 (GRCm39)	Q475*	probably null	Het
Itga6	T	A	2: 71,656,779 (GRCm39)	D344E	probably benign	Het
Kcnmb4	T	C	10: 116,309,102 (GRCm39)	T109A	probably benign	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Lrrc66	G	A	5: 73,765,354 (GRCm39)	P563L	probably damaging	Het
Mamdc2	T	C	19: 23,356,160 (GRCm39)	D96G	probably benign	Het
Map3k12	A	T	15: 102,410,267 (GRCm39)		probably null	Het
Mc3r	A	T	2: 172,091,533 (GRCm39)	I252F	possibly damaging	Het
Metrn	C	T	17: 26,015,613 (GRCm39)	G34D	probably damaging	Het
Mipep	A	G	14: 61,046,462 (GRCm39)	E328G	probably benign	Het
Mrtfa	A	G	15: 80,906,627 (GRCm39)	V91A	probably damaging	Het
Muc5b	A	T	7: 141,412,999 (GRCm39)	T1982S	unknown	Het
Myh8	A	T	11: 67,196,742 (GRCm39)	T1792S	possibly damaging	Het
Myo1a	T	C	10: 127,543,288 (GRCm39)		probably null	Het
Myo5a	T	A	9: 75,081,438 (GRCm39)	S1008T	probably benign	Het
Ncald	A	T	15: 37,397,478 (GRCm39)	H67Q	probably damaging	Het
Nudt5	T	A	2: 5,869,198 (GRCm39)	H141Q	probably benign	Het
Numbl	G	A	7: 26,980,415 (GRCm39)	D466N	probably damaging	Het
Nup210	T	A	6: 91,032,309 (GRCm39)	I20F	probably benign	Het
Odad1	T	A	7: 45,578,514 (GRCm39)	M29K	probably benign	Het
Or10ak12	A	C	4: 118,666,057 (GRCm39)	W319G	possibly damaging	Het
Or10p21	T	C	10: 128,847,213 (GRCm39)	Y20H	possibly damaging	Het
Or14c46	A	G	7: 85,918,799 (GRCm39)	I66T	probably damaging	Het
Or51l14	A	T	7: 103,100,617 (GRCm39)	E24D	probably benign	Het
Or52e8b	A	T	7: 104,673,260 (GRCm39)	M309K	probably benign	Het
Or52n2c	A	C	7: 104,574,700 (GRCm39)	N90K	probably benign	Het
Or7h8	A	T	9: 20,123,878 (GRCm39)	I78F	possibly damaging	Het
Or8h10	A	T	2: 86,808,666 (GRCm39)	V158D	possibly damaging	Het
Papolg	G	A	11: 23,817,331 (GRCm39)	T153I	possibly damaging	Het
Pappa	A	G	4: 65,123,365 (GRCm39)	H900R	probably benign	Het
Pcdh17	T	C	14: 84,770,782 (GRCm39)	S1087P	probably benign	Het
Phf11a	T	G	14: 59,521,849 (GRCm39)	L107F	possibly damaging	Het
Phlpp2	A	T	8: 110,652,461 (GRCm39)	I602F	probably damaging	Het
Pik3c2g	T	A	6: 139,665,873 (GRCm39)	C65S	probably null	Het
Pilra	A	G	5: 137,833,674 (GRCm39)	F131L	probably damaging	Het
Pomt2	A	C	12: 87,180,234 (GRCm39)	C256G	probably damaging	Het
Ppl	A	T	16: 4,906,742 (GRCm39)	S1184R	probably benign	Het
Prkaa1	G	T	15: 5,206,392 (GRCm39)	R416L	possibly damaging	Het
Prkdc	C	A	16: 15,589,912 (GRCm39)	R2592S	probably damaging	Het
Prmt2	C	T	10: 76,058,390 (GRCm39)	V140I	probably damaging	Het
Prodh	A	T	16: 17,895,653 (GRCm39)		probably null	Het
Psg29	T	A	7: 16,945,763 (GRCm39)	D444E	probably damaging	Het
Ptgs1	A	T	2: 36,141,272 (GRCm39)	N573I	probably damaging	Het
Rbm38	C	T	2: 172,863,875 (GRCm39)	P15S	probably benign	Het
Riox2	T	C	16: 59,312,236 (GRCm39)	S458P	possibly damaging	Het
Rnase4	T	C	14: 51,342,702 (GRCm39)	V142A	possibly damaging	Het
Rnf138	A	G	18: 21,159,204 (GRCm39)	N244S	probably benign	Het
Rnf40	T	C	7: 127,196,458 (GRCm39)	L802P	probably damaging	Het
Sfxn4	C	T	19: 60,839,450 (GRCm39)	V203M	probably damaging	Het
Skor2	G	T	18: 76,946,649 (GRCm39)	E124*	probably null	Het
Slc4a2	G	A	5: 24,643,760 (GRCm39)	S855N	probably benign	Het
Slc8a2	T	C	7: 15,884,508 (GRCm39)	L626P	possibly damaging	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Slirp	A	G	12: 87,490,784 (GRCm39)	T29A	probably damaging	Het
Snrpd3	G	T	10: 75,355,227 (GRCm39)	C20F	possibly damaging	Het
Spag17	T	A	3: 99,987,434 (GRCm39)	Y1575N	possibly damaging	Het
St8sia4	G	A	1: 95,594,910 (GRCm39)	A26V	probably benign	Het
Stab2	A	T	10: 86,699,422 (GRCm39)	I481N	probably benign	Het
Tenm2	T	A	11: 35,959,208 (GRCm39)	T1114S	probably damaging	Het
Tgm1	A	G	14: 55,947,392 (GRCm39)	V323A	probably damaging	Het
Tmco4	A	G	4: 138,785,433 (GRCm39)	H501R	probably damaging	Het
Tob1	A	T	11: 94,104,567 (GRCm39)	R34S	possibly damaging	Het
Trhr2	C	T	8: 123,084,110 (GRCm39)	V297I	probably benign	Het
Trim30d	A	C	7: 104,137,165 (GRCm39)	V13G	probably damaging	Het
Trpm3	T	C	19: 22,862,713 (GRCm39)	V485A	possibly damaging	Het
Trrap	T	C	5: 144,787,989 (GRCm39)	I3518T	probably damaging	Het
Ttc27	T	C	17: 75,054,750 (GRCm39)	L352P	probably damaging	Het
Ush1g	A	G	11: 115,209,123 (GRCm39)	L357P	possibly damaging	Het
Usp24	A	G	4: 106,277,644 (GRCm39)	H2258R	probably benign	Het
Vcam1	A	G	3: 115,918,037 (GRCm39)	V308A	probably damaging	Het
Vdr	A	G	15: 97,755,459 (GRCm39)	S355P	probably benign	Het
Vldlr	T	C	19: 27,215,677 (GRCm39)	S184P	probably damaging	Het
Xpo4	C	A	14: 57,822,098 (GRCm39)	A1073S	probably benign	Het
Zfand2b	A	G	1: 75,147,634 (GRCm39)	D224G	probably benign	Het
Zfp263	A	G	16: 3,564,704 (GRCm39)	R240G	possibly 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
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
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
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'- GGTATAAAAGTGGCCGCTGC -3'
(R):5'- ACTGGAATCTGAGGAGCCTC -3'

Sequencing Primer
(F):5'- AGGAGCCTCTTTCCAGCC -3'
(R):5'- AATCTGAGGAGCCTCGCTTC -3'

Posted On

2016-06-06