Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02548:Tacr3'

297935

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tacr3

Ensembl Gene

ENSMUSG00000028172

Gene Name

tachykinin receptor 3

Synonyms

Nk3r, Tac3r, neuromedin K receptor

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02548

Quality Score

Status

Chromosome

Chromosomal Location

134534768-134640340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 134535232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 67 (Q67K)

Ref Sequence

ENSEMBL: ENSMUSP00000029822 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029822]

AlphaFold

P47937

Predicted Effect

probably damaging
Transcript: ENSMUST00000029822
AA Change: Q67K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029822
Gene: ENSMUSG00000028172
AA Change: Q67K

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	83	358	2.4e-11	PFAM
Pfam:7tm_1	89	343	3.6e-58	PFAM
low complexity region	433	447	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene belongs to a family of genes that function as receptors for tachykinins. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neurokinin 3, also referred to as neurokinin B. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased body weight, cognitive deficits in tests associated with learning and memory and symptoms of hypogonadotropic hypogonadism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	G	A	7: 45,654,686 (GRCm39)	A545V	probably damaging	Het
Adam29	A	T	8: 56,325,902 (GRCm39)	L184*	probably null	Het
Ap1g1	C	T	8: 110,576,254 (GRCm39)	A432V	probably damaging	Het
Atrn	C	T	2: 130,814,202 (GRCm39)	T716I	probably damaging	Het
Bahd1	C	A	2: 118,747,526 (GRCm39)	Q382K	possibly damaging	Het
Barhl2	A	G	5: 106,603,391 (GRCm39)	V256A	probably benign	Het
Camta2	A	G	11: 70,561,511 (GRCm39)	F1113L	probably damaging	Het
Cdh23	G	T	10: 60,485,901 (GRCm39)	T38K	probably benign	Het
Cmtm3	T	C	8: 105,071,437 (GRCm39)	L111P	probably damaging	Het
Col27a1	T	C	4: 63,236,492 (GRCm39)		probably benign	Het
Cyp2c29	G	A	19: 39,279,291 (GRCm39)	G96D	possibly damaging	Het
Flt1	C	A	5: 147,576,058 (GRCm39)	R650L	probably benign	Het
Fpr1	T	A	17: 18,096,915 (GRCm39)	E358V	probably benign	Het
Ggnbp2	A	T	11: 84,753,112 (GRCm39)	N42K	possibly damaging	Het
Gldc	T	C	19: 30,077,299 (GRCm39)	T958A	probably benign	Het
Gm3573	A	G	14: 42,009,452 (GRCm39)		probably null	Het
Hspbp1	T	C	7: 4,684,840 (GRCm39)		probably benign	Het
Jhy	G	T	9: 40,828,471 (GRCm39)	Y478*	probably null	Het
Kiz	A	G	2: 146,712,690 (GRCm39)	E118G	probably damaging	Het
Klhdc1	A	G	12: 69,300,492 (GRCm39)	Y144C	probably benign	Het
Lamc3	A	T	2: 31,810,674 (GRCm39)	Y848F	probably benign	Het
Mixl1	T	C	1: 180,522,269 (GRCm39)	E204G	probably benign	Het
Muc2	T	A	7: 141,305,594 (GRCm39)	C202S	probably damaging	Het
Nfatc1	T	C	18: 80,741,113 (GRCm39)	S282G	probably damaging	Het
Or2j6	T	A	7: 139,980,575 (GRCm39)	Y128F	probably damaging	Het
Or5b111	T	C	19: 13,291,302 (GRCm39)	M116V	probably damaging	Het
Or5k8	C	A	16: 58,644,691 (GRCm39)	C127F	probably benign	Het
Orc2	A	T	1: 58,505,281 (GRCm39)		probably benign	Het
Pcdhb10	T	C	18: 37,545,743 (GRCm39)	I273T	probably benign	Het
Pdzph1	G	A	17: 59,280,386 (GRCm39)	T632I	probably benign	Het
Phf1	A	G	17: 27,154,600 (GRCm39)	Y225C	probably damaging	Het
Pramel17	T	A	4: 101,692,770 (GRCm39)	Y410F	probably damaging	Het
Prcp	T	C	7: 92,550,382 (GRCm39)	F60L	probably damaging	Het
Psg21	C	T	7: 18,388,961 (GRCm39)	V44I	possibly damaging	Het
Ptgdr	C	T	14: 45,096,071 (GRCm39)	V214M	probably damaging	Het
Pth1r	G	A	9: 110,556,748 (GRCm39)	R181W	probably damaging	Het
Ralgapb	A	G	2: 158,286,585 (GRCm39)	I343M	probably damaging	Het
Retreg1	C	T	15: 25,895,204 (GRCm39)	Q128*	probably null	Het
Rrbp1	T	C	2: 143,791,679 (GRCm39)		probably benign	Het
Skint5	T	A	4: 113,588,273 (GRCm39)	M726L	unknown	Het
Slc6a18	T	C	13: 73,818,114 (GRCm39)	Y301C	probably damaging	Het
Slc8a3	G	A	12: 81,250,930 (GRCm39)		probably benign	Het
Tfrc	A	T	16: 32,443,640 (GRCm39)	K534*	probably null	Het
Timp3	T	A	10: 86,174,315 (GRCm39)	M67K	probably benign	Het
Tmem120a	C	T	5: 135,765,628 (GRCm39)	E179K	probably damaging	Het
Tomm40l	G	A	1: 171,049,216 (GRCm39)		probably benign	Het
Tubal3	A	G	13: 3,980,554 (GRCm39)	R89G	probably benign	Het
Wdr35	A	T	12: 9,074,297 (GRCm39)	N976I	probably benign	Het
Zfp292	T	C	4: 34,805,416 (GRCm39)	T2543A	probably damaging	Het
Zfp976	T	A	7: 42,261,953 (GRCm39)	H628L	unknown	Het
Zmynd8	A	G	2: 165,675,325 (GRCm39)	V301A	probably damaging	Het

Other mutations in Tacr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Tacr3	APN	3	134,560,582 (GRCm39)	missense	probably benign	0.31
IGL00972:Tacr3	APN	3	134,638,116 (GRCm39)	missense	probably benign	0.19
IGL01291:Tacr3	APN	3	134,635,810 (GRCm39)	missense	probably damaging	1.00
IGL01417:Tacr3	APN	3	134,535,242 (GRCm39)	missense	possibly damaging	0.52
IGL01417:Tacr3	APN	3	134,535,307 (GRCm39)	missense	possibly damaging	0.95
IGL02282:Tacr3	APN	3	134,566,834 (GRCm39)	missense	probably benign	0.01
IGL02645:Tacr3	APN	3	134,566,943 (GRCm39)	missense	possibly damaging	0.46
IGL03085:Tacr3	APN	3	134,638,027 (GRCm39)	missense	possibly damaging	0.93
IGL03247:Tacr3	APN	3	134,635,852 (GRCm39)	splice site	probably benign
ANU05:Tacr3	UTSW	3	134,635,810 (GRCm39)	missense	probably damaging	1.00
R0355:Tacr3	UTSW	3	134,637,989 (GRCm39)	missense	probably benign	0.28
R0731:Tacr3	UTSW	3	134,560,761 (GRCm39)	critical splice donor site	probably null
R1570:Tacr3	UTSW	3	134,535,517 (GRCm39)	missense	probably damaging	0.97
R1686:Tacr3	UTSW	3	134,535,254 (GRCm39)	missense	probably damaging	1.00
R2129:Tacr3	UTSW	3	134,560,621 (GRCm39)	missense	probably damaging	1.00
R2130:Tacr3	UTSW	3	134,637,941 (GRCm39)	missense	probably benign	0.00
R2131:Tacr3	UTSW	3	134,637,941 (GRCm39)	missense	probably benign	0.00
R2352:Tacr3	UTSW	3	134,560,631 (GRCm39)	missense	probably benign	0.09
R4695:Tacr3	UTSW	3	134,635,690 (GRCm39)	missense	probably damaging	1.00
R4695:Tacr3	UTSW	3	134,535,182 (GRCm39)	missense	probably benign	0.01
R4840:Tacr3	UTSW	3	134,560,615 (GRCm39)	missense	possibly damaging	0.71
R4976:Tacr3	UTSW	3	134,638,033 (GRCm39)	missense	probably benign	0.14
R5168:Tacr3	UTSW	3	134,535,320 (GRCm39)	missense	probably damaging	1.00
R5924:Tacr3	UTSW	3	134,638,060 (GRCm39)	missense	possibly damaging	0.65
R6042:Tacr3	UTSW	3	134,638,153 (GRCm39)	missense	probably benign	0.01
R6964:Tacr3	UTSW	3	134,535,500 (GRCm39)	missense	probably damaging	1.00
R7653:Tacr3	UTSW	3	134,566,843 (GRCm39)	missense	probably benign	0.02
R7724:Tacr3	UTSW	3	134,635,669 (GRCm39)	missense	probably damaging	1.00
R8291:Tacr3	UTSW	3	134,637,910 (GRCm39)	missense	possibly damaging	0.80
R8987:Tacr3	UTSW	3	134,560,718 (GRCm39)	missense	probably damaging	0.99
R8987:Tacr3	UTSW	3	134,560,573 (GRCm39)	missense	probably damaging	1.00
R9077:Tacr3	UTSW	3	134,635,711 (GRCm39)	missense	probably benign	0.05
R9423:Tacr3	UTSW	3	134,638,043 (GRCm39)	missense	probably benign
R9501:Tacr3	UTSW	3	134,535,092 (GRCm39)	missense	probably benign

Posted On

2015-04-16