Mutagenetix > Incidental Mutation

Incidental Mutation 'R9423:Tacr3'

712426

Institutional Source

Beutler Lab

Gene Symbol

Tacr3

Ensembl Gene

ENSMUSG00000028172

Gene Name

tachykinin receptor 3

Synonyms

Nk3r, Tac3r, neuromedin K receptor

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9423 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134534768-134640340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134638043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 400 (Y400C)

Ref Sequence

ENSEMBL: ENSMUSP00000029822 (fasta)

Gene Model

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

AlphaFold

P47937

Predicted Effect

probably benign
Transcript: ENSMUST00000029822
AA Change: Y400C

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

SMART Domains

Protein: ENSMUSP00000029822
Gene: ENSMUSG00000028172
AA Change: Y400C

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (23/23)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,901,520 (GRCm39)	S959P	probably damaging	Het
Abca13	T	C	11: 9,240,395 (GRCm39)	S753P	probably damaging	Het
Abcb10	A	G	8: 124,688,819 (GRCm39)	S486P		Het
Adamts19	G	T	18: 59,023,427 (GRCm39)	R274L	possibly damaging	Het
Ahcyl1	C	T	3: 107,578,476 (GRCm39)	E254K	probably damaging	Het
Ccdc177	T	G	12: 80,804,162 (GRCm39)	D704A	unknown	Het
Cd200r3	T	C	16: 44,771,895 (GRCm39)	V53A	probably benign	Het
Cdc42bpg	T	C	19: 6,363,329 (GRCm39)	L429P	probably damaging	Het
Cdh23	T	C	10: 60,148,387 (GRCm39)	D2660G	probably damaging	Het
Cfap61	G	T	2: 145,985,155 (GRCm39)	A1000S	probably damaging	Het
Col28a1	T	C	6: 7,999,601 (GRCm39)	T1039A	probably benign	Het
Ctsd	A	G	7: 141,939,212 (GRCm39)	L71P	probably damaging	Het
Dab2ip	C	T	2: 35,599,966 (GRCm39)	T251M	probably damaging	Het
Dcaf8	T	A	1: 172,007,524 (GRCm39)	I331N	probably damaging	Het
Dcp2	C	T	18: 44,538,361 (GRCm39)	R173C	probably damaging	Het
Dgka	C	T	10: 128,557,055 (GRCm39)	C640Y	probably damaging	Het
Entrep3	T	A	3: 89,092,007 (GRCm39)	L155Q	probably damaging	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Gpr141	T	C	13: 19,935,995 (GRCm39)	N260S	probably benign	Het
Htr2a	T	A	14: 74,943,516 (GRCm39)	F365L	probably damaging	Het
Kdm5b	T	C	1: 134,515,705 (GRCm39)	Y110H	possibly damaging	Het
Ktn1	A	G	14: 47,912,318 (GRCm39)	T362A	probably benign	Het
Ltbp1	G	A	17: 75,597,112 (GRCm39)	S581N	probably benign	Het
Nr1h4	C	A	10: 89,309,688 (GRCm39)	R347L	possibly damaging	Het
Or4f60	A	T	2: 111,902,808 (GRCm39)	M40K	possibly damaging	Het
Or8g26	G	T	9: 39,095,838 (GRCm39)	M118I	probably damaging	Het
Parg	T	G	14: 31,939,662 (GRCm39)	F563V	probably damaging	Het
Pfkfb3	T	C	2: 11,487,276 (GRCm39)	Y378C	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Pitpnm2	A	C	5: 124,271,469 (GRCm39)	L368R	probably benign	Het
Pkd1l3	A	G	8: 110,350,312 (GRCm39)	T386A	possibly damaging	Het
Plch2	C	A	4: 155,071,049 (GRCm39)	C1110F		Het
Poc5	T	C	13: 96,547,114 (GRCm39)	V459A	probably damaging	Het
Pou4f3	T	C	18: 42,528,959 (GRCm39)	S301P	probably damaging	Het
Rpf2	T	C	10: 40,101,336 (GRCm39)	D233G	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Samd4b	A	G	7: 28,113,633 (GRCm39)	Y111H	probably benign	Het
Serpinb10	C	T	1: 107,466,179 (GRCm39)	T55M	probably benign	Het
Serpinb1a	C	T	13: 33,026,910 (GRCm39)	C344Y	probably benign	Het
Shprh	T	C	10: 11,081,007 (GRCm39)	V1524A	probably damaging	Het
Sirt1	T	C	10: 63,158,025 (GRCm39)	H463R	probably damaging	Het
Skor2	T	A	18: 76,948,300 (GRCm39)	L674Q	probably damaging	Het
Slc3a2	T	A	19: 8,690,189 (GRCm39)	K201M	possibly damaging	Het
Spata31h1	C	A	10: 82,123,459 (GRCm39)	V3184L	possibly damaging	Het
Stam	C	A	2: 14,146,564 (GRCm39)	Q421K	possibly damaging	Het
Steap4	G	A	5: 8,026,720 (GRCm39)	V228M	probably damaging	Het
Tecpr1	A	G	5: 144,155,396 (GRCm39)	V54A	probably damaging	Het
Tgm3	A	T	2: 129,880,527 (GRCm39)	E444D	probably benign	Het
Trim30a	A	T	7: 104,078,410 (GRCm39)	L222Q	probably damaging	Het
Trmt1l	T	C	1: 151,325,817 (GRCm39)	Y421H	possibly damaging	Het
Usp24	T	C	4: 106,288,867 (GRCm39)	F2500L	probably damaging	Het
Vmn2r54	T	A	7: 12,349,441 (GRCm39)	S714C	probably damaging	Het
Washc5	A	G	15: 59,227,735 (GRCm39)	I409T	probably benign	Het
Zfta	T	C	19: 7,397,624 (GRCm39)	L57P	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
IGL02548:Tacr3	APN	3	134,535,232 (GRCm39)	missense	probably damaging	1.00
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
R9501:Tacr3	UTSW	3	134,535,092 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2022-05-16