Mutagenetix > Incidental Mutation

Incidental Mutation 'R8717:Tacr1'

669944

Institutional Source

Beutler Lab

Gene Symbol

Tacr1

Ensembl Gene

ENSMUSG00000030043

Gene Name

tachykinin receptor 1

Synonyms

NK1-R, Tac1r, SPr, neurokinin receptor 1, NK-1R, NK1 receptor, substance p receptor

MMRRC Submission

068570-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R8717 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82379315-82537085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82380706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 39 (Y39C)

Ref Sequence

ENSEMBL: ENSMUSP00000032122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032122] [ENSMUST00000203775]

AlphaFold

P30548

Predicted Effect

probably damaging
Transcript: ENSMUST00000032122
AA Change: Y39C

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

SMART Domains

Protein: ENSMUSP00000032122
Gene: ENSMUSG00000030043
AA Change: Y39C

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	43	320	1.1e-8	PFAM
Pfam:7tm_1	49	305	1.5e-58	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203775
AA Change: Y39C

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

SMART Domains

Protein: ENSMUSP00000145217
Gene: ENSMUSG00000030043
AA Change: Y39C

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	43	320	1.1e-8	PFAM
Pfam:7tm_1	49	305	1.5e-58	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: This gene encodes the receptor for the tachykinin, substance P, also referred to as neurokinin 1. This gene belongs to a gene family of tachykinin receptors which are characterized by interactions with G proteins and contain seven hydrophobic transmembrane regions. This receptor has been associated with nitric oxide formation, and it has been localized to cholinergic and nitrergic neurons as well as on smooth muscle cells. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced anxiety, pain and stress-related responses, reduced immunological response after a viral challenge, and reduced inflammatory responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,543,958 (GRCm39)	F528L	probably benign	Het
Aadacl3	T	G	4: 144,182,778 (GRCm39)	D230A	probably damaging	Het
Adgrf3	T	A	5: 30,403,579 (GRCm39)		probably benign	Het
Agtr1a	A	C	13: 30,565,357 (GRCm39)	T141P	probably damaging	Het
Ankfy1	T	A	11: 72,621,300 (GRCm39)	D195E	probably benign	Het
AY074887	G	A	9: 54,857,786 (GRCm39)	T113I	probably damaging	Het
Cacna1c	G	A	6: 119,034,314 (GRCm39)	A71V		Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cntrl	T	A	2: 35,003,351 (GRCm39)	V78E	probably benign	Het
Cyp2c67	T	A	19: 39,627,155 (GRCm39)	Y225F	probably benign	Het
Cyp2j13	T	A	4: 95,933,777 (GRCm39)	H369L	probably benign	Het
Dagla	T	C	19: 10,225,587 (GRCm39)	E859G	probably benign	Het
Duox1	C	A	2: 122,168,152 (GRCm39)	S1092R	possibly damaging	Het
Elfn2	C	A	15: 78,556,561 (GRCm39)	S662I	probably benign	Het
Epor	A	T	9: 21,870,741 (GRCm39)	C380S	probably benign	Het
Fsd2	T	C	7: 81,190,090 (GRCm39)	E564G	probably benign	Het
Hace1	C	T	10: 45,481,694 (GRCm39)	T117I	unknown	Het
Ift172	A	G	5: 31,412,985 (GRCm39)	M1488T	probably benign	Het
Insyn1	A	G	9: 58,406,623 (GRCm39)	T178A	probably damaging	Het
Kdm3b	A	G	18: 34,952,840 (GRCm39)	E1070G	probably damaging	Het
Lrp6	A	G	6: 134,434,711 (GRCm39)	F1331L	probably benign	Het
Lrrc74a	G	A	12: 86,783,253 (GRCm39)	E33K	probably damaging	Het
Magel2	T	C	7: 62,027,420 (GRCm39)	M108T	unknown	Het
Mief1	T	C	15: 80,132,584 (GRCm39)	S127P	probably benign	Het
Mprip	T	C	11: 59,650,526 (GRCm39)	V1410A	probably benign	Het
Muc1	G	A	3: 89,138,821 (GRCm39)	V477M	possibly damaging	Het
Nat8f3	A	T	6: 85,738,687 (GRCm39)	M25K	possibly damaging	Het
Neb	T	G	2: 52,073,781 (GRCm39)	H5942P	probably damaging	Het
Nf2	A	T	11: 4,766,099 (GRCm39)	Y144N	probably damaging	Het
Nipbl	T	A	15: 8,368,225 (GRCm39)	M1166L	probably benign	Het
Npnt	A	T	3: 132,614,136 (GRCm39)	L206Q	probably damaging	Het
Or10ak13	T	C	4: 118,638,996 (GRCm39)	Y262C	probably damaging	Het
Or4g7	A	G	2: 111,309,992 (GRCm39)	T288A	probably damaging	Het
Or6c65	T	A	10: 129,604,127 (GRCm39)	I254N	probably damaging	Het
Parg	A	G	14: 31,932,492 (GRCm39)	K444R	probably benign	Het
Pcbp4	A	T	9: 106,337,202 (GRCm39)		probably null	Het
Pcdhgb4	A	G	18: 37,853,847 (GRCm39)	S81G	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekho2	T	C	9: 65,464,058 (GRCm39)	N264D	probably benign	Het
Pmpca	T	A	2: 26,281,893 (GRCm39)	M182K	probably damaging	Het
Prdm10	A	G	9: 31,252,695 (GRCm39)	H476R	probably benign	Het
Prxl2a	G	A	14: 40,720,836 (GRCm39)	P126S	possibly damaging	Het
Rab7	T	C	6: 87,989,369 (GRCm39)	S34G	probably damaging	Het
Rbp3	G	A	14: 33,678,395 (GRCm39)	R781H	probably damaging	Het
Rngtt	T	A	4: 33,368,695 (GRCm39)	S409R	probably damaging	Het
Ryr1	C	A	7: 28,751,753 (GRCm39)	R3680L	probably benign	Het
Sbno1	T	C	5: 124,512,618 (GRCm39)	S1384G	possibly damaging	Het
Shmt1	T	C	11: 60,685,763 (GRCm39)	D271G	probably benign	Het
Sin3a	C	T	9: 57,034,510 (GRCm39)	R1228W	probably damaging	Het
Slc25a39	T	C	11: 102,294,620 (GRCm39)	R294G	probably benign	Het
Smcr8	T	A	11: 60,670,254 (GRCm39)	S467R	probably damaging	Het
Spaca7	A	G	8: 12,636,480 (GRCm39)	Y102C	probably damaging	Het
Tenm3	G	A	8: 48,752,680 (GRCm39)	S894L	possibly damaging	Het
Tmem115	T	A	9: 107,415,132 (GRCm39)	M307K	possibly damaging	Het
Tnn	A	G	1: 159,943,846 (GRCm39)	V989A	possibly damaging	Het
Trabd2b	T	A	4: 114,460,186 (GRCm39)	N441K	probably damaging	Het
Ttll1	T	C	15: 83,373,709 (GRCm39)	K368R	probably benign	Het
Tubgcp2	C	T	7: 139,576,705 (GRCm39)	V858I	probably benign	Het
Ufsp2	G	T	8: 46,436,614 (GRCm39)	V122L	probably benign	Het
Wdr26	A	G	1: 181,011,913 (GRCm39)	C470R	possibly damaging	Het
Xab2	T	C	8: 3,663,845 (GRCm39)	H358R	probably benign	Het
Xrcc5	A	G	1: 72,422,905 (GRCm39)	I697V	probably benign	Het

Other mutations in Tacr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01377:Tacr1	APN	6	82,380,636 (GRCm39)	missense	probably benign	0.01
IGL01875:Tacr1	APN	6	82,533,997 (GRCm39)	missense	probably benign	0.18
IGL02092:Tacr1	APN	6	82,380,900 (GRCm39)	missense	probably damaging	1.00
IGL02506:Tacr1	APN	6	82,380,739 (GRCm39)	missense	probably damaging	1.00
IGL02651:Tacr1	APN	6	82,469,622 (GRCm39)	missense	probably damaging	0.98
R0627:Tacr1	UTSW	6	82,532,012 (GRCm39)	missense	possibly damaging	0.93
R0732:Tacr1	UTSW	6	82,529,882 (GRCm39)	missense	probably damaging	1.00
R1279:Tacr1	UTSW	6	82,534,164 (GRCm39)	nonsense	probably null
R1292:Tacr1	UTSW	6	82,531,856 (GRCm39)	missense	probably damaging	0.98
R1480:Tacr1	UTSW	6	82,469,511 (GRCm39)	missense	possibly damaging	0.47
R1595:Tacr1	UTSW	6	82,380,723 (GRCm39)	missense	probably benign	0.05
R2061:Tacr1	UTSW	6	82,469,535 (GRCm39)	missense	probably damaging	0.96
R2260:Tacr1	UTSW	6	82,380,756 (GRCm39)	missense	probably damaging	1.00
R2697:Tacr1	UTSW	6	82,469,578 (GRCm39)	missense	probably damaging	1.00
R2941:Tacr1	UTSW	6	82,380,715 (GRCm39)	missense	probably damaging	1.00
R4629:Tacr1	UTSW	6	82,380,861 (GRCm39)	missense	probably benign	0.02
R4780:Tacr1	UTSW	6	82,534,053 (GRCm39)	missense	probably benign
R4916:Tacr1	UTSW	6	82,531,922 (GRCm39)	missense	probably benign	0.00
R5065:Tacr1	UTSW	6	82,531,859 (GRCm39)	missense	possibly damaging	0.94
R5801:Tacr1	UTSW	6	82,534,134 (GRCm39)	missense	probably benign	0.04
R6919:Tacr1	UTSW	6	82,534,054 (GRCm39)	missense	probably benign	0.03
R6941:Tacr1	UTSW	6	82,380,846 (GRCm39)	missense	possibly damaging	0.75
R7269:Tacr1	UTSW	6	82,469,692 (GRCm39)	missense	probably benign
R8912:Tacr1	UTSW	6	82,534,014 (GRCm39)	missense	probably damaging	0.99
R9334:Tacr1	UTSW	6	82,380,913 (GRCm39)	missense	probably damaging	0.99
R9344:Tacr1	UTSW	6	82,380,847 (GRCm39)	missense	probably damaging	1.00
R9454:Tacr1	UTSW	6	82,531,853 (GRCm39)	missense	probably damaging	1.00
R9745:Tacr1	UTSW	6	82,469,619 (GRCm39)	missense	possibly damaging	0.88
Z1177:Tacr1	UTSW	6	82,531,978 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TAGCAGGACTCAAGCCTCAG -3'
(R):5'- GGACTGCGTAGGTGAAGTTC -3'

Sequencing Primer
(F):5'- TCTGCGACAAGGTCCTACAG -3'
(R):5'- GTTCACCACTGTATTGAATGCAGC -3'

Posted On

2021-04-30