Mutagenetix > Incidental Mutation

Incidental Mutation 'R9334:Tacr1'

706987

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

Accession Numbers

Essential gene?

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

Stock #

R9334 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82379315-82537085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82380913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 108 (H108L)

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: H108L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032122
Gene: ENSMUSG00000030043
AA Change: H108L

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: H108L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145217
Gene: ENSMUSG00000030043
AA Change: H108L

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: 99.8%
20x: 99.5%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1b	A	T	1: 36,739,251 (GRCm39)	I346N	probably damaging	Het
Adam6b	A	C	12: 113,454,768 (GRCm39)	E528D	probably damaging	Het
Ang	A	G	14: 51,339,017 (GRCm39)	M53V	possibly damaging	Het
Ankrd26	G	A	6: 118,509,262 (GRCm39)	A601V	probably benign	Het
Atp6v0d2	A	G	4: 19,890,695 (GRCm39)	L155P	probably damaging	Het
Cacna1a	T	C	8: 85,296,594 (GRCm39)	V1204A	probably damaging	Het
Car4	A	G	11: 84,855,415 (GRCm39)	I183V	probably benign	Het
Ccdc149	G	T	5: 52,578,171 (GRCm39)	A87E	possibly damaging	Het
Ccdc88b	A	G	19: 6,833,541 (GRCm39)	M208T	possibly damaging	Het
Ccnt2	T	C	1: 127,723,046 (GRCm39)	L162S	probably damaging	Het
Cd27	A	G	6: 125,213,718 (GRCm39)		probably null	Het
Cfap44	C	A	16: 44,239,654 (GRCm39)	T567K	probably damaging	Het
Cpne5	C	T	17: 29,423,673 (GRCm39)	V152M	probably benign	Het
Cyp2u1	C	T	3: 131,092,065 (GRCm39)	V152M	probably damaging	Het
Dnajc13	A	T	9: 104,051,659 (GRCm39)	F1733I	probably benign	Het
Dop1a	A	G	9: 86,403,027 (GRCm39)	Y1409C	probably damaging	Het
Ecm2	T	C	13: 49,677,815 (GRCm39)	M367T	probably benign	Het
Eif4g2	A	G	7: 110,674,031 (GRCm39)	S658P	possibly damaging	Het
Exoc3l4	T	C	12: 111,397,117 (GRCm39)	L666P	probably damaging	Het
Fbxl4	G	A	4: 22,376,778 (GRCm39)	M71I	probably damaging	Het
Fbxw10	T	C	11: 62,765,910 (GRCm39)	S727P	possibly damaging	Het
Fem1b	A	T	9: 62,703,604 (GRCm39)	L552*	probably null	Het
Filip1	A	T	9: 79,725,739 (GRCm39)	V960D	probably benign	Het
Glipr1l3	A	T	10: 111,979,948 (GRCm39)	M198K	probably benign	Het
Gm19410	T	A	8: 36,270,722 (GRCm39)	C1216*	probably null	Het
Gmps	T	A	3: 63,889,864 (GRCm39)	V81E	probably damaging	Het
Gpr150	G	T	13: 76,204,103 (GRCm39)	Q281K	probably benign	Het
Grsf1	A	G	5: 88,820,469 (GRCm39)	V221A	probably damaging	Het
Gsc	T	A	12: 104,439,353 (GRCm39)	I8F	probably damaging	Het
Homer2	A	T	7: 81,261,078 (GRCm39)	C284*	probably null	Het
Hrg	T	A	16: 22,780,061 (GRCm39)	H446Q	unknown	Het
Jag1	C	T	2: 136,943,593 (GRCm39)	R201H	probably damaging	Het
Kctd15	C	T	7: 34,341,483 (GRCm39)	R148H	possibly damaging	Het
Klhdc7a	G	A	4: 139,693,493 (GRCm39)	R485C	probably benign	Het
Ldhd	T	A	8: 112,353,980 (GRCm39)	I407F	probably benign	Het
Lgals12	G	A	19: 7,578,086 (GRCm39)	R192C	probably benign	Het
Lmf2	G	A	15: 89,239,577 (GRCm39)	L26F	probably damaging	Het
Lum	A	T	10: 97,404,347 (GRCm39)	I81F	probably damaging	Het
Map1b	G	T	13: 99,568,148 (GRCm39)	D1524E	unknown	Het
Marveld3	A	G	8: 110,675,036 (GRCm39)	L260S	probably damaging	Het
Mms19	C	T	19: 41,942,203 (GRCm39)	R555H	probably benign	Het
Mrpl37	G	A	4: 106,921,605 (GRCm39)	T208I	probably benign	Het
Mug1	A	T	6: 121,838,490 (GRCm39)	T498S	probably benign	Het
Myo3b	T	C	2: 70,047,360 (GRCm39)	C289R	probably damaging	Het
Myo7a	A	T	7: 97,716,369 (GRCm39)	F1459Y	probably damaging	Het
Neurl4	C	A	11: 69,796,792 (GRCm39)	R518S	probably damaging	Het
Nmnat2	T	G	1: 152,949,585 (GRCm39)	V43G	probably damaging	Het
Or2b11	T	C	11: 59,462,272 (GRCm39)	Y98C	probably damaging	Het
Or2n1b	T	A	17: 38,459,840 (GRCm39)	F120L	probably benign	Het
Or6c6c	A	G	10: 129,541,683 (GRCm39)	N312S	probably benign	Het
Otog	A	G	7: 45,909,353 (GRCm39)	T608A	possibly damaging	Het
Pck2	G	A	14: 55,785,283 (GRCm39)	R482Q	probably damaging	Het
Pcx	G	A	19: 4,670,532 (GRCm39)	M1013I	probably benign	Het
Pex13	A	G	11: 23,605,630 (GRCm39)	M200T	probably benign	Het
Pigt	CCGTGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC	CCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGTGCCCGTGGTGTACCCCCTCTCTAGTCCTGTGAGCCCGTGGTGTACCCCCTCTCTAGTCCGGCGCGCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCATGGTGTGCCCCCTCTCTAGTCCGGCGCTCCCGTGGTGTGCCCCCTCTCTAGTCCGGCGAGCCCGTGGTGTGCCCCCTCTCTAGTCC	2: 164,349,420 (GRCm39)		probably null	Het
Pramel32	A	T	4: 88,548,186 (GRCm39)	I73K	probably damaging	Het
Ptpn4	T	C	1: 119,730,114 (GRCm39)	H26R	probably benign	Het
Ralgps2	T	A	1: 156,715,599 (GRCm39)	E72V	probably damaging	Het
Relch	T	A	1: 105,654,179 (GRCm39)	F873L	possibly damaging	Het
Scube1	A	T	15: 83,512,264 (GRCm39)	C396S	possibly damaging	Het
Sec23b	T	A	2: 144,410,550 (GRCm39)	N283K	possibly damaging	Het
Setx	T	A	2: 29,044,032 (GRCm39)	Y1800*	probably null	Het
Sgce	G	T	6: 4,707,205 (GRCm39)	S213R	probably damaging	Het
Skic3	C	A	13: 76,281,076 (GRCm39)	T704N	possibly damaging	Het
Slc36a2	T	C	11: 55,075,865 (GRCm39)		probably benign	Het
Sult5a1	A	T	8: 123,875,146 (GRCm39)	D129E	probably damaging	Het
Tnfsf10	T	A	3: 27,389,496 (GRCm39)	Y186N	probably damaging	Het
Unc80	T	C	1: 66,688,919 (GRCm39)	S2428P	possibly damaging	Het
Vwf	G	A	6: 125,654,909 (GRCm39)	R2535H		Het
Zfp532	A	G	18: 65,756,128 (GRCm39)	I20M	probably damaging	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
R8717:Tacr1	UTSW	6	82,380,706 (GRCm39)	missense	probably damaging	1.00
R8912:Tacr1	UTSW	6	82,534,014 (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'- CAAATTGTCCTTTGGGCAGC -3'
(R):5'- ATGGACGCACAGTGTGGTTC -3'

Sequencing Primer
(F):5'- CGGTCATCGTGGTGACTTCC -3'
(R):5'- CACAGTGTGGTTCTCTGGCTAC -3'

Posted On

2022-04-18