Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02506:Tacr1'

296338

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL02506

Quality Score

Status

Chromosome

Chromosomal Location

82379315-82537085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82380739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 50 (N50S)

Ref Sequence

ENSEMBL: ENSMUSP00000145217 (fasta)

Gene Model

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

AlphaFold

P30548

Predicted Effect

probably damaging
Transcript: ENSMUST00000032122
AA Change: N50S

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

SMART Domains

Protein: ENSMUSP00000032122
Gene: ENSMUSG00000030043
AA Change: N50S

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: N50S

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

SMART Domains

Protein: ENSMUSP00000145217
Gene: ENSMUSG00000030043
AA Change: N50S

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

noncoding transcript
Transcript: ENSMUST00000205041

Coding Region Coverage

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	G	17: 84,999,916 (GRCm39)	E189G	possibly damaging	Het
Acad11	T	C	9: 103,968,931 (GRCm39)		probably null	Het
Adcy7	G	T	8: 89,044,571 (GRCm39)	R488L	probably damaging	Het
Akt1	C	T	12: 112,625,714 (GRCm39)		probably benign	Het
Ano9	C	T	7: 140,682,167 (GRCm39)		probably benign	Het
Arhgap15	A	G	2: 43,953,820 (GRCm39)	D182G	possibly damaging	Het
Asxl3	T	A	18: 22,585,456 (GRCm39)	V127D	probably benign	Het
Cacna1g	A	G	11: 94,319,955 (GRCm39)	M1407T	probably damaging	Het
Card9	A	C	2: 26,244,427 (GRCm39)		probably benign	Het
Cdh5	A	G	8: 104,864,454 (GRCm39)	N472D	probably damaging	Het
Ceacam2	T	A	7: 25,227,379 (GRCm39)	T343S	probably benign	Het
Cic	T	A	7: 24,990,282 (GRCm39)	C1928S	probably benign	Het
Clk3	C	T	9: 57,661,927 (GRCm39)	W31*	probably null	Het
Cntn4	A	G	6: 106,595,349 (GRCm39)	T489A	probably benign	Het
Crispld1	G	A	1: 17,826,529 (GRCm39)	R431H	probably damaging	Het
Crmp1	T	A	5: 37,436,199 (GRCm39)		probably benign	Het
Cyld	A	G	8: 89,456,218 (GRCm39)	T423A	possibly damaging	Het
Cyp3a44	A	T	5: 145,736,198 (GRCm39)	I84N	probably damaging	Het
D2hgdh	A	G	1: 93,757,507 (GRCm39)	N141D	probably damaging	Het
Dip2b	T	A	15: 100,055,162 (GRCm39)	L341Q	probably damaging	Het
F3	C	T	3: 121,525,323 (GRCm39)	T53I	possibly damaging	Het
Fam227b	T	A	2: 125,845,831 (GRCm39)	Y386F	probably benign	Het
Fmn1	A	T	2: 113,355,640 (GRCm39)	T694S	unknown	Het
Gcnt2	T	A	13: 41,040,856 (GRCm39)	V5E	probably benign	Het
Herpud1	G	T	8: 95,121,270 (GRCm39)	E355*	probably null	Het
Igf1r	T	C	7: 67,843,144 (GRCm39)	S752P	probably benign	Het
Iqsec1	T	C	6: 90,649,057 (GRCm39)	I687V	possibly damaging	Het
Kdm5a	T	C	6: 120,409,110 (GRCm39)	S1598P	probably damaging	Het
Klk1b9	A	G	7: 43,445,063 (GRCm39)	E185G	probably benign	Het
Myo16	G	T	8: 10,440,217 (GRCm39)	R423L	probably damaging	Het
Myo7b	T	C	18: 32,100,207 (GRCm39)	E1609G	probably damaging	Het
Nom1	T	A	5: 29,644,814 (GRCm39)		probably benign	Het
Nomo1	A	G	7: 45,727,480 (GRCm39)	I1040V	possibly damaging	Het
Or8b39	G	A	9: 37,996,741 (GRCm39)	G203D	probably damaging	Het
Paqr9	T	C	9: 95,442,748 (GRCm39)	V246A	probably benign	Het
Pfkfb4	A	T	9: 108,859,404 (GRCm39)	D437V	probably benign	Het
Phldb1	G	T	9: 44,622,223 (GRCm39)	D797E	probably benign	Het
Pkd1l3	A	G	8: 110,374,132 (GRCm39)	E1399G	probably damaging	Het
Plekhs1	G	A	19: 56,460,198 (GRCm39)	C97Y	probably damaging	Het
Plscr4	A	T	9: 92,372,044 (GRCm39)	I272L	possibly damaging	Het
Prlhr	A	C	19: 60,456,366 (GRCm39)	Y67D	probably damaging	Het
Rab3gap2	A	G	1: 184,984,221 (GRCm39)		probably benign	Het
Rad23b	T	C	4: 55,382,511 (GRCm39)	V238A	probably benign	Het
Sel1l2	T	C	2: 140,117,380 (GRCm39)	T164A	possibly damaging	Het
Serpinh1	T	A	7: 98,996,199 (GRCm39)	K295M	probably damaging	Het
Slc45a4	T	C	15: 73,453,687 (GRCm39)	E770G	probably benign	Het
Spag4	T	C	2: 155,911,142 (GRCm39)	L390P	probably damaging	Het
Stip1	A	G	19: 7,012,857 (GRCm39)		probably benign	Het
Tg	T	C	15: 66,613,443 (GRCm39)	V433A	possibly damaging	Het
Ubap1l	T	A	9: 65,276,493 (GRCm39)		probably benign	Het
Usp40	A	T	1: 87,909,738 (GRCm39)	I572K	probably damaging	Het
Vps13b	G	T	15: 35,917,308 (GRCm39)	E3717D	probably damaging	Het
Wdr81	T	C	11: 75,335,232 (GRCm39)	N1778S	probably benign	Het
Ylpm1	T	A	12: 85,095,965 (GRCm39)	F1162Y	probably damaging	Het
Zbtb10	T	A	3: 9,330,297 (GRCm39)	F552I	probably damaging	Het
Zfp507	T	C	7: 35,475,891 (GRCm39)	I811V	probably damaging	Het
Zfp663	A	T	2: 165,195,871 (GRCm39)	V116D	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
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
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

Posted On

2015-04-16