Incidental Mutation 'R1480:Tacr1'
ID 164284
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 039533-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R1480 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 82379315-82537085 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 82469511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 132 (M132L)
Ref Sequence ENSEMBL: ENSMUSP00000145217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032122] [ENSMUST00000203775]
AlphaFold P30548
Predicted Effect possibly damaging
Transcript: ENSMUST00000032122
AA Change: M132L

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000032122
Gene: ENSMUSG00000030043
AA Change: M132L

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 43 320 1.1e-8 PFAM
Pfam:7tm_1 49 305 1.5e-58 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203775
AA Change: M132L

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000145217
Gene: ENSMUSG00000030043
AA Change: M132L

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 43 320 1.1e-8 PFAM
Pfam:7tm_1 49 305 1.5e-58 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,323,409 (GRCm39) R126C possibly damaging Het
Abcb9 C A 5: 124,216,889 (GRCm39) A443S probably benign Het
Adcy3 A G 12: 4,262,171 (GRCm39) M1074V probably damaging Het
Adnp A G 2: 168,025,454 (GRCm39) Y614H probably damaging Het
Agbl4 G A 4: 111,423,914 (GRCm39) M313I possibly damaging Het
AI987944 T C 7: 41,024,343 (GRCm39) D212G probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Aplp1 A G 7: 30,135,448 (GRCm39) S537P probably benign Het
Arap2 T A 5: 62,826,472 (GRCm39) R1031* probably null Het
Arid1a A G 4: 133,407,700 (GRCm39) M2269T unknown Het
Ash1l C A 3: 88,892,359 (GRCm39) P1413T probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
B3gnt5 A T 16: 19,588,617 (GRCm39) I279L probably damaging Het
Camkk2 T C 5: 122,872,341 (GRCm39) probably null Het
Ccdc158 T C 5: 92,796,903 (GRCm39) K478E probably damaging Het
Ces1f T C 8: 94,000,782 (GRCm39) I121V probably benign Het
Chad A T 11: 94,455,963 (GRCm39) probably benign Het
Col6a1 T C 10: 76,545,752 (GRCm39) I907V unknown Het
Cpe T A 8: 65,047,969 (GRCm39) T432S probably benign Het
Csmd3 T C 15: 47,595,325 (GRCm39) T1941A possibly damaging Het
Dennd3 G A 15: 73,404,695 (GRCm39) V257I probably benign Het
Dnajc21 T C 15: 10,460,037 (GRCm39) probably null Het
Dqx1 A G 6: 83,036,433 (GRCm39) R146G possibly damaging Het
Etf1 T C 18: 35,042,276 (GRCm39) E261G probably damaging Het
Fermt2 C T 14: 45,699,244 (GRCm39) V617I possibly damaging Het
Gabarap T C 11: 69,882,551 (GRCm39) Y5H probably damaging Het
Gdap1 A G 1: 17,215,781 (GRCm39) Y29C probably damaging Het
Gimap5 A G 6: 48,729,964 (GRCm39) E178G probably damaging Het
Gpatch1 C T 7: 35,002,763 (GRCm39) G249E probably damaging Het
Gse1 T G 8: 121,299,133 (GRCm39) probably benign Het
Kifc3 T C 8: 95,836,515 (GRCm39) D82G probably damaging Het
Kit G A 5: 75,797,977 (GRCm39) D422N probably benign Het
Klhl28 A T 12: 65,003,995 (GRCm39) F173I probably damaging Het
Klk1b22 A G 7: 43,766,278 (GRCm39) D253G possibly damaging Het
Lias T A 5: 65,549,634 (GRCm39) H39Q probably benign Het
Lrp1b T A 2: 40,793,401 (GRCm39) D2504V probably damaging Het
Mgat5 A T 1: 127,387,716 (GRCm39) R557S probably damaging Het
Mrpl54 T C 10: 81,101,489 (GRCm39) T91A probably benign Het
Myh3 T A 11: 66,984,371 (GRCm39) D1069E possibly damaging Het
Nek1 T A 8: 61,577,360 (GRCm39) probably null Het
Nfyc A C 4: 120,625,921 (GRCm39) probably null Het
Nol7 A T 13: 43,552,104 (GRCm39) E75V probably damaging Het
Nomo1 T A 7: 45,710,337 (GRCm39) V606E probably damaging Het
Npat TGGTAAAA T 9: 53,474,366 (GRCm39) probably null Het
Nt5c1b A G 12: 10,424,886 (GRCm39) E142G probably damaging Het
Ogdh A T 11: 6,297,827 (GRCm39) probably null Het
Or1o4 A G 17: 37,590,636 (GRCm39) V225A probably benign Het
Parg A T 14: 31,931,585 (GRCm39) K402* probably null Het
Patj G A 4: 98,357,819 (GRCm39) G695E probably damaging Het
Pde3a G A 6: 141,433,300 (GRCm39) S777N probably benign Het
Phactr2 G A 10: 13,129,536 (GRCm39) P174L possibly damaging Het
Phtf1 C T 3: 103,894,750 (GRCm39) R113* probably null Het
Pik3r4 G T 9: 105,564,443 (GRCm39) V1346L probably benign Het
Prkcb T C 7: 122,193,865 (GRCm39) W525R probably damaging Het
Prl8a1 C T 13: 27,758,055 (GRCm39) R218H possibly damaging Het
Pum3 T C 19: 27,376,310 (GRCm39) E536G probably benign Het
Rb1 T C 14: 73,500,042 (GRCm39) N535S probably benign Het
Rbm7 G T 9: 48,401,016 (GRCm39) D237E probably benign Het
Ripor1 T C 8: 106,342,180 (GRCm39) V122A probably damaging Het
Sdhc C T 1: 170,973,370 (GRCm39) R11H probably benign Het
Sema3c A G 5: 17,887,029 (GRCm39) N360S possibly damaging Het
Serpinb5 T A 1: 106,809,437 (GRCm39) M281K probably benign Het
Serpinc1 A G 1: 160,822,889 (GRCm39) E210G probably benign Het
Shoc2 T C 19: 53,976,202 (GRCm39) S31P probably benign Het
Sult2a3 T A 7: 13,856,836 (GRCm39) N28I possibly damaging Het
Svil C T 18: 5,057,345 (GRCm39) P598S probably damaging Het
Tacc3 G A 5: 33,821,941 (GRCm39) V234I probably benign Het
Tas2r104 C A 6: 131,662,257 (GRCm39) V151F probably benign Het
Tbc1d10b C T 7: 126,802,950 (GRCm39) S326N probably benign Het
Trim12c C T 7: 103,997,451 (GRCm39) C35Y probably damaging Het
Trrap T C 5: 144,755,123 (GRCm39) I2067T probably benign Het
Upk1a T C 7: 30,306,311 (GRCm39) I152V probably benign Het
Vmn2r39 T G 7: 9,017,955 (GRCm39) T794P probably damaging Het
Wnk2 G A 13: 49,210,708 (GRCm39) P1704S probably damaging Het
Zfp609 T C 9: 65,610,593 (GRCm39) E790G possibly damaging Het
Zmym1 G T 4: 126,942,405 (GRCm39) T563K probably damaging Het
Zranb1 T A 7: 132,551,745 (GRCm39) F132Y probably benign Het
Zranb3 C T 1: 128,019,599 (GRCm39) A48T probably damaging Het
Other mutations in Tacr1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- ACAGGAGGACCTGAGTTAGTCCAC -3'
(R):5'- TCAATCATGCACACTACTCTGCTGG -3'

Sequencing Primer
(F):5'- caggcagagtcaggcag -3'
(R):5'- ACTACTCTGCTGGGCATGG -3'
Posted On 2014-03-28