Incidental Mutation 'R2910:Tac1'
ID 261185
Institutional Source Beutler Lab
Gene Symbol Tac1
Ensembl Gene ENSMUSG00000061762
Gene Name tachykinin 1
Synonyms 4930528L02Rik, SP, Nkna, NK-1, PPTA, neurokinin 1, substance P, NK1, PPT-A, preprotachykinin A, neurokinin A
MMRRC Submission 040497-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.225) question?
Stock # R2910 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 7555061-7562978 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 7559097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090679] [ENSMUST00000184986] [ENSMUST00000185130] [ENSMUST00000185187]
AlphaFold P41539
Predicted Effect probably benign
Transcript: ENSMUST00000090679
SMART Domains Protein: ENSMUSP00000088175
Gene: ENSMUSG00000061762

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
TK 58 68 1.88e0 SMART
TK 97 107 1.36e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184481
Predicted Effect probably null
Transcript: ENSMUST00000184986
SMART Domains Protein: ENSMUSP00000138818
Gene: ENSMUSG00000061762

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
TK 58 68 1.88e0 SMART
TK 82 92 1.36e1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000185130
Predicted Effect probably null
Transcript: ENSMUST00000185187
SMART Domains Protein: ENSMUSP00000139347
Gene: ENSMUSG00000061762

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
TK 58 68 1.88e0 SMART
TK 97 107 1.36e1 SMART
Meta Mutation Damage Score 0.9494 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 96% (49/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes four products of the tachykinin peptide hormone family, substance P and neurokinin A, as well as the related peptides, neuropeptide K and neuropeptide gamma. These hormones are thought to function as neurotransmitters which interact with nerve receptors and smooth muscle cells. They are known to induce behavioral responses and function as vasodilators and secretagogues. Substance P is an antimicrobial peptide with antibacterial and antifungal properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit absence of agonist-induced hyperalgesia and an impaired response to chemical irritation of the urinary tract. Mice homozygous for a different knock-out allele display hypoalgesia, and reduced anxiety- and depression-related behaviors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,378,982 (GRCm39) T645A probably damaging Het
Acap1 A G 11: 69,777,902 (GRCm39) probably benign Het
Adgrv1 G A 13: 81,705,238 (GRCm39) A1524V possibly damaging Het
Agbl1 A G 7: 76,069,586 (GRCm39) N121D probably benign Het
Ahnak A G 19: 8,989,018 (GRCm39) D3434G probably damaging Het
Ankrd11 A T 8: 123,635,537 (GRCm39) D32E probably damaging Het
Asxl1 T C 2: 153,242,959 (GRCm39) S1170P probably benign Het
Atp8b3 G A 10: 80,355,746 (GRCm39) S1322F possibly damaging Het
Car15 G A 16: 17,656,006 (GRCm39) probably benign Het
Cep104 T A 4: 154,079,884 (GRCm39) probably null Het
Cnnm1 A G 19: 43,458,086 (GRCm39) I633V possibly damaging Het
Cog8 A T 8: 107,780,853 (GRCm39) V135E probably benign Het
Cts6 A G 13: 61,344,215 (GRCm39) V279A probably damaging Het
Ddx1 C T 12: 13,281,441 (GRCm39) probably null Het
Dock2 A G 11: 34,182,910 (GRCm39) probably benign Het
Ero1b T A 13: 12,615,178 (GRCm39) D336E probably damaging Het
F11 C G 8: 45,694,486 (GRCm39) *625S probably null Het
F5 A G 1: 164,032,389 (GRCm39) M1779V probably benign Het
Fam227a A T 15: 79,520,935 (GRCm39) D296E possibly damaging Het
Fbxo38 T C 18: 62,652,878 (GRCm39) D523G probably benign Het
Ggt1 G A 10: 75,416,430 (GRCm39) V275M probably benign Het
Gm379 A C X: 107,708,371 (GRCm39) F43V possibly damaging Het
Grhl3 T C 4: 135,286,457 (GRCm39) I75V probably benign Het
Iqcm A T 8: 76,441,404 (GRCm39) I226F probably benign Het
Kcnq1 T G 7: 142,979,699 (GRCm39) L615R probably damaging Het
Lcp2 G A 11: 34,018,970 (GRCm39) probably null Het
Lypd8l G A 11: 58,499,252 (GRCm39) Q189* probably null Het
Mbtps1 A G 8: 120,272,776 (GRCm39) I123T possibly damaging Het
Muc5ac C T 7: 141,361,378 (GRCm39) T1563I probably damaging Het
Odf2l A C 3: 144,830,084 (GRCm39) I19L probably benign Het
Or5ak23 T A 2: 85,244,695 (GRCm39) H176L probably damaging Het
Or5h25 C T 16: 58,930,544 (GRCm39) R143H probably benign Het
Pigr A G 1: 130,777,270 (GRCm39) D692G probably damaging Het
Pkd1l3 A G 8: 110,394,268 (GRCm39) probably benign Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 106,103,084 (GRCm39) probably benign Het
Reep2 T C 18: 34,978,743 (GRCm39) probably null Het
Rubcnl C T 14: 75,278,248 (GRCm39) T344I probably benign Het
Sema6d C A 2: 124,506,957 (GRCm39) P941T probably damaging Het
Shcbp1l C A 1: 153,304,372 (GRCm39) L144I probably damaging Het
Slc7a1 T C 5: 148,289,067 (GRCm39) E60G probably benign Het
Snx2 C T 18: 53,332,946 (GRCm39) P207S probably damaging Het
Spata31 T G 13: 65,068,250 (GRCm39) S133A probably benign Het
Tfpi A C 2: 84,274,437 (GRCm39) V184G possibly damaging Het
Tmeff1 C A 4: 48,614,961 (GRCm39) N139K possibly damaging Het
Tnxb A G 17: 34,891,424 (GRCm39) D589G probably damaging Het
Trpc1 C A 9: 95,631,895 (GRCm39) A16S probably benign Het
Vmn2r106 A C 17: 20,498,946 (GRCm39) L322V probably damaging Het
Vmn2r69 G T 7: 85,055,918 (GRCm39) A740D probably damaging Het
Other mutations in Tac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02342:Tac1 APN 6 7,559,119 (GRCm39) splice site probably null
IGL02830:Tac1 APN 6 7,555,650 (GRCm39) missense probably benign 0.00
IGL02926:Tac1 APN 6 7,562,410 (GRCm39) missense possibly damaging 0.95
R0189:Tac1 UTSW 6 7,562,424 (GRCm39) missense probably damaging 1.00
R0265:Tac1 UTSW 6 7,559,165 (GRCm39) splice site probably benign
R0612:Tac1 UTSW 6 7,555,653 (GRCm39) missense probably damaging 1.00
R2911:Tac1 UTSW 6 7,559,097 (GRCm39) critical splice acceptor site probably null
R4547:Tac1 UTSW 6 7,557,216 (GRCm39) missense probably damaging 1.00
R9005:Tac1 UTSW 6 7,559,141 (GRCm39) missense possibly damaging 0.87
R9666:Tac1 UTSW 6 7,555,675 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- GGTGCTCACAATATGGGTTTC -3'
(R):5'- ATCAGTGCACTCGTGGCTAC -3'

Sequencing Primer
(F):5'- CTCACAATATGGGTTTCAGCATGG -3'
(R):5'- GGCTACAGACACTATGAACATTTGTC -3'
Posted On 2015-01-23