Incidental Mutation 'IGL01552:Tac2'
ID 90613
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tac2
Ensembl Gene ENSMUSG00000025400
Gene Name tachykinin 2
Synonyms substance K, neurokinin A, neurokinin 2, neuropeptide K, neurokinin alpha, neuromedin L
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL01552
Quality Score
Status
Chromosome 10
Chromosomal Location 127560347-127567637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 127561970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 25 (E25K)
Ref Sequence ENSEMBL: ENSMUSP00000136622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026466] [ENSMUST00000179960]
AlphaFold P55099
Predicted Effect possibly damaging
Transcript: ENSMUST00000026466
AA Change: E25K

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026466
Gene: ENSMUSG00000025400
AA Change: E25K

DomainStartEndE-ValueType
Pfam:Neurokinin_B 1 55 3.1e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000179960
AA Change: E25K

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136622
Gene: ENSMUSG00000025400
AA Change: E25K

DomainStartEndE-ValueType
Pfam:Neurokinin_B 1 54 2.7e-31 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217729
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218048
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the tachykinin family of signaling peptides that is widely expressed in the central nervous system and plays a role in diverse processes such as water homeostasis, pulmonary inflammation, cognition, fear memory consolidation and preeclampsia. The encoded protein is enzymatically processed to generate the mature neuropeptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit delayed female sexual maturation and fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl8a T C 1: 135,080,606 (GRCm39) probably null Het
Bivm A G 1: 44,165,933 (GRCm39) N128D probably benign Het
Cfhr4 A G 1: 139,667,040 (GRCm39) Y412H probably damaging Het
Chil3 C A 3: 106,056,164 (GRCm39) G330V probably damaging Het
Dscaml1 A G 9: 45,359,206 (GRCm39) H155R probably damaging Het
Elapor1 A G 3: 108,388,628 (GRCm39) W252R possibly damaging Het
Etl4 T A 2: 20,783,000 (GRCm39) V687D probably damaging Het
Fbxw10 A T 11: 62,748,510 (GRCm39) probably null Het
Gfpt2 G T 11: 49,695,832 (GRCm39) E21* probably null Het
Gm10197 C T 19: 53,360,122 (GRCm39) V26I possibly damaging Het
Golim4 T C 3: 75,863,502 (GRCm39) E35G probably damaging Het
Igdcc4 A G 9: 65,029,784 (GRCm39) probably benign Het
Ino80d A G 1: 63,097,136 (GRCm39) probably benign Het
Ipo13 A G 4: 117,758,161 (GRCm39) M734T probably benign Het
Klk1b27 C T 7: 43,704,039 (GRCm39) L61F probably damaging Het
Lamtor5 T C 3: 107,186,324 (GRCm39) V31A probably benign Het
Lrp1 A T 10: 127,424,379 (GRCm39) L769* probably null Het
Nipsnap1 A T 11: 4,839,124 (GRCm39) S135C probably damaging Het
Or4k35 C A 2: 111,100,257 (GRCm39) G152C probably damaging Het
Pparg A T 6: 115,467,083 (GRCm39) H452L probably benign Het
Rab34 C T 11: 78,082,264 (GRCm39) A202V probably damaging Het
Ryr3 T A 2: 112,656,228 (GRCm39) T1923S possibly damaging Het
Sall4 A G 2: 168,598,043 (GRCm39) S266P probably damaging Het
Sh2d4b T C 14: 40,582,605 (GRCm39) Q195R probably benign Het
Sik2 C A 9: 50,828,822 (GRCm39) probably benign Het
Slc25a36 A G 9: 96,961,286 (GRCm39) V111A probably benign Het
Slco1a8 T C 6: 141,933,432 (GRCm39) K451R possibly damaging Het
Sptbn5 A T 2: 119,884,903 (GRCm39) probably benign Het
Tnc A G 4: 63,888,645 (GRCm39) V1807A probably damaging Het
Top3b T C 16: 16,705,687 (GRCm39) probably benign Het
Zfp827 A G 8: 79,802,820 (GRCm39) E464G probably damaging Het
Other mutations in Tac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Tac2 APN 10 127,562,003 (GRCm39) critical splice donor site probably null
R0465:Tac2 UTSW 10 127,565,039 (GRCm39) splice site probably benign
R1130:Tac2 UTSW 10 127,565,371 (GRCm39) missense possibly damaging 0.67
R1956:Tac2 UTSW 10 127,564,349 (GRCm39) splice site probably null
R1957:Tac2 UTSW 10 127,564,349 (GRCm39) splice site probably null
R5894:Tac2 UTSW 10 127,561,971 (GRCm39) missense possibly damaging 0.89
R8750:Tac2 UTSW 10 127,564,319 (GRCm39) missense possibly damaging 0.67
Posted On 2013-12-09