Incidental Mutation 'R1130:Tac2'
ID 98041
Institutional Source Beutler Lab
Gene Symbol Tac2
Ensembl Gene ENSMUSG00000025400
Gene Name tachykinin 2
Synonyms substance K, neurokinin A, neurokinin 2, neuropeptide K, neurokinin alpha, neuromedin L
MMRRC Submission 039203-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R1130 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 127560347-127567637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127565371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 108 (N108D)
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: N108D

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026466
Gene: ENSMUSG00000025400
AA Change: N108D

DomainStartEndE-ValueType
Pfam:Neurokinin_B 1 55 3.1e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000179960
AA Change: N108D

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000136622
Gene: ENSMUSG00000025400
AA Change: N108D

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
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 91.9%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik C T 15: 81,943,561 (GRCm39) H58Y probably benign Het
Akp3 G A 1: 87,055,593 (GRCm39) G547R unknown Het
Armc2 T C 10: 41,887,830 (GRCm39) D51G possibly damaging Het
Aspm A T 1: 139,405,572 (GRCm39) K1486N possibly damaging Het
Aurka A T 2: 172,199,178 (GRCm39) probably null Het
Cfap45 T C 1: 172,373,264 (GRCm39) Y534H probably damaging Het
Cldn20 T C 17: 3,583,243 (GRCm39) Y139H probably damaging Het
Defb19 C A 2: 152,418,109 (GRCm39) E76* probably null Het
Fcho2 A T 13: 98,884,797 (GRCm39) D423E probably damaging Het
Frem1 T G 4: 82,834,865 (GRCm39) probably null Het
Gaa C T 11: 119,165,509 (GRCm39) T333M probably damaging Het
Gm9945 T A 11: 53,371,345 (GRCm39) probably benign Het
Gml2 G A 15: 74,693,195 (GRCm39) C66Y probably damaging Het
H1f6 G T 13: 23,880,307 (GRCm39) K153N possibly damaging Het
Kcnh2 G A 5: 24,536,823 (GRCm39) R254* probably null Het
Megf10 T C 18: 57,395,078 (GRCm39) V480A probably benign Het
Nrde2 A T 12: 100,091,929 (GRCm39) M1152K probably damaging Het
Ociad1 T C 5: 73,451,675 (GRCm39) S15P probably benign Het
Ptprj A G 2: 90,283,765 (GRCm39) V803A probably damaging Het
Rxylt1 T C 10: 121,931,847 (GRCm39) I109V possibly damaging Het
Skint7 T C 4: 111,841,355 (GRCm39) I265T probably benign Het
Srsf2 A G 11: 116,743,009 (GRCm39) probably benign Het
Other mutations in Tac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Tac2 APN 10 127,562,003 (GRCm39) critical splice donor site probably null
IGL01552:Tac2 APN 10 127,561,970 (GRCm39) missense possibly damaging 0.80
R0465:Tac2 UTSW 10 127,565,039 (GRCm39) splice site probably benign
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
Predicted Primers PCR Primer
(F):5'- ACCTCCCAGTTTGTCAGCAGAAAG -3'
(R):5'- TCATCAGAGTCCATGACACCGCAG -3'

Sequencing Primer
(F):5'- TGCAGTCATCAGGATCAGC -3'
(R):5'- AGTCATTGTGCCTGACGC -3'
Posted On 2014-01-05