Incidental Mutation 'IGL01552:Tac2'
ID90613
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tac2
Ensembl Gene ENSMUSG00000025400
Gene Nametachykinin 2
Synonymsneuropeptide K, substance K, neurokinin 2, neuromedin L, neurokinin alpha, neurokinin A
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL01552
Quality Score
Status
Chromosome10
Chromosomal Location127724478-127731768 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 127726101 bp
ZygosityHeterozygous
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]
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
5330417C22Rik A G 3: 108,481,312 W252R possibly damaging Het
Arl8a T C 1: 135,152,868 probably null Het
Bivm A G 1: 44,126,773 N128D probably benign Het
Chil3 C A 3: 106,148,848 G330V probably damaging Het
Dscaml1 A G 9: 45,447,908 H155R probably damaging Het
Etl4 T A 2: 20,778,189 V687D probably damaging Het
Fbxw10 A T 11: 62,857,684 probably null Het
Gfpt2 G T 11: 49,805,005 E21* probably null Het
Gm10197 C T 19: 53,371,691 V26I possibly damaging Het
Gm4788 A G 1: 139,739,302 Y412H probably damaging Het
Gm6614 T C 6: 141,987,706 K451R possibly damaging Het
Golim4 T C 3: 75,956,195 E35G probably damaging Het
Igdcc4 A G 9: 65,122,502 probably benign Het
Ino80d A G 1: 63,057,977 probably benign Het
Ipo13 A G 4: 117,900,964 M734T probably benign Het
Klk1b27 C T 7: 44,054,615 L61F probably damaging Het
Lamtor5 T C 3: 107,279,008 V31A probably benign Het
Lrp1 A T 10: 127,588,510 L769* probably null Het
Nipsnap1 A T 11: 4,889,124 S135C probably damaging Het
Olfr1277 C A 2: 111,269,912 G152C probably damaging Het
Pparg A T 6: 115,490,122 H452L probably benign Het
Rab34 C T 11: 78,191,438 A202V probably damaging Het
Ryr3 T A 2: 112,825,883 T1923S possibly damaging Het
Sall4 A G 2: 168,756,123 S266P probably damaging Het
Sh2d4b T C 14: 40,860,648 Q195R probably benign Het
Sik2 C A 9: 50,917,522 probably benign Het
Slc25a36 A G 9: 97,079,233 V111A probably benign Het
Sptbn5 A T 2: 120,054,422 probably benign Het
Tnc A G 4: 63,970,408 V1807A probably damaging Het
Top3b T C 16: 16,887,823 probably benign Het
Zfp827 A G 8: 79,076,191 E464G probably damaging Het
Other mutations in Tac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Tac2 APN 10 127726134 critical splice donor site probably null
R0465:Tac2 UTSW 10 127729170 splice site probably benign
R1130:Tac2 UTSW 10 127729502 missense possibly damaging 0.67
R1956:Tac2 UTSW 10 127728480 splice site probably null
R1957:Tac2 UTSW 10 127728480 splice site probably null
R5894:Tac2 UTSW 10 127726102 missense possibly damaging 0.89
Posted On2013-12-09