Incidental Mutation 'IGL01155:Tac2'
ID52181
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: 0.099) question?
Stock #IGL01155
Quality Score
Status
Chromosome10
Chromosomal Location127724478-127731768 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 127726134 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026466] [ENSMUST00000026466] [ENSMUST00000179960]
Predicted Effect probably null
Transcript: ENSMUST00000026466
SMART Domains Protein: ENSMUSP00000026466
Gene: ENSMUSG00000025400

DomainStartEndE-ValueType
Pfam:Neurokinin_B 1 55 3.1e-37 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000026466
SMART Domains Protein: ENSMUSP00000026466
Gene: ENSMUSG00000025400

DomainStartEndE-ValueType
Pfam:Neurokinin_B 1 55 3.1e-37 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000179960
SMART Domains Protein: ENSMUSP00000136622
Gene: ENSMUSG00000025400

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adgrl3 T A 5: 81,560,893 I409N probably benign Het
Akap13 A G 7: 75,569,936 D29G probably damaging Het
Ap4e1 C A 2: 127,043,445 T322K probably damaging Het
Arfgef1 G A 1: 10,198,982 probably benign Het
Asic5 A G 3: 82,008,588 T282A probably benign Het
Bptf T C 11: 107,080,727 T985A probably damaging Het
Btnl9 A G 11: 49,175,691 F349L probably damaging Het
Bves T A 10: 45,353,859 I253K probably damaging Het
Cars T A 7: 143,569,849 Y455F probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cuedc2 C A 19: 46,332,649 V15F probably damaging Het
Defa22 T A 8: 21,163,037 probably null Het
Fat1 G A 8: 45,023,949 A2011T probably damaging Het
Fyb2 C T 4: 104,999,386 T533I probably benign Het
Gm1043 T C 5: 37,187,089 L182P probably damaging Het
Ice1 A T 13: 70,604,082 V1295E possibly damaging Het
Il12b T A 11: 44,404,088 S18T probably benign Het
Iqcg A G 16: 33,040,875 V157A probably damaging Het
Itgax T A 7: 128,145,035 M937K probably benign Het
Large1 T C 8: 73,131,989 S84G probably benign Het
Lrp1b T C 2: 41,770,935 T54A probably benign Het
Mfn1 A G 3: 32,542,836 M148V probably damaging Het
Mobp C A 9: 120,168,234 T73K probably benign Het
Ms4a3 T C 19: 11,629,655 probably benign Het
Muc5ac C T 7: 141,806,943 probably benign Het
Mzt2 A C 16: 15,862,410 S104A possibly damaging Het
Naa16 T A 14: 79,384,715 K27N probably damaging Het
Nos1 T A 5: 117,945,926 I1267N probably damaging Het
Olfr16 T A 1: 172,956,924 I43N probably benign Het
Rara A G 11: 98,968,184 E153G possibly damaging Het
Scn2a T G 2: 65,717,748 S66A probably damaging Het
Slc6a1 A T 6: 114,314,465 probably null Het
Sorbs3 A G 14: 70,199,341 V136A probably damaging Het
Spink5 T A 18: 43,981,147 H143Q probably benign Het
Susd2 G A 10: 75,640,892 T99I possibly damaging Het
T C T 17: 8,441,745 probably null Het
Tfap4 G T 16: 4,547,359 P180T probably damaging Het
Trap1 G A 16: 4,043,978 Q641* probably null Het
Unc119 A G 11: 78,348,609 N252S probably damaging Het
Other mutations in Tac2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01552:Tac2 APN 10 127726101 missense possibly damaging 0.80
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
R8750:Tac2 UTSW 10 127728450 missense possibly damaging 0.67
Posted On2013-06-21