Incidental Mutation 'R8750:Tac2'
ID 663789
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 068593-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R8750 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 127560347-127567637 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 127564319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 72 (P72L)
Ref Sequence ENSEMBL: ENSMUSP00000026466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026466] [ENSMUST00000179960]
AlphaFold P55099
Predicted Effect possibly damaging
Transcript: ENSMUST00000026466
AA Change: P72L

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000026466
Gene: ENSMUSG00000025400
AA Change: P72L

DomainStartEndE-ValueType
Pfam:Neurokinin_B 1 55 3.1e-37 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000179960
AA Change: P72L

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000136622
Gene: ENSMUSG00000025400
AA Change: P72L

DomainStartEndE-ValueType
Pfam:Neurokinin_B 1 54 2.7e-31 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 G A 12: 81,607,247 (GRCm39) Q172* probably null Het
Ankib1 A G 5: 3,752,890 (GRCm39) probably null Het
Avpr1b C T 1: 131,527,674 (GRCm39) R66C probably damaging Het
Bbs7 A T 3: 36,661,744 (GRCm39) C152S possibly damaging Het
Cacna1a C A 8: 85,285,784 (GRCm39) R810S probably damaging Het
Ccdc17 G A 4: 116,457,129 (GRCm39) A538T possibly damaging Het
Cd93 T C 2: 148,285,080 (GRCm39) M89V probably benign Het
Clec11a G T 7: 43,955,323 (GRCm39) D157E probably benign Het
Crtam A C 9: 40,895,641 (GRCm39) D228E probably benign Het
Cyp2a4 A G 7: 26,012,209 (GRCm39) I331V probably benign Het
Cysltr2 T C 14: 73,267,078 (GRCm39) I211V probably benign Het
Dcaf13 T C 15: 38,982,836 (GRCm39) S123P probably damaging Het
Dctn1 T G 6: 83,160,108 (GRCm39) V116G possibly damaging Het
Dmrt3 G A 19: 25,588,550 (GRCm39) A130T probably benign Het
Dnah1 A T 14: 31,026,924 (GRCm39) L700Q probably benign Het
Dnajc1 T C 2: 18,313,645 (GRCm39) T159A probably damaging Het
Dpyd C T 3: 118,935,585 (GRCm39) S670L probably damaging Het
Dsg2 A T 18: 20,708,069 (GRCm39) I57F possibly damaging Het
Dzip3 A C 16: 48,801,338 (GRCm39) I62S probably damaging Het
Ern1 A T 11: 106,312,776 (GRCm39) S202T probably damaging Het
Foxm1 T A 6: 128,350,206 (GRCm39) C517* probably null Het
Galnt16 G A 12: 80,644,879 (GRCm39) V501I probably benign Het
Gmip A T 8: 70,273,134 (GRCm39) R840S probably benign Het
Gna14 A C 19: 16,585,458 (GRCm39) I279L Het
Irak2 T C 6: 113,663,783 (GRCm39) M444T probably benign Het
Itfg2 T C 6: 128,389,755 (GRCm39) probably null Het
Kif5a T A 10: 127,083,909 (GRCm39) H94L probably damaging Het
Kmt2e A G 5: 23,698,215 (GRCm39) T636A probably benign Het
Krba1 T C 6: 48,382,212 (GRCm39) S152P probably damaging Het
Mad1l1 T A 5: 140,300,822 (GRCm39) M25L probably benign Het
Map7d1 T C 4: 126,132,315 (GRCm39) N286D probably benign Het
Mfrp A G 9: 44,014,802 (GRCm39) K280E probably benign Het
Mlh3 G T 12: 85,308,488 (GRCm39) L1100I probably damaging Het
Mrgprx2 T C 7: 48,131,778 (GRCm39) I347V probably benign Het
Mtnr1b A T 9: 15,785,724 (GRCm39) C11* probably null Het
Mx1 T C 16: 97,252,917 (GRCm39) E401G probably damaging Het
Mypn T C 10: 63,003,036 (GRCm39) D367G probably benign Het
Nherf2 T C 17: 24,861,233 (GRCm39) I176V probably damaging Het
Or52a33 T A 7: 103,289,059 (GRCm39) D96V probably damaging Het
Or6c5b T C 10: 129,245,649 (GRCm39) V138A probably benign Het
Or8s8 T G 15: 98,354,929 (GRCm39) I246R probably damaging Het
Or9g19 T A 2: 85,600,307 (GRCm39) L54H probably damaging Het
Plcb1 T G 2: 135,177,369 (GRCm39) M567R probably damaging Het
Plekhd1 A T 12: 80,752,861 (GRCm39) D109V probably damaging Het
Polr2e A G 10: 79,875,424 (GRCm39) I17T probably benign Het
Pot1b T C 17: 55,973,537 (GRCm39) D421G probably benign Het
Prkar1b A T 5: 139,036,451 (GRCm39) W224R probably damaging Het
Psmd1 C A 1: 86,016,585 (GRCm39) R490S probably damaging Het
Pwp2 A G 10: 78,013,659 (GRCm39) W521R probably damaging Het
Rhpn2 C A 7: 35,075,680 (GRCm39) Q286K probably benign Het
Rnf103 T A 6: 71,486,602 (GRCm39) M411K probably benign Het
Scpep1 A C 11: 88,835,298 (GRCm39) V125G probably damaging Het
Serpinb9c C T 13: 33,335,793 (GRCm39) V248M probably null Het
Snx15 T A 19: 6,170,593 (GRCm39) N282I probably benign Het
Spaca3 A T 11: 80,758,514 (GRCm39) D159V probably benign Het
Srrm4 A G 5: 116,605,567 (GRCm39) V230A unknown Het
Ssu2 T A 6: 112,359,312 (GRCm39) I103F possibly damaging Het
Strip2 T A 6: 29,931,815 (GRCm39) F453I probably damaging Het
Tiparp T G 3: 65,460,125 (GRCm39) S473R probably damaging Het
Tmem135 C T 7: 88,956,456 (GRCm39) R53Q probably damaging Het
Tmem200b T A 4: 131,649,406 (GRCm39) F109I probably damaging Het
Tmem245 A T 4: 56,886,141 (GRCm39) I825N probably damaging Het
Tmem63c G T 12: 87,103,306 (GRCm39) V27F probably damaging Het
Tshz1 T C 18: 84,033,162 (GRCm39) I415M probably damaging Het
Tut4 C G 4: 108,407,940 (GRCm39) A1403G probably damaging Het
Wfdc2 T A 2: 164,407,818 (GRCm39) N162K probably damaging Het
Zeb2 T A 2: 44,887,939 (GRCm39) I373F probably damaging Het
Zfp27 T C 7: 29,594,804 (GRCm39) N387S possibly damaging Het
Zfp760 A T 17: 21,941,356 (GRCm39) H177L possibly damaging Het
Zg16 A G 7: 126,649,518 (GRCm39) S148P possibly damaging Het
Zic2 A G 14: 122,714,129 (GRCm39) N348D probably benign Het
Zswim4 A T 8: 84,939,313 (GRCm39) D856E possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- CTGAAAGTGCTGAGCAAGGC -3'
(R):5'- ATCCTTGCTACCAGGAGAGC -3'

Sequencing Primer
(F):5'- TGCTGAGCAAGGCTAGCG -3'
(R):5'- ACCAGGAGAGCCTCTTAGTTCCTAG -3'
Posted On 2021-03-08