Incidental Mutation 'R3162:Tacr2'
ID 500451
Institutional Source Beutler Lab
Gene Symbol Tacr2
Ensembl Gene ENSMUSG00000020081
Gene Name tachykinin receptor 2
Synonyms Tac2r
MMRRC Submission 040613-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R3162 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 62088217-62101769 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 62101024 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 378 (D378G)
Ref Sequence ENSEMBL: ENSMUSP00000020278 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020278] [ENSMUST00000072357] [ENSMUST00000099691] [ENSMUST00000116238] [ENSMUST00000130422]
AlphaFold P30549
Predicted Effect probably benign
Transcript: ENSMUST00000020278
AA Change: D378G

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000020278
Gene: ENSMUSG00000020081
AA Change: D378G

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 44 322 1.9e-11 PFAM
Pfam:7tm_1 50 307 4e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072357
SMART Domains Protein: ENSMUSP00000072195
Gene: ENSMUSG00000037012

DomainStartEndE-ValueType
Pfam:Hexokinase_1 25 224 1.2e-70 PFAM
Pfam:Hexokinase_2 229 486 8e-79 PFAM
Pfam:Hexokinase_1 496 695 7e-76 PFAM
Pfam:Hexokinase_2 700 934 4.2e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099691
SMART Domains Protein: ENSMUSP00000097282
Gene: ENSMUSG00000037012

DomainStartEndE-ValueType
Pfam:Hexokinase_1 16 221 1.9e-86 PFAM
Pfam:Hexokinase_2 223 462 1e-102 PFAM
Pfam:Hexokinase_1 464 669 1.1e-90 PFAM
Pfam:Hexokinase_2 671 910 2.2e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116238
SMART Domains Protein: ENSMUSP00000111946
Gene: ENSMUSG00000037012

DomainStartEndE-ValueType
Pfam:Hexokinase_1 21 225 1.3e-85 PFAM
Pfam:Hexokinase_2 227 357 3.6e-56 PFAM
Pfam:Hexokinase_2 362 489 9.3e-41 PFAM
Pfam:Hexokinase_1 491 696 2e-90 PFAM
Pfam:Hexokinase_2 698 937 3.8e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130422
SMART Domains Protein: ENSMUSP00000118601
Gene: ENSMUSG00000037012

DomainStartEndE-ValueType
Pfam:Hexokinase_1 16 220 1.4e-85 PFAM
Pfam:Hexokinase_2 222 461 1e-102 PFAM
Pfam:Hexokinase_1 463 668 1.1e-90 PFAM
Pfam:Hexokinase_2 670 909 2.2e-109 PFAM
Meta Mutation Damage Score 0.0738 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (49/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a family of genes that function as receptors for tachykinins. Receptor affinities are specified by variations in the 5'-end of the sequence. The receptors belonging to this family are characterized by interactions with G proteins and 7 hydrophobic transmembrane regions. This gene encodes the receptor for the tachykinin neuropeptide substance K, also referred to as neurokinin A. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T C 5: 64,053,833 (GRCm39) probably benign Het
4933412E24Rik T A 15: 59,888,134 (GRCm39) E102V probably damaging Het
Adcy9 A G 16: 4,129,452 (GRCm39) L715P probably damaging Het
Adgre4 T C 17: 56,109,218 (GRCm39) probably benign Het
Amer2 A G 14: 60,616,000 (GRCm39) D65G probably damaging Het
Atad2b C A 12: 4,989,689 (GRCm39) N133K possibly damaging Het
AW551984 C A 9: 39,504,325 (GRCm39) R547L probably damaging Het
B3galt6 A G 4: 156,076,464 (GRCm39) Y204H probably benign Het
Btnl2 T C 17: 34,577,039 (GRCm39) W65R probably damaging Het
Camk1g T C 1: 193,042,115 (GRCm39) T45A possibly damaging Het
Caps2 C A 10: 112,018,391 (GRCm39) Y180* probably null Het
Ccdc181 T A 1: 164,107,865 (GRCm39) S183T probably damaging Het
Cdc14b A G 13: 64,394,422 (GRCm39) probably benign Het
Cep350 T C 1: 155,738,910 (GRCm39) H2311R probably benign Het
Cfap54 T A 10: 92,881,140 (GRCm39) K349N probably damaging Het
Copa T A 1: 171,918,800 (GRCm39) C127S probably damaging Het
Crbn T C 6: 106,767,827 (GRCm39) Q221R probably benign Het
Dapk2 T G 9: 66,161,893 (GRCm39) V267G probably damaging Het
Ddb1 T C 19: 10,603,335 (GRCm39) L881P probably damaging Het
Decr1 T A 4: 15,930,972 (GRCm39) D120V probably damaging Het
Dennd1c C T 17: 57,373,562 (GRCm39) G637D possibly damaging Het
Dhrs3 A G 4: 144,646,016 (GRCm39) D108G possibly damaging Het
Disp1 T C 1: 182,868,806 (GRCm39) K1205E probably benign Het
Dnajc13 G T 9: 104,097,097 (GRCm39) N510K possibly damaging Het
Dusp6 T C 10: 99,099,944 (GRCm39) Y131H probably damaging Het
Eif2b2 A T 12: 85,266,435 (GRCm39) M34L probably benign Het
Epsti1 A T 14: 78,211,953 (GRCm39) probably benign Het
Errfi1 G A 4: 150,951,816 (GRCm39) E415K probably damaging Het
Ext1 T C 15: 53,208,000 (GRCm39) N254D possibly damaging Het
Gm7337 A C 5: 87,999,416 (GRCm39) noncoding transcript Het
Hnrnpu T C 1: 178,158,690 (GRCm39) probably benign Het
Hyal3 T A 9: 107,464,005 (GRCm39) C407S probably damaging Het
Insr T G 8: 3,211,416 (GRCm39) N1141T possibly damaging Het
Ipo9 T C 1: 135,337,214 (GRCm39) T174A probably benign Het
Iqgap1 G A 7: 80,402,086 (GRCm39) A393V probably benign Het
Irak2 G T 6: 113,649,721 (GRCm39) A119S probably benign Het
Itgb2l A G 16: 96,238,589 (GRCm39) L70P probably damaging Het
Itsn1 C A 16: 91,649,932 (GRCm39) S202* probably null Het
Ivd T C 2: 118,692,650 (GRCm39) probably null Het
Leprot C T 4: 101,515,090 (GRCm39) T89I probably damaging Het
Lratd2 A T 15: 60,695,296 (GRCm39) V150E probably damaging Het
Mill2 A C 7: 18,590,099 (GRCm39) E127A probably benign Het
Msh6 T C 17: 88,292,909 (GRCm39) Y555H probably damaging Het
Myo18b A C 5: 112,840,594 (GRCm39) S2400A probably damaging Het
Naa25 A G 5: 121,573,135 (GRCm39) probably null Het
Nop2 A G 6: 125,111,555 (GRCm39) N96S probably benign Het
Nup155 G T 15: 8,177,867 (GRCm39) R1083S possibly damaging Het
Nusap1 A T 2: 119,460,885 (GRCm39) Q126L possibly damaging Het
Or11g24 T A 14: 50,662,488 (GRCm39) C171S probably damaging Het
Or13c7b T A 4: 43,820,544 (GRCm39) K272N probably benign Het
Or2z2 T C 11: 58,346,053 (GRCm39) T241A probably damaging Het
Or4c52 T G 2: 89,845,365 (GRCm39) Y30* probably null Het
Or5al1 T C 2: 85,990,439 (GRCm39) I92V probably benign Het
Or6x1 G T 9: 40,098,901 (GRCm39) Q163H probably benign Het
Or7a35 C A 10: 78,853,438 (GRCm39) T94N probably benign Het
Pde5a T A 3: 122,575,277 (GRCm39) L356* probably null Het
Pdik1l A G 4: 134,011,561 (GRCm39) L94S probably damaging Het
Pkdrej T A 15: 85,700,818 (GRCm39) D1706V probably damaging Het
Pkhd1l1 A G 15: 44,368,924 (GRCm39) I856M probably damaging Het
Prkcz A T 4: 155,374,981 (GRCm39) D114E probably benign Het
Prss59 A G 6: 40,903,003 (GRCm39) M123T probably benign Het
Psap T C 10: 60,113,575 (GRCm39) L4P possibly damaging Het
Ptprk T C 10: 28,468,822 (GRCm39) V1402A probably benign Het
Rai14 T C 15: 10,633,250 (GRCm39) T47A possibly damaging Het
Ralgapa1 A T 12: 55,756,371 (GRCm39) N1075K probably damaging Het
Rlf A G 4: 121,006,044 (GRCm39) S979P probably damaging Het
Rps2 G T 17: 24,939,952 (GRCm39) A129S probably benign Het
Serinc2 A G 4: 130,154,528 (GRCm39) S175P probably benign Het
Skic2 C T 17: 35,066,789 (GRCm39) W88* probably null Het
Socs5 A T 17: 87,442,146 (GRCm39) Q362L probably damaging Het
Srbd1 A T 17: 86,437,643 (GRCm39) D233E probably benign Het
Srgap3 A G 6: 112,706,619 (GRCm39) V826A probably benign Het
Taok2 A G 7: 126,474,347 (GRCm39) I294T possibly damaging Het
Tert A G 13: 73,775,528 (GRCm39) E93G possibly damaging Het
Tns2 A G 15: 102,021,771 (GRCm39) E1118G possibly damaging Het
Topaz1 T C 9: 122,578,446 (GRCm39) I452T probably benign Het
Trak1 C T 9: 121,280,800 (GRCm39) probably benign Het
Ttc22 A T 4: 106,480,276 (GRCm39) I177F probably damaging Het
Tuba8 A G 6: 121,199,697 (GRCm39) D127G possibly damaging Het
Tulp4 A G 17: 6,248,983 (GRCm39) M1V probably null Het
Urb1 A G 16: 90,594,791 (GRCm39) L247P probably damaging Het
Usp32 A G 11: 84,916,362 (GRCm39) W861R probably damaging Het
Vmn1r48 G A 6: 90,013,360 (GRCm39) T155I probably benign Het
Vmn2r117 A G 17: 23,679,352 (GRCm39) L624P probably damaging Het
Vmn2r86 T C 10: 130,291,673 (GRCm39) R31G probably damaging Het
Vstm5 T G 9: 15,168,594 (GRCm39) S53A probably benign Het
Wnt5a T C 14: 28,244,445 (GRCm39) Y231H probably benign Het
Yeats2 T C 16: 20,012,395 (GRCm39) V531A probably damaging Het
Zw10 T C 9: 48,988,860 (GRCm39) Y709H probably damaging Het
Other mutations in Tacr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02756:Tacr2 APN 10 62,097,469 (GRCm39) splice site probably benign
R1538:Tacr2 UTSW 10 62,097,106 (GRCm39) critical splice donor site probably null
R3161:Tacr2 UTSW 10 62,101,024 (GRCm39) missense probably benign 0.16
R3162:Tacr2 UTSW 10 62,101,024 (GRCm39) missense probably benign 0.16
R3889:Tacr2 UTSW 10 62,100,865 (GRCm39) missense probably damaging 1.00
R4193:Tacr2 UTSW 10 62,088,958 (GRCm39) missense probably damaging 1.00
R4801:Tacr2 UTSW 10 62,097,327 (GRCm39) missense probably damaging 1.00
R4802:Tacr2 UTSW 10 62,097,327 (GRCm39) missense probably damaging 1.00
R5382:Tacr2 UTSW 10 62,097,276 (GRCm39) missense probably damaging 1.00
R5751:Tacr2 UTSW 10 62,088,769 (GRCm39) missense probably damaging 0.98
R7064:Tacr2 UTSW 10 62,097,276 (GRCm39) missense probably damaging 1.00
R7412:Tacr2 UTSW 10 62,097,427 (GRCm39) nonsense probably null
R8335:Tacr2 UTSW 10 62,100,946 (GRCm39) missense probably benign 0.41
R8723:Tacr2 UTSW 10 62,094,107 (GRCm39) missense probably damaging 1.00
R8755:Tacr2 UTSW 10 62,088,733 (GRCm39) missense possibly damaging 0.94
Z1177:Tacr2 UTSW 10 62,094,023 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-12-01