Incidental Mutation 'IGL01417:Tacr3'
ID 80437
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tacr3
Ensembl Gene ENSMUSG00000028172
Gene Name tachykinin receptor 3
Synonyms Nk3r, Tac3r, neuromedin K receptor
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01417
Quality Score
Status
Chromosome 3
Chromosomal Location 134534768-134640340 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 134535307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 92 (I92F)
Ref Sequence ENSEMBL: ENSMUSP00000029822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029822]
AlphaFold P47937
Predicted Effect possibly damaging
Transcript: ENSMUST00000029822
AA Change: I92F

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029822
Gene: ENSMUSG00000028172
AA Change: I92F

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 83 358 2.4e-11 PFAM
Pfam:7tm_1 89 343 3.6e-58 PFAM
low complexity region 433 447 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene belongs to a family of genes that function as receptors for tachykinins. 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 neurokinin 3, also referred to as neurokinin B. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased body weight, cognitive deficits in tests associated with learning and memory and symptoms of hypogonadotropic hypogonadism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa13 T A 15: 58,228,043 (GRCm39) noncoding transcript Het
Ctdsp2 T C 10: 126,829,743 (GRCm39) I125T probably benign Het
Dnah7a T C 1: 53,623,759 (GRCm39) K1044E probably benign Het
Edem2 T C 2: 155,570,898 (GRCm39) Y44C probably damaging Het
Elmo1 T C 13: 20,435,345 (GRCm39) probably null Het
Flnb T C 14: 7,905,513 (GRCm38) S1088P probably damaging Het
Fmnl1 A G 11: 103,087,520 (GRCm39) probably benign Het
Fv1 T A 4: 147,953,786 (GRCm39) C117* probably null Het
Hmcn1 T C 1: 150,734,990 (GRCm39) D174G probably damaging Het
Htatip2 G A 7: 49,420,573 (GRCm39) V140I possibly damaging Het
Mill1 G T 7: 17,998,708 (GRCm39) R306L probably benign Het
Myoz2 G A 3: 122,800,081 (GRCm39) T249I possibly damaging Het
Nrdc T C 4: 108,858,027 (GRCm39) probably benign Het
Or2r3 T A 6: 42,449,046 (GRCm39) H22L probably benign Het
Pcbp1 T C 6: 86,502,836 (GRCm39) H21R probably damaging Het
Pdcd2l A C 7: 33,892,170 (GRCm39) L221R probably damaging Het
Ppp1r3b A G 8: 35,851,566 (GRCm39) E135G probably damaging Het
Rbsn T C 6: 92,184,100 (GRCm39) E71G possibly damaging Het
Shc3 T C 13: 51,585,200 (GRCm39) R472G probably benign Het
Sox8 A C 17: 25,786,502 (GRCm39) probably null Het
Ubr4 A G 4: 139,138,111 (GRCm39) N1156S probably damaging Het
Upk3b T C 5: 136,067,920 (GRCm39) I37T possibly damaging Het
Vmn1r35 T A 6: 66,656,191 (GRCm39) I160F probably benign Het
Vps50 T C 6: 3,522,377 (GRCm39) probably benign Het
Other mutations in Tacr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Tacr3 APN 3 134,560,582 (GRCm39) missense probably benign 0.31
IGL00972:Tacr3 APN 3 134,638,116 (GRCm39) missense probably benign 0.19
IGL01291:Tacr3 APN 3 134,635,810 (GRCm39) missense probably damaging 1.00
IGL01417:Tacr3 APN 3 134,535,242 (GRCm39) missense possibly damaging 0.52
IGL02282:Tacr3 APN 3 134,566,834 (GRCm39) missense probably benign 0.01
IGL02548:Tacr3 APN 3 134,535,232 (GRCm39) missense probably damaging 1.00
IGL02645:Tacr3 APN 3 134,566,943 (GRCm39) missense possibly damaging 0.46
IGL03085:Tacr3 APN 3 134,638,027 (GRCm39) missense possibly damaging 0.93
IGL03247:Tacr3 APN 3 134,635,852 (GRCm39) splice site probably benign
ANU05:Tacr3 UTSW 3 134,635,810 (GRCm39) missense probably damaging 1.00
R0355:Tacr3 UTSW 3 134,637,989 (GRCm39) missense probably benign 0.28
R0731:Tacr3 UTSW 3 134,560,761 (GRCm39) critical splice donor site probably null
R1570:Tacr3 UTSW 3 134,535,517 (GRCm39) missense probably damaging 0.97
R1686:Tacr3 UTSW 3 134,535,254 (GRCm39) missense probably damaging 1.00
R2129:Tacr3 UTSW 3 134,560,621 (GRCm39) missense probably damaging 1.00
R2130:Tacr3 UTSW 3 134,637,941 (GRCm39) missense probably benign 0.00
R2131:Tacr3 UTSW 3 134,637,941 (GRCm39) missense probably benign 0.00
R2352:Tacr3 UTSW 3 134,560,631 (GRCm39) missense probably benign 0.09
R4695:Tacr3 UTSW 3 134,635,690 (GRCm39) missense probably damaging 1.00
R4695:Tacr3 UTSW 3 134,535,182 (GRCm39) missense probably benign 0.01
R4840:Tacr3 UTSW 3 134,560,615 (GRCm39) missense possibly damaging 0.71
R4976:Tacr3 UTSW 3 134,638,033 (GRCm39) missense probably benign 0.14
R5168:Tacr3 UTSW 3 134,535,320 (GRCm39) missense probably damaging 1.00
R5924:Tacr3 UTSW 3 134,638,060 (GRCm39) missense possibly damaging 0.65
R6042:Tacr3 UTSW 3 134,638,153 (GRCm39) missense probably benign 0.01
R6964:Tacr3 UTSW 3 134,535,500 (GRCm39) missense probably damaging 1.00
R7653:Tacr3 UTSW 3 134,566,843 (GRCm39) missense probably benign 0.02
R7724:Tacr3 UTSW 3 134,635,669 (GRCm39) missense probably damaging 1.00
R8291:Tacr3 UTSW 3 134,637,910 (GRCm39) missense possibly damaging 0.80
R8987:Tacr3 UTSW 3 134,560,718 (GRCm39) missense probably damaging 0.99
R8987:Tacr3 UTSW 3 134,560,573 (GRCm39) missense probably damaging 1.00
R9077:Tacr3 UTSW 3 134,635,711 (GRCm39) missense probably benign 0.05
R9423:Tacr3 UTSW 3 134,638,043 (GRCm39) missense probably benign
R9501:Tacr3 UTSW 3 134,535,092 (GRCm39) missense probably benign
Posted On 2013-11-05