Incidental Mutation 'IGL00972:Tacr3'
ID 27155
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 # IGL00972
Quality Score
Status
Chromosome 3
Chromosomal Location 134534768-134640340 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 134638116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 424 (N424K)
Ref Sequence ENSEMBL: ENSMUSP00000029822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029822]
AlphaFold P47937
Predicted Effect probably benign
Transcript: ENSMUST00000029822
AA Change: N424K

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000029822
Gene: ENSMUSG00000028172
AA Change: N424K

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3100002H09Rik A G 4: 124,504,484 (GRCm39) F23L probably damaging Het
Abcf3 A T 16: 20,370,434 (GRCm39) M320L probably damaging Het
Adam4 A T 12: 81,467,423 (GRCm39) H399Q probably damaging Het
Ank1 A G 8: 23,631,660 (GRCm39) K140E probably damaging Het
Atg2a G A 19: 6,304,629 (GRCm39) C1162Y probably damaging Het
Atp2b1 T A 10: 98,850,906 (GRCm39) I34N probably damaging Het
Bin1 A T 18: 32,557,887 (GRCm39) E260V probably benign Het
Birc2 G A 9: 7,833,716 (GRCm39) S255L probably benign Het
Cdc42bpa A G 1: 179,902,249 (GRCm39) Q502R probably benign Het
Cep170 A G 1: 176,563,262 (GRCm39) V1584A probably benign Het
Commd3 A T 2: 18,679,476 (GRCm39) R120S probably benign Het
Cyp39a1 A T 17: 44,012,434 (GRCm39) I304L probably benign Het
Cyp3a44 A T 5: 145,716,534 (GRCm39) M352K possibly damaging Het
Dna2 T C 10: 62,786,602 (GRCm39) Y117H probably benign Het
Dnah6 A G 6: 73,060,140 (GRCm39) probably benign Het
Dsc1 G A 18: 20,221,420 (GRCm39) P685L probably benign Het
Efna5 T A 17: 62,920,374 (GRCm39) I168L possibly damaging Het
Ephx1 A G 1: 180,827,365 (GRCm39) F96S probably benign Het
Fig4 A T 10: 41,127,784 (GRCm39) I560K probably damaging Het
Fktn T A 4: 53,734,992 (GRCm39) I210N probably damaging Het
Fmnl1 T C 11: 103,071,781 (GRCm39) V96A probably damaging Het
Gabra1 T G 11: 42,024,453 (GRCm39) E407D probably benign Het
Gm5277 A T 3: 78,799,593 (GRCm39) noncoding transcript Het
H2-M10.5 A T 17: 37,084,227 (GRCm39) E63V possibly damaging Het
Icam5 T A 9: 20,945,993 (GRCm39) V275E probably damaging Het
Kel G A 6: 41,665,000 (GRCm39) A588V possibly damaging Het
Klra5 T A 6: 129,883,568 (GRCm39) E96D probably damaging Het
Limd1 C T 9: 123,309,141 (GRCm39) T280I probably benign Het
Mul1 C A 4: 138,165,628 (GRCm39) S95* probably null Het
Nlrp4a T C 7: 26,156,473 (GRCm39) S733P probably benign Het
Ntn1 T A 11: 68,104,098 (GRCm39) I517F possibly damaging Het
Ntrk3 T A 7: 77,897,070 (GRCm39) M656L possibly damaging Het
Oacyl T G 18: 65,858,572 (GRCm39) L226R possibly damaging Het
Or1ad6 A T 11: 50,859,946 (GRCm39) M34L probably benign Het
Or4f61 A T 2: 111,922,439 (GRCm39) N202K probably damaging Het
Or5ac17 A G 16: 59,036,829 (GRCm39) I49T probably damaging Het
Pibf1 T A 14: 99,416,885 (GRCm39) L486* probably null Het
Pla2g4c A G 7: 13,074,583 (GRCm39) Y253C probably benign Het
Rims3 C A 4: 120,748,583 (GRCm39) A268E probably benign Het
Rpl12 T C 2: 32,853,759 (GRCm39) I129T probably benign Het
Rsl1 A T 13: 67,329,862 (GRCm39) K103N probably benign Het
Scn11a A T 9: 119,623,004 (GRCm39) W612R probably benign Het
Sdk2 G A 11: 113,745,210 (GRCm39) T695M possibly damaging Het
Slc17a1 T A 13: 24,062,437 (GRCm39) probably benign Het
Stam A T 2: 14,120,779 (GRCm39) probably benign Het
Tas1r2 C T 4: 139,387,347 (GRCm39) R240W probably damaging Het
Tle1 T C 4: 72,040,637 (GRCm39) R648G probably damaging Het
Tmem92 T C 11: 94,673,254 (GRCm39) D3G possibly damaging Het
Trip11 T C 12: 101,860,596 (GRCm39) I250V probably null Het
Tspan8 C T 10: 115,680,044 (GRCm39) probably benign Het
Vmn1r128 A G 7: 21,084,001 (GRCm39) E235G probably benign Het
Vmn1r220 A G 13: 23,368,558 (GRCm39) L46P probably damaging Het
Vmn2r9 T C 5: 108,996,903 (GRCm39) E122G probably benign Het
Zfp27 A T 7: 29,594,383 (GRCm39) N527K probably damaging Het
Other mutations in Tacr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Tacr3 APN 3 134,560,582 (GRCm39) missense probably benign 0.31
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
IGL01417:Tacr3 APN 3 134,535,307 (GRCm39) missense possibly damaging 0.95
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 2013-04-17