Incidental Mutation 'IGL02932:Htr1b'
ID364146
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Htr1b
Ensembl Gene ENSMUSG00000049511
Gene Name5-hydroxytryptamine (serotonin) receptor 1B
Synonyms5-HT1B receptor, 5-HT<1B> receptor, 5HT1B receptor
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.169) question?
Stock #IGL02932
Quality Score
Status
Chromosome9
Chromosomal Location81628291-81633828 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 81631636 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 306 (R306L)
Ref Sequence ENSEMBL: ENSMUSP00000139389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051005] [ENSMUST00000183482]
Predicted Effect probably damaging
Transcript: ENSMUST00000051005
AA Change: R306L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000050898
Gene: ENSMUSG00000049511
AA Change: R306L

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 53 188 6e-8 PFAM
Pfam:7TM_GPCR_Srsx 56 380 7.5e-12 PFAM
Pfam:7tm_1 62 365 1.8e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180663
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181893
Predicted Effect probably damaging
Transcript: ENSMUST00000183482
AA Change: R306L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139389
Gene: ENSMUSG00000049511
AA Change: R306L

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 53 188 5.7e-8 PFAM
Pfam:7TM_GPCR_Srsx 56 380 7.5e-12 PFAM
Pfam:7tm_1 62 365 1e-91 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183781
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this intronless gene is a G-protein coupled receptor for serotonin (5-hydroxytryptamine). Ligand binding activates second messengers that inhibit the activity of adenylate cyclase and manage the release of serotonin, dopamine, and acetylcholine in the brain. The encoded protein may be involved in several neuropsychiatric disorders and therefore is often a target of antidepressant and other psychotherapeutic drugs. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit an increase in body weight, aggression, drinking behavior, and osteoblast proliferation and bone mass, and show altered spatial learning and operant conditional behavior as well as reduced anxiety-related response and startle reflex, and small testes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap42 T A 9: 9,115,708 E122D probably damaging Het
Asb3 G A 11: 31,029,067 probably null Het
Avl9 T C 6: 56,736,551 S265P probably benign Het
Cep44 C T 8: 56,547,424 R18Q probably damaging Het
Clec10a T C 11: 70,169,728 probably benign Het
Cog4 A G 8: 110,852,433 I115V probably benign Het
Coq3 C T 4: 21,900,430 A219V probably benign Het
Cry2 G A 2: 92,413,117 R460* probably null Het
Ddx39b A G 17: 35,253,361 probably benign Het
Dhx40 G A 11: 86,771,929 R646C probably damaging Het
Ears2 G A 7: 122,063,061 R55C probably damaging Het
Eif3m C T 2: 105,014,869 G26R probably damaging Het
Exo5 A G 4: 120,922,545 L41P probably benign Het
Fut10 A G 8: 31,259,937 H417R probably damaging Het
Gars T A 6: 55,060,944 L296Q probably damaging Het
Gpr143 A T X: 152,793,443 probably benign Het
Lama3 G A 18: 12,528,801 A2185T probably damaging Het
Mbd5 C A 2: 49,279,448 Q1544K possibly damaging Het
Mccc1 T C 3: 35,960,029 E713G possibly damaging Het
Mttp A G 3: 138,111,744 F415S probably benign Het
Mug1 A G 6: 121,887,427 T1428A probably benign Het
Mup6 A C 4: 60,006,009 D159A probably damaging Het
Nsd2 T C 5: 33,880,128 L698P probably damaging Het
Olfr1184 G T 2: 88,487,175 V148F probably benign Het
Olfr1361 A T 13: 21,658,831 M164K probably damaging Het
Olfr495 A G 7: 108,395,513 N131S probably benign Het
Olfr815 A T 10: 129,902,418 C97* probably null Het
Osgepl1 G A 1: 53,321,516 R372H probably benign Het
Pias2 C T 18: 77,145,103 H537Y probably damaging Het
Slc38a7 A C 8: 95,846,155 I149M probably damaging Het
Smn1 A G 13: 100,127,964 T68A probably benign Het
Syde2 A G 3: 146,001,476 K657R possibly damaging Het
Tdrd5 A T 1: 156,270,620 H625Q possibly damaging Het
Tead3 T C 17: 28,341,351 Y2C probably damaging Het
Tmem255a T A X: 38,208,063 T280S probably benign Het
Ttpa A G 4: 20,021,215 T128A possibly damaging Het
Wdhd1 A G 14: 47,272,134 probably null Het
Other mutations in Htr1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03144:Htr1b APN 9 81631945 missense probably damaging 0.96
IGL03350:Htr1b APN 9 81632122 missense probably damaging 1.00
R0395:Htr1b UTSW 9 81631651 missense probably benign 0.09
R0697:Htr1b UTSW 9 81631463 missense possibly damaging 0.77
R1569:Htr1b UTSW 9 81632287 missense probably benign 0.01
R3411:Htr1b UTSW 9 81632041 missense probably benign 0.00
R3821:Htr1b UTSW 9 81632434 missense probably benign 0.02
R4359:Htr1b UTSW 9 81632351 missense probably benign 0.12
R4487:Htr1b UTSW 9 81631539 missense probably benign 0.01
R4489:Htr1b UTSW 9 81631539 missense probably benign 0.01
R4715:Htr1b UTSW 9 81631510 missense possibly damaging 0.95
R5502:Htr1b UTSW 9 81631801 missense possibly damaging 0.82
R6393:Htr1b UTSW 9 81631757 missense probably benign 0.11
R6616:Htr1b UTSW 9 81632434 missense probably benign
R6900:Htr1b UTSW 9 81631570 missense probably damaging 1.00
R7038:Htr1b UTSW 9 81632243 missense probably benign
R7850:Htr1b UTSW 9 81632599 utr 5 prime probably null
R8074:Htr1b UTSW 9 81631529 missense probably benign 0.01
Posted On2015-12-18