Incidental Mutation 'R9741:Htr1a'
ID 731850
Institutional Source Beutler Lab
Gene Symbol Htr1a
Ensembl Gene ENSMUSG00000021721
Gene Name 5-hydroxytryptamine (serotonin) receptor 1A
Synonyms 5-HT1A receptor, Gpcr18
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9741 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 105580147-105584630 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105581861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 367 (V367A)
Ref Sequence ENSEMBL: ENSMUSP00000022235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022235]
AlphaFold Q64264
Predicted Effect possibly damaging
Transcript: ENSMUST00000022235
AA Change: V367A

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022235
Gene: ENSMUSG00000021721
AA Change: V367A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 45 174 2.7e-5 PFAM
Pfam:7TM_GPCR_Srsx 47 236 8e-8 PFAM
Pfam:7tm_1 53 400 1.3e-88 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G protein-coupled receptor for 5-hydroxytryptamine (serotonin), and belongs to the 5-hydroxytryptamine receptor subfamily. Serotonin has been implicated in a number of physiologic processes and pathologic conditions. Inactivation of this gene in mice results in behavior consistent with an increased anxiety and stress response. Mutation in the promoter of this gene has been associated with menstrual cycle-dependent periodic fevers. [provided by RefSeq, Jun 2012]
PHENOTYPE: Homozygotes for targeted null mutations show a common phenotype, including augmented anxious-like behavior in the elevated plus-maze, open-field, and novel object tests, reduced immobility in the forced-swim or tail-suspension test, and changes in density of 5-HTT binding in several brain regions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd6 T A 4: 32,860,339 (GRCm39) K35* probably null Het
Apoc3 G T 9: 46,145,998 (GRCm39) T5K unknown Het
Arhgap20 T A 9: 51,760,730 (GRCm39) Y860* probably null Het
Arhgef11 T C 3: 87,595,156 (GRCm39) S123P probably benign Het
Armh4 A G 14: 50,008,081 (GRCm39) I464T probably benign Het
Axdnd1 T A 1: 156,169,385 (GRCm39) Y827F probably benign Het
Bbs5 A G 2: 69,484,695 (GRCm39) T122A probably benign Het
Btbd6 T A 12: 112,940,923 (GRCm39) D173E probably benign Het
Cblb T C 16: 51,932,490 (GRCm39) I149T probably damaging Het
Cyp2ab1 G A 16: 20,132,953 (GRCm39) R214C probably damaging Het
Dbn1 C T 13: 55,624,114 (GRCm39) S372N possibly damaging Het
Dlg1 T A 16: 31,676,735 (GRCm39) Y776* probably null Het
Dock9 A T 14: 121,877,516 (GRCm39) I409N probably damaging Het
Ect2 A T 3: 27,156,607 (GRCm39) N815K probably benign Het
Fbxw11 G T 11: 32,685,358 (GRCm39) V398L probably damaging Het
Gcsam T C 16: 45,436,319 (GRCm39) F34S possibly damaging Het
Ghsr G A 3: 27,428,898 (GRCm39) V308I possibly damaging Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
H1f10 A G 6: 87,958,200 (GRCm39) Y47H probably damaging Het
Hspg2 T C 4: 137,239,962 (GRCm39) F510S probably damaging Het
Iars1 T G 13: 49,844,978 (GRCm39) F163C probably damaging Het
Igfn1 T C 1: 135,895,383 (GRCm39) T1728A probably benign Het
Ighv7-3 C T 12: 114,116,995 (GRCm39) V56I probably benign Het
Lrp1b A T 2: 41,002,300 (GRCm39) I2133N Het
Lrrc37 T C 11: 103,504,255 (GRCm39) E2571G possibly damaging Het
Or2d2 A G 7: 106,728,366 (GRCm39) V78A possibly damaging Het
Or52z1 G T 7: 103,436,941 (GRCm39) P181H probably benign Het
Pkd1l1 T C 11: 8,897,224 (GRCm39) T562A Het
Ppp1r10 G A 17: 36,237,331 (GRCm39) R167Q possibly damaging Het
Ppp1r13l C T 7: 19,103,725 (GRCm39) R69W probably damaging Het
Proser2 G A 2: 6,105,580 (GRCm39) A328V probably benign Het
Rhou A G 8: 124,380,914 (GRCm39) Y77C possibly damaging Het
Rprml T A 11: 103,540,857 (GRCm39) L84Q probably damaging Het
Ryr3 C T 2: 112,477,271 (GRCm39) C4515Y probably benign Het
Slc9a3 T A 13: 74,306,994 (GRCm39) I373N possibly damaging Het
Snx21 C T 2: 164,634,231 (GRCm39) A339V probably benign Het
Srpk1 G A 17: 28,818,652 (GRCm39) P395S probably benign Het
Syt14 A T 1: 192,666,449 (GRCm39) S152T unknown Het
Urb2 G T 8: 124,755,751 (GRCm39) R486L probably damaging Het
Utrn T A 10: 12,702,564 (GRCm39) M7L probably benign Het
Vmn2r59 T A 7: 41,708,209 (GRCm39) D66V probably damaging Het
Znrf2 T C 6: 54,855,370 (GRCm39) I197T probably damaging Het
Other mutations in Htr1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:Htr1a APN 13 105,581,792 (GRCm39) missense possibly damaging 0.88
R0578:Htr1a UTSW 13 105,581,595 (GRCm39) missense probably damaging 1.00
R0919:Htr1a UTSW 13 105,581,344 (GRCm39) missense probably damaging 1.00
R0962:Htr1a UTSW 13 105,580,832 (GRCm39) missense probably benign 0.02
R1143:Htr1a UTSW 13 105,581,576 (GRCm39) missense probably benign
R1349:Htr1a UTSW 13 105,581,874 (GRCm39) nonsense probably null
R1550:Htr1a UTSW 13 105,581,788 (GRCm39) missense probably benign 0.09
R2520:Htr1a UTSW 13 105,581,881 (GRCm39) missense probably benign 0.43
R3794:Htr1a UTSW 13 105,580,852 (GRCm39) missense possibly damaging 0.59
R6679:Htr1a UTSW 13 105,581,936 (GRCm39) missense probably damaging 1.00
R6844:Htr1a UTSW 13 105,581,455 (GRCm39) missense possibly damaging 0.94
R7680:Htr1a UTSW 13 105,581,539 (GRCm39) missense probably benign
R8811:Htr1a UTSW 13 105,581,101 (GRCm39) missense probably damaging 0.99
R9046:Htr1a UTSW 13 105,581,816 (GRCm39) missense probably damaging 1.00
R9756:Htr1a UTSW 13 105,581,450 (GRCm39) missense probably damaging 1.00
Z1177:Htr1a UTSW 13 105,581,384 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGATCGAGGTGCATCGAGTG -3'
(R):5'- GCTGCGTGTTCTAGGAAAAG -3'

Sequencing Primer
(F):5'- TGCATCGAGTGGGCAAC -3'
(R):5'- AAGGGTCCTGTAAGCCCTAC -3'
Posted On 2022-11-14