Incidental Mutation 'R8811:Htr1a'
ID 672430
Institutional Source Beutler Lab
Gene Symbol Htr1a
Ensembl Gene ENSMUSG00000021721
Gene Name 5-hydroxytryptamine (serotonin) receptor 1A
Synonyms 5-HT1A receptor, Gpcr18
MMRRC Submission 068646-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8811 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 105580147-105584630 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 105581101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Proline at position 114 (A114P)
Ref Sequence ENSEMBL: ENSMUSP00000022235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022235]
AlphaFold Q64264
Predicted Effect probably damaging
Transcript: ENSMUST00000022235
AA Change: A114P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022235
Gene: ENSMUSG00000021721
AA Change: A114P

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (54/54)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T G 17: 24,536,212 (GRCm39) K485T probably benign Het
Abcc12 G T 8: 87,280,023 (GRCm39) L337M probably damaging Het
Adcy4 T C 14: 56,010,221 (GRCm39) D687G probably benign Het
Aldoc T A 11: 78,215,610 (GRCm39) I98N probably damaging Het
Aoah T A 13: 21,184,121 (GRCm39) V395D probably damaging Het
Arap1 C T 7: 101,036,403 (GRCm39) R397W probably damaging Het
Arl16 A T 11: 120,357,526 (GRCm39) M63K probably damaging Het
Atf7 T C 15: 102,502,144 (GRCm39) D4G probably damaging Het
Atp6v0d2 A T 4: 19,922,397 (GRCm39) V34D probably benign Het
Calhm4 T A 10: 33,917,661 (GRCm39) K263N probably benign Het
Camk1g C G 1: 193,044,408 (GRCm39) G2A probably damaging Het
Cenpe A G 3: 134,929,001 (GRCm39) T302A probably damaging Het
Cps1 T C 1: 67,253,246 (GRCm39) V1246A probably benign Het
Csmd3 T C 15: 47,560,139 (GRCm39) D1397G Het
Ddx39b T A 17: 35,463,435 (GRCm39) S115T probably benign Het
Dnaja3 C A 16: 4,514,383 (GRCm39) T305K probably benign Het
Dusp7 C G 9: 106,248,241 (GRCm39) H290D probably benign Het
Emilin2 T A 17: 71,582,282 (GRCm39) D148V possibly damaging Het
Erbin C T 13: 104,022,824 (GRCm39) R5Q probably damaging Het
Fam3b T C 16: 97,313,715 (GRCm39) probably benign Het
Foxn3 T C 12: 99,162,951 (GRCm39) S317G probably benign Het
Gipc1 T A 8: 84,388,919 (GRCm39) M177K possibly damaging Het
Grpel2 A C 18: 61,851,823 (GRCm39) probably benign Het
Iqch A T 9: 63,452,195 (GRCm39) M210K possibly damaging Het
Kdelr3 T C 15: 79,410,052 (GRCm39) I179T possibly damaging Het
Lat2 C T 5: 134,635,553 (GRCm39) probably benign Het
Mcrip1 A G 11: 120,435,605 (GRCm39) V10A probably damaging Het
Mib1 C T 18: 10,755,643 (GRCm39) L350F probably benign Het
Nhlrc2 T A 19: 56,583,344 (GRCm39) V605E probably benign Het
Nup133 AAGAGA AAGA 8: 124,638,627 (GRCm39) 900 probably null Het
Nutm2 A T 13: 50,623,989 (GRCm39) I229F probably benign Het
Or6f1 G A 7: 85,970,989 (GRCm39) T57M probably damaging Het
Phkb T C 8: 86,745,156 (GRCm39) V611A possibly damaging Het
Polg2 A T 11: 106,670,208 (GRCm39) Y21N probably benign Het
Prss28 T A 17: 25,528,627 (GRCm39) I23N probably benign Het
Ptprz1 G A 6: 23,030,661 (GRCm39) V1856I probably benign Het
Slc22a22 A T 15: 57,108,237 (GRCm39) I526N probably damaging Het
Slc24a4 T C 12: 102,180,133 (GRCm39) F68S probably damaging Het
Slc37a3 A G 6: 39,322,274 (GRCm39) S377P probably damaging Het
Smoc2 T C 17: 14,545,896 (GRCm39) S62P probably damaging Het
Sox4 A G 13: 29,136,911 (GRCm39) S32P probably damaging Het
Stxbp2 A T 8: 3,689,541 (GRCm39) Q426L Het
Synrg T G 11: 83,910,410 (GRCm39) S937A probably benign Het
Tbr1 C A 2: 61,642,196 (GRCm39) T487K possibly damaging Het
Tll2 T C 19: 41,195,012 (GRCm39) T25A probably benign Het
Trim31 T C 17: 37,210,875 (GRCm39) F169S probably benign Het
Tro G A X: 149,438,555 (GRCm39) S34L unknown Het
Tspear T C 10: 77,665,463 (GRCm39) F83S probably benign Het
Ubr5 C A 15: 38,041,123 (GRCm39) A254S Het
Ubtfl1 A G 9: 18,321,459 (GRCm39) E329G probably benign Het
Vmn2r45 A G 7: 8,474,881 (GRCm39) W716R probably damaging Het
Vmn2r67 T C 7: 84,799,895 (GRCm39) M448V probably damaging Het
Wwc2 T G 8: 48,336,579 (GRCm39) I228L possibly damaging Het
Zbtb20 T C 16: 43,430,857 (GRCm39) V383A probably benign 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
R9046:Htr1a UTSW 13 105,581,816 (GRCm39) missense probably damaging 1.00
R9741:Htr1a UTSW 13 105,581,861 (GRCm39) missense possibly damaging 0.91
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'- TGGGGACGCTCATTTTCTGC -3'
(R):5'- AGTAGATGGTGTACCCGTGGTC -3'

Sequencing Primer
(F):5'- CAATGCCTGCGTGGTTGC -3'
(R):5'- CCTTGCTGATGGTGCACTCG -3'
Posted On 2021-04-30