Incidental Mutation 'R0919:Htr1a'
ID 82789
Institutional Source Beutler Lab
Gene Symbol Htr1a
Ensembl Gene ENSMUSG00000021721
Gene Name 5-hydroxytryptamine (serotonin) receptor 1A
Synonyms 5-HT1A receptor, Gpcr18
MMRRC Submission 039069-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0919 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 105580147-105584630 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105581344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 195 (Y195H)
Ref Sequence ENSEMBL: ENSMUSP00000022235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022235]
AlphaFold Q64264
Predicted Effect probably damaging
Transcript: ENSMUST00000022235
AA Change: Y195H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022235
Gene: ENSMUSG00000021721
AA Change: Y195H

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
Meta Mutation Damage Score 0.9105 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 96% (43/45)
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
Alpk2 C A 18: 65,440,544 (GRCm39) C283F probably benign Het
Anapc1 T C 2: 128,459,651 (GRCm39) R1803G probably benign Het
Anapc4 T C 5: 53,012,979 (GRCm39) V423A probably benign Het
Arfgef3 A G 10: 18,465,483 (GRCm39) I2120T possibly damaging Het
Btaf1 T A 19: 36,968,143 (GRCm39) H1109Q probably benign Het
Cfap418 A G 4: 10,882,462 (GRCm39) T124A probably benign Het
Cfap70 G A 14: 20,454,232 (GRCm39) P851S probably benign Het
Clcf1 T A 19: 4,272,252 (GRCm39) L103Q probably damaging Het
Col11a2 T A 17: 34,278,124 (GRCm39) V1032E possibly damaging Het
Cyp2c38 T G 19: 39,393,113 (GRCm39) D318A probably benign Het
Dbpht2 A G 12: 74,345,774 (GRCm39) noncoding transcript Het
Dhx34 A C 7: 15,935,883 (GRCm39) V893G probably damaging Het
Fsip2 T A 2: 82,815,828 (GRCm39) C3854S possibly damaging Het
Insr A G 8: 3,208,769 (GRCm39) S1231P probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Kpna4 A T 3: 68,993,161 (GRCm39) probably benign Het
Or52d13 A G 7: 103,110,019 (GRCm39) I132T probably damaging Het
Or52e8 A T 7: 104,624,519 (GRCm39) Y228* probably null Het
Or5m3 A G 2: 85,838,984 (GRCm39) Y288C possibly damaging Het
Osbpl7 G A 11: 96,946,927 (GRCm39) R239H possibly damaging Het
Prkce G A 17: 86,937,588 (GRCm39) V674I probably benign Het
Prkrip1 T C 5: 136,226,685 (GRCm39) M52V possibly damaging Het
Sash1 A G 10: 8,605,843 (GRCm39) M849T probably benign Het
Scaf8 T C 17: 3,247,395 (GRCm39) L906S probably damaging Het
Sfmbt2 T C 2: 10,582,382 (GRCm39) L676P probably benign Het
Sgsm1 C T 5: 113,406,708 (GRCm39) V923I probably damaging Het
Slc38a3 A T 9: 107,533,158 (GRCm39) L305Q probably damaging Het
Slc44a5 A G 3: 153,949,223 (GRCm39) Y232C probably damaging Het
Spag17 A T 3: 99,979,259 (GRCm39) probably benign Het
Synm T C 7: 67,385,095 (GRCm39) I414V probably damaging Het
Tbc1d12 C T 19: 38,902,493 (GRCm39) H551Y possibly damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Trpc7 C T 13: 56,970,462 (GRCm39) probably benign Het
Trpm7 G A 2: 126,673,158 (GRCm39) R532C probably damaging Het
Ttn T A 2: 76,777,086 (GRCm39) K1485* probably null Het
Txn2 T C 15: 77,811,949 (GRCm39) D69G probably damaging Het
U2af2 C T 7: 5,072,433 (GRCm39) probably benign Het
Ubn1 T C 16: 4,882,255 (GRCm39) Y239H probably damaging Het
Ubtf A G 11: 102,200,603 (GRCm39) probably benign Het
Usp49 T A 17: 47,983,376 (GRCm39) V127D probably benign Het
Washc2 C T 6: 116,185,225 (GRCm39) R20W probably damaging Het
Zscan10 T C 17: 23,828,981 (GRCm39) S476P 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
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
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'- TGGGCAATCACCGACCCTATAGAC -3'
(R):5'- TGCTCTCACAGAAAGGTAGGACCAG -3'

Sequencing Primer
(F):5'- CCCTATAGACTACGTGAACAAGAGG -3'
(R):5'- ACATAGGAGGTAGCTCCTGATTC -3'
Posted On 2013-11-08