Incidental Mutation 'R1349:Htr1a'
ID 156618
Institutional Source Beutler Lab
Gene Symbol Htr1a
Ensembl Gene ENSMUSG00000021721
Gene Name 5-hydroxytryptamine (serotonin) receptor 1A
Synonyms 5-HT1A receptor, Gpcr18
MMRRC Submission 039414-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1349 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 105580147-105584630 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 105581874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 371 (C371*)
Ref Sequence ENSEMBL: ENSMUSP00000022235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022235]
AlphaFold Q64264
Predicted Effect probably null
Transcript: ENSMUST00000022235
AA Change: C371*
SMART Domains Protein: ENSMUSP00000022235
Gene: ENSMUSG00000021721
AA Change: C371*

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 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.8%
Validation Efficiency 98% (46/47)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik G A 8: 125,587,992 (GRCm39) T36I possibly damaging Het
Adcy2 T A 13: 68,816,652 (GRCm39) N778I probably damaging Het
Ak5 G T 3: 152,239,071 (GRCm39) D301E probably damaging Het
Akap13 G A 7: 75,259,340 (GRCm39) G655S possibly damaging Het
Ankrd28 A T 14: 31,467,218 (GRCm39) M248K probably benign Het
Atf7ip2 G A 16: 10,052,195 (GRCm39) V225I probably damaging Het
Ccdc157 A T 11: 4,099,056 (GRCm39) I48N probably benign Het
Cd209d C A 8: 3,928,515 (GRCm39) probably benign Het
Cecr2 G A 6: 120,734,564 (GRCm39) G613E probably damaging Het
Clspn C T 4: 126,457,770 (GRCm39) A98V probably benign Het
Cntnap5b G A 1: 100,091,813 (GRCm39) D499N probably benign Het
Cox7a2 G A 9: 79,665,819 (GRCm39) R21* probably null Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Dbpht2 C CNNNNNNNNNNNNNNNNNN 12: 74,345,836 (GRCm39) noncoding transcript Het
Dlg1 T C 16: 31,631,638 (GRCm39) I208T probably damaging Het
Dmxl1 A T 18: 50,021,920 (GRCm39) N1612Y probably damaging Het
Epha3 A G 16: 63,431,416 (GRCm39) I495T possibly damaging Het
Frem1 T C 4: 82,840,542 (GRCm39) probably benign Het
Glipr1 A G 10: 111,829,437 (GRCm39) V108A probably benign Het
Gpatch2l T C 12: 86,307,483 (GRCm39) L287P possibly damaging Het
Hp T G 8: 110,301,938 (GRCm39) K337Q probably benign Het
Leo1 T C 9: 75,356,751 (GRCm39) V377A possibly damaging Het
Lsg1 A G 16: 30,383,472 (GRCm39) F583L possibly damaging Het
Map4k4 C A 1: 40,060,319 (GRCm39) P1103Q probably damaging Het
Mybph T C 1: 134,121,353 (GRCm39) S38P probably benign Het
Myo1e T G 9: 70,194,351 (GRCm39) probably benign Het
Nefh T TNNNNNNNNNNNNNNNNNN 11: 4,891,010 (GRCm39) probably benign Het
Oca2 T A 7: 56,185,716 (GRCm39) M814K probably benign Het
Odad3 C T 9: 21,904,916 (GRCm39) R290H probably damaging Het
Pkd1 T C 17: 24,794,240 (GRCm39) C1976R probably damaging Het
Pogz T A 3: 94,768,199 (GRCm39) L126M probably damaging Het
Rec8 T C 14: 55,856,431 (GRCm39) Y68H probably damaging Het
Ryr3 T A 2: 112,664,546 (GRCm39) S1582C probably damaging Het
Sh3pxd2a A T 19: 47,256,160 (GRCm39) W853R probably damaging Het
Slc6a7 C T 18: 61,133,615 (GRCm39) G527D probably benign Het
Spopfm1 A G 3: 94,173,435 (GRCm39) T148A possibly damaging Het
Tgm1 A G 14: 55,948,658 (GRCm39) probably benign Het
Tnxb T C 17: 34,929,267 (GRCm39) V2770A possibly damaging Het
Togaram1 T A 12: 65,057,919 (GRCm39) M1502K probably damaging Het
Vmn1r11 G A 6: 57,114,963 (GRCm39) C209Y probably benign Het
Vmn2r102 A T 17: 19,880,887 (GRCm39) probably benign Het
Vmn2r12 T C 5: 109,234,452 (GRCm39) M587V probably benign Het
Vmn2r63 A G 7: 42,578,642 (GRCm39) F84L possibly damaging Het
Wdr35 A T 12: 9,069,870 (GRCm39) probably benign Het
Wdr73 C A 7: 80,543,000 (GRCm39) V176L 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
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'- CCAAGAAGAGCCTGAATGGTCAGC -3'
(R):5'- TCATCAGCGGCAGAACTTGCAC -3'

Sequencing Primer
(F):5'- GAATCAGGAGCTACCTCCTATGTC -3'
(R):5'- CGGCAGAACTTGCACTTGATG -3'
Posted On 2014-02-11