Incidental Mutation 'R2316:Htr7'
ID 245517
Institutional Source Beutler Lab
Gene Symbol Htr7
Ensembl Gene ENSMUSG00000024798
Gene Name 5-hydroxytryptamine (serotonin) receptor 7
Synonyms 5-HT7
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2316 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 35936134-36034907 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 35946703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000126150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099505] [ENSMUST00000164639] [ENSMUST00000164781] [ENSMUST00000165215] [ENSMUST00000166074] [ENSMUST00000170360]
AlphaFold P32304
Predicted Effect probably benign
Transcript: ENSMUST00000099505
SMART Domains Protein: ENSMUSP00000097105
Gene: ENSMUSG00000024798

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 95 402 2.3e-9 PFAM
Pfam:7tm_1 101 387 4.8e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164639
SMART Domains Protein: ENSMUSP00000126847
Gene: ENSMUSG00000024798

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 95 402 1.3e-9 PFAM
Pfam:7tm_1 101 387 1.7e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164781
SMART Domains Protein: ENSMUSP00000131912
Gene: ENSMUSG00000024798

DomainStartEndE-ValueType
low complexity region 90 99 N/A INTRINSIC
Pfam:7tm_1 101 185 2.8e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165215
SMART Domains Protein: ENSMUSP00000128386
Gene: ENSMUSG00000024798

DomainStartEndE-ValueType
low complexity region 90 99 N/A INTRINSIC
Pfam:7tm_1 101 183 7.1e-30 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000166074
SMART Domains Protein: ENSMUSP00000126150
Gene: ENSMUSG00000024798

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 95 402 2.7e-9 PFAM
Pfam:7tm_1 101 387 5.6e-82 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170360
SMART Domains Protein: ENSMUSP00000131517
Gene: ENSMUSG00000024798

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 95 247 9.6e-9 PFAM
Pfam:7tm_1 101 252 1.4e-49 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The neurotransmitter, serotonin, is thought to play a role in various cognitive and behavioral functions. The serotonin receptor encoded by this gene belongs to the superfamily of G protein-coupled receptors and the gene is a candidate locus for involvement in autistic disorder and other neuropsychiatric disorders. Three splice variants have been identified which encode proteins that differ in the length of their carboxy terminal ends. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display lower electrically- and chemically-induced seizure thresholds. Mice homozygous for a different knock-out allele show enhanced coordination and higher thermal nociceptive thresholds. Other nullizygous mutantsfail to exhibit agonist-induced hypothermia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563I02Rik A G 14: 60,333,519 (GRCm39) probably benign Het
Acaca T C 11: 84,154,906 (GRCm39) M987T probably benign Het
Acaca A G 11: 84,185,809 (GRCm39) T115A possibly damaging Het
Aknad1 A T 3: 108,688,472 (GRCm39) D600V probably damaging Het
Arfgef3 T A 10: 18,492,701 (GRCm39) T1237S probably benign Het
Brd4 A T 17: 32,431,884 (GRCm39) L660Q probably benign Het
Casp1 A G 9: 5,306,213 (GRCm39) D366G possibly damaging Het
Casp8ap2 C A 4: 32,643,781 (GRCm39) S951R probably benign Het
Chd9 A G 8: 91,777,756 (GRCm39) E2589G probably damaging Het
Dchs1 T C 7: 105,413,411 (GRCm39) T1135A possibly damaging Het
Dnhd1 T C 7: 105,323,628 (GRCm39) V633A probably damaging Het
Dock6 G T 9: 21,750,973 (GRCm39) H400Q probably damaging Het
Dzip1 A G 14: 119,138,952 (GRCm39) F426L probably benign Het
Elovl4 A G 9: 83,662,826 (GRCm39) S236P probably damaging Het
Emp1 T C 6: 135,357,123 (GRCm39) F67S probably damaging Het
Garnl3 A G 2: 32,895,164 (GRCm39) L635P probably damaging Het
Kcnd3 A C 3: 105,576,442 (GRCm39) S629R probably benign Het
Lrp2 T A 2: 69,322,191 (GRCm39) I1913F possibly damaging Het
Med19 T A 2: 84,516,587 (GRCm39) D208E probably benign Het
Mettl21c A T 1: 44,052,792 (GRCm39) V75E probably damaging Het
Nhsl3 T C 4: 129,117,540 (GRCm39) T375A probably damaging Het
Nsd1 A T 13: 55,381,779 (GRCm39) R64S probably damaging Het
Or10g3b A G 14: 52,587,395 (GRCm39) I36T probably benign Het
Or51v8 A T 7: 103,319,674 (GRCm39) I188N probably damaging Het
Or5p50 T A 7: 107,422,007 (GRCm39) Y223F probably benign Het
Peds1 T A 2: 167,496,635 (GRCm39) Q46L possibly damaging Het
Plat T A 8: 23,266,881 (GRCm39) M291K probably benign Het
Psmb4 T C 3: 94,792,322 (GRCm39) E200G probably benign Het
Reln T C 5: 22,359,954 (GRCm39) Y190C probably benign Het
Rp1 A G 1: 4,415,863 (GRCm39) S1750P probably damaging Het
Slc5a4a T A 10: 76,013,915 (GRCm39) probably null Het
Sobp A T 10: 43,034,034 (GRCm39) N97K possibly damaging Het
Stac3 T C 10: 127,339,229 (GRCm39) probably null Het
Stat5b G T 11: 100,687,318 (GRCm39) T436K probably damaging Het
Tas1r3 A T 4: 155,947,772 (GRCm39) M7K probably benign Het
Vps13b C T 15: 35,675,045 (GRCm39) Q1722* probably null Het
Zfp677 A T 17: 21,617,582 (GRCm39) Y213F probably benign Het
Other mutations in Htr7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02683:Htr7 APN 19 35,937,762 (GRCm39) missense probably benign 0.00
R0009:Htr7 UTSW 19 36,018,940 (GRCm39) intron probably benign
R0318:Htr7 UTSW 19 35,946,886 (GRCm39) missense probably damaging 1.00
R1695:Htr7 UTSW 19 35,947,136 (GRCm39) missense probably benign 0.01
R3973:Htr7 UTSW 19 36,034,160 (GRCm39) missense probably damaging 1.00
R5041:Htr7 UTSW 19 36,034,467 (GRCm39) missense probably benign 0.10
R5203:Htr7 UTSW 19 35,941,792 (GRCm39) missense probably benign 0.00
R5236:Htr7 UTSW 19 36,034,169 (GRCm39) missense probably damaging 1.00
R5538:Htr7 UTSW 19 35,947,235 (GRCm39) missense probably benign 0.34
R5682:Htr7 UTSW 19 35,947,271 (GRCm39) missense probably damaging 1.00
R5683:Htr7 UTSW 19 35,947,271 (GRCm39) missense probably damaging 1.00
R5684:Htr7 UTSW 19 35,947,271 (GRCm39) missense probably damaging 1.00
R5686:Htr7 UTSW 19 35,947,271 (GRCm39) missense probably damaging 1.00
R5694:Htr7 UTSW 19 36,034,521 (GRCm39) missense probably benign 0.00
R6273:Htr7 UTSW 19 36,018,969 (GRCm39) intron probably benign
R6502:Htr7 UTSW 19 35,947,010 (GRCm39) missense probably damaging 1.00
R6558:Htr7 UTSW 19 36,034,640 (GRCm39) missense probably damaging 1.00
R6884:Htr7 UTSW 19 35,941,779 (GRCm39) critical splice donor site probably null
R7074:Htr7 UTSW 19 36,034,283 (GRCm39) missense probably damaging 0.99
R7592:Htr7 UTSW 19 36,034,292 (GRCm39) missense probably damaging 1.00
R9067:Htr7 UTSW 19 36,034,490 (GRCm39) missense probably benign
R9338:Htr7 UTSW 19 35,941,780 (GRCm39) critical splice donor site probably null
R9783:Htr7 UTSW 19 35,946,787 (GRCm39) missense probably damaging 1.00
X0064:Htr7 UTSW 19 36,034,155 (GRCm39) missense possibly damaging 0.70
Z1176:Htr7 UTSW 19 35,946,823 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAAATACCAACCTGTCTTGTGG -3'
(R):5'- TGGGCTATGCAAACTCTCTC -3'

Sequencing Primer
(F):5'- ACCTGTCTTGTGGGTTCTTTAAAAC -3'
(R):5'- GGGCTATGCAAACTCTCTCATTAAC -3'
Posted On 2014-10-30