Incidental Mutation 'R5683:Htr7'
ID 443213
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 # R5683 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 35936134-36034907 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 35947271 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 248 (A248S)
Ref Sequence ENSEMBL: ENSMUSP00000131517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099505] [ENSMUST00000164639] [ENSMUST00000164781] [ENSMUST00000165215] [ENSMUST00000166074] [ENSMUST00000170360]
AlphaFold P32304
Predicted Effect probably damaging
Transcript: ENSMUST00000099505
AA Change: A248S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097105
Gene: ENSMUSG00000024798
AA Change: A248S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 95 402 2.3e-9 PFAM
Pfam:7tm_1 101 387 4.8e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164639
AA Change: A248S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126847
Gene: ENSMUSG00000024798
AA Change: A248S

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 damaging
Transcript: ENSMUST00000166074
AA Change: A248S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126150
Gene: ENSMUSG00000024798
AA Change: A248S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 95 402 2.7e-9 PFAM
Pfam:7tm_1 101 387 5.6e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170360
AA Change: A248S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000131517
Gene: ENSMUSG00000024798
AA Change: A248S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 95 247 9.6e-9 PFAM
Pfam:7tm_1 101 252 1.4e-49 PFAM
Meta Mutation Damage Score 0.0862 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.0%
  • 20x: 94.0%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A C 11: 72,093,266 (GRCm39) M22R probably benign Het
Acad11 A G 9: 103,961,482 (GRCm39) E397G probably damaging Het
Actrt3 A T 3: 30,652,427 (GRCm39) D222E probably benign Het
Akap11 A T 14: 78,750,018 (GRCm39) S790T probably damaging Het
Arhgap5 T A 12: 52,566,369 (GRCm39) D1113E probably benign Het
Arl2 C A 19: 6,184,794 (GRCm39) R153L probably benign Het
B3glct T A 5: 149,619,902 (GRCm39) M19K probably benign Het
Ccdc138 C A 10: 58,376,641 (GRCm39) Q425K probably damaging Het
Ccdc178 T A 18: 22,263,179 (GRCm39) K143N probably benign Het
Cd200r4 T A 16: 44,653,311 (GRCm39) I73K probably benign Het
Chaf1b A G 16: 93,684,030 (GRCm39) K94E possibly damaging Het
Cmtm2a T C 8: 105,019,676 (GRCm39) probably null Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Fnbp4 C A 2: 90,583,206 (GRCm39) N277K probably damaging Het
Itsn1 T C 16: 91,702,268 (GRCm39) Y37H probably benign Het
Kdm8 A G 7: 125,054,345 (GRCm39) Y16C possibly damaging Het
Kif1b A T 4: 149,306,718 (GRCm39) Y881N probably damaging Het
Lhcgr C T 17: 89,079,447 (GRCm39) V80I probably benign Het
Lrriq1 T A 10: 103,009,236 (GRCm39) L1082F probably damaging Het
Met A G 6: 17,571,743 (GRCm39) Y1354C probably damaging Het
Nbea A G 3: 55,536,007 (GRCm39) L2859P possibly damaging Het
Ndufaf5 T A 2: 140,044,843 (GRCm39) M279K possibly damaging Het
Nlrp4e T C 7: 23,052,697 (GRCm39) I872T probably damaging Het
Npnt A T 3: 132,612,601 (GRCm39) probably null Het
Nsd1 G A 13: 55,393,961 (GRCm39) V521I probably benign Het
Or2n1e G A 17: 38,586,437 (GRCm39) M258I possibly damaging Het
Pak6 T A 2: 118,524,393 (GRCm39) Y469N probably damaging Het
Parp4 C T 14: 56,884,886 (GRCm39) R1322* probably null Het
Pax6 T C 2: 105,516,252 (GRCm39) Y177H probably benign Het
Pcdhb4 A T 18: 37,442,042 (GRCm39) T451S probably benign Het
Pcdhgb5 A T 18: 37,864,907 (GRCm39) D234V probably damaging Het
Pramel11 A G 4: 143,622,423 (GRCm39) S311P probably damaging Het
Ralb G A 1: 119,403,686 (GRCm39) A147V possibly damaging Het
Rgs11 A G 17: 26,424,155 (GRCm39) K196E probably benign Het
Rnft1 A T 11: 86,382,616 (GRCm39) T280S probably benign Het
Slco4c1 G T 1: 96,795,559 (GRCm39) H166Q probably damaging Het
Sycp3 T C 10: 88,308,797 (GRCm39) S248P probably damaging Het
Tab2 A G 10: 7,794,876 (GRCm39) probably null Het
Tgm6 T C 2: 129,980,875 (GRCm39) M224T probably damaging Het
Topbp1 A T 9: 103,190,003 (GRCm39) E193V possibly damaging Het
Trim36 T C 18: 46,302,359 (GRCm39) Y551C probably damaging Het
Ttc17 T C 2: 94,192,866 (GRCm39) Y628C probably damaging Het
Vmn1r180 A C 7: 23,652,635 (GRCm39) D266A possibly damaging Het
Vmn2r104 T A 17: 20,260,981 (GRCm39) K481* probably null Het
Zc3hav1 A G 6: 38,284,172 (GRCm39) V981A probably damaging 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
R2316:Htr7 UTSW 19 35,946,703 (GRCm39) critical splice donor site probably null
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
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'- GTGTTTGAGCAGTCTCGAAAG -3'
(R):5'- TGCTAGGTACCTTGGGATCAC -3'

Sequencing Primer
(F):5'- GAAAGGTTCGCACACTCTTC -3'
(R):5'- GGATCACCAGGCCCCTCAC -3'
Posted On 2016-11-09