Incidental Mutation 'R9338:Htr7'
ID 707337
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 # R9338 (G1)
Quality Score 225.009
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 T at 35941780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099505] [ENSMUST00000099505] [ENSMUST00000099505] [ENSMUST00000164639] [ENSMUST00000164781] [ENSMUST00000165215] [ENSMUST00000166074] [ENSMUST00000170360]
AlphaFold P32304
Predicted Effect probably null
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 null
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 null
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 benign
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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Adam30 G A 3: 98,070,129 (GRCm39) G654D probably damaging Het
Cct3 T C 3: 88,225,706 (GRCm39) V343A probably benign Het
Col11a2 A G 17: 34,266,204 (GRCm39) T358A unknown Het
Cox6a2 T C 7: 127,804,914 (GRCm39) Y94C probably damaging Het
Cubn T A 2: 13,386,703 (GRCm39) I1521F probably damaging Het
Dclk3 C A 9: 111,268,373 (GRCm39) A14E unknown Het
Dlgap2 T C 8: 14,229,683 (GRCm39) probably null Het
Dop1b C A 16: 93,600,448 (GRCm39) Q2042K probably damaging Het
Ech1 A G 7: 28,525,427 (GRCm39) S61G probably null Het
Ext2 T A 2: 93,526,603 (GRCm39) N678Y probably damaging Het
Fgfr2 G T 7: 129,863,561 (GRCm39) C28* probably null Het
Gon4l C A 3: 88,809,019 (GRCm39) D1754E probably benign Het
Hivep2 T A 10: 14,004,693 (GRCm39) C430* probably null Het
Idh3b A T 2: 130,122,392 (GRCm39) M331K probably damaging Het
Ighv2-7 A T 12: 113,771,118 (GRCm39) F56I probably benign Het
Inpp5k C T 11: 75,536,411 (GRCm39) H330Y probably damaging Het
Kif26b T C 1: 178,744,058 (GRCm39) Y1385H probably damaging Het
Mad1l1 A G 5: 140,074,561 (GRCm39) L543P probably damaging Het
Mdn1 A T 4: 32,666,536 (GRCm39) H158L probably benign Het
Mpp2 T A 11: 101,951,249 (GRCm39) T511S probably benign Het
Msantd5f6 T C 4: 73,320,245 (GRCm39) E178G possibly damaging Het
Msh4 T C 3: 153,573,444 (GRCm39) I737V possibly damaging Het
Myo15b T C 11: 115,762,238 (GRCm39) L1186P Het
Nckap1l A G 15: 103,379,991 (GRCm39) T346A probably benign Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Npy5r T C 8: 67,134,658 (GRCm39) N45S probably benign Het
Or6c202 T C 10: 128,996,610 (GRCm39) N81S probably benign Het
Pde6a G A 18: 61,354,109 (GRCm39) A145T probably damaging Het
Pfkp A C 13: 6,634,724 (GRCm39) S678A probably damaging Het
Phxr2 A G 10: 98,962,043 (GRCm39) probably benign Het
Pi4ka C A 16: 17,135,227 (GRCm39) L942F Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pla2g4e T A 2: 120,019,914 (GRCm39) T179S probably benign Het
Popdc2 G A 16: 38,194,509 (GRCm39) C310Y probably benign Het
Ppip5k1 C T 2: 121,153,827 (GRCm39) R113Q Het
Prmt7 C T 8: 106,961,665 (GRCm39) R193C unknown Het
Prph G C 15: 98,955,359 (GRCm39) R442P probably damaging Het
Prrc2b A G 2: 32,098,779 (GRCm39) Y697C probably damaging Het
Ptprm T A 17: 67,069,143 (GRCm39) R962S probably damaging Het
Raph1 A G 1: 60,529,300 (GRCm39) S654P unknown Het
Reln A G 5: 22,202,937 (GRCm39) F1288L probably damaging Het
Rhot1 T A 11: 80,145,568 (GRCm39) I553N probably benign Het
Rnf168 T C 16: 32,110,801 (GRCm39) probably null Het
Slamf6 T A 1: 171,747,157 (GRCm39) probably benign Het
Srgap1 CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC 10: 121,689,458 (GRCm39) probably benign Het
Taf4b C T 18: 14,954,555 (GRCm39) P544S probably benign Het
Tbc1d24 A G 17: 24,427,377 (GRCm39) V195A probably benign Het
Tomm70a A G 16: 56,942,399 (GRCm39) M59V probably benign Het
Trip12 A G 1: 84,727,019 (GRCm39) S1184P probably damaging Het
Trrap A G 5: 144,727,925 (GRCm39) S549G probably benign Het
Unc5d T A 8: 29,709,471 (GRCm39) probably benign Het
Ush2a G A 1: 188,308,489 (GRCm39) probably null Het
Usp45 T C 4: 21,784,755 (GRCm39) V147A probably damaging Het
Vmn2r77 T A 7: 86,460,994 (GRCm39) N773K probably damaging Het
Vps13c A T 9: 67,858,977 (GRCm39) N2809I probably damaging Het
Yeats2 T A 16: 20,032,078 (GRCm39) S984R possibly damaging Het
Yeats2 T A 16: 20,041,533 (GRCm39) L1141Q probably damaging Het
Zfp58 T A 13: 67,639,394 (GRCm39) T366S 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
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
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
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'- TGGCATGATAGAAACTATTTGTGGC -3'
(R):5'- CATCCAGCTGTTTGGGTTCC -3'

Sequencing Primer
(F):5'- GAAACTATTTGTGGCAGTTCAAGTC -3'
(R):5'- GTGTATGTTTGCTTCTTGCTCAC -3'
Posted On 2022-04-18