Incidental Mutation 'R5203:Htr7'
ID 398303
Institutional Source Beutler Lab
Gene Symbol Htr7
Ensembl Gene ENSMUSG00000024798
Gene Name 5-hydroxytryptamine (serotonin) receptor 7
Synonyms 5-HT7
MMRRC Submission 042778-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5203 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 35936134-36034907 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35941792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 464 (S464P)
Ref Sequence ENSEMBL: ENSMUSP00000097105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099505] [ENSMUST00000164639] [ENSMUST00000164781] [ENSMUST00000165215] [ENSMUST00000166074] [ENSMUST00000170360]
AlphaFold P32304
Predicted Effect probably benign
Transcript: ENSMUST00000099505
AA Change: S464P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000097105
Gene: ENSMUSG00000024798
AA Change: S464P

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T G 16: 4,653,462 (GRCm39) S4A unknown Het
Adgrv1 A T 13: 81,659,024 (GRCm39) N2053K possibly damaging Het
Akr1c13 C T 13: 4,247,896 (GRCm39) R223* probably null Het
Arhgef11 A G 3: 87,642,664 (GRCm39) Y1370C probably damaging Het
Arid1a T C 4: 133,409,314 (GRCm39) E1731G unknown Het
Cyp2c54 A T 19: 40,060,918 (GRCm39) V75E probably damaging Het
Fa2h A G 8: 112,075,996 (GRCm39) M209T probably benign Het
Fam171a1 T C 2: 3,224,582 (GRCm39) I311T probably damaging Het
Fat3 C A 9: 16,289,438 (GRCm39) L28F possibly damaging Het
Fntb C A 12: 76,884,346 (GRCm39) P22Q probably benign Het
Gmeb1 T C 4: 131,959,320 (GRCm39) probably null Het
Gpr22 A G 12: 31,759,787 (GRCm39) S112P probably damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Krt79 A G 15: 101,838,175 (GRCm39) S527P unknown Het
Lnpep A T 17: 17,757,325 (GRCm39) D858E probably damaging Het
Ly9 C A 1: 171,427,347 (GRCm39) V403F probably damaging Het
Mindy4 A G 6: 55,232,646 (GRCm39) Q363R probably benign Het
Mtmr10 G A 7: 63,967,909 (GRCm39) V273I probably benign Het
Mup2 T A 4: 60,139,728 (GRCm39) E20V probably damaging Het
Myo16 A G 8: 10,410,995 (GRCm39) N151S probably damaging Het
Nod2 A C 8: 89,391,079 (GRCm39) D462A probably damaging Het
Nt5c2 A G 19: 46,878,247 (GRCm39) Y497H probably damaging Het
Or12d2 A T 17: 37,625,092 (GRCm39) L61Q probably damaging Het
Or4k44 A C 2: 111,367,981 (GRCm39) Y218D probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhac1 A T 18: 37,224,243 (GRCm39) D352V probably damaging Het
Psap A G 10: 60,130,755 (GRCm39) D195G probably damaging Het
Scyl1 G A 19: 5,821,395 (GRCm39) probably benign Het
Sh3bgr A G 16: 96,025,720 (GRCm39) probably benign Het
Slc2a12 G T 10: 22,521,213 (GRCm39) probably null Het
Slc2a12 G C 10: 22,568,117 (GRCm39) V515L probably benign Het
Ttc17 T C 2: 94,209,061 (GRCm39) Y131C probably damaging Het
Ttc27 A G 17: 75,084,649 (GRCm39) D419G probably damaging Het
Ubxn8 T C 8: 34,123,639 (GRCm39) E100G probably damaging Het
Zpbp T C 11: 11,358,451 (GRCm39) E272G 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
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'- GAAACTATTTGTGGCAGTTCAAGTC -3'
(R):5'- ACATCCAGCTGTTTGGGTTC -3'

Sequencing Primer
(F):5'- GGCAGTTCAAGTCTATGAGTAAAATC -3'
(R):5'- ATCCAGCTGTTTGGGTTCCTCTG -3'
Posted On 2016-07-06