Incidental Mutation 'R5684:Htr7'
ID 443256
Institutional Source Beutler Lab
Gene Symbol Htr7
Ensembl Gene ENSMUSG00000024798
Gene Name 5-hydroxytryptamine (serotonin) receptor 7
Synonyms 5-HT7
MMRRC Submission 043178-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5684 (G1)
Quality Score 113
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: 94.2%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik A G 5: 115,017,621 (GRCm39) D144G possibly damaging Het
AU040320 A G 4: 126,685,939 (GRCm39) T172A probably benign Het
Bspry T C 4: 62,414,519 (GRCm39) F371L possibly damaging Het
Cacna1c A G 6: 118,664,005 (GRCm39) F555L probably damaging Het
Colec12 T C 18: 9,849,009 (GRCm39) S396P probably damaging Het
Creb3l1 A G 2: 91,821,076 (GRCm39) V336A probably damaging Het
Crocc T C 4: 140,778,455 (GRCm39) N85S probably damaging Het
Dcbld2 T C 16: 58,270,172 (GRCm39) S278P possibly damaging Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Ercc4 T A 16: 12,948,465 (GRCm39) C561S probably benign Het
Gab1 T C 8: 81,496,299 (GRCm39) K637R probably damaging Het
Grm5 T C 7: 87,779,853 (GRCm39) S1130P probably benign Het
H2-M10.6 A T 17: 37,124,746 (GRCm39) N221I probably damaging Het
Kcnh5 T A 12: 75,184,423 (GRCm39) K100I probably damaging Het
Mgat4f A G 1: 134,317,660 (GRCm39) D144G probably benign Het
Naip6 T A 13: 100,436,888 (GRCm39) Q545L probably damaging Het
Nkpd1 C T 7: 19,257,498 (GRCm39) Q276* probably null Het
Or13c7d T C 4: 43,770,624 (GRCm39) N129S probably benign Het
Or5p63 A T 7: 107,811,279 (GRCm39) Y152* probably null Het
Or5p64 A T 7: 107,855,246 (GRCm39) I33N possibly damaging Het
Pidd1 A T 7: 141,021,024 (GRCm39) probably null Het
Plec A G 15: 76,089,796 (GRCm39) probably null Het
Plekhh2 C T 17: 84,905,346 (GRCm39) A1080V probably damaging Het
Plppr3 A T 10: 79,701,151 (GRCm39) S564T possibly damaging Het
Ppp2ca A G 11: 52,004,154 (GRCm39) K104E probably damaging Het
Rad54l T A 4: 115,957,760 (GRCm39) K407M probably damaging Het
Sfn T A 4: 133,328,603 (GRCm39) K160* probably null Het
Slc22a15 A G 3: 101,770,271 (GRCm39) S439P probably damaging Het
Slc6a2 T A 8: 93,715,681 (GRCm39) V273D probably damaging Het
Slc9a9 T C 9: 94,937,561 (GRCm39) F471S possibly damaging Het
Smc3 A G 19: 53,629,235 (GRCm39) E896G probably benign Het
Sorbs3 C T 14: 70,418,671 (GRCm39) R717Q probably damaging Het
Spg11 T C 2: 121,923,984 (GRCm39) E779G probably damaging Het
Spg7 T C 8: 123,800,623 (GRCm39) V66A probably damaging Het
Trmt11 A G 10: 30,423,706 (GRCm39) S400P probably damaging Het
Trpc6 T C 9: 8,653,129 (GRCm39) V567A probably damaging Het
Vmn2r103 T G 17: 20,013,251 (GRCm39) I124S probably benign Het
Vps13a A T 19: 16,676,409 (GRCm39) M1188K probably benign Het
Vtn G A 11: 78,391,384 (GRCm39) G266S probably damaging Het
Yeats2 T C 16: 20,012,553 (GRCm39) S640P possibly damaging Het
Zc3hav1 A T 6: 38,288,214 (GRCm39) M874K 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
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'- TGCTAGGTACCTTGGGATCACC -3'

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