Incidental Mutation 'R9652:Htr5a'
ID 735365
Institutional Source Beutler Lab
Gene Symbol Htr5a
Ensembl Gene ENSMUSG00000039106
Gene Name 5-hydroxytryptamine (serotonin) receptor 5A
Synonyms Htr5
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # R9652 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 27842149-27855088 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27842840 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 131 (N131S)
Ref Sequence ENSEMBL: ENSMUSP00000038884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036227]
AlphaFold P30966
Predicted Effect possibly damaging
Transcript: ENSMUST00000036227
AA Change: N131S

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000038884
Gene: ENSMUSG00000039106
AA Change: N131S

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
low complexity region 41 56 N/A INTRINSIC
Pfam:7tm_1 57 338 4.1e-71 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.6%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) has been implicated in a wide range of psychiatric conditions and also has vasoconstrictive and vasodilatory effects. The gene described in this record is a member of 5-hydroxytryptamine (serotonin) receptor family and encodes a multi-pass membrane protein that functions as a receptor for 5-hydroxytryptamine and couples to G-proteins. This protein has been shown to function in part through the regulation of intracellular Ca2+ mobilization. [provided by RefSeq, Jul 2008]
PHENOTYPE: The are conflicting reports about mice with homozygous null alleles regarding increased exploratory behavior and an abnormal exploratory behavior response to LSD. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l1 G A 18: 61,743,361 T395M probably damaging Het
Akap8l T C 17: 32,338,809 N35D probably damaging Het
Atr T A 9: 95,874,834 L922Q probably damaging Het
B3gnt9 G T 8: 105,254,497 F86L probably damaging Het
Bmp1 T C 14: 70,477,920 D925G probably damaging Het
C77080 T C 4: 129,224,169 E279G possibly damaging Het
Camkmt A T 17: 85,452,285 R284S probably benign Het
Cavin3 G T 7: 105,482,097 H21Q probably damaging Het
Ccp110 A G 7: 118,735,330 H180R Het
Cdh23 A T 10: 60,331,356 V1837E probably damaging Het
Ces3b G T 8: 105,085,625 A169S probably damaging Het
Chpt1 T C 10: 88,489,637 N122S probably benign Het
Cramp1l C A 17: 24,982,809 K566N probably damaging Het
Ctbp2 C G 7: 133,014,204 R334P probably damaging Het
Cwh43 T C 5: 73,414,997 S193P probably benign Het
Dcstamp A T 15: 39,760,396 D469V probably benign Het
Dst T A 1: 34,180,377 I1966N probably benign Het
Eif3i G T 4: 129,595,301 F121L probably benign Het
Erbb2 T C 11: 98,435,986 S1074P probably damaging Het
Fam186b G A 15: 99,279,735 A570V probably damaging Het
Fbn2 A G 18: 58,013,650 probably null Het
Foxo3 C T 10: 42,197,025 V499M probably damaging Het
Gm2a T C 11: 55,108,938 V95A probably benign Het
Gp5 A C 16: 30,309,575 F94V probably damaging Het
Gramd4 G A 15: 86,131,959 E504K probably damaging Het
Gusb A G 5: 129,997,811 S450P probably damaging Het
Itga2 G A 13: 114,884,455 P120L probably benign Het
Itpkb G T 1: 180,332,491 E61* probably null Het
Katnbl1 T A 2: 112,409,152 V232D probably damaging Het
Kifap3 T C 1: 163,862,088 L547P probably damaging Het
Krt6a C T 15: 101,690,685 V482M probably benign Het
Lrfn5 T A 12: 61,843,632 V569D probably damaging Het
Luzp2 A G 7: 55,052,832 T48A probably damaging Het
Mical2 G T 7: 112,346,789 R986L probably damaging Het
Mroh8 G A 2: 157,253,050 Q339* probably null Het
Msln A T 17: 25,749,068 V541E probably damaging Het
Muc16 T A 9: 18,586,882 M6590L probably benign Het
Nisch A T 14: 31,171,671 V1315E probably damaging Het
Nubp2 G A 17: 24,884,408 T165I probably damaging Het
Olfr1089 A T 2: 86,733,292 F107I probably damaging Het
Olfr13 A G 6: 43,174,057 M24V probably benign Het
Olfr57 T C 10: 79,035,396 I200T probably benign Het
Olfr682-ps1 A T 7: 105,126,778 N164K probably benign Het
Olfr820 T C 10: 130,017,940 I193T possibly damaging Het
Oog3 T G 4: 144,157,919 R482S probably benign Het
P3h4 A T 11: 100,413,673 C247* probably null Het
Palm2 G A 4: 57,710,125 A357T possibly damaging Het
Plch2 T A 4: 154,998,485 M569L probably benign Het
Plcl1 A G 1: 55,696,291 T264A probably benign Het
Rad51ap1 G T 6: 126,927,563 N178K probably benign Het
Rasa4 T C 5: 136,101,640 L340P probably damaging Het
Rassf10 A G 7: 112,955,577 T462A probably benign Het
Rlf G C 4: 121,150,668 L482V probably damaging Het
Robo1 T G 16: 73,024,442 S1357A possibly damaging Het
Rp1l1 T C 14: 64,032,265 S1767P probably damaging Het
Rpl3l T A 17: 24,728,354 L14Q probably damaging Het
Ryr3 T A 2: 112,804,702 T2024S possibly damaging Het
Sbf2 T C 7: 110,441,495 Q375R possibly damaging Het
Sema6a T C 18: 47,249,185 Q765R probably damaging Het
Senp6 T A 9: 80,113,946 Y303N probably damaging Het
Sertad4 C T 1: 192,846,528 D327N probably damaging Het
Slc22a15 T A 3: 101,883,532 Y219F possibly damaging Het
Slco1b2 T G 6: 141,648,632 probably null Het
Snrnp200 G T 2: 127,226,039 V819L probably damaging Het
Ssb C A 2: 69,870,440 A288E probably damaging Het
Syne2 A G 12: 76,054,846 H638R probably benign Het
Tm7sf3 A G 6: 146,626,200 S43P probably benign Het
Tmem200c A G 17: 68,842,186 H588R probably benign Het
Tnpo3 G A 6: 29,560,174 R657* probably null Het
Traf6 T C 2: 101,688,582 C139R probably damaging Het
Txnrd1 C A 10: 82,884,556 N424K possibly damaging Het
Ubqln3 T C 7: 104,142,755 I43V probably damaging Het
Usp32 A G 11: 85,030,491 V699A probably damaging Het
Vmn2r103 T C 17: 19,793,765 V273A probably benign Het
Vmn2r8 A G 5: 108,803,241 S113P probably benign Het
Wdr7 T A 18: 63,727,755 I161N probably damaging Het
Zfp474 A T 18: 52,638,943 I223F probably damaging Het
Zfp583 A G 7: 6,317,329 L228P probably damaging Het
Zfyve27 A G 19: 42,177,417 T76A possibly damaging Het
Other mutations in Htr5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Htr5a APN 5 27842744 missense probably benign 0.41
IGL02164:Htr5a APN 5 27842465 missense probably damaging 1.00
IGL02552:Htr5a APN 5 27842960 missense probably benign 0.00
IGL02636:Htr5a APN 5 27842660 missense probably damaging 1.00
R1023:Htr5a UTSW 5 27842998 missense possibly damaging 0.81
R1998:Htr5a UTSW 5 27850889 missense possibly damaging 0.95
R1999:Htr5a UTSW 5 27850889 missense possibly damaging 0.95
R2000:Htr5a UTSW 5 27850889 missense possibly damaging 0.95
R4134:Htr5a UTSW 5 27842692 missense probably benign 0.01
R4135:Htr5a UTSW 5 27842692 missense probably benign 0.01
R5378:Htr5a UTSW 5 27850995 missense probably damaging 1.00
R5421:Htr5a UTSW 5 27850987 missense possibly damaging 0.81
R6440:Htr5a UTSW 5 27850872 missense probably damaging 1.00
R7571:Htr5a UTSW 5 27842895 nonsense probably null
R7992:Htr5a UTSW 5 27850997 missense probably damaging 1.00
R9068:Htr5a UTSW 5 27850801 missense probably benign 0.00
R9651:Htr5a UTSW 5 27842840 missense possibly damaging 0.74
R9653:Htr5a UTSW 5 27842840 missense possibly damaging 0.74
RF009:Htr5a UTSW 5 27842861 missense probably damaging 1.00
Z1189:Htr5a UTSW 5 27851034 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGGCTACCATCCTCAAGGTAC -3'
(R):5'- TGACTTGGCATTCCTCACTGG -3'

Sequencing Primer
(F):5'- GTACGCACCTTCCACCGAG -3'
(R):5'- TTCCTCACTGGGCTCAGAATAAG -3'
Posted On 2022-11-14