Incidental Mutation 'R6501:Htr2b'
ID 519709
Institutional Source Beutler Lab
Gene Symbol Htr2b
Ensembl Gene ENSMUSG00000026228
Gene Name 5-hydroxytryptamine (serotonin) receptor 2B
Synonyms 5-HT2B
MMRRC Submission 044633-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.510) question?
Stock # R6501 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 86026748-86039692 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 86038363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 11 (E11A)
Ref Sequence ENSEMBL: ENSMUSP00000116273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027431] [ENSMUST00000027432] [ENSMUST00000139715] [ENSMUST00000155077]
AlphaFold Q02152
Predicted Effect probably damaging
Transcript: ENSMUST00000027431
AA Change: E81A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027431
Gene: ENSMUSG00000026228
AA Change: E81A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 63 394 5.9e-12 PFAM
Pfam:7tm_1 70 379 4.5e-65 PFAM
low complexity region 447 465 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000027432
SMART Domains Protein: ENSMUSP00000027432
Gene: ENSMUSG00000026229

DomainStartEndE-ValueType
Pfam:PC_rep 441 474 5.1e-9 PFAM
Pfam:PC_rep 476 510 8.4e-8 PFAM
Pfam:PC_rep 511 545 1.1e-7 PFAM
Pfam:HEAT_2 599 693 3.3e-15 PFAM
Pfam:PC_rep 651 685 1.1e-11 PFAM
low complexity region 818 828 N/A INTRINSIC
low complexity region 837 872 N/A INTRINSIC
low complexity region 936 949 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139715
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152184
Predicted Effect probably damaging
Transcript: ENSMUST00000155077
AA Change: E11A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116273
Gene: ENSMUSG00000026228
AA Change: E11A

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 1 125 8.2e-8 PFAM
Pfam:7TM_GPCR_Srx 1 128 1.1e-6 PFAM
Pfam:7tm_1 1 172 6e-40 PFAM
Meta Mutation Damage Score 0.4075 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the several different receptors for 5-hydroxytryptamine (serotonin) that belongs to the G-protein coupled receptor 1 family. Serotonin is a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. Serotonin receptors mediate many of the central and peripheral physiologic functions of serotonin, including regulation of cardiovascular functions and impulsive behavior. Population and family-based analyses of a minor allele (glutamine-to-stop substitution, designated Q20*) which blocks expression of this protein, and knockout studies in mice, suggest a role for this gene in impulsivity. However, other factors, such as elevated testosterone levels, may also be involved. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit a lack of cardiac trabeculae, ventricular hypoplasia due to impaired myocyte proliferation, and midgestational and neonatal lethality of variable severity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A T 8: 71,914,165 (GRCm39) C154* probably null Het
Ada A G 2: 163,570,108 (GRCm39) probably null Het
Birc6 G A 17: 74,886,276 (GRCm39) V535I probably damaging Het
Bptf T C 11: 106,968,509 (GRCm39) N1058S probably null Het
Cdadc1 C T 14: 59,823,898 (GRCm39) C198Y probably benign Het
Chrna7 G A 7: 62,755,863 (GRCm39) R228C probably damaging Het
Cts6 T C 13: 61,344,149 (GRCm39) N301S probably damaging Het
Cts8 T A 13: 61,398,756 (GRCm39) D250V probably damaging Het
Cyp26a1 G T 19: 37,687,518 (GRCm39) R235L possibly damaging Het
Disc1 A T 8: 125,944,844 (GRCm39) M598L probably benign Het
Ear6 T A 14: 52,091,681 (GRCm39) V76D possibly damaging Het
Grifin A G 5: 140,549,036 (GRCm39) *145R probably null Het
Krtap4-9 T A 11: 99,676,255 (GRCm39) probably benign Het
Larp4b A C 13: 9,218,829 (GRCm39) H522P probably damaging Het
Macf1 A T 4: 123,363,425 (GRCm39) probably null Het
Mdfic T C 6: 15,770,516 (GRCm39) L174P possibly damaging Het
Mmp17 A G 5: 129,683,469 (GRCm39) E535G probably benign Het
Nfxl1 A T 5: 72,685,852 (GRCm39) probably null Het
Nynrin A T 14: 56,100,989 (GRCm39) T260S probably benign Het
Or4k44 C T 2: 111,368,124 (GRCm39) G170D probably damaging Het
Or7e168 A T 9: 19,720,271 (GRCm39) Y219F possibly damaging Het
Or8b1c A T 9: 38,384,585 (GRCm39) I181F possibly damaging Het
Pbx1 G T 1: 168,037,103 (GRCm39) D109E probably damaging Het
Pde4d A T 13: 109,253,476 (GRCm39) H101L probably benign Het
Pdlim3 T C 8: 46,361,639 (GRCm39) I155T possibly damaging Het
Plekha5 T A 6: 140,471,655 (GRCm39) Y26* probably null Het
Prpf6 T A 2: 181,263,713 (GRCm39) L191* probably null Het
Rabl6 A G 2: 25,492,459 (GRCm39) V80A possibly damaging Het
Rp1 T C 1: 4,381,503 (GRCm39) probably benign Het
Sec14l1 A G 11: 117,047,676 (GRCm39) S698G probably damaging Het
Skic2 A G 17: 35,063,412 (GRCm39) S622P possibly damaging Het
Slc19a1 G A 10: 76,885,440 (GRCm39) G447S probably benign Het
Slc2a6 A T 2: 26,913,143 (GRCm39) Y383* probably null Het
Slc9a9 C A 9: 94,818,424 (GRCm39) Q273K probably benign Het
Spint2 A G 7: 28,963,131 (GRCm39) Y56H probably damaging Het
Sspo T A 6: 48,472,146 (GRCm39) M123K possibly damaging Het
Syne2 A G 12: 76,074,621 (GRCm39) probably null Het
Trdn A C 10: 33,342,450 (GRCm39) K619N probably benign Het
Ttll13 A G 7: 79,899,924 (GRCm39) T119A possibly damaging Het
Ttn T C 2: 76,615,990 (GRCm39) Y8324C probably damaging Het
Ttn T C 2: 76,728,602 (GRCm39) probably benign Het
Vav2 A G 2: 27,186,231 (GRCm39) L208P probably damaging Het
Vmn1r179 A G 7: 23,628,342 (GRCm39) I178V probably benign Het
Vmn1r210 T C 13: 23,011,705 (GRCm39) M194V possibly damaging Het
Vmn2r103 A T 17: 20,032,166 (GRCm39) T647S probably benign Het
Wdr49 T A 3: 75,246,765 (GRCm39) H289L probably benign Het
Wnk2 T G 13: 49,300,159 (GRCm39) K184Q probably damaging Het
Zfp758 A G 17: 22,590,978 (GRCm39) probably benign Het
Other mutations in Htr2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02434:Htr2b APN 1 86,038,492 (GRCm39) missense probably benign
IGL03239:Htr2b APN 1 86,027,414 (GRCm39) missense probably damaging 1.00
IGL03303:Htr2b APN 1 86,027,061 (GRCm39) unclassified probably benign
P0035:Htr2b UTSW 1 86,038,452 (GRCm39) missense probably benign
R0655:Htr2b UTSW 1 86,038,565 (GRCm39) missense probably benign
R0748:Htr2b UTSW 1 86,038,528 (GRCm39) missense probably benign 0.00
R1311:Htr2b UTSW 1 86,038,346 (GRCm39) missense probably damaging 1.00
R1848:Htr2b UTSW 1 86,027,151 (GRCm39) missense possibly damaging 0.90
R1916:Htr2b UTSW 1 86,027,523 (GRCm39) missense probably damaging 1.00
R2938:Htr2b UTSW 1 86,030,177 (GRCm39) missense possibly damaging 0.74
R4959:Htr2b UTSW 1 86,027,813 (GRCm39) missense probably damaging 1.00
R6508:Htr2b UTSW 1 86,030,186 (GRCm39) missense possibly damaging 0.94
R6841:Htr2b UTSW 1 86,027,615 (GRCm39) missense probably benign 0.45
R8247:Htr2b UTSW 1 86,027,817 (GRCm39) missense probably benign
R8275:Htr2b UTSW 1 86,030,294 (GRCm39) missense probably damaging 1.00
R9098:Htr2b UTSW 1 86,027,481 (GRCm39) missense probably damaging 1.00
R9352:Htr2b UTSW 1 86,027,294 (GRCm39) missense probably benign 0.07
R9379:Htr2b UTSW 1 86,027,844 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGTCAGTGAGTGTCCATTTCAC -3'
(R):5'- TCACCAAAAGGCGAATGGC -3'

Sequencing Primer
(F):5'- AGTGAGTGTCCATTTCACTACGTTAG -3'
(R):5'- TACAGAAGACATGTGATCACCTG -3'
Posted On 2018-06-06