Mutagenetix > Incidental Mutation

Incidental Mutation 'R6782:Htr5b'

531439

Institutional Source

Beutler Lab

Gene Symbol

Htr5b

Ensembl Gene

ENSMUSG00000050534

Gene Name

5-hydroxytryptamine (serotonin) receptor 5B

Synonyms

MMRRC Submission

044896-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6782 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121437571-121456194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121438227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 335 (I335V)

Ref Sequence

ENSEMBL: ENSMUSP00000057212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036025] [ENSMUST00000055884]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000036025

SMART Domains

Protein: ENSMUSP00000043442
Gene: ENSMUSG00000026339

Domain	Start	End	E-Value	Type
Pfam:KOG2701	27	206	2e-81	PFAM
coiled coil region	316	426	N/A	INTRINSIC
coiled coil region	558	599	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000055884
AA Change: I335V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000057212
Gene: ENSMUSG00000050534
AA Change: I335V

Domain	Start	End	E-Value	Type
low complexity region	16	38	N/A	INTRINSIC
Pfam:7TM_GPCR_Srsx	62	366	1e-7	PFAM
Pfam:7tm_1	69	351	1.7e-66	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,847,308 (GRCm39)	A724V	probably damaging	Het
Abcc3	A	T	11: 94,249,776 (GRCm39)	F1055L	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Ankrd17	T	C	5: 90,402,597 (GRCm39)	K1488R	possibly damaging	Het
Ano1	G	A	7: 144,175,424 (GRCm39)	T498I	probably damaging	Het
Arhgap42	T	A	9: 9,115,721 (GRCm39)	K118N	probably damaging	Het
Arl5b	A	G	2: 15,077,993 (GRCm39)	E106G	probably damaging	Het
Atp5mc3	C	T	2: 73,739,672 (GRCm39)	R56Q	probably benign	Het
Bbx	T	C	16: 50,020,928 (GRCm39)	R749G	probably benign	Het
Cacna1g	A	G	11: 94,350,376 (GRCm39)	S490P	probably damaging	Het
Ccdc63	A	T	5: 122,249,077 (GRCm39)	Y417*	probably null	Het
Cep162	A	T	9: 87,093,737 (GRCm39)	N880K	probably benign	Het
Chd2	G	A	7: 73,125,127 (GRCm39)	Q77*	probably null	Het
Cntrl	T	G	2: 35,060,658 (GRCm39)	M1397R	possibly damaging	Het
Dcaf7	A	G	11: 105,945,581 (GRCm39)	Y310C	probably damaging	Het
Dnah5	T	A	15: 28,449,302 (GRCm39)	S4235T	possibly damaging	Het
Dot1l	C	T	10: 80,625,224 (GRCm39)	P1157L	probably damaging	Het
Esco2	T	C	14: 66,057,465 (GRCm39)	T577A	probably benign	Het
Foxp1	T	C	6: 98,907,106 (GRCm39)	D624G	probably damaging	Het
Gfi1	A	T	5: 107,873,819 (GRCm39)		probably null	Het
Gm10985	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	3: 53,752,626 (GRCm39)		probably null	Het
Gm5113	G	A	7: 29,878,178 (GRCm39)	V89I	probably benign	Het
Gtf3c2	A	C	5: 31,327,180 (GRCm39)	L382R	probably benign	Het
H3c2	T	C	13: 23,936,393 (GRCm39)	S11P	probably benign	Het
Hhip	T	C	8: 80,778,233 (GRCm39)	N99S	probably damaging	Het
Ifi206	A	G	1: 173,308,923 (GRCm39)	S358P	unknown	Het
Loxhd1	T	A	18: 77,518,873 (GRCm39)	V1893D	probably damaging	Het
Mical2	A	G	7: 111,945,968 (GRCm39)	R11G	probably damaging	Het
Mrc1	T	C	2: 14,266,148 (GRCm39)		probably null	Het
Npr1	T	C	3: 90,363,560 (GRCm39)	N821S	probably benign	Het
Or4g16	A	G	2: 111,137,090 (GRCm39)	D180G	probably damaging	Het
Or52a24	A	G	7: 103,381,549 (GRCm39)	T139A	possibly damaging	Het
Or5p63	T	C	7: 107,811,670 (GRCm39)	D22G	probably benign	Het
Or5p70	T	G	7: 107,994,744 (GRCm39)	M139R	probably damaging	Het
Pi4ka	T	A	16: 17,143,852 (GRCm39)	D739V	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Ptprd	T	C	4: 76,243,377 (GRCm39)		probably null	Het
Ralgapb	G	A	2: 158,278,486 (GRCm39)	G5R	probably damaging	Het
Ric8b	T	C	10: 84,783,391 (GRCm39)	V83A	probably damaging	Het
Sdc2	C	A	15: 33,028,281 (GRCm39)	T133K	probably damaging	Het
Slc12a7	T	A	13: 73,947,088 (GRCm39)	V592D	probably damaging	Het
Sorcs1	G	T	19: 50,164,560 (GRCm39)	Y990*	probably null	Het
Spata13	G	T	14: 60,928,912 (GRCm39)	G157W	probably damaging	Het
Tada1	A	G	1: 166,217,541 (GRCm39)	N226S	probably benign	Het
Tenm3	A	G	8: 49,099,291 (GRCm39)		probably null	Het
Tll1	A	G	8: 64,524,315 (GRCm39)	V457A	probably benign	Het
Tmem232	T	C	17: 65,807,119 (GRCm39)	K25E	possibly damaging	Het
Tnrc18	T	C	5: 142,773,063 (GRCm39)	S406G	unknown	Het
Ush2a	A	G	1: 188,089,031 (GRCm39)	M329V	probably benign	Het
Vmn2r107	T	C	17: 20,577,141 (GRCm39)	S380P	probably damaging	Het
Vmn2r73	A	G	7: 85,519,563 (GRCm39)	M465T	probably benign	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Zfp217	T	C	2: 169,958,178 (GRCm39)	D463G	probably damaging	Het
Zfp345	T	C	2: 150,315,274 (GRCm39)	S88G	probably damaging	Het
Zfp975	A	C	7: 42,311,454 (GRCm39)	N386K	probably benign	Het

Other mutations in Htr5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02160:Htr5b	APN	1	121,455,774 (GRCm39)	missense	possibly damaging	0.66
IGL02375:Htr5b	APN	1	121,455,564 (GRCm39)	missense	probably damaging	1.00
IGL02805:Htr5b	APN	1	121,455,617 (GRCm39)	missense	probably damaging	1.00
IGL02991:Htr5b	UTSW	1	121,455,756 (GRCm39)	missense	probably benign	0.12
R0387:Htr5b	UTSW	1	121,455,275 (GRCm39)	missense	probably damaging	1.00
R1650:Htr5b	UTSW	1	121,455,891 (GRCm39)	missense	probably benign
R1747:Htr5b	UTSW	1	121,455,647 (GRCm39)	missense	probably damaging	1.00
R2203:Htr5b	UTSW	1	121,455,693 (GRCm39)	missense	probably damaging	1.00
R5492:Htr5b	UTSW	1	121,455,387 (GRCm39)	missense	possibly damaging	0.89
R7007:Htr5b	UTSW	1	121,438,223 (GRCm39)	missense	probably damaging	1.00
R7249:Htr5b	UTSW	1	121,438,203 (GRCm39)	missense	probably damaging	1.00
R7317:Htr5b	UTSW	1	121,438,157 (GRCm39)	missense	probably damaging	1.00
R7749:Htr5b	UTSW	1	121,455,487 (GRCm39)	missense	probably damaging	0.97
R8186:Htr5b	UTSW	1	121,456,108 (GRCm39)	start gained	probably benign
R9079:Htr5b	UTSW	1	121,455,816 (GRCm39)	missense	probably benign	0.00
R9369:Htr5b	UTSW	1	121,455,482 (GRCm39)	missense	possibly damaging	0.89
R9659:Htr5b	UTSW	1	121,455,428 (GRCm39)	missense	possibly damaging	0.81
Z1177:Htr5b	UTSW	1	121,455,468 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTCGGGTGAAATGAGGATCAC -3'
(R):5'- AAGCACCTCCAGAGTCTGAG -3'

Sequencing Primer
(F):5'- AATGAGGATCACAGGTCCCCTTTC -3'
(R):5'- ACCTCCAGAGTCTGAGATGGTG -3'

Posted On

2018-08-29