Mutagenetix > Incidental Mutation

Incidental Mutation 'R6273:Htr7'

529379

Institutional Source

Beutler Lab

Gene Symbol

Htr7

Ensembl Gene

ENSMUSG00000024798

Gene Name

5-hydroxytryptamine (serotonin) receptor 7

Synonyms

5-HT7

MMRRC Submission

044443-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6273 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35936134-36034907 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 36018969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099505] [ENSMUST00000164639] [ENSMUST00000164781] [ENSMUST00000165215] [ENSMUST00000166074] [ENSMUST00000170360]

AlphaFold

P32304

Predicted Effect

probably benign
Transcript: ENSMUST00000099505

SMART Domains

Protein: ENSMUSP00000097105
Gene: ENSMUSG00000024798

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	95	402	1.3e-9	PFAM
Pfam:7tm_1	101	387	1.7e-82	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000164781
AA Change: Y198N

SMART Domains

Protein: ENSMUSP00000131912
Gene: ENSMUSG00000024798
AA Change: Y198N

Domain	Start	End	E-Value	Type
low complexity region	90	99	N/A	INTRINSIC
Pfam:7tm_1	101	185	2.8e-28	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000165215
AA Change: Y198N

SMART Domains

Protein: ENSMUSP00000128386
Gene: ENSMUSG00000024798
AA Change: Y198N

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	95	247	9.6e-9	PFAM
Pfam:7tm_1	101	252	1.4e-49	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

98% (78/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 64,055,561 (GRCm39)	I99N	probably damaging	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Ankrd31	A	G	13: 96,988,181 (GRCm39)	I1065V	possibly damaging	Het
Aox1	A	G	1: 58,378,831 (GRCm39)	T1027A	probably benign	Het
Atm	G	A	9: 53,399,222 (GRCm39)	P1593L	probably benign	Het
Atp13a5	T	G	16: 29,167,555 (GRCm39)	I132L	probably benign	Het
BC035044	A	G	6: 128,867,852 (GRCm39)		probably benign	Het
Cadm3	CT	C	1: 173,176,691 (GRCm39)		probably benign	Homo
Car3	C	T	3: 14,936,677 (GRCm39)	P247S	probably benign	Het
Ccdc7a	T	C	8: 129,513,819 (GRCm39)	Y160C	probably damaging	Het
Cd1d1	A	G	3: 86,905,564 (GRCm39)	V143A	probably benign	Het
Cemip2	T	A	19: 21,779,369 (GRCm39)	V393E	probably damaging	Het
Cog6	A	T	3: 52,903,473 (GRCm39)	F142I	probably damaging	Het
Cracd	A	T	5: 77,005,568 (GRCm39)	D643V	unknown	Het
Crhr1	T	G	11: 104,054,682 (GRCm39)	N98K	possibly damaging	Het
Csf1	A	G	3: 107,656,479 (GRCm39)	V72A	probably damaging	Het
Cwc15	T	A	9: 14,421,537 (GRCm39)	I201K	probably benign	Het
Dgka	T	C	10: 128,559,515 (GRCm39)	K482R	probably benign	Het
Dnah7b	T	C	1: 46,281,476 (GRCm39)	S2846P	possibly damaging	Het
Dst	T	A	1: 34,314,347 (GRCm39)	I4199N	probably damaging	Het
Dusp7	A	G	9: 106,251,095 (GRCm39)	T407A	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fem1a	T	C	17: 56,564,083 (GRCm39)	Y59H	possibly damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Filip1	A	T	9: 79,723,168 (GRCm39)	D1150E	probably benign	Het
Gabra1	A	G	11: 42,031,138 (GRCm39)	V264A	probably damaging	Het
Gm4131	T	C	14: 62,702,299 (GRCm39)	E223G	probably damaging	Het
Gon4l	T	C	3: 88,763,156 (GRCm39)	V333A	probably damaging	Het
Gsk3b	A	G	16: 38,028,408 (GRCm39)	T289A	probably benign	Het
Hmcn2	T	C	2: 31,301,846 (GRCm39)	S2912P	probably damaging	Het
Ibsp	A	G	5: 104,458,167 (GRCm39)	T235A	probably benign	Het
Ints13	A	T	6: 146,467,179 (GRCm39)	D116E	probably damaging	Het
Irag1	G	T	7: 110,470,790 (GRCm39)	H848N	probably benign	Het
Kctd19	T	C	8: 106,112,117 (GRCm39)	N753S	probably benign	Het
Mdn1	A	G	4: 32,715,979 (GRCm39)	N2054D	probably benign	Het
Mink1	A	T	11: 70,502,261 (GRCm39)	K880*	probably null	Het
Myo15b	T	A	11: 115,753,625 (GRCm39)	L824Q	possibly damaging	Het
Napepld	T	C	5: 21,870,320 (GRCm39)	E366G	probably benign	Het
Obscn	T	A	11: 58,967,819 (GRCm39)	T2662S	possibly damaging	Het
Or2g7	T	G	17: 38,378,686 (GRCm39)	L208R	probably damaging	Het
Or2n1b	T	A	17: 38,459,833 (GRCm39)	M118K	possibly damaging	Het
Or4k52	T	C	2: 111,611,567 (GRCm39)	F301L	probably benign	Het
Or52p1	A	G	7: 104,267,102 (GRCm39)	D72G	probably damaging	Het
Or5b12	A	G	19: 12,896,764 (GRCm39)	V303A	probably benign	Het
Or6d13	A	G	6: 116,518,277 (GRCm39)	T288A	possibly damaging	Het
Pah	T	C	10: 87,412,077 (GRCm39)		probably null	Het
Panx3	T	G	9: 37,578,725 (GRCm39)	I85L	probably benign	Het
Pate4	T	C	9: 35,519,086 (GRCm39)	N94D	probably benign	Het
Pde4d	A	G	13: 110,086,755 (GRCm39)	M610V	possibly damaging	Het
Pik3c2b	T	C	1: 132,994,449 (GRCm39)	S138P	probably benign	Het
Pkn1	T	C	8: 84,398,899 (GRCm39)	N696S	probably damaging	Het
Plppr2	A	G	9: 21,855,801 (GRCm39)	E258G	probably damaging	Het
Plxnd1	A	T	6: 115,955,453 (GRCm39)	M538K	probably damaging	Het
Prepl	G	T	17: 85,390,696 (GRCm39)	N87K	probably benign	Het
Prkag2	C	A	5: 25,152,534 (GRCm39)	R190L	probably damaging	Het
Rara	A	G	11: 98,861,048 (GRCm39)	T179A	probably benign	Het
Rfx7	A	G	9: 72,524,279 (GRCm39)	K490E	possibly damaging	Het
Rgsl1	C	T	1: 153,703,211 (GRCm39)	V147M	possibly damaging	Het
Rph3a	A	G	5: 121,083,485 (GRCm39)	I595T	possibly damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Homo
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc8a2	T	C	7: 15,879,259 (GRCm39)	F582L	possibly damaging	Het
Sprr2e	A	G	3: 92,260,171 (GRCm39)	M1V	probably null	Het
Steap1	T	A	5: 5,790,827 (GRCm39)	R40S	possibly damaging	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Thsd7a	A	T	6: 12,408,835 (GRCm39)	V729E	probably damaging	Het
Tmprss13	A	G	9: 45,256,630 (GRCm39)	Y525C	probably damaging	Het
Tnik	A	T	3: 28,631,649 (GRCm39)	H383L	possibly damaging	Het
Vars1	T	C	17: 35,232,719 (GRCm39)	L881S	probably damaging	Het
Vmn1r201	A	C	13: 22,659,385 (GRCm39)	S200R	probably damaging	Het
Vmn2r130	A	T	17: 23,295,759 (GRCm39)	H643L	probably benign	Het
Vmn2r14	A	T	5: 109,369,133 (GRCm39)	W147R	probably benign	Het
Vps53	T	C	11: 75,992,844 (GRCm39)	E367G	probably benign	Het
Xab2	C	T	8: 3,661,822 (GRCm39)	G544S	probably damaging	Het
Ythdf3	T	A	3: 16,259,020 (GRCm39)	V400E	possibly damaging	Het
Zfand5	C	T	19: 21,257,060 (GRCm39)	P147S	probably benign	Het
Zfp768	A	T	7: 126,944,319 (GRCm39)		probably null	Het
Zswim8	A	G	14: 20,763,521 (GRCm39)	M423V	probably benign	Het

Other mutations in Htr7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AGCCTCACTGCTGTTTCCAG -3'
(R):5'- GGCCTTCCTGTAAGATACAAGACAC -3'

Sequencing Primer
(F):5'- ACTGCTGTTTCCAGATGCTAAG -3'
(R):5'- TTCCTGTAAGATACAAGACACTTACC -3'

Posted On

2018-08-01