Mutagenetix > Incidental Mutations

Incidental Mutation 'R6884:Htr7'

536872

Institutional Source

Beutler Lab

Gene Symbol

Htr7

Ensembl Gene

ENSMUSG00000024798

Gene Name

5-hydroxytryptamine (serotonin) receptor 7

Synonyms

5-HT7

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6884 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35958734-36057507 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 35964379 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000097105 (fasta)

Gene Model

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

Predicted Effect

probably null
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 null
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 null
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

probably benign
Transcript: ENSMUST00000164781

SMART Domains

Protein: ENSMUSP00000131912
Gene: ENSMUSG00000024798

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

probably benign
Transcript: ENSMUST00000165215

SMART Domains

Protein: ENSMUSP00000128386
Gene: ENSMUSG00000024798

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,284,248		probably benign	Het
Abca5	C	T	11: 110,329,217	V8M	probably damaging	Het
Ahnak2	A	T	12: 112,775,429	D736E	possibly damaging	Het
AI481877	A	G	4: 59,059,652	S1003P	possibly damaging	Het
Brpf3	A	G	17: 28,831,350	D1072G	probably benign	Het
Cacna1i	C	T	15: 80,374,809	R1240C	probably damaging	Het
Ccdc40	A	T	11: 119,242,739	E568D	possibly damaging	Het
Col12a1	C	T	9: 79,639,809	G2247E	possibly damaging	Het
Dapk3	T	A	10: 81,191,754		probably null	Het
Dcaf13	T	C	15: 39,123,240	W136R	probably damaging	Het
Dip2a	C	A	10: 76,272,532		probably null	Het
Eif3c	T	C	7: 126,556,879	D473G	probably benign	Het
Erich2	G	A	2: 70,509,161	R20H	possibly damaging	Het
Gcnt7	T	C	2: 172,454,205	N233S	probably damaging	Het
Gdpd4	G	T	7: 97,972,175	L208F	probably damaging	Het
Gm10269	T	A	18: 20,682,875	Q30L	possibly damaging	Het
Gm7298	A	T	6: 121,760,521	I295F	possibly damaging	Het
Ing1	A	G	8: 11,561,916	Y118C	probably damaging	Het
Krtap16-1	C	T	11: 99,986,458	W40*	probably null	Het
Krtap26-1	A	T	16: 88,647,579	D51E	probably damaging	Het
Lama5	G	A	2: 180,191,662	P1519L	probably damaging	Het
Lrp1	T	A	10: 127,559,117	Q2513L	probably benign	Het
Morf4l1	A	T	9: 90,094,479	N265K	probably damaging	Het
Mpp2	T	C	11: 102,062,078	D299G	probably benign	Het
Mtcl1	C	T	17: 66,438,202	G55R	probably damaging	Het
Myb	T	A	10: 21,152,532	K144I	probably damaging	Het
Myo18a	T	C	11: 77,819,049	I587T	possibly damaging	Het
Nr2c2	A	G	6: 92,158,393	S288G	probably benign	Het
Obscn	A	G	11: 59,078,302	Y2700H	probably damaging	Het
Olfr373	T	C	8: 72,100,501	V247A	probably benign	Het
Olfr788	T	A	10: 129,473,154	F154Y	probably damaging	Het
Pde6b	A	G	5: 108,388,708	D90G	probably damaging	Het
Pigo	A	G	4: 43,022,627	F315L	possibly damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,709,061		probably benign	Het
Ret	T	C	6: 118,155,401	D1026G	probably damaging	Het
Rptn	A	T	3: 93,395,789	Q143L	probably benign	Het
Rubcnl	A	G	14: 75,035,470	E210G	probably benign	Het
Serpina1b	T	A	12: 103,732,453	T46S	probably benign	Het
Serpinb9e	A	T	13: 33,251,626	H14L	probably benign	Het
Slc25a25	A	C	2: 32,420,662	V168G	probably benign	Het
Slc35e1	T	C	8: 72,484,882	T261A	possibly damaging	Het
Spocd1	T	C	4: 129,955,404		probably benign	Het
Tmem222	A	T	4: 133,268,203	Y178N	probably damaging	Het
Top1mt	C	T	15: 75,664,044	E470K	probably benign	Het
Traj42	T	C	14: 54,175,833		probably benign	Het
Tshr	T	C	12: 91,538,102	Y13H	probably damaging	Het
Uvssa	A	G	5: 33,409,117		probably null	Het
Vmn1r28	G	A	6: 58,265,648	V159I	probably benign	Het
Vmn2r73	T	A	7: 85,858,005	T700S	probably benign	Het

Other mutations in Htr7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02683:Htr7	APN	19	35960362	missense	probably benign	0.00
R0009:Htr7	UTSW	19	36041540	intron	probably benign
R0318:Htr7	UTSW	19	35969486	missense	probably damaging	1.00
R1695:Htr7	UTSW	19	35969736	missense	probably benign	0.01
R2316:Htr7	UTSW	19	35969303	critical splice donor site	probably null
R3973:Htr7	UTSW	19	36056760	missense	probably damaging	1.00
R5041:Htr7	UTSW	19	36057067	missense	probably benign	0.10
R5203:Htr7	UTSW	19	35964392	missense	probably benign	0.00
R5236:Htr7	UTSW	19	36056769	missense	probably damaging	1.00
R5538:Htr7	UTSW	19	35969835	missense	probably benign	0.34
R5682:Htr7	UTSW	19	35969871	missense	probably damaging	1.00
R5683:Htr7	UTSW	19	35969871	missense	probably damaging	1.00
R5684:Htr7	UTSW	19	35969871	missense	probably damaging	1.00
R5686:Htr7	UTSW	19	35969871	missense	probably damaging	1.00
R5694:Htr7	UTSW	19	36057121	missense	probably benign	0.00
R6273:Htr7	UTSW	19	36041569	intron	probably benign
R6502:Htr7	UTSW	19	35969610	missense	probably damaging	1.00
R6558:Htr7	UTSW	19	36057240	missense	probably damaging	1.00
R7074:Htr7	UTSW	19	36056883	missense	probably damaging	0.99
R7592:Htr7	UTSW	19	36056892	missense	probably damaging	1.00
X0064:Htr7	UTSW	19	36056755	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- TGCTTCAAAACAATCCCATGG -3'
(R):5'- CTTTTCTGTGTGAGCAATCTAGAC -3'

Sequencing Primer
(F):5'- GAACAAGTTCTCATGGCATGATAG -3'
(R):5'- TCTGTGTGAGCAATCTAGACTATATG -3'

Posted On

2018-10-18