Mutagenetix > Incidental Mutation

Incidental Mutation 'R0318:Htr7'

25566

Institutional Source

Beutler Lab

Gene Symbol

Htr7

Ensembl Gene

ENSMUSG00000024798

Gene Name

5-hydroxytryptamine (serotonin) receptor 7

Synonyms

5-HT7

MMRRC Submission

038528-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0318 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35936134-36034907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35946886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 376 (G376D)

Ref Sequence

ENSEMBL: ENSMUSP00000126150 (fasta)

Gene Model

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

AlphaFold

P32304

Predicted Effect

probably damaging
Transcript: ENSMUST00000099505
AA Change: G376D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097105
Gene: ENSMUSG00000024798
AA Change: G376D

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 damaging
Transcript: ENSMUST00000164639
AA Change: G376D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126847
Gene: ENSMUSG00000024798
AA Change: G376D

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 damaging
Transcript: ENSMUST00000166074
AA Change: G376D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126150
Gene: ENSMUSG00000024798
AA Change: G376D

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

unknown
Transcript: ENSMUST00000170360
AA Change: A327T

SMART Domains

Protein: ENSMUSP00000131517
Gene: ENSMUSG00000024798
AA Change: A327T

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: 98.8%
3x: 97.7%
10x: 94.4%
20x: 86.5%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,892,370 (GRCm39)	L79Q	probably damaging	Het
Add1	T	C	5: 34,782,684 (GRCm39)	V130A	probably damaging	Het
Ankrd23	G	T	1: 36,573,153 (GRCm39)	T73K	probably benign	Het
Blk	A	G	14: 63,611,646 (GRCm39)	Y430H	probably damaging	Het
C3	C	T	17: 57,531,709 (GRCm39)	V272M	probably damaging	Het
Cerk	C	T	15: 86,035,766 (GRCm39)	A254T	possibly damaging	Het
Ces2a	G	A	8: 105,467,456 (GRCm39)	A494T	probably damaging	Het
Cfap46	T	C	7: 139,234,482 (GRCm39)	Y258C	probably damaging	Het
Chaf1a	C	T	17: 56,369,227 (GRCm39)	T486I	possibly damaging	Het
Colec12	A	G	18: 9,848,446 (GRCm39)	N208S	possibly damaging	Het
Coro7	T	A	16: 4,493,671 (GRCm39)	H63L	probably benign	Het
Cps1	T	A	1: 67,216,173 (GRCm39)	W833R	probably damaging	Het
Csmd3	A	T	15: 47,522,549 (GRCm39)	W2707R	probably damaging	Het
Dbn1	C	T	13: 55,622,729 (GRCm39)	E585K	probably damaging	Het
Ddx50	A	T	10: 62,478,616 (GRCm39)	I190K	probably damaging	Het
Dnmt3l	G	A	10: 77,890,889 (GRCm39)	V264M	probably damaging	Het
Dnpep	A	G	1: 75,293,270 (GRCm39)	V33A	probably damaging	Het
Fam163a	A	G	1: 155,955,715 (GRCm39)	C26R	probably damaging	Het
Fam83h	A	G	15: 75,875,478 (GRCm39)	S620P	probably benign	Het
Fcna	A	G	2: 25,515,071 (GRCm39)	S263P	probably benign	Het
Fnip2	A	T	3: 79,419,685 (GRCm39)	S165R	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,410 (GRCm39)	T244A	probably benign	Het
Gpr152	T	C	19: 4,193,541 (GRCm39)	S361P	possibly damaging	Het
Grm5	A	T	7: 87,252,175 (GRCm39)	I142L	probably damaging	Het
Gucy2g	A	G	19: 55,226,230 (GRCm39)	S229P	probably benign	Het
Irgc	T	C	7: 24,131,896 (GRCm39)	D307G	probably benign	Het
Irs1	A	T	1: 82,266,381 (GRCm39)	S612T	probably benign	Het
Maml2	C	T	9: 13,531,890 (GRCm39)	T368I	probably damaging	Het
Mapkapk2	A	G	1: 131,025,072 (GRCm39)	V64A	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Nptx1	C	T	11: 119,433,367 (GRCm39)	E411K	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5ak25	C	A	2: 85,268,581 (GRCm39)	R307M	possibly damaging	Het
Pcgf5	A	T	19: 36,389,590 (GRCm39)	K22N	possibly damaging	Het
Psmd9	C	A	5: 123,372,712 (GRCm39)	A65E	possibly damaging	Het
Sh3bp1	A	G	15: 78,795,907 (GRCm39)	T679A	probably damaging	Het
Sipa1l2	G	A	8: 126,174,436 (GRCm39)	P1281S	possibly damaging	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc25a24	A	G	3: 109,064,316 (GRCm39)	M222V	probably benign	Het
Smg9	T	C	7: 24,120,313 (GRCm39)	F429S	possibly damaging	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Sorl1	T	A	9: 41,993,250 (GRCm39)	Y258F	probably damaging	Het
Srp72	C	T	5: 77,132,047 (GRCm39)	T242I	probably benign	Het
Stc1	A	T	14: 69,275,867 (GRCm39)	Q220L	probably damaging	Het
Tas2r122	T	C	6: 132,688,795 (GRCm39)	T33A	possibly damaging	Het
Tbc1d10b	A	G	7: 126,798,206 (GRCm39)	L645P	probably damaging	Het
Thoc2l	T	C	5: 104,665,619 (GRCm39)	F47S	probably benign	Het
Timd4	T	A	11: 46,727,898 (GRCm39)	H272Q	probably benign	Het
Ttll5	T	G	12: 85,923,368 (GRCm39)		probably null	Het
Veph1	G	T	3: 65,964,680 (GRCm39)	S783Y	probably damaging	Het
Vmn1r230	T	C	17: 21,067,078 (GRCm39)	L89S	possibly damaging	Het
Xcr1	A	G	9: 123,685,219 (GRCm39)	V165A	possibly damaging	Het
Zfp286	T	C	11: 62,675,788 (GRCm39)	D58G	probably damaging	Het
Zfyve26	C	T	12: 79,323,055 (GRCm39)	R897H	probably damaging	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
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
R6273:Htr7	UTSW	19	36,018,969 (GRCm39)	intron	probably benign
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'- TGACCTTACAGCACAAACTCGCTTC -3'
(R):5'- TCCCTGAATGGCGTGGTGAAAC -3'

Sequencing Primer
(F):5'- ACAAACTCGCTTCTCTCAGG -3'
(R):5'- GAAGAGTGTGCGAACCTTTC -3'

Posted On

2013-04-16