Mutagenetix > Incidental Mutation

Incidental Mutation 'R5686:Htr7'

443397

Institutional Source

Beutler Lab

Gene Symbol

Htr7

Ensembl Gene

ENSMUSG00000024798

Gene Name

5-hydroxytryptamine (serotonin) receptor 7

Synonyms

5-HT7

MMRRC Submission

043319-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5686 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35936134-36034907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35947271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 248 (A248S)

Ref Sequence

ENSEMBL: ENSMUSP00000131517 (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: A248S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097105
Gene: ENSMUSG00000024798
AA Change: A248S

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: A248S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126847
Gene: ENSMUSG00000024798
AA Change: A248S

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: A248S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126150
Gene: ENSMUSG00000024798
AA Change: A248S

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 damaging
Transcript: ENSMUST00000170360
AA Change: A248S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000131517
Gene: ENSMUSG00000024798
AA Change: A248S

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

0.0862

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (73/75)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,451,433 (GRCm39)	E839G	possibly damaging	Het
Adgrf3	T	A	5: 30,402,304 (GRCm39)	T575S	probably damaging	Het
Akap9	T	A	5: 4,021,926 (GRCm39)	C1158S	probably benign	Het
Arhgap39	A	G	15: 76,610,833 (GRCm39)	F926L	probably damaging	Het
BC035947	G	T	1: 78,474,567 (GRCm39)	T655K	probably benign	Het
Bcas1	T	C	2: 170,248,730 (GRCm39)	T64A	probably benign	Het
Bltp1	T	A	3: 36,971,809 (GRCm39)	F514Y	probably benign	Het
Brca2	A	G	5: 150,464,369 (GRCm39)	K1378E	probably benign	Het
Card6	A	T	15: 5,130,435 (GRCm39)	N320K	probably damaging	Het
Ccdc3	A	T	2: 5,142,871 (GRCm39)	I43F	probably damaging	Het
Cd200r1	T	C	16: 44,610,527 (GRCm39)	S212P	probably damaging	Het
Cdh8	T	C	8: 99,759,854 (GRCm39)	I632V	probably benign	Het
Col25a1	A	G	3: 130,357,803 (GRCm39)	E477G	probably damaging	Het
Cpne5	A	T	17: 29,402,991 (GRCm39)	C215S	possibly damaging	Het
Crim1	T	A	17: 78,681,512 (GRCm39)	S989T	possibly damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dync1h1	T	A	12: 110,582,838 (GRCm39)	N340K	probably benign	Het
Eif4e2	G	A	1: 87,153,960 (GRCm39)		probably null	Het
Ephb6	G	T	6: 41,596,638 (GRCm39)	R895L	possibly damaging	Het
Esrrg	T	A	1: 187,882,395 (GRCm39)	H217Q	probably benign	Het
Fgl1	T	A	8: 41,653,594 (GRCm39)	K100*	probably null	Het
Flt4	T	C	11: 49,521,430 (GRCm39)	V450A	probably benign	Het
G6pc2	A	T	2: 69,051,128 (GRCm39)	I74L	probably benign	Het
Gabrr1	T	C	4: 33,161,684 (GRCm39)	M336T	probably damaging	Het
Gli1	T	A	10: 127,173,305 (GRCm39)	T118S	probably benign	Het
Gm5435	A	T	12: 82,542,800 (GRCm39)		noncoding transcript	Het
Got1l1	A	G	8: 27,688,087 (GRCm39)	L314P	probably damaging	Het
Hk3	T	A	13: 55,154,626 (GRCm39)	I740F	probably damaging	Het
Igsf9b	A	G	9: 27,235,475 (GRCm39)	T508A	probably damaging	Het
Il16	T	A	7: 83,297,936 (GRCm39)	N431I	probably benign	Het
Lax1	G	A	1: 133,607,914 (GRCm39)	P276S	probably damaging	Het
Lrp2	A	T	2: 69,341,405 (GRCm39)	V925E	possibly damaging	Het
Lrp3	T	A	7: 34,902,910 (GRCm39)	T479S	possibly damaging	Het
Metrn	G	A	17: 26,014,191 (GRCm39)	R212C	probably damaging	Het
Mlip	A	C	9: 77,254,975 (GRCm39)		probably null	Het
Mmp24	C	T	2: 155,641,697 (GRCm39)	T175I	probably damaging	Het
N6amt1	A	T	16: 87,151,223 (GRCm39)	D28V	probably damaging	Het
Or1e21	A	T	11: 73,344,677 (GRCm39)	Y120*	probably null	Het
Or4f4b	G	A	2: 111,314,488 (GRCm39)	G238R	probably damaging	Het
Or5p52	A	G	7: 107,502,119 (GRCm39)	H65R	probably damaging	Het
Or5p66	G	T	7: 107,885,949 (GRCm39)	A128E	probably damaging	Het
Or6d15	T	C	6: 116,559,890 (GRCm39)	T6A	probably benign	Het
Or8b12i	T	A	9: 20,082,265 (GRCm39)	I201F	possibly damaging	Het
Pcdh17	T	A	14: 84,770,433 (GRCm39)	N970K	probably damaging	Het
Pdzrn3	T	C	6: 101,128,389 (GRCm39)	Y759C	probably damaging	Het
Pkd2l2	T	C	18: 34,558,290 (GRCm39)	L323P	probably damaging	Het
Psg21	G	T	7: 18,386,183 (GRCm39)		probably benign	Het
Rest	T	C	5: 77,429,573 (GRCm39)	V664A	probably benign	Het
Sco2	G	A	15: 89,256,175 (GRCm39)	R160*	probably null	Het
Sfswap	T	A	5: 129,591,882 (GRCm39)	S300T	probably damaging	Het
Slc5a10	A	T	11: 61,569,392 (GRCm39)	M329K	probably benign	Het
Slco1a5	G	A	6: 142,182,033 (GRCm39)	P564S	probably damaging	Het
Stk38	A	G	17: 29,201,103 (GRCm39)	F191S	probably damaging	Het
Svep1	T	A	4: 58,072,826 (GRCm39)	Y2161F	possibly damaging	Het
Tada2a	G	A	11: 83,970,428 (GRCm39)	T441M	possibly damaging	Het
Tg	T	A	15: 66,560,738 (GRCm39)	N1033K	probably benign	Het
Thoc3	A	T	13: 54,615,686 (GRCm39)	I126N	probably damaging	Het
Tnc	T	C	4: 63,925,967 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,927,032 (GRCm39)	D831E	possibly damaging	Het
Uhmk1	A	T	1: 170,038,787 (GRCm39)	V100E	probably damaging	Het
Usp43	G	A	11: 67,812,742 (GRCm39)		probably benign	Het
Vmn2r90	A	T	17: 17,933,712 (GRCm39)	Y424F	probably benign	Het
Vps33a	C	T	5: 123,685,064 (GRCm39)		probably null	Het
Xirp2	A	T	2: 67,312,642 (GRCm39)	K37I	probably damaging	Het
Zfp106	A	T	2: 120,363,988 (GRCm39)		probably null	Het
Zfp748	A	T	13: 67,690,647 (GRCm39)	C204*	probably null	Het
Zfp998	T	C	13: 66,579,722 (GRCm39)	R254G	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
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'- CGTGTTTGAGCAGTCTCGAAAG -3'
(R):5'- GCTAGGTACCTTGGGATCAC -3'

Sequencing Primer
(F):5'- GAAAGGTTCGCACACTCTTC -3'
(R):5'- GGATCACCAGGCCCCTCAC -3'

Posted On

2016-11-09