Mutagenetix > Incidental Mutation

Incidental Mutation 'R3894:Htr1d'

310439

Institutional Source

Beutler Lab

Gene Symbol

Htr1d

Ensembl Gene

ENSMUSG00000070687

Gene Name

5-hydroxytryptamine (serotonin) receptor 1D

Synonyms

Htr1db, Gpcr14

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3894 (G1)

Quality Score

199

Status

Not validated

Chromosome

Chromosomal Location

136150835-136171709 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136170548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 259 (E259G)

Ref Sequence

ENSEMBL: ENSMUSP00000112402 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088677] [ENSMUST00000117699] [ENSMUST00000121571]

AlphaFold

Q61224

Predicted Effect

probably benign
Transcript: ENSMUST00000088677
AA Change: E259G

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

SMART Domains

Protein: ENSMUSP00000086052
Gene: ENSMUSG00000070687
AA Change: E259G

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	46	368	1.2e-11	PFAM
Pfam:7tm_1	52	353	1.2e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117699
AA Change: E259G

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

SMART Domains

Protein: ENSMUSP00000112840
Gene: ENSMUSG00000070687
AA Change: E259G

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	46	368	1.2e-11	PFAM
Pfam:7tm_1	52	353	2.7e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121571
AA Change: E259G

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

SMART Domains

Protein: ENSMUSP00000112402
Gene: ENSMUSG00000070687
AA Change: E259G

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	46	368	1.2e-11	PFAM
Pfam:7tm_1	52	353	2.7e-86	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133818

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1s1	A	G	7: 44,503,363 (GRCm39)	D180G	probably damaging	Het
Aldh1a7	A	T	19: 20,673,762 (GRCm39)	Y457*	probably null	Het
Alpk3	C	T	7: 80,728,138 (GRCm39)	P423S	possibly damaging	Het
Aox1	A	T	1: 58,373,837 (GRCm39)		probably null	Het
Crebbp	T	C	16: 3,913,966 (GRCm39)	T1316A	probably benign	Het
Cul3	C	A	1: 80,261,407 (GRCm39)	V273F	probably damaging	Het
Dnah1	G	T	14: 31,028,985 (GRCm39)	R582S	probably benign	Het
Fbxl2	T	C	9: 113,832,261 (GRCm39)	N51S	probably damaging	Het
Gapvd1	T	C	2: 34,618,488 (GRCm39)	D295G	probably benign	Het
Gdf7	A	G	12: 8,348,845 (GRCm39)	S151P	unknown	Het
Gm10277	T	C	11: 77,676,827 (GRCm39)		probably benign	Het
Hdac4	T	C	1: 91,898,690 (GRCm39)	E688G	possibly damaging	Het
Ifi204	T	C	1: 173,576,774 (GRCm39)	H609R	possibly damaging	Het
Ift80	T	C	3: 68,825,332 (GRCm39)	D541G	probably damaging	Het
Il18r1	A	T	1: 40,514,034 (GRCm39)	H80L	possibly damaging	Het
Lrp4	G	A	2: 91,304,294 (GRCm39)	G158S	probably damaging	Het
Mesd	T	A	7: 83,546,993 (GRCm39)	L152H	probably damaging	Het
Mmut	G	A	17: 41,266,030 (GRCm39)	C531Y	probably damaging	Het
Morf4l1	A	T	9: 89,976,501 (GRCm39)	F276I	possibly damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myo15a	A	G	11: 60,395,145 (GRCm39)	T2480A	probably benign	Het
Or2a52	A	T	6: 43,144,192 (GRCm39)	I67F	probably benign	Het
Or2y15	G	A	11: 49,350,766 (GRCm39)	G87R	possibly damaging	Het
Or4f47	T	C	2: 111,972,359 (GRCm39)	I23T	probably benign	Het
Or4g17	C	A	2: 111,209,982 (GRCm39)	F212L	probably benign	Het
Or5k16	A	G	16: 58,736,702 (GRCm39)	F101L	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Ovgp1	A	G	3: 105,893,912 (GRCm39)		probably benign	Het
Pcbp4	A	T	9: 106,338,570 (GRCm39)	Q59L	possibly damaging	Het
Prg4	G	C	1: 150,330,510 (GRCm39)		probably benign	Het
Rad50	T	A	11: 53,569,697 (GRCm39)	I905L	probably benign	Het
Rp1l1	T	C	14: 64,266,756 (GRCm39)	S781P	probably benign	Het
Rps3	C	T	7: 99,129,103 (GRCm39)	R173H	probably benign	Het
Rtn3	T	A	19: 7,412,450 (GRCm39)	T86S	probably damaging	Het
Sdha	A	T	13: 74,482,510 (GRCm39)	S268T	probably benign	Het
Sgo2b	A	T	8: 64,381,767 (GRCm39)	V355E	possibly damaging	Het
Sh3glb2	T	C	2: 30,245,300 (GRCm39)	T60A	probably damaging	Het
Slc26a3	A	C	12: 31,514,719 (GRCm39)	Y513S	probably damaging	Het
Slc35b2	T	C	17: 45,877,368 (GRCm39)	V165A	probably benign	Het
Slco3a1	A	G	7: 73,934,361 (GRCm39)	W604R	probably damaging	Het
Tet2	A	G	3: 133,175,238 (GRCm39)	S1370P	possibly damaging	Het
Tmtc4	A	T	14: 123,158,731 (GRCm39)		probably null	Het
Tsga13	A	G	6: 30,889,198 (GRCm39)	V18A	probably benign	Het
Ugt2a3	T	C	5: 87,477,449 (GRCm39)	T317A	probably benign	Het
Zcchc4	A	T	5: 52,941,442 (GRCm39)	D79V	probably damaging	Het

Other mutations in Htr1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01375:Htr1d	APN	4	136,170,484 (GRCm39)	missense	probably benign	0.03
IGL01818:Htr1d	APN	4	136,170,197 (GRCm39)	missense	probably benign	0.02
IGL01952:Htr1d	APN	4	136,170,872 (GRCm39)	missense	probably benign	0.08
IGL02696:Htr1d	APN	4	136,170,722 (GRCm39)	missense	probably benign	0.00
R0112:Htr1d	UTSW	4	136,170,311 (GRCm39)	missense	probably benign	0.05
R0147:Htr1d	UTSW	4	136,170,788 (GRCm39)	missense	probably damaging	1.00
R0148:Htr1d	UTSW	4	136,170,788 (GRCm39)	missense	probably damaging	1.00
R2483:Htr1d	UTSW	4	136,170,815 (GRCm39)	missense	probably damaging	0.97
R2764:Htr1d	UTSW	4	136,170,376 (GRCm39)	missense	possibly damaging	0.89
R3622:Htr1d	UTSW	4	136,170,815 (GRCm39)	missense	probably damaging	0.97
R3623:Htr1d	UTSW	4	136,170,815 (GRCm39)	missense	probably damaging	0.97
R3624:Htr1d	UTSW	4	136,170,815 (GRCm39)	missense	probably damaging	0.97
R4567:Htr1d	UTSW	4	136,170,836 (GRCm39)	missense	probably benign	0.17
R4735:Htr1d	UTSW	4	136,170,197 (GRCm39)	missense	probably benign	0.02
R6190:Htr1d	UTSW	4	136,170,109 (GRCm39)	missense	probably damaging	1.00
R7011:Htr1d	UTSW	4	136,170,317 (GRCm39)	missense	probably benign	0.10
R7123:Htr1d	UTSW	4	136,169,664 (GRCm39)	start gained	probably benign
R7223:Htr1d	UTSW	4	136,170,812 (GRCm39)	missense	probably damaging	1.00
R7328:Htr1d	UTSW	4	136,170,614 (GRCm39)	missense	probably benign	0.01
R8399:Htr1d	UTSW	4	136,170,686 (GRCm39)	missense	probably damaging	1.00
R8514:Htr1d	UTSW	4	136,170,650 (GRCm39)	missense	probably damaging	1.00
R8829:Htr1d	UTSW	4	136,170,554 (GRCm39)	missense	probably benign
R8982:Htr1d	UTSW	4	136,170,866 (GRCm39)	missense	possibly damaging	0.89
R9497:Htr1d	UTSW	4	136,169,663 (GRCm39)	start gained	probably benign
R9505:Htr1d	UTSW	4	136,170,889 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2015-04-17