Mutagenetix > Incidental Mutations

Incidental Mutation 'R3894:Htr1d'

310439

Institutional Source

Beutler Lab

Gene Symbol

Htr1d

Ensembl Gene

ENSMUSG00000070687

Gene Name

5-hydroxytryptamine (serotonin) receptor 1D

Synonyms

Gpcr14, Htr1db

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3894 (G1)

Quality Score

199

Status

Not validated

Chromosome

Chromosomal Location

136423524-136444398 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136443237 bp

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]

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: 44,853,939	D180G	probably damaging	Het
Aldh1a7	A	T	19: 20,696,398	Y457*	probably null	Het
Alpk3	C	T	7: 81,078,390	P423S	possibly damaging	Het
Aox2	A	T	1: 58,334,678		probably null	Het
Crebbp	T	C	16: 4,096,102	T1316A	probably benign	Het
Cul3	C	A	1: 80,283,690	V273F	probably damaging	Het
Dnah1	G	T	14: 31,307,028	R582S	probably benign	Het
Fbxl2	T	C	9: 114,003,193	N51S	probably damaging	Het
Gapvd1	T	C	2: 34,728,476	D295G	probably benign	Het
Gdf7	A	G	12: 8,298,845	S151P	unknown	Het
Gm10277	T	C	11: 77,786,001		probably benign	Het
Hdac4	T	C	1: 91,970,968	E688G	possibly damaging	Het
Ifi204	T	C	1: 173,749,208	H609R	possibly damaging	Het
Ift80	T	C	3: 68,917,999	D541G	probably damaging	Het
Il18r1	A	T	1: 40,474,874	H80L	possibly damaging	Het
Lrp4	G	A	2: 91,473,949	G158S	probably damaging	Het
Mesd	T	A	7: 83,897,785	L152H	probably damaging	Het
Morf4l1	A	T	9: 90,094,448	F276I	possibly damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mut	G	A	17: 40,955,139	C531Y	probably damaging	Het
Myo15	A	G	11: 60,504,319	T2480A	probably benign	Het
Olfr1284	C	A	2: 111,379,637	F212L	probably benign	Het
Olfr1317	T	C	2: 112,142,014	I23T	probably benign	Het
Olfr1387	G	A	11: 49,459,939	G87R	possibly damaging	Het
Olfr180	A	G	16: 58,916,339	F101L	probably benign	Het
Olfr437	A	T	6: 43,167,258	I67F	probably benign	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Ovgp1	A	G	3: 105,986,596		probably benign	Het
Pcbp4	A	T	9: 106,461,371	Q59L	possibly damaging	Het
Prg4	G	C	1: 150,454,759		probably benign	Het
Rad50	T	A	11: 53,678,870	I905L	probably benign	Het
Rp1l1	T	C	14: 64,029,307	S781P	probably benign	Het
Rps3	C	T	7: 99,479,896	R173H	probably benign	Het
Rtn3	T	A	19: 7,435,085	T86S	probably damaging	Het
Sdha	A	T	13: 74,334,391	S268T	probably benign	Het
Sgo2b	A	T	8: 63,928,733	V355E	possibly damaging	Het
Sh3glb2	T	C	2: 30,355,288	T60A	probably damaging	Het
Slc26a3	A	C	12: 31,464,720	Y513S	probably damaging	Het
Slc35b2	T	C	17: 45,566,442	V165A	probably benign	Het
Slco3a1	A	G	7: 74,284,613	W604R	probably damaging	Het
Tet2	A	G	3: 133,469,477	S1370P	possibly damaging	Het
Tmtc4	A	T	14: 122,921,319		probably null	Het
Tsga13	A	G	6: 30,912,263	V18A	probably benign	Het
Ugt2a3	T	C	5: 87,329,590	T317A	probably benign	Het
Zcchc4	A	T	5: 52,784,100	D79V	probably damaging	Het

Other mutations in Htr1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01375:Htr1d	APN	4	136443173	missense	probably benign	0.03
IGL01818:Htr1d	APN	4	136442886	missense	probably benign	0.02
IGL01952:Htr1d	APN	4	136443561	missense	probably benign	0.08
IGL02696:Htr1d	APN	4	136443411	missense	probably benign	0.00
R0112:Htr1d	UTSW	4	136443000	missense	probably benign	0.05
R0147:Htr1d	UTSW	4	136443477	missense	probably damaging	1.00
R0148:Htr1d	UTSW	4	136443477	missense	probably damaging	1.00
R2483:Htr1d	UTSW	4	136443504	missense	probably damaging	0.97
R2764:Htr1d	UTSW	4	136443065	missense	possibly damaging	0.89
R3622:Htr1d	UTSW	4	136443504	missense	probably damaging	0.97
R3623:Htr1d	UTSW	4	136443504	missense	probably damaging	0.97
R3624:Htr1d	UTSW	4	136443504	missense	probably damaging	0.97
R4567:Htr1d	UTSW	4	136443525	missense	probably benign	0.17
R4735:Htr1d	UTSW	4	136442886	missense	probably benign	0.02
R6190:Htr1d	UTSW	4	136442798	missense	probably damaging	1.00
R7011:Htr1d	UTSW	4	136443006	missense	probably benign	0.10
R7123:Htr1d	UTSW	4	136442353	start gained	probably benign
R7223:Htr1d	UTSW	4	136443501	missense	probably damaging	1.00
R7328:Htr1d	UTSW	4	136443303	missense	probably benign	0.01
R8399:Htr1d	UTSW	4	136443375	missense	probably damaging	1.00
R8514:Htr1d	UTSW	4	136443339	missense	probably damaging	1.00

Predicted Primers

Posted On

2015-04-17