Mutagenetix > Incidental Mutation

Incidental Mutation 'R7011:Htr1d'

545007

Institutional Source

Beutler Lab

Gene Symbol

Htr1d

Ensembl Gene

ENSMUSG00000070687

Gene Name

5-hydroxytryptamine (serotonin) receptor 1D

Synonyms

Htr1db, Gpcr14

MMRRC Submission

045112-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7011 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136150835-136171709 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136170317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 182 (M182T)

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: M182T

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000086052
Gene: ENSMUSG00000070687
AA Change: M182T

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: M182T

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112840
Gene: ENSMUSG00000070687
AA Change: M182T

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: M182T

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112402
Gene: ENSMUSG00000070687
AA Change: M182T

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

Meta Mutation Damage Score

0.0629

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (66/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	C	T	11: 46,033,845 (GRCm39)	P886S	probably benign	Het
Anapc1	C	T	2: 128,490,601 (GRCm39)		probably null	Het
Ankrd34c	C	A	9: 89,611,001 (GRCm39)	G447*	probably null	Het
Apbb1ip	A	T	2: 22,725,943 (GRCm39)	E238D	probably damaging	Het
Arfgap1	T	C	2: 180,613,935 (GRCm39)	L110P	probably damaging	Het
Arhgap21	G	A	2: 20,853,689 (GRCm39)	T1901I	possibly damaging	Het
Brpf1	C	A	6: 113,295,427 (GRCm39)	Q679K	probably benign	Het
Btnl2	A	G	17: 34,582,487 (GRCm39)	E351G	probably damaging	Het
Cd209f	T	A	8: 4,154,859 (GRCm39)	T80S	probably benign	Het
Cdc16	A	G	8: 13,819,451 (GRCm39)	E349G	probably damaging	Het
Cfap53	A	T	18: 74,462,564 (GRCm39)	D436V	probably benign	Het
Crhr2	A	T	6: 55,076,195 (GRCm39)		probably null	Het
Cux1	T	C	5: 136,388,887 (GRCm39)	K226E	probably damaging	Het
Ddr2	A	T	1: 169,809,672 (GRCm39)	D768E	probably damaging	Het
Dhx8	T	C	11: 101,632,346 (GRCm39)	L435P	probably damaging	Het
Dnah11	AGGCC	AGGCCGGCC	12: 117,885,753 (GRCm39)		probably null	Het
Eif4ebp1	G	A	8: 27,763,372 (GRCm39)	R55Q	probably damaging	Het
Fbh1	T	A	2: 11,767,774 (GRCm39)	D358V	probably damaging	Het
Fra10ac1	T	A	19: 38,177,242 (GRCm39)	E304D	probably benign	Het
Gabrb2	T	C	11: 42,517,488 (GRCm39)	S399P	possibly damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gprin2	G	T	14: 33,917,393 (GRCm39)	H126N	probably null	Het
Gucy1a1	A	G	3: 82,016,422 (GRCm39)	S189P	probably damaging	Het
Lipc	A	G	9: 70,726,236 (GRCm39)	F73L	probably benign	Het
Liph	A	G	16: 21,802,847 (GRCm39)	I74T	probably damaging	Het
Lrif1	T	G	3: 106,639,601 (GRCm39)	Y229D	probably damaging	Het
Magel2	C	T	7: 62,028,281 (GRCm39)	T395I	possibly damaging	Het
Magi3	T	C	3: 104,013,070 (GRCm39)	N139S	probably damaging	Het
Man2c1	T	A	9: 57,045,117 (GRCm39)	V336E	probably damaging	Het
Mapk12	A	T	15: 89,019,803 (GRCm39)	Y135N	probably damaging	Het
Mapkapk3	C	T	9: 107,166,595 (GRCm39)		probably benign	Het
Mast1	A	T	8: 85,638,574 (GRCm39)	Y653*	probably null	Het
Muc16	T	A	9: 18,548,747 (GRCm39)	I5849F	probably benign	Het
Muc16	T	A	9: 18,548,839 (GRCm39)	H5818L	probably benign	Het
Ndufa10	A	G	1: 92,398,581 (GRCm39)	S68P	probably damaging	Het
Nedd1	C	A	10: 92,526,635 (GRCm39)	L503F	probably benign	Het
Nr1i3	A	G	1: 171,041,927 (GRCm39)	M4V	probably benign	Het
Or12e9	G	A	2: 87,202,604 (GRCm39)	A243T	possibly damaging	Het
Or2av9	T	A	11: 58,380,970 (GRCm39)	I204F	possibly damaging	Het
Or4f14b	A	T	2: 111,775,031 (GRCm39)	F257I	probably benign	Het
Or9i2	T	C	19: 13,816,403 (GRCm39)	I45V	probably benign	Het
Pcdh18	A	T	3: 49,709,231 (GRCm39)	S695T	probably benign	Het
Pcdha1	T	C	18: 37,063,588 (GRCm39)	I84T	probably damaging	Het
Plek	T	A	11: 16,944,760 (GRCm39)	D90V	possibly damaging	Het
Ppp6r1	A	G	7: 4,649,825 (GRCm39)	C47R	probably damaging	Het
Psg27	G	C	7: 18,290,798 (GRCm39)	N468K	probably benign	Het
Ptchd4	G	A	17: 42,814,759 (GRCm39)	E887K	probably benign	Het
Rabgap1	C	T	2: 37,430,492 (GRCm39)	L678F	probably damaging	Het
Rmdn3	T	C	2: 118,968,904 (GRCm39)	Y429C	probably damaging	Het
Ros1	A	T	10: 52,056,272 (GRCm39)	C73S	probably damaging	Het
Rtkn2	G	A	10: 67,815,495 (GRCm39)		probably benign	Het
Slc25a42	A	G	8: 70,639,352 (GRCm39)	S242P	probably damaging	Het
Smtnl1	T	A	2: 84,648,753 (GRCm39)	D167V	probably benign	Het
Smurf2	A	G	11: 106,724,610 (GRCm39)	L511P	probably benign	Het
Stbd1	A	T	5: 92,752,977 (GRCm39)	K156*	probably null	Het
Tenm4	G	T	7: 96,545,342 (GRCm39)	G2453*	probably null	Het
Tent4a	C	T	13: 69,648,199 (GRCm39)	G489S	probably damaging	Het
Tpr	A	G	1: 150,309,523 (GRCm39)	K1760E	probably damaging	Het
Triobp	T	A	15: 78,862,923 (GRCm39)	L1427Q	probably damaging	Het
Uaca	A	G	9: 60,777,650 (GRCm39)	E679G	probably damaging	Het
Ucn3	T	G	13: 3,991,421 (GRCm39)	H77P	possibly damaging	Het
Wnk2	T	A	13: 49,224,567 (GRCm39)	D998V	probably damaging	Het
Xrcc3	A	G	12: 111,770,969 (GRCm39)	V320A	probably damaging	Het
Zdbf2	A	G	1: 63,345,925 (GRCm39)	T1435A	possibly damaging	Het
Zfp36l2	G	T	17: 84,493,861 (GRCm39)	H259N	possibly damaging	Het
Zfp619	A	T	7: 39,187,186 (GRCm39)	H1072L	probably damaging	Het
Zfy2	T	A	Y: 2,107,127 (GRCm39)	E502D	possibly damaging	Het
Zfyve16	G	A	13: 92,658,495 (GRCm39)	P472L	probably benign	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
R3894:Htr1d	UTSW	4	136,170,548 (GRCm39)	missense	probably benign	0.00
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
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

PCR Primer
(F):5'- CTTCTGACATCACGTGCTGC -3'
(R):5'- AGCAGAGCCTGTGATAAGC -3'

Sequencing Primer
(F):5'- GCACGGCCTCCATCTTG -3'
(R):5'- CAGAGCCTGTGATAAGCTGTGC -3'

Posted On

2019-05-13