Mutagenetix > Incidental Mutation

Incidental Mutation 'R4090:Htr1f'

317582

Institutional Source

Beutler Lab

Gene Symbol

Htr1f

Ensembl Gene

ENSMUSG00000050783

Gene Name

5-hydroxytryptamine (serotonin) receptor 1F

Synonyms

Htr1eb

MMRRC Submission

040983-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4090 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64745092-64926147 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 64746324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 323 (K323E)

Ref Sequence

ENSEMBL: ENSMUSP00000063136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063076]

AlphaFold

Q02284

Predicted Effect

probably benign
Transcript: ENSMUST00000063076
AA Change: K323E

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000063136
Gene: ENSMUSG00000050783
AA Change: K323E

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srx	32	230	4.8e-7	PFAM
Pfam:7TM_GPCR_Srsx	34	362	2.4e-10	PFAM
Pfam:7tm_1	40	347	4.1e-74	PFAM
Pfam:7TM_GPCR_Srv	54	249	5.2e-7	PFAM

Meta Mutation Damage Score

0.0989

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (53/55)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display decreased temperature sensitivity and physiological abnormalities in nerve fibers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	G	10: 106,889,313 (GRCm39)	Y169S	probably damaging	Het
Apc2	A	G	10: 80,141,378 (GRCm39)	K268E	probably damaging	Het
Arhgef2	G	C	3: 88,551,185 (GRCm39)	R765P	probably benign	Het
Bptf	T	C	11: 106,972,349 (GRCm39)	K840E	probably damaging	Het
Carf	A	G	1: 60,175,506 (GRCm39)	R245G	possibly damaging	Het
Cd36	A	G	5: 17,990,718 (GRCm39)		probably null	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Cldn34c4	A	T	X: 126,629,011 (GRCm39)	V153E	probably damaging	Het
Col4a4	T	A	1: 82,501,643 (GRCm39)	Y370F	unknown	Het
Cplane1	T	A	15: 8,241,842 (GRCm39)		probably null	Het
Ddx4	A	G	13: 112,750,295 (GRCm39)	V386A	probably benign	Het
Exoc6	A	G	19: 37,560,360 (GRCm39)	T126A	probably benign	Het
Fam83f	A	T	15: 80,576,393 (GRCm39)	N348I	possibly damaging	Het
Gja8	A	G	3: 96,826,468 (GRCm39)	V398A	probably benign	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm12789	A	T	4: 101,845,526 (GRCm39)	T72S	possibly damaging	Het
Gm1988	A	G	7: 38,820,292 (GRCm39)		noncoding transcript	Het
Gm21370	A	G	13: 120,488,489 (GRCm39)	V20A	probably benign	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Hsd17b13	T	A	5: 104,113,720 (GRCm39)	S245C	probably benign	Het
Igkc	T	C	6: 70,703,442 (GRCm39)		probably benign	Het
Ksr1	T	C	11: 78,918,303 (GRCm39)	E535G	probably damaging	Het
Mlxipl	A	T	5: 135,161,381 (GRCm39)	E433D	probably benign	Het
Npc1	T	C	18: 12,331,219 (GRCm39)		probably null	Het
Or10ak7	C	T	4: 118,791,230 (GRCm39)	E272K	probably benign	Het
Or1e29	A	G	11: 73,667,667 (GRCm39)	L162P	probably damaging	Het
Or6y1	A	G	1: 174,276,500 (GRCm39)	T104A	probably benign	Het
Or7g17	T	C	9: 18,768,398 (GRCm39)	I159T	probably benign	Het
Pcdha3	A	G	18: 37,081,504 (GRCm39)	R749G	probably benign	Het
Ppme1	A	T	7: 99,997,044 (GRCm39)	N122K	possibly damaging	Het
Rasal1	G	A	5: 120,813,674 (GRCm39)	V657M	possibly damaging	Het
Rbm47	A	G	5: 66,180,080 (GRCm39)	M409T	probably benign	Het
Rragd	C	T	4: 33,007,155 (GRCm39)	T161M	probably damaging	Het
Slurp1	T	C	15: 74,598,724 (GRCm39)	H89R	possibly damaging	Het
Snap23	A	G	2: 120,416,061 (GRCm39)	I42V	probably benign	Het
Sypl2	A	G	3: 108,124,992 (GRCm39)	I123T	possibly damaging	Het
Taar8a	T	A	10: 23,953,062 (GRCm39)	V222E	probably damaging	Het
Tmem171	A	T	13: 98,829,096 (GRCm39)	V18D	probably damaging	Het
Topors	T	C	4: 40,260,794 (GRCm39)	D830G	unknown	Het
Traf3ip3	A	G	1: 192,863,628 (GRCm39)	V414A	probably damaging	Het
Tubg1	T	A	11: 101,015,364 (GRCm39)	M270K	possibly damaging	Het
Vmn1r188	T	C	13: 22,272,772 (GRCm39)	V242A	probably benign	Het
Vmn1r19	T	A	6: 57,381,720 (GRCm39)	I91N	probably damaging	Het
Vmn2r12	T	A	5: 109,239,412 (GRCm39)	M384L	probably benign	Het
Wdr26	T	C	1: 181,030,679 (GRCm39)	E205G	probably damaging	Het
Zfp281	T	A	1: 136,553,859 (GRCm39)	I279N	probably damaging	Het
Zfp398	T	A	6: 47,843,159 (GRCm39)	C272S	probably damaging	Het
Zfp975	A	G	7: 42,312,298 (GRCm39)	V105A	probably benign	Het

Other mutations in Htr1f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00896:Htr1f	APN	16	64,746,469 (GRCm39)	missense	probably benign	0.00
IGL01134:Htr1f	APN	16	64,746,501 (GRCm39)	missense	probably benign	0.00
IGL01455:Htr1f	APN	16	64,746,385 (GRCm39)	missense	probably damaging	1.00
IGL01580:Htr1f	APN	16	64,746,198 (GRCm39)	nonsense	probably null
IGL01865:Htr1f	APN	16	64,746,282 (GRCm39)	missense	probably damaging	1.00
IGL02027:Htr1f	APN	16	64,746,684 (GRCm39)	nonsense	probably null
IGL02234:Htr1f	APN	16	64,746,430 (GRCm39)	missense	probably damaging	1.00
IGL02567:Htr1f	APN	16	64,746,611 (GRCm39)	missense	probably benign	0.45
R0035:Htr1f	UTSW	16	64,746,860 (GRCm39)	missense	probably damaging	1.00
R0131:Htr1f	UTSW	16	64,747,091 (GRCm39)	missense	probably damaging	1.00
R0131:Htr1f	UTSW	16	64,747,091 (GRCm39)	missense	probably damaging	1.00
R0132:Htr1f	UTSW	16	64,747,091 (GRCm39)	missense	probably damaging	1.00
R0193:Htr1f	UTSW	16	64,747,112 (GRCm39)	missense	probably damaging	1.00
R0523:Htr1f	UTSW	16	64,746,262 (GRCm39)	missense	probably damaging	1.00
R0722:Htr1f	UTSW	16	64,746,254 (GRCm39)	missense	probably damaging	0.99
R2055:Htr1f	UTSW	16	64,746,398 (GRCm39)	missense	probably damaging	1.00
R3418:Htr1f	UTSW	16	64,746,260 (GRCm39)	missense	probably damaging	1.00
R4320:Htr1f	UTSW	16	64,747,050 (GRCm39)	missense	possibly damaging	0.87
R5037:Htr1f	UTSW	16	64,746,291 (GRCm39)	missense	probably damaging	1.00
R6004:Htr1f	UTSW	16	64,746,239 (GRCm39)	missense	probably damaging	1.00
R7383:Htr1f	UTSW	16	64,747,206 (GRCm39)	missense	probably benign	0.00
R7462:Htr1f	UTSW	16	64,746,383 (GRCm39)	missense	probably damaging	0.99
R7864:Htr1f	UTSW	16	64,747,157 (GRCm39)	missense	probably damaging	1.00
R8677:Htr1f	UTSW	16	64,746,414 (GRCm39)	missense	possibly damaging	0.69
R8816:Htr1f	UTSW	16	64,746,537 (GRCm39)	missense	probably benign	0.05
R8836:Htr1f	UTSW	16	64,747,196 (GRCm39)	missense	probably benign
R9106:Htr1f	UTSW	16	64,746,637 (GRCm39)	missense	probably damaging	1.00
R9155:Htr1f	UTSW	16	64,746,788 (GRCm39)	missense	probably benign	0.00
R9182:Htr1f	UTSW	16	64,746,825 (GRCm39)	missense	probably benign	0.03
R9244:Htr1f	UTSW	16	64,746,857 (GRCm39)	missense	probably benign	0.31
R9430:Htr1f	UTSW	16	64,746,831 (GRCm39)	missense	probably damaging	1.00
Z1176:Htr1f	UTSW	16	64,747,237 (GRCm39)	missense	probably benign
Z1176:Htr1f	UTSW	16	64,746,440 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCCTCCGCACTTTAAAATTAG -3'
(R):5'- CAAGTCTTCTTGGAGAGCGG -3'

Sequencing Primer
(F):5'- GCCTCCGCACTTTAAAATTAGGTTTC -3'
(R):5'- GGACTTTGATAGAATTCACAGCACCG -3'

Posted On

2015-05-15