Mutagenetix > Incidental Mutation

Incidental Mutation 'R0001:Or52h1'

32240

Institutional Source

Beutler Lab

Gene Symbol

Or52h1

Ensembl Gene

ENSMUSG00000042909

Gene Name

olfactory receptor family 52 subfamily H member 1

Synonyms

Olfr648, GA_x6K02T2PBJ9-6914780-6913830, MOR31-12

MMRRC Submission

038297-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.440) question?

Stock #

R0001 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

103828663-103829613 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 103828680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 312 (K312*)

Ref Sequence

ENSEMBL: ENSMUSP00000149047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052659] [ENSMUST00000216612]

AlphaFold

Q8VG19

Predicted Effect

probably null
Transcript: ENSMUST00000052659
AA Change: K312*

SMART Domains

Protein: ENSMUSP00000062529
Gene: ENSMUSG00000042909
AA Change: K312*

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	2e-111	PFAM
Pfam:7TM_GPCR_Srsx	37	309	7.7e-7	PFAM
Pfam:7tm_1	43	294	3.1e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000104877
AA Change: K312*

SMART Domains

Protein: ENSMUSP00000100471
Gene: ENSMUSG00000042909
AA Change: K312*

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	37	309	1.1e-8	PFAM
Pfam:7tm_1	43	294	3.6e-28	PFAM
Pfam:7tm_4	141	287	1.9e-29	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000216612
AA Change: K312*

Meta Mutation Damage Score

0.9712

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

99% (76/77)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	A	7: 12,288,534 (GRCm39)		probably benign	Het
A4galt	A	G	15: 83,112,490 (GRCm39)	F98L	probably benign	Het
Abca4	T	G	3: 121,874,660 (GRCm39)		probably benign	Het
Acacb	C	T	5: 114,342,894 (GRCm39)		probably benign	Het
Agbl1	A	T	7: 76,069,611 (GRCm39)	H367L	probably damaging	Het
Apoa4	C	A	9: 46,154,190 (GRCm39)	Q264K	probably benign	Het
Camsap2	A	T	1: 136,210,626 (GRCm39)		probably benign	Het
Cdan1	C	A	2: 120,554,232 (GRCm39)	R939L	probably benign	Het
Ceacam18	G	A	7: 43,286,300 (GRCm39)	V58I	possibly damaging	Het
Ciita	A	T	16: 10,332,297 (GRCm39)		probably benign	Het
Clk4	T	A	11: 51,159,592 (GRCm39)		probably benign	Het
Cntnap2	T	C	6: 46,507,105 (GRCm39)	D215G	probably benign	Het
Col11a2	T	C	17: 34,280,586 (GRCm39)	S1218P	probably benign	Het
Col20a1	T	C	2: 180,626,205 (GRCm39)		probably benign	Het
Ctsb	A	G	14: 63,373,071 (GRCm39)	E76G	probably benign	Het
Ctu2	T	C	8: 123,205,659 (GRCm39)	C161R	probably benign	Het
Dhx29	T	C	13: 113,101,090 (GRCm39)	L1211P	probably damaging	Het
Dhx9	G	T	1: 153,338,382 (GRCm39)	T759K	probably damaging	Het
Dmxl1	T	C	18: 50,021,964 (GRCm39)		probably benign	Het
Dpysl3	C	T	18: 43,491,440 (GRCm39)	E226K	possibly damaging	Het
Eif2d	A	T	1: 131,095,864 (GRCm39)	K453*	probably null	Het
Epha7	T	C	4: 28,961,279 (GRCm39)		probably benign	Het
Fat3	T	C	9: 16,289,169 (GRCm39)	D118G	probably damaging	Het
Fhip2a	T	A	19: 57,370,188 (GRCm39)	H477Q	probably benign	Het
Foxn4	T	A	5: 114,398,931 (GRCm39)	Q159L	probably damaging	Het
Frs2	G	T	10: 116,910,781 (GRCm39)	H194N	possibly damaging	Het
Fut8	A	T	12: 77,522,089 (GRCm39)	*576L	probably null	Het
Galns	T	C	8: 123,322,622 (GRCm39)		probably benign	Het
Gamt	G	A	10: 80,094,895 (GRCm39)		probably benign	Het
Gpn1	T	A	5: 31,652,961 (GRCm39)		probably benign	Het
Ipcef1	G	T	10: 6,850,600 (GRCm39)	H330Q	probably damaging	Het
Itga4	A	C	2: 79,156,931 (GRCm39)	Y1024S	probably damaging	Het
Jak2	A	G	19: 29,259,787 (GRCm39)	I229V	probably benign	Het
Katnal1	A	G	5: 148,858,085 (GRCm39)	S42P	probably damaging	Het
Kcnu1	A	T	8: 26,349,298 (GRCm39)	D142V	probably damaging	Het
Lig3	C	T	11: 82,681,417 (GRCm39)	R470W	probably damaging	Het
Mgat4c	A	G	10: 102,224,817 (GRCm39)	S344G	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mipol1	C	T	12: 57,507,625 (GRCm39)		probably benign	Het
Mki67	C	T	7: 135,300,901 (GRCm39)	V1378M	probably damaging	Het
Mki67	T	A	7: 135,302,748 (GRCm39)	D762V	probably damaging	Het
Mmp9	A	G	2: 164,790,303 (GRCm39)	T43A	probably benign	Het
Muc6	T	C	7: 141,227,841 (GRCm39)	T1316A	possibly damaging	Het
Naip5	A	G	13: 100,351,158 (GRCm39)		probably null	Het
Naip5	C	A	13: 100,359,622 (GRCm39)	S538I	probably benign	Het
Nek3	A	T	8: 22,648,628 (GRCm39)		probably benign	Het
Nlrp1b	A	G	11: 71,052,585 (GRCm39)	S948P	probably damaging	Het
Nyap2	A	T	1: 81,169,822 (GRCm39)	H193L	probably benign	Het
Or9s23	A	G	1: 92,501,183 (GRCm39)	K97E	possibly damaging	Het
Patl2	G	A	2: 121,956,191 (GRCm39)		probably benign	Het
Pcdhb11	A	T	18: 37,557,042 (GRCm39)	R791W	probably benign	Het
Pkd1l3	C	A	8: 110,355,265 (GRCm39)		probably benign	Het
Pkn2	A	T	3: 142,534,749 (GRCm39)	V73D	probably benign	Het
Pknox1	A	T	17: 31,818,610 (GRCm39)	H281L	probably damaging	Het
Polr3a	A	G	14: 24,502,257 (GRCm39)		probably benign	Het
Prss38	A	G	11: 59,264,006 (GRCm39)		probably benign	Het
Rad54l2	A	G	9: 106,585,416 (GRCm39)	F783S	probably damaging	Het
Rbm5	T	C	9: 107,619,623 (GRCm39)	R125G	probably damaging	Het
Rnpep	A	G	1: 135,200,223 (GRCm39)		probably benign	Het
Slc1a5	T	A	7: 16,527,562 (GRCm39)		probably null	Het
Slc22a4	G	A	11: 53,918,829 (GRCm39)		probably benign	Het
Spink12	T	C	18: 44,240,763 (GRCm39)	C50R	probably damaging	Het
Spmip5	G	A	19: 58,777,603 (GRCm39)	A61V	probably damaging	Het
Svep1	G	A	4: 58,066,460 (GRCm39)	T3208I	possibly damaging	Het
Tgm5	G	T	2: 120,908,127 (GRCm39)	D16E	probably damaging	Het
Tpp2	A	G	1: 44,010,886 (GRCm39)	N558D	probably benign	Het
Trappc9	A	T	15: 72,835,511 (GRCm39)	L507Q	probably damaging	Het
Trpm3	A	T	19: 22,692,695 (GRCm39)	Q262L	possibly damaging	Het
Ttn	A	G	2: 76,607,316 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,662,433 (GRCm39)		probably benign	Het
Ubr4	T	A	4: 139,179,099 (GRCm39)	L3316Q	probably damaging	Het
Uckl1	T	A	2: 181,216,448 (GRCm39)	Y136F	probably damaging	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps39	A	G	2: 120,148,534 (GRCm39)	V870A	probably benign	Het
Zdhhc25	A	G	15: 88,485,112 (GRCm39)	D149G	probably benign	Het
Zfp648	C	T	1: 154,081,032 (GRCm39)	T397M	probably damaging	Het
Zic2	C	A	14: 122,716,369 (GRCm39)	T435K	probably damaging	Het

Other mutations in Or52h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02121:Or52h1	APN	7	103,829,432 (GRCm39)	missense	probably damaging	1.00
IGL02488:Or52h1	APN	7	103,829,478 (GRCm39)	missense	possibly damaging	0.66
IGL02956:Or52h1	APN	7	103,829,334 (GRCm39)	missense	probably damaging	1.00
R0057:Or52h1	UTSW	7	103,829,536 (GRCm39)	missense	probably benign	0.13
R1054:Or52h1	UTSW	7	103,829,498 (GRCm39)	missense	probably benign	0.02
R1262:Or52h1	UTSW	7	103,828,623 (GRCm39)	splice site	probably null
R4589:Or52h1	UTSW	7	103,828,636 (GRCm39)	splice site	probably null
R4975:Or52h1	UTSW	7	103,828,736 (GRCm39)	missense	probably damaging	1.00
R5068:Or52h1	UTSW	7	103,829,448 (GRCm39)	missense	probably damaging	1.00
R5643:Or52h1	UTSW	7	103,829,091 (GRCm39)	missense	probably benign	0.00
R6195:Or52h1	UTSW	7	103,828,961 (GRCm39)	missense	possibly damaging	0.78
R6211:Or52h1	UTSW	7	103,828,954 (GRCm39)	nonsense	probably null
R6233:Or52h1	UTSW	7	103,828,961 (GRCm39)	missense	possibly damaging	0.78
R6259:Or52h1	UTSW	7	103,829,261 (GRCm39)	missense	possibly damaging	0.53
R7138:Or52h1	UTSW	7	103,829,504 (GRCm39)	missense	probably damaging	1.00
R7357:Or52h1	UTSW	7	103,828,978 (GRCm39)	missense	probably damaging	1.00
R7570:Or52h1	UTSW	7	103,828,955 (GRCm39)	missense	probably damaging	1.00
R8352:Or52h1	UTSW	7	103,829,103 (GRCm39)	missense	probably damaging	1.00
R8452:Or52h1	UTSW	7	103,829,103 (GRCm39)	missense	probably damaging	1.00
R8712:Or52h1	UTSW	7	103,829,025 (GRCm39)	missense	probably damaging	1.00
R8937:Or52h1	UTSW	7	103,828,949 (GRCm39)	missense	possibly damaging	0.88
X0018:Or52h1	UTSW	7	103,828,797 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTCCTGTCAGTGCCATTACACAAC -3'
(R):5'- CAGATGTGGTCCTCATTGCTGTCTC -3'

Sequencing Primer
(F):5'- GTCAGTGCCATTACACAACAAAGG -3'
(R):5'- GATGCACGCCAGAAAGC -3'

Posted On

2013-05-09