Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03328:Or52h7'

416716

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or52h7

Ensembl Gene

ENSMUSG00000073927

Gene Name

olfactory receptor family 52 subfamily H member 7

Synonyms

MOR31-8, Olfr652, GA_x6K02T2PBJ9-7191524-7192471

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL03328

Quality Score

Status

Chromosome

Chromosomal Location

104213359-104214419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104213677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 83 (V83D)

Ref Sequence

ENSEMBL: ENSMUSP00000152027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098175] [ENSMUST00000215410] [ENSMUST00000216131] [ENSMUST00000219111]

AlphaFold

B9EHE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000098175
AA Change: V83D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095777
Gene: ENSMUSG00000073927
AA Change: V83D

Domain	Start	End	E-Value	Type
transmembrane domain	7	25	N/A	INTRINSIC
Pfam:7tm_4	36	315	2.6e-105	PFAM
Pfam:7TM_GPCR_Srsx	40	312	6.9e-9	PFAM
Pfam:7tm_1	46	297	4.7e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000215410
AA Change: V83D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216131
AA Change: V83D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219111
AA Change: V83D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	T	11: 84,211,355 (GRCm39)	M1556L	probably benign	Het
Aicda	T	G	6: 122,539,396 (GRCm39)	D187E	probably benign	Het
Arfgap3	A	C	15: 83,227,282 (GRCm39)	F43L	probably damaging	Het
AW551984	T	C	9: 39,508,412 (GRCm39)	E368G	probably damaging	Het
Bbs4	T	C	9: 59,251,401 (GRCm39)	E33G	probably damaging	Het
Bcas1	T	A	2: 170,208,316 (GRCm39)	K437*	probably null	Het
Brwd1	A	T	16: 95,803,925 (GRCm39)	W2082R	probably damaging	Het
Card6	A	T	15: 5,134,927 (GRCm39)		probably benign	Het
Cd200r4	A	G	16: 44,653,882 (GRCm39)	I226M	possibly damaging	Het
Cep57l1	T	C	10: 41,619,148 (GRCm39)	E73G	probably damaging	Het
Chaf1a	T	G	17: 56,370,374 (GRCm39)	F613C	probably damaging	Het
Clybl	G	T	14: 122,639,406 (GRCm39)	K323N	probably damaging	Het
Coa7	A	G	4: 108,195,479 (GRCm39)	D136G	probably damaging	Het
Col5a2	C	A	1: 45,415,306 (GRCm39)	V1478L	possibly damaging	Het
Ctnnd2	T	C	15: 30,921,993 (GRCm39)		probably benign	Het
Cyp4f17	T	G	17: 32,739,600 (GRCm39)	M174R	probably damaging	Het
Dnah10	A	T	5: 124,831,354 (GRCm39)	D794V	probably benign	Het
Eapp	A	G	12: 54,738,878 (GRCm39)	S87P	probably benign	Het
Efnb3	A	G	11: 69,448,031 (GRCm39)	I137T	probably damaging	Het
Eif4e	T	A	3: 138,259,488 (GRCm39)		probably benign	Het
Fam83b	T	A	9: 76,400,324 (GRCm39)	I260L	probably benign	Het
Fras1	A	G	5: 96,929,619 (GRCm39)	T4008A	probably damaging	Het
Fut8	A	T	12: 77,412,003 (GRCm39)	R118W	probably damaging	Het
Glt1d1	A	C	5: 127,734,183 (GRCm39)	D119A	probably benign	Het
Gm3727	T	A	14: 7,261,685 (GRCm38)	*206C	probably null	Het
Gmip	G	A	8: 70,264,261 (GRCm39)	V174M	possibly damaging	Het
Gtf2ird1	A	G	5: 134,417,983 (GRCm39)		probably null	Het
Haao	C	T	17: 84,154,078 (GRCm39)	C23Y	probably damaging	Het
Hip1	A	T	5: 135,453,728 (GRCm39)	V400E	probably damaging	Het
Keg1	A	G	19: 12,696,461 (GRCm39)	N215S	probably damaging	Het
Lss	T	G	10: 76,376,785 (GRCm39)	I334S	probably damaging	Het
Lyn	A	C	4: 3,745,327 (GRCm39)	E77D	probably benign	Het
Myo3a	A	G	2: 22,468,210 (GRCm39)	E1426G	probably benign	Het
Ncapg2	A	G	12: 116,403,677 (GRCm39)	E863G	possibly damaging	Het
Ncl	T	C	1: 86,280,319 (GRCm39)	Y496C	probably damaging	Het
Nefm	A	T	14: 68,358,739 (GRCm39)	S432T	probably benign	Het
Nipsnap1	A	G	11: 4,834,096 (GRCm39)	Y95C	possibly damaging	Het
Npc1l1	C	A	11: 6,168,643 (GRCm39)	E913*	probably null	Het
Nup205	T	C	6: 35,209,349 (GRCm39)	L1552P	probably damaging	Het
Or2t46	A	G	11: 58,472,539 (GRCm39)	N290D	probably damaging	Het
Or4c112	G	T	2: 88,854,199 (GRCm39)	Y49*	probably null	Het
Or7c70	C	T	10: 78,683,201 (GRCm39)	E183K	probably benign	Het
Osm	A	C	11: 4,188,426 (GRCm39)	I18L	unknown	Het
Otoa	T	A	7: 120,710,217 (GRCm39)	S254R	probably damaging	Het
Parp1	T	C	1: 180,427,155 (GRCm39)		probably benign	Het
Pcdh17	A	G	14: 84,770,551 (GRCm39)	I1010V	probably benign	Het
Peli2	A	T	14: 48,490,032 (GRCm39)		probably null	Het
Pkd1l3	T	G	8: 110,388,738 (GRCm39)		probably benign	Het
Pkhd1	A	G	1: 20,151,524 (GRCm39)		probably benign	Het
Polg2	A	C	11: 106,659,163 (GRCm39)	V450G	probably benign	Het
Potegl	A	T	2: 23,102,817 (GRCm39)	Y185F	possibly damaging	Het
Ptpn13	A	T	5: 103,664,214 (GRCm39)	T401S	probably benign	Het
Rgs22	C	T	15: 36,043,350 (GRCm39)		probably null	Het
Rttn	T	G	18: 89,061,152 (GRCm39)	S1107A	probably benign	Het
Scn5a	G	T	9: 119,366,702 (GRCm39)	N328K	probably benign	Het
Sned1	G	A	1: 93,217,089 (GRCm39)	A1325T	probably benign	Het
St8sia4	T	A	1: 95,588,595 (GRCm39)	E80V	probably benign	Het
Stard7	T	C	2: 127,134,176 (GRCm39)		probably benign	Het
Suco	G	T	1: 161,647,990 (GRCm39)	P1099T	probably damaging	Het
Syn2	G	T	6: 115,251,221 (GRCm39)	C459F	probably damaging	Het
Tas2r117	A	C	6: 132,780,041 (GRCm39)	I60L	probably benign	Het
Tomm70a	T	C	16: 56,965,150 (GRCm39)	C445R	probably damaging	Het
Tpsab1	T	A	17: 25,564,102 (GRCm39)	D87V	probably benign	Het
Trgc4	A	G	13: 19,536,416 (GRCm39)	Y158C	unknown	Het
Trpm6	A	T	19: 18,815,446 (GRCm39)	E1177D	possibly damaging	Het
Vmn2r71	A	T	7: 85,273,499 (GRCm39)	D771V	probably damaging	Het
Vmn2r93	A	T	17: 18,525,220 (GRCm39)	T293S	probably damaging	Het

Other mutations in Or52h7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01311:Or52h7	APN	7	104,214,036 (GRCm39)	missense	probably damaging	1.00
IGL01620:Or52h7	APN	7	104,214,220 (GRCm39)	missense	probably damaging	0.97
IGL01712:Or52h7	APN	7	104,214,226 (GRCm39)	missense	probably benign
IGL02211:Or52h7	APN	7	104,214,333 (GRCm39)	nonsense	probably null
K7894:Or52h7	UTSW	7	104,213,739 (GRCm39)	missense	probably benign	0.12
R0138:Or52h7	UTSW	7	104,214,210 (GRCm39)	missense	probably benign
R0632:Or52h7	UTSW	7	104,213,544 (GRCm39)	missense	probably benign	0.00
R1457:Or52h7	UTSW	7	104,214,278 (GRCm39)	missense	probably damaging	1.00
R1494:Or52h7	UTSW	7	104,214,038 (GRCm39)	nonsense	probably null
R1879:Or52h7	UTSW	7	104,214,118 (GRCm39)	missense	possibly damaging	0.93
R2188:Or52h7	UTSW	7	104,213,883 (GRCm39)	missense	probably benign	0.00
R2323:Or52h7	UTSW	7	104,213,826 (GRCm39)	missense	probably benign	0.01
R3862:Or52h7	UTSW	7	104,214,145 (GRCm39)	missense	probably benign	0.01
R3908:Or52h7	UTSW	7	104,213,848 (GRCm39)	missense	probably benign	0.01
R4942:Or52h7	UTSW	7	104,214,212 (GRCm39)	missense	probably benign	0.00
R5443:Or52h7	UTSW	7	104,213,583 (GRCm39)	missense	probably benign	0.14
R5572:Or52h7	UTSW	7	104,214,201 (GRCm39)	missense	probably benign	0.08
R6045:Or52h7	UTSW	7	104,213,974 (GRCm39)	missense	probably benign	0.42
R6973:Or52h7	UTSW	7	104,214,183 (GRCm39)	missense	probably benign	0.42
R7147:Or52h7	UTSW	7	104,213,273 (GRCm39)	start gained	probably benign
R7349:Or52h7	UTSW	7	104,213,857 (GRCm39)	missense	probably benign
R7968:Or52h7	UTSW	7	104,213,857 (GRCm39)	missense	probably benign	0.01
R8031:Or52h7	UTSW	7	104,214,316 (GRCm39)	missense	probably damaging	0.99
R8129:Or52h7	UTSW	7	104,213,584 (GRCm39)	missense	probably benign	0.07
R8198:Or52h7	UTSW	7	104,214,140 (GRCm39)	missense	probably benign	0.01
R8296:Or52h7	UTSW	7	104,213,593 (GRCm39)	missense	probably benign
R8345:Or52h7	UTSW	7	104,213,431 (GRCm39)	start codon destroyed	probably null	0.08
R8475:Or52h7	UTSW	7	104,214,066 (GRCm39)	missense	probably benign
R8875:Or52h7	UTSW	7	104,213,670 (GRCm39)	missense	probably benign	0.00
R8881:Or52h7	UTSW	7	104,213,619 (GRCm39)	missense	possibly damaging	0.58
R8927:Or52h7	UTSW	7	104,214,229 (GRCm39)	missense	probably damaging	1.00
R8928:Or52h7	UTSW	7	104,214,229 (GRCm39)	missense	probably damaging	1.00
X0024:Or52h7	UTSW	7	104,213,457 (GRCm39)	missense	possibly damaging	0.94

Posted On

2016-08-02