Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02756:Or51q1c'

306456

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or51q1c

Ensembl Gene

ENSMUSG00000094063

Gene Name

olfactory receptor family 51 subfamily Q member 1C

Synonyms

Olfr638, MOR5-1, GA_x6K02T2PBJ9-6737723-6738670

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

IGL02756

Quality Score

Status

Chromosome

Chromosomal Location

103652466-103653431 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103652866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 128 (I128T)

Ref Sequence

ENSEMBL: ENSMUSP00000151996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000138055] [ENSMUST00000209757] [ENSMUST00000215653] [ENSMUST00000218325]

AlphaFold

Q8VH20

Predicted Effect

probably damaging
Transcript: ENSMUST00000098184
AA Change: I134T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095786
Gene: ENSMUSG00000094063
AA Change: I134T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	39	318	2.6e-119	PFAM
Pfam:7TM_GPCR_Srsx	43	198	9.8e-10	PFAM
Pfam:7tm_1	49	300	7.8e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138055

SMART Domains

Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000209757
AA Change: I134T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000215653

Predicted Effect

probably damaging
Transcript: ENSMUST00000218325
AA Change: I128T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	T	10: 87,000,970 (GRCm39)	D54V	probably damaging	Het
Adamts18	C	A	8: 114,440,976 (GRCm39)		probably benign	Het
Angptl3	T	A	4: 98,919,399 (GRCm39)	L53Q	probably damaging	Het
Apc	A	G	18: 34,447,588 (GRCm39)	T1461A	probably damaging	Het
Arl11	T	A	14: 61,548,535 (GRCm39)	V115D	probably damaging	Het
Cabp4	C	A	19: 4,188,560 (GRCm39)	V173L	possibly damaging	Het
Casq1	T	A	1: 172,042,672 (GRCm39)	D230V	probably damaging	Het
Cdc42bpa	A	G	1: 179,936,824 (GRCm39)	I821V	possibly damaging	Het
Cfap65	T	C	1: 74,944,239 (GRCm39)	Y1494C	probably benign	Het
Chd1	T	A	17: 15,951,069 (GRCm39)	S215T	probably damaging	Het
Csf2rb2	T	C	15: 78,169,049 (GRCm39)	E593G	possibly damaging	Het
Cstf1	A	G	2: 172,217,795 (GRCm39)	D136G	probably damaging	Het
Ddx19b	T	C	8: 111,737,910 (GRCm39)		probably benign	Het
Dido1	A	T	2: 180,303,716 (GRCm39)	L1396Q	probably benign	Het
Ermn	A	G	2: 57,937,824 (GRCm39)	I263T	probably damaging	Het
F12	T	A	13: 55,568,880 (GRCm39)	Q294L	possibly damaging	Het
Far2	A	T	6: 148,058,889 (GRCm39)	I192F	probably damaging	Het
Fshb	T	A	2: 106,889,218 (GRCm39)	I29F	probably damaging	Het
Gcgr	T	A	11: 120,427,811 (GRCm39)	Y251N	probably benign	Het
Gpr158	A	G	2: 21,831,890 (GRCm39)	I997V	possibly damaging	Het
Gprc5d	A	G	6: 135,093,613 (GRCm39)	V98A	probably damaging	Het
H2-T23	T	C	17: 36,342,580 (GRCm39)	E186G	probably damaging	Het
Khdrbs3	C	T	15: 68,896,685 (GRCm39)	T115I	probably benign	Het
Kifap3	C	T	1: 163,689,597 (GRCm39)	T527M	probably damaging	Het
Mfsd2a	C	T	4: 122,842,332 (GRCm39)	A512T	probably benign	Het
Mmp9	A	G	2: 164,791,235 (GRCm39)	D135G	probably benign	Het
Mylk	T	C	16: 34,784,016 (GRCm39)	V1394A	probably benign	Het
Nek9	A	C	12: 85,358,110 (GRCm39)		probably null	Het
Or8k16	T	C	2: 85,520,402 (GRCm39)	S210P	probably damaging	Het
P2rx2	T	A	5: 110,490,276 (GRCm39)		probably benign	Het
P4htm	A	G	9: 108,456,977 (GRCm39)	L410P	probably damaging	Het
Pik3c2a	A	T	7: 115,963,748 (GRCm39)	W921R	probably benign	Het
Pnisr	T	C	4: 21,862,175 (GRCm39)	F288L	probably benign	Het
Ppp4r3a	C	T	12: 101,024,582 (GRCm39)		probably null	Het
Prss34	T	C	17: 25,518,251 (GRCm39)	S144P	probably damaging	Het
Qrsl1	T	C	10: 43,758,110 (GRCm39)	T328A	probably benign	Het
Rab33b	A	T	3: 51,391,945 (GRCm39)	T65S	probably damaging	Het
Rdh8	A	G	9: 20,736,637 (GRCm39)	S235G	possibly damaging	Het
Rrp12	T	C	19: 41,884,500 (GRCm39)	K6R	probably benign	Het
Sec24a	T	C	11: 51,587,560 (GRCm39)	D1025G	probably benign	Het
Sgo2a	T	G	1: 58,055,509 (GRCm39)	N564K	probably damaging	Het
Slc43a3	A	T	2: 84,774,612 (GRCm39)	M130L	probably benign	Het
Soat1	T	C	1: 156,274,145 (GRCm39)	I89V	probably benign	Het
St3gal5	A	G	6: 72,126,157 (GRCm39)	D307G	probably null	Het
Stxbp3-ps	C	T	19: 9,535,193 (GRCm39)		noncoding transcript	Het
Tacr2	A	G	10: 62,097,469 (GRCm39)		probably benign	Het
Tg	C	T	15: 66,606,435 (GRCm39)	T193I	probably benign	Het
Tnik	A	G	3: 28,596,179 (GRCm39)	T191A	probably damaging	Het
Trim27	T	C	13: 21,374,256 (GRCm39)		probably benign	Het
Usf2	A	T	7: 30,646,417 (GRCm39)	C134*	probably null	Het
Usp14	A	G	18: 10,001,769 (GRCm39)		probably null	Het
Usp47	T	C	7: 111,692,270 (GRCm39)	S911P	possibly damaging	Het
Vmn1r73	T	A	7: 11,490,574 (GRCm39)	S131T	possibly damaging	Het
Vmn2r80	T	C	10: 79,030,145 (GRCm39)	I657T	probably damaging	Het
Zfp935	A	T	13: 62,602,701 (GRCm39)	C166*	probably null	Het

Other mutations in Or51q1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:Or51q1c	APN	7	103,652,842 (GRCm39)	missense	probably damaging	1.00
IGL01901:Or51q1c	APN	7	103,653,274 (GRCm39)	missense	probably damaging	1.00
IGL02040:Or51q1c	APN	7	103,652,614 (GRCm39)	missense	probably damaging	1.00
R0122:Or51q1c	UTSW	7	103,652,565 (GRCm39)	missense	probably damaging	1.00
R0137:Or51q1c	UTSW	7	103,652,709 (GRCm39)	missense	probably benign	0.13
R0312:Or51q1c	UTSW	7	103,653,232 (GRCm39)	missense	probably damaging	1.00
R0650:Or51q1c	UTSW	7	103,652,446 (GRCm39)	splice site	probably null
R0652:Or51q1c	UTSW	7	103,652,446 (GRCm39)	splice site	probably null
R1382:Or51q1c	UTSW	7	103,652,927 (GRCm39)	missense	probably benign	0.01
R1700:Or51q1c	UTSW	7	103,653,329 (GRCm39)	nonsense	probably null
R1723:Or51q1c	UTSW	7	103,652,518 (GRCm39)	missense	probably damaging	0.97
R1745:Or51q1c	UTSW	7	103,653,270 (GRCm39)	missense	probably benign	0.02
R1840:Or51q1c	UTSW	7	103,653,324 (GRCm39)	missense	probably benign	0.00
R3408:Or51q1c	UTSW	7	103,652,550 (GRCm39)	nonsense	probably null
R3413:Or51q1c	UTSW	7	103,653,039 (GRCm39)	missense	probably damaging	0.99
R4441:Or51q1c	UTSW	7	103,653,279 (GRCm39)	missense	probably damaging	1.00
R4727:Or51q1c	UTSW	7	103,653,097 (GRCm39)	missense	probably benign	0.00
R5096:Or51q1c	UTSW	7	103,652,667 (GRCm39)	missense	probably benign	0.08
R5851:Or51q1c	UTSW	7	103,652,659 (GRCm39)	missense	probably benign	0.13
R6133:Or51q1c	UTSW	7	103,652,532 (GRCm39)	missense	possibly damaging	0.58
R6529:Or51q1c	UTSW	7	103,653,133 (GRCm39)	missense	probably benign	0.06
R6572:Or51q1c	UTSW	7	103,648,391 (GRCm39)	splice site	probably null
R6799:Or51q1c	UTSW	7	103,648,006 (GRCm39)	critical splice donor site	probably null
R7267:Or51q1c	UTSW	7	103,653,046 (GRCm39)	missense	probably benign
R9140:Or51q1c	UTSW	7	103,653,322 (GRCm39)	missense	probably damaging	1.00
X0018:Or51q1c	UTSW	7	103,652,638 (GRCm39)	missense	probably benign
X0063:Or51q1c	UTSW	7	103,652,734 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16