Mutagenetix > Incidental Mutation

Incidental Mutation 'R5889:Or13c7b'

456212

Institutional Source

Beutler Lab

Gene Symbol

Or13c7b

Ensembl Gene

ENSMUSG00000110970

Gene Name

olfactory receptor family 13 subfamily C member 7B

Synonyms

mOR37b, GA_x6K02T2N78B-16125144-16126100, Olfr37b, OR37B, Olfr156, MOR262-6

MMRRC Submission

044090-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R5889 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43820335-43821433 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43820492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 290 (M290V)

Ref Sequence

ENSEMBL: ENSMUSP00000148995 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079234] [ENSMUST00000079465] [ENSMUST00000214843] [ENSMUST00000215406]

AlphaFold

Q8VGA9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079234
AA Change: M290V

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078226
Gene: ENSMUSG00000110970
AA Change: M290V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	314	4.8e-58	PFAM
Pfam:7tm_1	41	296	2.9e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079465
AA Change: M290V

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000078431
Gene: ENSMUSG00000110970
AA Change: M290V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	314	1.2e-58	PFAM
Pfam:7tm_1	41	296	6.5e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000214843
AA Change: M290V

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215406
AA Change: M290V

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.3%

Validation Efficiency

100% (63/63)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	C	2: 35,244,461 (GRCm39)	E297G	probably damaging	Het
Astn1	C	T	1: 158,427,950 (GRCm39)	P707L	possibly damaging	Het
Cep290	T	C	10: 100,334,936 (GRCm39)	S319P	possibly damaging	Het
Chrna4	A	C	2: 180,670,451 (GRCm39)	L435W	probably damaging	Het
Cilp	C	A	9: 65,187,625 (GRCm39)	A1240D	possibly damaging	Het
Col17a1	A	G	19: 47,637,511 (GRCm39)	F1249S	possibly damaging	Het
Creb3l3	T	C	10: 80,928,367 (GRCm39)		probably benign	Het
Cyp4f40	C	A	17: 32,894,731 (GRCm39)	T432N	probably benign	Het
Dsg1c	T	G	18: 20,416,658 (GRCm39)	I853R	possibly damaging	Het
Ebna1bp2	T	A	4: 118,478,620 (GRCm39)	D34E	probably damaging	Het
Edc4	C	T	8: 106,614,654 (GRCm39)	T112I	possibly damaging	Het
Enpep	T	A	3: 129,106,227 (GRCm39)	Y333F	probably damaging	Het
Exoc6	A	G	19: 37,570,693 (GRCm39)	H291R	probably damaging	Het
Fbln5	G	T	12: 101,731,485 (GRCm39)	N236K	probably damaging	Het
Fndc8	A	T	11: 82,789,555 (GRCm39)	T238S	probably damaging	Het
Frem3	T	C	8: 81,340,917 (GRCm39)	V1070A	probably damaging	Het
Gabra4	A	T	5: 71,729,234 (GRCm39)	N515K	possibly damaging	Het
Gemin5	A	G	11: 58,013,181 (GRCm39)	V1422A	possibly damaging	Het
Gm10118	A	G	10: 63,762,890 (GRCm39)		probably benign	Het
Grm5	A	G	7: 87,252,281 (GRCm39)	D177G	probably damaging	Het
Gtf2h4	G	A	17: 35,981,792 (GRCm39)	P147L	possibly damaging	Het
Hgsnat	T	C	8: 26,453,395 (GRCm39)	D265G	probably damaging	Het
Hsd17b4	T	A	18: 50,310,276 (GRCm39)	L513Q	probably damaging	Het
Hsd17b7	A	T	1: 169,783,487 (GRCm39)	M307K	probably benign	Het
Hspa5	T	C	2: 34,664,629 (GRCm39)	V361A	probably damaging	Het
Iqgap2	A	G	13: 95,768,550 (GRCm39)	V1450A	probably benign	Het
Itpr3	A	G	17: 27,334,039 (GRCm39)	E2037G	probably damaging	Het
Itprid2	T	A	2: 79,488,072 (GRCm39)	D718E	probably damaging	Het
Lama5	T	C	2: 179,835,467 (GRCm39)		probably benign	Het
Manba	G	T	3: 135,230,359 (GRCm39)	G311*	probably null	Het
Mettl24	T	A	10: 40,622,486 (GRCm39)	V236E	probably benign	Het
Myh3	A	G	11: 66,977,201 (GRCm39)	D310G	probably damaging	Het
Ncoa4	A	T	14: 31,888,616 (GRCm39)		probably benign	Het
Nop56	G	T	2: 130,117,902 (GRCm39)	R126L	probably damaging	Het
Nos3	C	A	5: 24,573,775 (GRCm39)		probably benign	Het
Pcdhga3	T	A	18: 37,809,662 (GRCm39)	V705D	probably damaging	Het
Prom2	C	T	2: 127,371,331 (GRCm39)	A776T	possibly damaging	Het
Prss48	A	G	3: 85,905,492 (GRCm39)	I127T	probably damaging	Het
Rtca	T	C	3: 116,293,232 (GRCm39)	Y193C	possibly damaging	Het
Samd9l	T	C	6: 3,376,460 (GRCm39)	Y267C	probably damaging	Het
Scube3	A	G	17: 28,379,887 (GRCm39)	R272G	possibly damaging	Het
Sprr1a	G	T	3: 92,391,951 (GRCm39)	H17N	probably benign	Het
Stard3	G	C	11: 98,266,361 (GRCm39)	Q120H	probably benign	Het
Supt6	A	G	11: 78,103,574 (GRCm39)	I1377T	probably damaging	Het
Svop	A	T	5: 114,203,692 (GRCm39)	S30T	probably benign	Het
Syne2	T	A	12: 76,119,026 (GRCm39)	L5882*	probably null	Het
Tanc2	G	T	11: 105,812,633 (GRCm39)	R1359L	probably benign	Het
Tmc7	A	C	7: 118,165,549 (GRCm39)	L55R	probably benign	Het
Trappc11	G	A	8: 47,972,613 (GRCm39)	A320V	probably benign	Het
Ttll8	G	C	15: 88,818,142 (GRCm39)	P178A	probably damaging	Het
Ttn	T	C	2: 76,560,993 (GRCm39)	E20809G	probably damaging	Het
Tubb2a	A	T	13: 34,259,451 (GRCm39)	V113E	possibly damaging	Het
Ube2d1	A	T	10: 71,095,699 (GRCm39)		probably benign	Het
Usp48	T	C	4: 137,343,723 (GRCm39)	V452A	probably benign	Het
Vldlr	T	A	19: 27,217,064 (GRCm39)	I39N	probably damaging	Het
Wbp1l	C	T	19: 46,642,619 (GRCm39)	R191*	probably null	Het
Zyg11b	C	T	4: 108,094,577 (GRCm39)	W669*	probably null	Het

Other mutations in Or13c7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02508:Or13c7b	APN	4	43,821,289 (GRCm39)	missense	possibly damaging	0.83
IGL02690:Or13c7b	APN	4	43,821,190 (GRCm39)	missense	possibly damaging	0.50
R1454:Or13c7b	UTSW	4	43,820,639 (GRCm39)	missense	probably damaging	1.00
R1465:Or13c7b	UTSW	4	43,820,723 (GRCm39)	missense	probably benign	0.00
R1465:Or13c7b	UTSW	4	43,820,723 (GRCm39)	missense	probably benign	0.00
R1859:Or13c7b	UTSW	4	43,820,779 (GRCm39)	missense	possibly damaging	0.91
R2146:Or13c7b	UTSW	4	43,821,178 (GRCm39)	missense	probably damaging	1.00
R3160:Or13c7b	UTSW	4	43,820,544 (GRCm39)	missense	probably benign	0.04
R3162:Or13c7b	UTSW	4	43,820,544 (GRCm39)	missense	probably benign	0.04
R3162:Or13c7b	UTSW	4	43,820,544 (GRCm39)	missense	probably benign	0.04
R3414:Or13c7b	UTSW	4	43,821,258 (GRCm39)	missense	probably benign	0.00
R3936:Or13c7b	UTSW	4	43,821,359 (GRCm39)	start codon destroyed	probably benign	0.01
R4497:Or13c7b	UTSW	4	43,821,175 (GRCm39)	missense	probably damaging	1.00
R4631:Or13c7b	UTSW	4	43,820,563 (GRCm39)	missense	probably benign	0.08
R5125:Or13c7b	UTSW	4	43,820,480 (GRCm39)	missense	probably benign	0.15
R5371:Or13c7b	UTSW	4	43,821,058 (GRCm39)	missense	probably damaging	1.00
R5698:Or13c7b	UTSW	4	43,821,183 (GRCm39)	missense	probably damaging	1.00
R5807:Or13c7b	UTSW	4	43,820,912 (GRCm39)	missense	probably benign	0.00
R6461:Or13c7b	UTSW	4	43,821,355 (GRCm39)	missense	probably benign
R6865:Or13c7b	UTSW	4	43,821,346 (GRCm39)	missense	probably benign	0.00
R7566:Or13c7b	UTSW	4	43,820,711 (GRCm39)	missense	probably damaging	1.00
R7908:Or13c7b	UTSW	4	43,821,086 (GRCm39)	missense	probably damaging	1.00
R9048:Or13c7b	UTSW	4	43,820,584 (GRCm39)	missense	probably damaging	1.00
R9252:Or13c7b	UTSW	4	43,821,109 (GRCm39)	missense	probably benign	0.13
Z1177:Or13c7b	UTSW	4	43,821,337 (GRCm39)	missense	probably benign
Z1177:Or13c7b	UTSW	4	43,820,900 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GATCTTCAGGGCTAGCCATCAAG -3'
(R):5'- CATACTCTCCACCATCCTGAGG -3'

Sequencing Primer
(F):5'- CCATCAAGGCTATGCTGAATG -3'
(R):5'- TCCACCATCCTGAGGATCCC -3'

Posted On

2017-02-15