Mutagenetix > Incidental Mutation

Incidental Mutation 'R5698:Or13c7b'

450775

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R5698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43820335-43821433 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43821183 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 59 (M59I)

Ref Sequence

ENSEMBL: ENSMUSP00000148995 (fasta)

Gene Model

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

AlphaFold

Q8VGA9

Predicted Effect

probably damaging
Transcript: ENSMUST00000079234
AA Change: M59I

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

SMART Domains

Protein: ENSMUSP00000078226
Gene: ENSMUSG00000110970
AA Change: M59I

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

probably damaging
Transcript: ENSMUST00000079465
AA Change: M59I

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

SMART Domains

Protein: ENSMUSP00000078431
Gene: ENSMUSG00000110970
AA Change: M59I

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

probably damaging
Transcript: ENSMUST00000214843
AA Change: M59I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000215406
AA Change: M59I

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	A	G	11: 3,926,366 (GRCm39)	K334E	possibly damaging	Het
Ache	G	A	5: 137,288,821 (GRCm39)	V176M	probably damaging	Het
Acss3	T	C	10: 106,784,605 (GRCm39)	D539G	probably damaging	Het
Adam6b	T	A	12: 113,455,083 (GRCm39)	D633E	probably benign	Het
Aldh16a1	G	A	7: 44,803,831 (GRCm39)		probably benign	Het
Amigo2	G	A	15: 97,143,607 (GRCm39)	Q272*	probably null	Het
Aoc1l1	A	G	6: 48,953,256 (GRCm39)	T394A	possibly damaging	Het
Appbp2	A	T	11: 85,100,925 (GRCm39)	H171Q	probably damaging	Het
Arhgef18	A	G	8: 3,489,499 (GRCm39)	D277G	probably damaging	Het
Armc8	A	G	9: 99,417,873 (GRCm39)	V95A	probably benign	Het
Atp6v0a4	C	T	6: 38,027,442 (GRCm39)		probably null	Het
Atp8a1	A	T	5: 67,924,496 (GRCm39)	N289K	probably benign	Het
Cand2	C	T	6: 115,768,704 (GRCm39)	L505F	probably damaging	Het
Ccnt2	A	G	1: 127,730,965 (GRCm39)	K614R	probably benign	Het
Col25a1	A	G	3: 130,272,632 (GRCm39)		probably null	Het
Copa	T	A	1: 171,946,511 (GRCm39)	L976*	probably null	Het
Ddx39b	T	C	17: 35,470,287 (GRCm39)	V267A	probably benign	Het
Dpp4	T	A	2: 62,164,655 (GRCm39)	Q709L	probably damaging	Het
Eno4	A	G	19: 58,956,904 (GRCm39)		probably null	Het
Exoc3	A	G	13: 74,322,134 (GRCm39)	L647P	probably benign	Het
Eya4	T	C	10: 23,015,975 (GRCm39)	S308G	possibly damaging	Het
Fbxo41	T	C	6: 85,454,638 (GRCm39)	T693A	possibly damaging	Het
Fcgbp	A	G	7: 27,791,447 (GRCm39)	T903A	possibly damaging	Het
Fkbp10	G	T	11: 100,314,352 (GRCm39)	W384L	probably damaging	Het
Frem2	A	G	3: 53,559,926 (GRCm39)	I1527T	possibly damaging	Het
H13	T	A	2: 152,530,875 (GRCm39)	I220N	probably damaging	Het
Has2	T	C	15: 56,531,312 (GRCm39)	R468G	probably damaging	Het
Ighmbp2	A	G	19: 3,324,538 (GRCm39)	S243P	probably damaging	Het
Irs1	T	C	1: 82,266,455 (GRCm39)	H587R	probably benign	Het
Kcnk1	C	T	8: 126,752,144 (GRCm39)	T250M	probably damaging	Het
Kif9	T	C	9: 110,339,532 (GRCm39)	V458A	probably benign	Het
Krt14	T	C	11: 100,096,451 (GRCm39)	T208A	probably benign	Het
Mybpc3	C	A	2: 90,955,194 (GRCm39)	H349Q	possibly damaging	Het
Neurl3	T	A	1: 36,305,587 (GRCm39)	T207S	possibly damaging	Het
Nol9	T	C	4: 152,135,031 (GRCm39)	V388A	probably damaging	Het
Notch3	T	C	17: 32,376,961 (GRCm39)	N315D	probably damaging	Het
Oas1h	G	T	5: 121,009,045 (GRCm39)	A252S	probably damaging	Het
Pcbp1	G	A	6: 86,502,134 (GRCm39)	T255M	possibly damaging	Het
Plec	A	G	15: 76,083,808 (GRCm39)	V18A	probably benign	Het
Ppp1r17	A	T	6: 56,003,529 (GRCm39)	E114V	probably damaging	Het
Scamp5	A	T	9: 57,352,716 (GRCm39)	M151K	possibly damaging	Het
Sestd1	T	C	2: 77,048,512 (GRCm39)	Y135C	possibly damaging	Het
Slc22a21	T	G	11: 53,842,175 (GRCm39)	K534N	probably benign	Het
Slc25a12	T	C	2: 71,112,917 (GRCm39)	E448G	probably damaging	Het
Slco3a1	A	G	7: 73,996,566 (GRCm39)	L280P	probably damaging	Het
Sppl2b	C	A	10: 80,701,879 (GRCm39)		probably null	Het
Srd5a2	T	C	17: 74,334,014 (GRCm39)	E135G	possibly damaging	Het
Tfg	A	T	16: 56,521,467 (GRCm39)	M183K	probably damaging	Het
Ticrr	G	A	7: 79,328,881 (GRCm39)	M673I	probably benign	Het
Tm4sf20	T	G	1: 82,745,958 (GRCm39)	M61L	probably benign	Het
Ttll8	A	T	15: 88,823,209 (GRCm39)	S85T	possibly damaging	Het
Uggt2	G	A	14: 119,280,138 (GRCm39)	S780F	probably damaging	Het
Uroc1	T	C	6: 90,324,302 (GRCm39)	L442P	probably damaging	Het
Zfp1005	C	T	2: 150,111,394 (GRCm39)	H695Y	possibly damaging	Het
Znrf3	A	G	11: 5,239,006 (GRCm39)		probably benign	Het
Zswim2	C	A	2: 83,755,527 (GRCm39)	D125Y	possibly damaging	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
R5807:Or13c7b	UTSW	4	43,820,912 (GRCm39)	missense	probably benign	0.00
R5889:Or13c7b	UTSW	4	43,820,492 (GRCm39)	missense	possibly damaging	0.89
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'- ACTTGTTCATGACCACAGGG -3'
(R):5'- AAGGAGCCAATCAGTCTACGG -3'

Sequencing Primer
(F):5'- GTTGCAGATGGCCACATAACGATC -3'
(R):5'- AGCCAATCAGTCTACGGTAGCTG -3'

Posted On

2017-01-03