Mutagenetix > Incidental Mutation

Incidental Mutation 'R3162:Or13c7b'

271669

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

040613-MU

Accession Numbers

Essential gene?

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

Stock #

R3162 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43820335-43821433 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43820544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 272 (K272N)

Ref Sequence

ENSEMBL: ENSMUSP00000148995 (fasta)

Gene Model

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

AlphaFold

Q8VGA9

Predicted Effect

probably benign
Transcript: ENSMUST00000079234
AA Change: K272N

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000078226
Gene: ENSMUSG00000110970
AA Change: K272N

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 benign
Transcript: ENSMUST00000079465
AA Change: K272N

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000078431
Gene: ENSMUSG00000110970
AA Change: K272N

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 benign
Transcript: ENSMUST00000214843
AA Change: K272N

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000215406
AA Change: K272N

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (49/50)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 64,053,833 (GRCm39)		probably benign	Het
4933412E24Rik	T	A	15: 59,888,134 (GRCm39)	E102V	probably damaging	Het
Adcy9	A	G	16: 4,129,452 (GRCm39)	L715P	probably damaging	Het
Adgre4	T	C	17: 56,109,218 (GRCm39)		probably benign	Het
Amer2	A	G	14: 60,616,000 (GRCm39)	D65G	probably damaging	Het
Atad2b	C	A	12: 4,989,689 (GRCm39)	N133K	possibly damaging	Het
AW551984	C	A	9: 39,504,325 (GRCm39)	R547L	probably damaging	Het
B3galt6	A	G	4: 156,076,464 (GRCm39)	Y204H	probably benign	Het
Btnl2	T	C	17: 34,577,039 (GRCm39)	W65R	probably damaging	Het
Camk1g	T	C	1: 193,042,115 (GRCm39)	T45A	possibly damaging	Het
Caps2	C	A	10: 112,018,391 (GRCm39)	Y180*	probably null	Het
Ccdc181	T	A	1: 164,107,865 (GRCm39)	S183T	probably damaging	Het
Cdc14b	A	G	13: 64,394,422 (GRCm39)		probably benign	Het
Cep350	T	C	1: 155,738,910 (GRCm39)	H2311R	probably benign	Het
Cfap54	T	A	10: 92,881,140 (GRCm39)	K349N	probably damaging	Het
Copa	T	A	1: 171,918,800 (GRCm39)	C127S	probably damaging	Het
Crbn	T	C	6: 106,767,827 (GRCm39)	Q221R	probably benign	Het
Dapk2	T	G	9: 66,161,893 (GRCm39)	V267G	probably damaging	Het
Ddb1	T	C	19: 10,603,335 (GRCm39)	L881P	probably damaging	Het
Decr1	T	A	4: 15,930,972 (GRCm39)	D120V	probably damaging	Het
Dennd1c	C	T	17: 57,373,562 (GRCm39)	G637D	possibly damaging	Het
Dhrs3	A	G	4: 144,646,016 (GRCm39)	D108G	possibly damaging	Het
Disp1	T	C	1: 182,868,806 (GRCm39)	K1205E	probably benign	Het
Dnajc13	G	T	9: 104,097,097 (GRCm39)	N510K	possibly damaging	Het
Dusp6	T	C	10: 99,099,944 (GRCm39)	Y131H	probably damaging	Het
Eif2b2	A	T	12: 85,266,435 (GRCm39)	M34L	probably benign	Het
Epsti1	A	T	14: 78,211,953 (GRCm39)		probably benign	Het
Errfi1	G	A	4: 150,951,816 (GRCm39)	E415K	probably damaging	Het
Ext1	T	C	15: 53,208,000 (GRCm39)	N254D	possibly damaging	Het
Gm7337	A	C	5: 87,999,416 (GRCm39)		noncoding transcript	Het
Hnrnpu	T	C	1: 178,158,690 (GRCm39)		probably benign	Het
Hyal3	T	A	9: 107,464,005 (GRCm39)	C407S	probably damaging	Het
Insr	T	G	8: 3,211,416 (GRCm39)	N1141T	possibly damaging	Het
Ipo9	T	C	1: 135,337,214 (GRCm39)	T174A	probably benign	Het
Iqgap1	G	A	7: 80,402,086 (GRCm39)	A393V	probably benign	Het
Irak2	G	T	6: 113,649,721 (GRCm39)	A119S	probably benign	Het
Itgb2l	A	G	16: 96,238,589 (GRCm39)	L70P	probably damaging	Het
Itsn1	C	A	16: 91,649,932 (GRCm39)	S202*	probably null	Het
Ivd	T	C	2: 118,692,650 (GRCm39)		probably null	Het
Leprot	C	T	4: 101,515,090 (GRCm39)	T89I	probably damaging	Het
Lratd2	A	T	15: 60,695,296 (GRCm39)	V150E	probably damaging	Het
Mill2	A	C	7: 18,590,099 (GRCm39)	E127A	probably benign	Het
Msh6	T	C	17: 88,292,909 (GRCm39)	Y555H	probably damaging	Het
Myo18b	A	C	5: 112,840,594 (GRCm39)	S2400A	probably damaging	Het
Naa25	A	G	5: 121,573,135 (GRCm39)		probably null	Het
Nop2	A	G	6: 125,111,555 (GRCm39)	N96S	probably benign	Het
Nup155	G	T	15: 8,177,867 (GRCm39)	R1083S	possibly damaging	Het
Nusap1	A	T	2: 119,460,885 (GRCm39)	Q126L	possibly damaging	Het
Or11g24	T	A	14: 50,662,488 (GRCm39)	C171S	probably damaging	Het
Or2z2	T	C	11: 58,346,053 (GRCm39)	T241A	probably damaging	Het
Or4c52	T	G	2: 89,845,365 (GRCm39)	Y30*	probably null	Het
Or5al1	T	C	2: 85,990,439 (GRCm39)	I92V	probably benign	Het
Or6x1	G	T	9: 40,098,901 (GRCm39)	Q163H	probably benign	Het
Or7a35	C	A	10: 78,853,438 (GRCm39)	T94N	probably benign	Het
Pde5a	T	A	3: 122,575,277 (GRCm39)	L356*	probably null	Het
Pdik1l	A	G	4: 134,011,561 (GRCm39)	L94S	probably damaging	Het
Pkdrej	T	A	15: 85,700,818 (GRCm39)	D1706V	probably damaging	Het
Pkhd1l1	A	G	15: 44,368,924 (GRCm39)	I856M	probably damaging	Het
Prkcz	A	T	4: 155,374,981 (GRCm39)	D114E	probably benign	Het
Prss59	A	G	6: 40,903,003 (GRCm39)	M123T	probably benign	Het
Psap	T	C	10: 60,113,575 (GRCm39)	L4P	possibly damaging	Het
Ptprk	T	C	10: 28,468,822 (GRCm39)	V1402A	probably benign	Het
Rai14	T	C	15: 10,633,250 (GRCm39)	T47A	possibly damaging	Het
Ralgapa1	A	T	12: 55,756,371 (GRCm39)	N1075K	probably damaging	Het
Rlf	A	G	4: 121,006,044 (GRCm39)	S979P	probably damaging	Het
Rps2	G	T	17: 24,939,952 (GRCm39)	A129S	probably benign	Het
Serinc2	A	G	4: 130,154,528 (GRCm39)	S175P	probably benign	Het
Skic2	C	T	17: 35,066,789 (GRCm39)	W88*	probably null	Het
Socs5	A	T	17: 87,442,146 (GRCm39)	Q362L	probably damaging	Het
Srbd1	A	T	17: 86,437,643 (GRCm39)	D233E	probably benign	Het
Srgap3	A	G	6: 112,706,619 (GRCm39)	V826A	probably benign	Het
Tacr2	A	G	10: 62,101,024 (GRCm39)	D378G	probably benign	Het
Taok2	A	G	7: 126,474,347 (GRCm39)	I294T	possibly damaging	Het
Tert	A	G	13: 73,775,528 (GRCm39)	E93G	possibly damaging	Het
Tns2	A	G	15: 102,021,771 (GRCm39)	E1118G	possibly damaging	Het
Topaz1	T	C	9: 122,578,446 (GRCm39)	I452T	probably benign	Het
Trak1	C	T	9: 121,280,800 (GRCm39)		probably benign	Het
Ttc22	A	T	4: 106,480,276 (GRCm39)	I177F	probably damaging	Het
Tuba8	A	G	6: 121,199,697 (GRCm39)	D127G	possibly damaging	Het
Tulp4	A	G	17: 6,248,983 (GRCm39)	M1V	probably null	Het
Urb1	A	G	16: 90,594,791 (GRCm39)	L247P	probably damaging	Het
Usp32	A	G	11: 84,916,362 (GRCm39)	W861R	probably damaging	Het
Vmn1r48	G	A	6: 90,013,360 (GRCm39)	T155I	probably benign	Het
Vmn2r117	A	G	17: 23,679,352 (GRCm39)	L624P	probably damaging	Het
Vmn2r86	T	C	10: 130,291,673 (GRCm39)	R31G	probably damaging	Het
Vstm5	T	G	9: 15,168,594 (GRCm39)	S53A	probably benign	Het
Wnt5a	T	C	14: 28,244,445 (GRCm39)	Y231H	probably benign	Het
Yeats2	T	C	16: 20,012,395 (GRCm39)	V531A	probably damaging	Het
Zw10	T	C	9: 48,988,860 (GRCm39)	Y709H	probably 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
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
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'- CACTGAACGGGGAAGTAACC -3'
(R):5'- CATCAATGTGATCAGCATGGG -3'

Sequencing Primer
(F):5'- AAGTAACCCACTTCCTTCCTCAC -3'
(R):5'- ATCAGCATGGGGGTGGC -3'

Posted On

2015-03-25