Mutagenetix > Incidental Mutation

Incidental Mutation 'R9157:Or4b1'

695418

Institutional Source

Beutler Lab

Gene Symbol

Or4b1

Ensembl Gene

ENSMUSG00000075065

Gene Name

olfactory receptor family 4 subfamily B member 1

Synonyms

Olfr1270, GA_x6K02T2Q125-51584440-51583526, MOR227-1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R9157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89979363-89980380 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89979522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 276 (I276T)

Ref Sequence

ENSEMBL: ENSMUSP00000151124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099754] [ENSMUST00000213946] [ENSMUST00000215578] [ENSMUST00000215975] [ENSMUST00000216354] [ENSMUST00000217139]

AlphaFold

Q8VGP3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099754
AA Change: I276T

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097343
Gene: ENSMUSG00000075065
AA Change: I276T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.3e-54	PFAM
Pfam:7TM_GPCR_Srsx	33	300	7.5e-6	PFAM
Pfam:7tm_1	39	285	2e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213946
AA Change: I276T

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215578
AA Change: I276T

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215975
AA Change: I276T

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216354
AA Change: I276T

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217139
AA Change: I276T

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,207,220 (GRCm39)	T324A	probably benign	Het
Adam9	A	T	8: 25,493,331 (GRCm39)	F92L	probably damaging	Het
Adgrb1	A	G	15: 74,411,624 (GRCm39)	T376A	probably damaging	Het
Aff3	A	C	1: 38,249,559 (GRCm39)	I516S	probably benign	Het
Bdp1	C	T	13: 100,186,436 (GRCm39)	S1672N	probably benign	Het
Btc	A	T	5: 91,513,980 (GRCm39)	I94N	probably damaging	Het
Ccdc168	A	G	1: 44,096,520 (GRCm39)	V1526A	probably benign	Het
Ccdc47	A	T	11: 106,093,208 (GRCm39)		probably null	Het
Ceacam5	A	T	7: 17,493,419 (GRCm39)	Y814F	possibly damaging	Het
Celsr3	A	T	9: 108,707,185 (GRCm39)	R1223W	probably damaging	Het
Cenpc1	A	G	5: 86,166,316 (GRCm39)	M779T	probably benign	Het
Cfap20dc	T	A	14: 8,518,635 (GRCm38)	T274S	probably benign	Het
Depdc5	T	C	5: 33,102,452 (GRCm39)	I986T	probably damaging	Het
Dhx40	A	T	11: 86,662,050 (GRCm39)	I669N	probably damaging	Het
Dnah1	T	A	14: 30,987,970 (GRCm39)	I3483F	probably damaging	Het
Dzip3	C	T	16: 48,748,124 (GRCm39)	G918D	probably benign	Het
Fam185a	T	G	5: 21,660,837 (GRCm39)	V284G	probably damaging	Het
Fhod3	T	C	18: 25,218,651 (GRCm39)	S805P	probably damaging	Het
Filip1l	A	G	16: 57,391,980 (GRCm39)	N856S	probably benign	Het
Gm12887	C	T	4: 121,473,701 (GRCm39)	V50M	probably benign	Het
Gm45785	T	C	7: 140,398,616 (GRCm39)	I94V	unknown	Het
Gm9195	A	G	14: 72,692,038 (GRCm39)	I1616T	unknown	Het
Grm4	T	A	17: 27,653,956 (GRCm39)	I665F	probably benign	Het
Hcls1	C	T	16: 36,777,000 (GRCm39)	A230V	probably benign	Het
Hic1	A	G	11: 75,057,053 (GRCm39)	L612P	possibly damaging	Het
Hmcn1	A	C	1: 150,522,343 (GRCm39)	V3519G	probably benign	Het
Hmgcs1	A	G	13: 120,165,963 (GRCm39)	Y360C	probably benign	Het
Hspa12a	A	T	19: 58,789,292 (GRCm39)	M448K	possibly damaging	Het
Htt	T	G	5: 34,987,171 (GRCm39)	I1130S	probably null	Het
Irx3	A	G	8: 92,527,694 (GRCm39)	Y59H	probably damaging	Het
Klc4	A	G	17: 46,950,361 (GRCm39)	L280P	probably damaging	Het
Lrp1	G	T	10: 127,410,209 (GRCm39)	N1512K	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Marco	T	C	1: 120,421,814 (GRCm39)	E130G	probably damaging	Het
Mdga1	G	A	17: 30,057,491 (GRCm39)	T775M	probably damaging	Het
Ms4a18	A	T	19: 10,988,804 (GRCm39)	L184Q	probably damaging	Het
Msi2	A	C	11: 88,608,889 (GRCm39)	S10A	probably benign	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Ngfr	AAGCAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAGCAG	11: 95,478,316 (GRCm39)		probably benign	Het
Nradd	A	G	9: 110,451,188 (GRCm39)	L60P	probably damaging	Het
Nup188	A	G	2: 30,188,456 (GRCm39)	Y39C	probably benign	Het
Odf2	G	T	2: 29,816,815 (GRCm39)	G754C	probably benign	Het
Or10a2	A	T	7: 106,673,214 (GRCm39)	M60L	probably damaging	Het
Or12d15	A	G	17: 37,694,183 (GRCm39)	M242V	probably benign	Het
Or13d1	A	G	4: 52,971,419 (GRCm39)	Y266C	possibly damaging	Het
Osbpl6	C	T	2: 76,382,468 (GRCm39)	P222S	probably benign	Het
Pcdhga3	T	C	18: 37,809,229 (GRCm39)	Y561H	probably benign	Het
Phykpl	G	A	11: 51,490,375 (GRCm39)	V419I	probably benign	Het
Pskh1	A	G	8: 106,640,142 (GRCm39)	Y274C	possibly damaging	Het
Rap1gap	G	T	4: 137,444,742 (GRCm39)	V219F	probably damaging	Het
Rapgef4	C	A	2: 72,005,212 (GRCm39)	H220N	probably benign	Het
Rcor3	G	T	1: 191,810,181 (GRCm39)	H165Q	possibly damaging	Het
Reg3d	T	C	6: 78,354,422 (GRCm39)	T60A	possibly damaging	Het
Rgs9	T	A	11: 109,116,549 (GRCm39)	D644V	probably damaging	Het
Rhob	T	A	12: 8,549,319 (GRCm39)	H105L	probably benign	Het
Rph3a	T	C	5: 121,101,892 (GRCm39)	K115E	probably damaging	Het
Rsf1	GG	GGGGACGGCCG	7: 97,229,113 (GRCm39)		probably benign	Het
Scn4b	T	A	9: 45,058,013 (GRCm39)	V35E	probably damaging	Het
Serpina3i	T	C	12: 104,231,672 (GRCm39)	I103T	probably damaging	Het
Sidt2	T	C	9: 45,852,658 (GRCm39)	T776A	possibly damaging	Het
Slc15a1	T	C	14: 121,702,389 (GRCm39)	I586V	probably benign	Het
Slc15a5	A	T	6: 137,961,456 (GRCm39)	V213E		Het
Stard13	C	A	5: 151,157,152 (GRCm39)	A10S	probably benign	Het
Taf6	C	A	5: 138,179,221 (GRCm39)	V406F	possibly damaging	Het
Tap2	G	T	17: 34,431,004 (GRCm39)	R368L	possibly damaging	Het
Tmem236	T	C	2: 14,223,889 (GRCm39)	V226A	probably benign	Het
Tmem87a	T	A	2: 120,210,093 (GRCm39)	I287F	possibly damaging	Het
Ttll13	A	T	7: 79,904,428 (GRCm39)	K351I	possibly damaging	Het
Ttn	T	A	2: 76,581,245 (GRCm39)	Y23216F	probably damaging	Het
Vmn2r27	T	C	6: 124,201,244 (GRCm39)	T238A	probably benign	Het
Vmn2r54	T	C	7: 12,366,055 (GRCm39)	Y293C	possibly damaging	Het
Vsig10l	T	C	7: 43,112,948 (GRCm39)	S69P		Het
Wdr83	G	A	8: 85,806,432 (GRCm39)	T122I	probably damaging	Het
Zfp219	A	G	14: 52,246,200 (GRCm39)	V309A	probably damaging	Het
Zfp354a	C	T	11: 50,960,788 (GRCm39)	S332F	probably damaging	Het
Zfp354b	T	C	11: 50,813,887 (GRCm39)	N346S	possibly damaging	Het

Other mutations in Or4b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02648:Or4b1	APN	2	89,979,697 (GRCm39)	missense	possibly damaging	0.61
IGL03034:Or4b1	APN	2	89,980,177 (GRCm39)	missense	probably damaging	1.00
R0726:Or4b1	UTSW	2	89,979,627 (GRCm39)	missense	probably damaging	1.00
R1573:Or4b1	UTSW	2	89,979,068 (GRCm39)	utr 3 prime	probably benign
R1965:Or4b1	UTSW	2	89,979,748 (GRCm39)	missense	probably damaging	0.98
R1966:Or4b1	UTSW	2	89,979,748 (GRCm39)	missense	probably damaging	0.98
R2353:Or4b1	UTSW	2	89,980,062 (GRCm39)	missense	probably damaging	0.98
R3805:Or4b1	UTSW	2	89,978,805 (GRCm39)	utr 3 prime	probably benign
R4606:Or4b1	UTSW	2	89,979,160 (GRCm39)	utr 3 prime	probably benign
R4662:Or4b1	UTSW	2	89,980,222 (GRCm39)	missense	probably damaging	1.00
R6198:Or4b1	UTSW	2	89,979,782 (GRCm39)	missense	probably damaging	1.00
R6596:Or4b1	UTSW	2	89,979,622 (GRCm39)	missense	possibly damaging	0.73
R6957:Or4b1	UTSW	2	89,979,494 (GRCm39)	nonsense	probably null
R7408:Or4b1	UTSW	2	89,980,188 (GRCm39)	missense	probably benign
R7418:Or4b1	UTSW	2	89,979,831 (GRCm39)	missense	probably damaging	1.00
R7454:Or4b1	UTSW	2	89,979,763 (GRCm39)	missense	possibly damaging	0.78
R7935:Or4b1	UTSW	2	89,979,928 (GRCm39)	missense	probably benign	0.00
R9006:Or4b1	UTSW	2	89,980,327 (GRCm39)	missense	probably damaging	1.00
R9454:Or4b1	UTSW	2	89,979,820 (GRCm39)	missense	probably damaging	1.00
R9478:Or4b1	UTSW	2	89,979,595 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CGTCTGTCTATGGGAGAAGGTAC -3'
(R):5'- TCCTTGTCAATTTGAGGAAGCATTC -3'

Sequencing Primer
(F):5'- ATAAAGTGTGCATTCATAGAGTCG -3'
(R):5'- TTCTGCAGAGGGGAGACGC -3'

Posted On

2022-01-20