Mutagenetix > Incidental Mutation

Incidental Mutation 'R9145:Or3a1b'

694587

Institutional Source

Beutler Lab

Gene Symbol

Or3a1b

Ensembl Gene

ENSMUSG00000070380

Gene Name

olfactory receptor family 3 subfamily A member 1B

Synonyms

GA_x6K02T2P1NL-4278037-4278984, Olfr401, MOR255-6

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R9145 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74012117-74013064 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74012526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 137 (T137I)

Ref Sequence

ENSEMBL: ENSMUSP00000149542 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079827] [ENSMUST00000213754]

AlphaFold

Q8VFX6

Predicted Effect

probably benign
Transcript: ENSMUST00000079827
AA Change: T137I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000078756
Gene: ENSMUSG00000070380
AA Change: T137I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	9.4e-51	PFAM
Pfam:7tm_1	44	293	2.2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213754
AA Change: T137I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Meta Mutation Damage Score

0.1624

Coding Region Coverage

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

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,536,032 (GRCm39)	H720L	probably benign	Het
Abca15	T	C	7: 119,987,388 (GRCm39)	Y1225H	probably benign	Het
Adck1	C	A	12: 88,335,193 (GRCm39)	N26K	probably benign	Het
Adcy3	A	G	12: 4,245,208 (GRCm39)	D382G	probably damaging	Het
Ahi1	T	A	10: 20,876,488 (GRCm39)	C800S	probably benign	Het
Ahnak	G	T	19: 8,992,287 (GRCm39)	V4524L	probably benign	Het
Aoc1l1	C	A	6: 48,952,890 (GRCm39)	R272S	probably benign	Het
Apol11a	C	T	15: 77,397,778 (GRCm39)	A43V	probably benign	Het
Arid1a	T	C	4: 133,421,214 (GRCm39)	M479V	unknown	Het
Atp13a2	T	A	4: 140,724,056 (GRCm39)	C324S	probably damaging	Het
C2cd2	T	G	16: 97,677,486 (GRCm39)	T413P	probably damaging	Het
Cct5	A	C	15: 31,591,107 (GRCm39)	D531E		Het
Chst1	A	T	2: 92,444,523 (GRCm39)	I332F	probably damaging	Het
Col12a1	A	T	9: 79,527,344 (GRCm39)	V2662D	probably benign	Het
Cts3	A	G	13: 61,712,800 (GRCm39)	Y307H	probably benign	Het
D630023F18Rik	G	A	1: 65,160,371 (GRCm39)		probably benign	Het
Dhx9	A	G	1: 153,336,826 (GRCm39)	I807T	probably damaging	Het
Exoc3l4	T	C	12: 111,388,586 (GRCm39)	L25P	probably benign	Het
Ggcx	T	A	6: 72,402,905 (GRCm39)	C288S	probably benign	Het
Gjb3	A	G	4: 127,220,140 (GRCm39)	Y131H	probably damaging	Het
Hdhd3	A	G	4: 62,417,574 (GRCm39)	S201P	probably benign	Het
Helz2	A	T	2: 180,881,848 (GRCm39)	V315E	probably damaging	Het
Hsp90aa1	A	G	12: 110,662,684 (GRCm39)		probably null	Het
Ift70a1	A	T	2: 75,810,423 (GRCm39)	Y553*	probably null	Het
Il12a	C	T	3: 68,598,875 (GRCm39)	R19W	unknown	Het
Isoc1	C	T	18: 58,806,347 (GRCm39)	A219V	possibly damaging	Het
Jup	T	A	11: 100,269,124 (GRCm39)	T430S	probably benign	Het
Klra5	C	T	6: 129,886,911 (GRCm39)	C39Y	probably benign	Het
Map4	A	T	9: 109,855,268 (GRCm39)	Q131L	probably damaging	Het
Mau2	T	A	8: 70,480,165 (GRCm39)	K314M	probably damaging	Het
Mga	A	G	2: 119,794,493 (GRCm39)	M2726V	probably benign	Het
Mgme1	G	A	2: 144,114,405 (GRCm39)		probably null	Het
Msrb2	A	G	2: 19,399,066 (GRCm39)	E143G	probably benign	Het
Muc5b	G	T	7: 141,411,350 (GRCm39)	C1432F	unknown	Het
Naglu	T	C	11: 100,961,940 (GRCm39)	Y138H	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlrp1b	A	G	11: 71,109,193 (GRCm39)	Y103H	probably benign	Het
Nodal	A	G	10: 61,259,459 (GRCm39)	N299D	probably damaging	Het
Notch1	T	C	2: 26,349,587 (GRCm39)	T2518A	probably benign	Het
Nr2e1	A	C	10: 42,448,948 (GRCm39)	S97A	probably benign	Het
Nuak1	A	T	10: 84,210,587 (GRCm39)	S500R	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Nyap1	T	C	5: 137,736,175 (GRCm39)	E104G	probably benign	Het
Or52e18	T	A	7: 104,609,204 (GRCm39)	H245L	probably damaging	Het
Palld	T	C	8: 62,330,107 (GRCm39)	T257A	probably benign	Het
Pcnx4	C	T	12: 72,603,043 (GRCm39)	P435L	probably damaging	Het
Piezo1	T	C	8: 123,208,753 (GRCm39)	T2538A	unknown	Het
Plagl1	T	C	10: 13,003,872 (GRCm39)	L380P	unknown	Het
Polrmt	G	T	10: 79,576,415 (GRCm39)	Q514K	probably benign	Het
Psg17	T	G	7: 18,553,851 (GRCm39)	D133A	probably benign	Het
Rab3b	G	A	4: 108,797,903 (GRCm39)	D185N	probably benign	Het
Ranbp2	T	A	10: 58,291,736 (GRCm39)	S248T	probably benign	Het
Rdh10	C	A	1: 16,199,430 (GRCm39)	A212D	probably damaging	Het
Rinl	A	G	7: 28,495,089 (GRCm39)	H154R		Het
Selenbp1	T	C	3: 94,851,414 (GRCm39)	M389T	probably benign	Het
Serpina1c	T	A	12: 103,862,400 (GRCm39)	H305L	possibly damaging	Het
Sh3rf2	T	A	18: 42,282,746 (GRCm39)	S467T		Het
Sipa1l1	A	G	12: 82,443,335 (GRCm39)	D875G	probably benign	Het
Slc10a6	A	T	5: 103,776,800 (GRCm39)	V100D	probably damaging	Het
Slc13a4	T	C	6: 35,247,290 (GRCm39)	I577V	possibly damaging	Het
Slc20a2	T	C	8: 23,030,447 (GRCm39)	F168L	probably benign	Het
Slc25a1	A	T	16: 17,745,108 (GRCm39)		probably null	Het
Slc5a12	A	G	2: 110,471,242 (GRCm39)	S495G	probably benign	Het
Smpdl3a	A	G	10: 57,677,028 (GRCm39)	D42G	possibly damaging	Het
Spag16	G	C	1: 70,420,459 (GRCm39)	L482F	probably damaging	Het
Susd5	G	A	9: 113,925,289 (GRCm39)	G391R	probably damaging	Het
Sync	G	T	4: 129,187,618 (GRCm39)	A217S		Het
Tha1	T	A	11: 117,759,512 (GRCm39)	N326Y	probably damaging	Het
Tjp1	A	T	7: 64,952,564 (GRCm39)	F1590Y	probably benign	Het
Tle4	T	C	19: 14,445,583 (GRCm39)	N221S	probably benign	Het
Tln1	T	C	4: 43,536,024 (GRCm39)	T2054A	probably damaging	Het
Ttll4	A	G	1: 74,718,949 (GRCm39)	K267E	probably benign	Het
Usp32	C	T	11: 84,913,118 (GRCm39)	G930D	probably damaging	Het
Vmn2r75	T	C	7: 85,813,447 (GRCm39)	N452D	probably damaging	Het
Vmn2r81	T	C	10: 79,104,028 (GRCm39)	L217P	possibly damaging	Het
Wnt2	T	A	6: 18,030,397 (GRCm39)		probably benign	Het
Zfp459	C	T	13: 67,556,735 (GRCm39)	S116N	probably benign	Het
Zfp981	C	A	4: 146,622,410 (GRCm39)	T445N	possibly damaging	Het

Other mutations in Or3a1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Or3a1b	APN	11	74,012,705 (GRCm39)	missense	probably benign	0.00
IGL01303:Or3a1b	APN	11	74,012,160 (GRCm39)	missense	probably damaging	1.00
IGL01397:Or3a1b	APN	11	74,012,590 (GRCm39)	missense	probably damaging	0.97
IGL02101:Or3a1b	APN	11	74,012,571 (GRCm39)	nonsense	probably null
IGL02121:Or3a1b	APN	11	74,012,113 (GRCm39)	splice site	probably benign
IGL02347:Or3a1b	APN	11	74,012,397 (GRCm39)	missense	probably benign	0.03
IGL03113:Or3a1b	APN	11	74,012,529 (GRCm39)	missense	probably benign	0.13
IGL03126:Or3a1b	APN	11	74,012,610 (GRCm39)	missense	probably benign	0.01
IGL03302:Or3a1b	APN	11	74,012,459 (GRCm39)	missense	possibly damaging	0.60
R0549:Or3a1b	UTSW	11	74,012,301 (GRCm39)	missense	probably damaging	1.00
R1180:Or3a1b	UTSW	11	74,012,406 (GRCm39)	missense	probably benign	0.28
R1350:Or3a1b	UTSW	11	74,013,039 (GRCm39)	missense	possibly damaging	0.96
R1800:Or3a1b	UTSW	11	74,012,234 (GRCm39)	missense	probably benign	0.00
R1808:Or3a1b	UTSW	11	74,012,257 (GRCm39)	missense	probably damaging	0.96
R1962:Or3a1b	UTSW	11	74,012,650 (GRCm39)	missense	probably benign	0.02
R1998:Or3a1b	UTSW	11	74,012,406 (GRCm39)	missense	probably benign	0.28
R1999:Or3a1b	UTSW	11	74,012,406 (GRCm39)	missense	probably benign	0.28
R2000:Or3a1b	UTSW	11	74,012,406 (GRCm39)	missense	probably benign	0.28
R2859:Or3a1b	UTSW	11	74,012,808 (GRCm39)	missense	probably damaging	1.00
R4914:Or3a1b	UTSW	11	74,012,705 (GRCm39)	missense	probably benign	0.00
R4915:Or3a1b	UTSW	11	74,012,705 (GRCm39)	missense	probably benign	0.00
R4916:Or3a1b	UTSW	11	74,012,705 (GRCm39)	missense	probably benign	0.00
R4918:Or3a1b	UTSW	11	74,012,705 (GRCm39)	missense	probably benign	0.00
R5292:Or3a1b	UTSW	11	74,012,877 (GRCm39)	missense	probably damaging	0.99
R5522:Or3a1b	UTSW	11	74,012,484 (GRCm39)	missense	probably damaging	1.00
R5761:Or3a1b	UTSW	11	74,012,335 (GRCm39)	missense	probably damaging	0.97
R6318:Or3a1b	UTSW	11	74,012,547 (GRCm39)	missense	possibly damaging	0.82
R6608:Or3a1b	UTSW	11	74,012,454 (GRCm39)	missense	probably benign	0.00
R6737:Or3a1b	UTSW	11	74,012,732 (GRCm39)	missense	probably benign
R6790:Or3a1b	UTSW	11	74,012,427 (GRCm39)	missense	probably damaging	1.00
R7243:Or3a1b	UTSW	11	74,012,559 (GRCm39)	missense	probably damaging	0.97
R7423:Or3a1b	UTSW	11	74,012,811 (GRCm39)	missense	probably benign	0.01
R7517:Or3a1b	UTSW	11	74,012,335 (GRCm39)	missense	probably damaging	0.97
R7833:Or3a1b	UTSW	11	74,012,663 (GRCm39)	missense	probably damaging	1.00
R8241:Or3a1b	UTSW	11	74,013,035 (GRCm39)	missense	probably benign	0.03
R8423:Or3a1b	UTSW	11	74,012,492 (GRCm39)	missense	probably benign	0.06
R8937:Or3a1b	UTSW	11	74,012,874 (GRCm39)	missense	probably benign	0.03
R9725:Or3a1b	UTSW	11	74,012,612 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTTCCTGGGGAATCTGTCAG -3'
(R):5'- TGATCTGGGTACTGGAGCAG -3'

Sequencing Primer
(F):5'- GGGTGCATCAGTGTCACTATTCC -3'
(R):5'- TCTGGGTACTGGAGCAGGAGAG -3'

Posted On

2022-01-20