Mutagenetix > Incidental Mutation

Incidental Mutation 'R3712:Or3a1d'

259677

Institutional Source

Beutler Lab

Gene Symbol

Or3a1d

Ensembl Gene

ENSMUSG00000054406

Gene Name

olfactory receptor family 3 subfamily A member 1D

Synonyms

GA_x6K02T2P1NL-4481525-4480578, MOR255-3, Olfr411

MMRRC Submission

040705-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R3712 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74237450-74238498 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74238023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 129 (I129N)

Ref Sequence

ENSEMBL: ENSMUSP00000149978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080365] [ENSMUST00000141134] [ENSMUST00000214769]

AlphaFold

Q7TRW8

Predicted Effect

probably damaging
Transcript: ENSMUST00000080365
AA Change: I129N

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

SMART Domains

Protein: ENSMUSP00000079235
Gene: ENSMUSG00000054406
AA Change: I129N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	34	311	7.1e-58	PFAM
Pfam:7tm_1	44	293	8.5e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000141134
AA Change: I9N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000214769
AA Change: I129N

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	C	A	16: 88,424,411 (GRCm39)	V27F	unknown	Het
Akr1c20	T	C	13: 4,560,222 (GRCm39)	E152G	probably damaging	Het
Alx4	G	A	2: 93,473,134 (GRCm39)	G44D	possibly damaging	Het
Arhgap31	T	A	16: 38,422,895 (GRCm39)	E1057V	possibly damaging	Het
Arhgef26	A	T	3: 62,331,050 (GRCm39)	D588V	probably damaging	Het
Bag2	T	A	1: 33,785,997 (GRCm39)	E108D	probably benign	Het
Ccdc162	C	T	10: 41,463,375 (GRCm39)	V183I	probably benign	Het
Ccdc83	A	G	7: 89,885,563 (GRCm39)		probably benign	Het
Ccnyl1	G	A	1: 64,753,827 (GRCm39)	E137K	probably damaging	Het
Celsr2	T	C	3: 108,308,155 (GRCm39)	T1849A	probably benign	Het
Cep192	C	A	18: 67,953,400 (GRCm39)	D472E	probably benign	Het
Cep57l1	A	G	10: 41,619,110 (GRCm39)	Y86H	probably damaging	Het
Cep95	G	T	11: 106,702,112 (GRCm39)	E370*	probably null	Het
Cldn10	A	G	14: 119,092,522 (GRCm39)	T41A	probably damaging	Het
Clptm1l	T	A	13: 73,764,157 (GRCm39)	Y426N	probably benign	Het
Dipk1b	T	C	2: 26,522,650 (GRCm39)	L33S	possibly damaging	Het
Eps15	T	C	4: 109,166,374 (GRCm39)	V89A	probably damaging	Het
Fam53b	A	G	7: 132,361,654 (GRCm39)	S125P	probably damaging	Het
Fbxo44	A	T	4: 148,240,461 (GRCm39)	W256R	probably benign	Het
Gnl2	T	C	4: 124,940,067 (GRCm39)	V313A	probably damaging	Het
Hyal4	A	G	6: 24,756,513 (GRCm39)	R244G	probably damaging	Het
Irf6	G	T	1: 192,844,931 (GRCm39)	W134L	probably benign	Het
Kcnu1	A	G	8: 26,371,448 (GRCm39)	T286A	probably damaging	Het
Lpcat2	T	C	8: 93,644,798 (GRCm39)	V529A	possibly damaging	Het
Lrfn2	A	G	17: 49,378,188 (GRCm39)	E423G	possibly damaging	Het
Lrp8	G	T	4: 107,705,499 (GRCm39)	R209L	probably benign	Het
Mgll	T	C	6: 88,741,570 (GRCm39)		probably benign	Het
Mix23	T	C	16: 35,901,775 (GRCm39)		probably null	Het
Mta3	A	G	17: 84,070,417 (GRCm39)	I193V	probably damaging	Het
Nedd4l	G	A	18: 65,342,790 (GRCm39)	V909I	possibly damaging	Het
Or10al5	T	A	17: 38,063,271 (GRCm39)	C175*	probably null	Het
Or5p66	A	T	7: 107,885,663 (GRCm39)	Y223*	probably null	Het
Or6c206	A	T	10: 129,097,093 (GRCm39)	K88*	probably null	Het
Orc1	T	C	4: 108,461,218 (GRCm39)	V526A	probably damaging	Het
Pard3b	T	C	1: 62,383,137 (GRCm39)	S744P	probably damaging	Het
Pcnx3	G	A	19: 5,733,367 (GRCm39)	Q155*	probably null	Het
Pcnx3	C	G	19: 5,733,368 (GRCm39)	L1F	probably null	Het
Pdcd11	T	A	19: 47,115,684 (GRCm39)		probably benign	Het
Pi4k2a	G	A	19: 42,079,131 (GRCm39)	R64Q	probably damaging	Het
Pigt	A	G	2: 164,343,565 (GRCm39)	D347G	probably benign	Het
Rbm27	T	C	18: 42,425,177 (GRCm39)		probably benign	Het
Rpl7a-ps10	A	G	9: 97,061,926 (GRCm39)	E232G	probably damaging	Het
Rprd2	A	G	3: 95,671,872 (GRCm39)	L1177P	probably damaging	Het
Rrn3	T	A	16: 13,601,959 (GRCm39)	L71*	probably null	Het
Sbspon	A	G	1: 15,962,669 (GRCm39)	C70R	probably damaging	Het
Smtn	A	T	11: 3,482,865 (GRCm39)		probably null	Het
Son	A	G	16: 91,453,614 (GRCm39)	D787G	probably damaging	Het
Sphkap	C	T	1: 83,254,833 (GRCm39)	S972N	probably benign	Het
Spopl	C	T	2: 23,427,392 (GRCm39)	R221Q	probably damaging	Het
Srp14	A	C	2: 118,309,440 (GRCm39)	L58V	probably null	Het
Sun2	A	G	15: 79,612,114 (GRCm39)	S522P	possibly damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Trdn	T	C	10: 33,033,162 (GRCm39)	I129T	probably benign	Het
Trpv3	A	G	11: 73,169,780 (GRCm39)	K117R	probably benign	Het
Ubqlnl	A	T	7: 103,798,345 (GRCm39)	I384N	probably benign	Het
Ush2a	G	A	1: 188,542,489 (GRCm39)	G3352S	probably benign	Het
Vmn1r59	A	T	7: 5,457,637 (GRCm39)	I41K	probably damaging	Het
Vmn2r125	T	A	4: 156,702,419 (GRCm39)	Y68*	probably null	Het
Zpld1	A	T	16: 55,046,799 (GRCm39)	L390*	probably null	Het

Other mutations in Or3a1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00937:Or3a1d	APN	11	74,238,255 (GRCm39)	missense	probably benign	0.00
IGL01308:Or3a1d	APN	11	74,237,486 (GRCm39)	missense	probably damaging	1.00
IGL01596:Or3a1d	APN	11	74,238,245 (GRCm39)	missense	possibly damaging	0.79
IGL02233:Or3a1d	APN	11	74,238,254 (GRCm39)	missense	possibly damaging	0.51
IGL03407:Or3a1d	APN	11	74,238,371 (GRCm39)	missense	possibly damaging	0.47
R0371:Or3a1d	UTSW	11	74,237,760 (GRCm39)	missense	probably damaging	0.99
R0924:Or3a1d	UTSW	11	74,237,624 (GRCm39)	missense	probably damaging	1.00
R0926:Or3a1d	UTSW	11	74,238,132 (GRCm39)	missense	probably benign	0.00
R1265:Or3a1d	UTSW	11	74,237,766 (GRCm39)	missense	probably benign	0.00
R4446:Or3a1d	UTSW	11	74,237,588 (GRCm39)	missense	probably benign	0.12
R4669:Or3a1d	UTSW	11	74,237,789 (GRCm39)	missense	probably benign
R4851:Or3a1d	UTSW	11	74,237,769 (GRCm39)	missense	probably benign
R4990:Or3a1d	UTSW	11	74,238,023 (GRCm39)	missense	probably damaging	1.00
R4992:Or3a1d	UTSW	11	74,238,023 (GRCm39)	missense	probably damaging	1.00
R5130:Or3a1d	UTSW	11	74,237,993 (GRCm39)	missense	probably damaging	1.00
R5171:Or3a1d	UTSW	11	74,237,640 (GRCm39)	missense	probably benign	0.08
R5240:Or3a1d	UTSW	11	74,238,068 (GRCm39)	missense	probably damaging	1.00
R5346:Or3a1d	UTSW	11	74,237,496 (GRCm39)	missense	probably benign	0.00
R5491:Or3a1d	UTSW	11	74,237,740 (GRCm39)	missense	probably benign	0.07
R5723:Or3a1d	UTSW	11	74,237,954 (GRCm39)	missense	possibly damaging	0.66
R6581:Or3a1d	UTSW	11	74,238,032 (GRCm39)	missense	probably damaging	0.98
R7561:Or3a1d	UTSW	11	74,238,436 (GRCm39)	intron	probably benign
R8881:Or3a1d	UTSW	11	74,237,471 (GRCm39)	missense	probably benign	0.00
R9028:Or3a1d	UTSW	11	74,237,747 (GRCm39)	missense	probably damaging	1.00
R9763:Or3a1d	UTSW	11	74,238,041 (GRCm39)	missense	probably damaging	1.00
Z1177:Or3a1d	UTSW	11	74,238,306 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGAATCACAGGTGCACCAG -3'
(R):5'- ATGTCGGCTGCATCAGTGTC -3'

Sequencing Primer
(F):5'- ACAGGTGCACCAGCCATGAG -3'
(R):5'- GTCACTGTCCCATCAATGTTGGG -3'

Posted On

2015-01-23