Mutagenetix > Incidental Mutation

Incidental Mutation 'BB006:Or4d6'

642386

Institutional Source

Beutler Lab

Gene Symbol

Or4d6

Ensembl Gene

ENSMUSG00000067524

Gene Name

olfactory receptor family 4 subfamily D member 6

Synonyms

GA_x6K02T2RE5P-2468394-2467450, Olfr1428, MOR239-5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

BB006

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12085964-12093192 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12086118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 38 (T38I)

Ref Sequence

ENSEMBL: ENSMUSP00000147015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087824] [ENSMUST00000208391] [ENSMUST00000214103]

AlphaFold

Q0VDY1

Predicted Effect

probably benign
Transcript: ENSMUST00000087824
AA Change: T264I

PolyPhen 2 Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000085126
Gene: ENSMUSG00000067524
AA Change: T264I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	304	4.1e-43	PFAM
Pfam:7TM_GPCR_Srsx	35	305	6.2e-6	PFAM
Pfam:7tm_1	41	303	2.9e-20	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000208391
AA Change: T38I

Predicted Effect

probably benign
Transcript: ENSMUST00000214103
AA Change: T264I

PolyPhen 2 Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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
2410137M14Rik	T	A	17: 37,289,412 (GRCm39)	I105F	possibly damaging	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Adra1d	G	T	2: 131,403,600 (GRCm39)	C163*	probably null	Het
Ak9	A	G	10: 41,259,944 (GRCm39)	D874G		Het
Akap8	A	T	17: 32,528,419 (GRCm39)	S498T	probably damaging	Het
Alyref2	C	G	1: 171,331,407 (GRCm39)	F61L	probably benign	Het
Ank1	A	T	8: 23,606,123 (GRCm39)	I1172F	probably damaging	Het
Ankrd50	A	T	3: 38,511,258 (GRCm39)	F370I	probably damaging	Het
Apip	A	C	2: 102,913,366 (GRCm39)	T41P	probably benign	Het
Atg4d	G	A	9: 21,178,260 (GRCm39)	R126Q	probably null	Het
Ccdc86	A	G	19: 10,926,183 (GRCm39)	S139P	unknown	Het
Ceacam16	A	G	7: 19,587,556 (GRCm39)	L404P	probably damaging	Het
Dennd3	G	T	15: 73,436,423 (GRCm39)	V1010L	probably damaging	Het
Disp1	A	G	1: 182,917,103 (GRCm39)	S108P	probably benign	Het
Ecpas	A	G	4: 58,869,554 (GRCm39)	C238R	probably damaging	Het
Ephb2	A	G	4: 136,388,195 (GRCm39)	V635A	probably damaging	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gars1	A	G	6: 55,040,102 (GRCm39)	H343R	probably damaging	Het
Gli2	A	T	1: 118,769,772 (GRCm39)	N593K	possibly damaging	Het
Il18rap	T	A	1: 40,570,740 (GRCm39)	N227K	probably damaging	Het
Il4ra	T	C	7: 125,174,348 (GRCm39)	S297P	probably benign	Het
Itprid1	G	A	6: 55,874,946 (GRCm39)	V299M	probably damaging	Het
Jak1	A	T	4: 101,011,842 (GRCm39)	F1087I	probably damaging	Het
Klf16	A	G	10: 80,412,698 (GRCm39)	S113P	probably benign	Het
Klhl30	A	T	1: 91,283,238 (GRCm39)	E280V	possibly damaging	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lama4	A	G	10: 38,954,843 (GRCm39)	H1132R	probably damaging	Het
Lmtk3	A	G	7: 45,444,572 (GRCm39)	D1085G	unknown	Het
Lrrc9	C	A	12: 72,533,071 (GRCm39)	T980K	possibly damaging	Het
Nceh1	A	G	3: 27,333,396 (GRCm39)	D164G	probably benign	Het
Nlrp2	A	G	7: 5,330,498 (GRCm39)	S633P	probably damaging	Het
Nxn	A	G	11: 76,164,863 (GRCm39)	V216A	possibly damaging	Het
Odf4	A	T	11: 68,813,759 (GRCm39)	V143D	possibly damaging	Het
Pex12	A	G	11: 83,188,809 (GRCm39)	I62T	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Plekhg1	G	A	10: 3,869,170 (GRCm39)	D237N	probably damaging	Het
Rxrb	T	A	17: 34,255,645 (GRCm39)	D377E	probably benign	Het
Ryr2	T	A	13: 11,609,680 (GRCm39)	D4382V	probably damaging	Het
Ryr2	T	A	13: 11,705,181 (GRCm39)	K2862*	probably null	Het
Ryr3	A	G	2: 112,664,533 (GRCm39)	L1606P	probably benign	Het
Samd3	A	G	10: 26,127,813 (GRCm39)	K270R	probably damaging	Het
Slc2a5	C	A	4: 150,223,942 (GRCm39)	F211L	probably benign	Het
Spata31	T	A	13: 65,069,532 (GRCm39)	V560D	probably benign	Het
Tbk1	A	G	10: 121,393,138 (GRCm39)	C471R	probably benign	Het
Tbx20	A	T	9: 24,637,059 (GRCm39)	S343T	possibly damaging	Het
Tesk2	A	G	4: 116,659,452 (GRCm39)	E304G	probably benign	Het
Tle1	A	G	4: 72,118,239 (GRCm39)	F2L	possibly damaging	Het
Tle4	G	T	19: 14,495,244 (GRCm39)	P162T	probably benign	Het
Ttn	G	A	2: 76,673,816 (GRCm39)	P11172S	unknown	Het
Tulp1	T	C	17: 28,572,746 (GRCm39)	N470S	possibly damaging	Het
Unc13b	A	G	4: 43,174,399 (GRCm39)	I1742M	unknown	Het
Vmn2r107	T	G	17: 20,565,706 (GRCm39)	I7S	probably null	Het
Vmn2r91	T	G	17: 18,327,906 (GRCm39)	I500R	probably damaging	Het
Xpnpep3	A	G	15: 81,311,626 (GRCm39)	I111V	probably damaging	Het
Zp3r	T	A	1: 130,519,217 (GRCm39)	E308V	probably benign	Het

Other mutations in Or4d6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03062:Or4d6	APN	19	12,086,512 (GRCm39)	missense	probably benign	0.00
BB016:Or4d6	UTSW	19	12,086,118 (GRCm39)	missense	unknown
IGL02796:Or4d6	UTSW	19	12,086,248 (GRCm39)	missense	possibly damaging	0.85
PIT4495001:Or4d6	UTSW	19	12,086,076 (GRCm39)	missense	possibly damaging	0.65
R0541:Or4d6	UTSW	19	12,086,884 (GRCm39)	missense	possibly damaging	0.85
R1169:Or4d6	UTSW	19	12,086,853 (GRCm39)	missense	probably benign
R1918:Or4d6	UTSW	19	12,086,871 (GRCm39)	missense	probably benign	0.06
R2915:Or4d6	UTSW	19	12,085,989 (GRCm39)	missense	probably benign	0.09
R3835:Or4d6	UTSW	19	12,086,764 (GRCm39)	missense	possibly damaging	0.92
R4470:Or4d6	UTSW	19	12,086,547 (GRCm39)	splice site	probably null
R4682:Or4d6	UTSW	19	12,086,049 (GRCm39)	missense	probably damaging	1.00
R4751:Or4d6	UTSW	19	12,086,541 (GRCm39)	missense	probably damaging	1.00
R5467:Or4d6	UTSW	19	12,086,023 (GRCm39)	missense	probably benign	0.20
R5513:Or4d6	UTSW	19	12,086,745 (GRCm39)	missense	probably damaging	1.00
R6915:Or4d6	UTSW	19	12,086,490 (GRCm39)	missense	probably benign	0.25
R7385:Or4d6	UTSW	19	12,086,061 (GRCm39)	missense	probably damaging	1.00
R7569:Or4d6	UTSW	19	12,086,385 (GRCm39)	missense	possibly damaging	0.77
R7929:Or4d6	UTSW	19	12,086,118 (GRCm39)	missense	unknown
R8442:Or4d6	UTSW	19	12,086,091 (GRCm39)	missense	probably damaging	1.00
R9215:Or4d6	UTSW	19	12,086,016 (GRCm39)	missense	probably damaging	1.00
R9467:Or4d6	UTSW	19	12,086,313 (GRCm39)	missense	possibly damaging	0.56
R9753:Or4d6	UTSW	19	12,086,056 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACTCTACCAGATGGCTCACC -3'
(R):5'- AAGCTGGCCTGCACTGATAC -3'

Sequencing Primer
(F):5'- AGATGGCTCACCCTAGCTTATTG -3'
(R):5'- CAATGGCCTGGTAACCCTGTTG -3'

Posted On

2020-08-01