Mutagenetix > Incidental Mutation

Incidental Mutation 'R9568:Or4d5'

721767

Institutional Source

Beutler Lab

Gene Symbol

Or4d5

Ensembl Gene

ENSMUSG00000045812

Gene Name

olfactory receptor family 4 subfamily D member 5

Synonyms

Olfr984, MOR239-6, GA_x6K02T2PVTD-33799484-33798540

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R9568 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40011840-40012784 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40011864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 307 (D307E)

Ref Sequence

ENSEMBL: ENSMUSP00000150287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056795] [ENSMUST00000213858] [ENSMUST00000214856] [ENSMUST00000217536]

AlphaFold

Q8VFN1

Predicted Effect

probably benign
Transcript: ENSMUST00000056795
AA Change: D307E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000060787
Gene: ENSMUSG00000045812
AA Change: D307E

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	1.3e-42	PFAM
Pfam:7tm_1	41	287	6e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213858
AA Change: D307E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000214856
AA Change: D307E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000217536
AA Change: D307E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	T	G	12: 113,508,020 (GRCm39)	V131G	possibly damaging	Het
Agr3	G	T	12: 35,998,349 (GRCm39)	M149I	probably benign	Het
Alox12b	T	A	11: 69,054,836 (GRCm39)	C280S	possibly damaging	Het
Amhr2	C	A	15: 102,353,954 (GRCm39)	Q16K	probably benign	Het
Ank1	A	G	8: 23,609,381 (GRCm39)	T1387A	probably benign	Het
B3gnt9	A	C	8: 105,980,203 (GRCm39)	F395C	probably damaging	Het
BC048562	A	G	9: 108,322,905 (GRCm39)	D80G	probably damaging	Het
Ccdc65	T	A	15: 98,620,819 (GRCm39)	M438K	possibly damaging	Het
Ccz1	T	C	5: 143,938,251 (GRCm39)	R240G	probably damaging	Het
Cish	A	T	9: 107,177,593 (GRCm39)	S90C	probably benign	Het
Col5a2	A	T	1: 45,430,998 (GRCm39)	S881T	possibly damaging	Het
Col6a6	G	A	9: 105,657,926 (GRCm39)	T762I	possibly damaging	Het
Cpa1	A	G	6: 30,640,060 (GRCm39)	K49E	probably benign	Het
Cpb1	T	C	3: 20,320,697 (GRCm39)		probably null	Het
Csmd3	A	G	15: 48,150,942 (GRCm39)	S483P	probably damaging	Het
Cul9	G	A	17: 46,831,044 (GRCm39)	T1643I	possibly damaging	Het
Dock2	T	C	11: 34,599,638 (GRCm39)	K314E	possibly damaging	Het
Elp1	G	T	4: 56,786,711 (GRCm39)	P411T	probably damaging	Het
Fam186b	T	G	15: 99,176,571 (GRCm39)	K773T	probably damaging	Het
Fancl	T	A	11: 26,418,672 (GRCm39)	V259E	probably benign	Het
Fat4	T	G	3: 38,946,156 (GRCm39)	I1683S	probably damaging	Het
Fcamr	T	A	1: 130,732,356 (GRCm39)	H114Q	probably damaging	Het
Fndc11	T	C	2: 180,864,046 (GRCm39)	F284L	probably damaging	Het
Galns	A	G	8: 123,311,649 (GRCm39)		probably null	Het
Gch1	A	G	14: 47,426,637 (GRCm39)	S30P	probably benign	Het
Gcnt3	A	G	9: 69,942,346 (GRCm39)	I74T	probably benign	Het
Gfral	A	T	9: 76,104,383 (GRCm39)	C210S	probably damaging	Het
Gm26566	G	A	4: 88,640,247 (GRCm39)	A13T	unknown	Het
Gm9936	A	T	5: 114,995,166 (GRCm39)	D150E	unknown	Het
Gsn	C	A	2: 35,174,003 (GRCm39)	D75E	probably benign	Het
Ighd2-7	T	C	12: 113,420,344 (GRCm39)	T5A	possibly damaging	Het
Itsn1	G	T	16: 91,649,782 (GRCm39)	R152L	probably benign	Het
Klhl3	A	T	13: 58,157,126 (GRCm39)	L620Q	probably damaging	Het
Larp7-ps	G	T	4: 92,079,915 (GRCm39)	Y24*	probably null	Het
Lpl	G	A	8: 69,340,235 (GRCm39)	V77M	probably benign	Het
Lrfn3	A	T	7: 30,058,916 (GRCm39)	H436Q	probably benign	Het
Lrp1b	A	G	2: 40,569,227 (GRCm39)	C3965R		Het
Lrrc2	G	A	9: 110,799,228 (GRCm39)		probably null	Het
Manea	C	A	4: 26,340,468 (GRCm39)	D165Y	probably damaging	Het
Myom1	A	T	17: 71,394,476 (GRCm39)	Q992L	probably damaging	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nyap1	C	T	5: 137,733,394 (GRCm39)	W546*	probably null	Het
Olfml3	T	G	3: 103,644,282 (GRCm39)	Y129S	possibly damaging	Het
Or5h19	C	A	16: 58,856,213 (GRCm39)	V296F	probably damaging	Het
Or6z5	A	G	7: 6,477,334 (GRCm39)	E75G	probably damaging	Het
Or9k2b	T	A	10: 130,015,814 (GRCm39)	I312F	probably benign	Het
P2rx6	A	C	16: 17,385,300 (GRCm39)		probably null	Het
Plxnb2	A	T	15: 89,045,160 (GRCm39)	Y1095*	probably null	Het
Pmepa1	G	A	2: 173,069,794 (GRCm39)	R216C	probably damaging	Het
Prodh	A	G	16: 17,902,619 (GRCm39)		probably benign	Het
Ptch1	A	G	13: 63,689,987 (GRCm39)	Y389H	probably damaging	Het
Ptgs2	G	T	1: 149,976,842 (GRCm39)		probably null	Het
Rbm14	A	G	19: 4,861,464 (GRCm39)	Y25H	probably damaging	Het
Rfc2	T	C	5: 134,622,112 (GRCm39)	L197P	probably damaging	Het
Rnf19b	G	T	4: 128,967,397 (GRCm39)	W313L	probably damaging	Het
Sh3rf1	G	T	8: 61,825,585 (GRCm39)	A527S	probably benign	Het
Slc12a1	A	G	2: 125,032,218 (GRCm39)	Y623C	probably damaging	Het
Slc25a54	T	A	3: 109,005,932 (GRCm39)	W147R	probably damaging	Het
Slc4a1	A	G	11: 102,247,680 (GRCm39)	L401P	probably damaging	Het
Slc4a7	A	G	14: 14,796,073 (GRCm38)		probably null	Het
Stab2	A	G	10: 86,699,420 (GRCm39)	Y1933H	probably damaging	Het
Supt5	A	T	7: 28,014,688 (GRCm39)	V1037E	probably damaging	Het
Sv2b	A	T	7: 74,775,428 (GRCm39)	H466Q	probably benign	Het
Tmco5	G	A	2: 116,710,730 (GRCm39)	E17K	probably damaging	Het
Tmem69	G	A	4: 116,411,972 (GRCm39)	S12F	probably damaging	Het
Trp53	C	A	11: 69,478,392 (GRCm39)	Y100*	probably null	Het
Trpm7	A	T	2: 126,664,510 (GRCm39)	H956Q	probably benign	Het
Tsnaxip1	G	A	8: 106,569,135 (GRCm39)	R495H	probably benign	Het
Vmn1r237	A	T	17: 21,534,777 (GRCm39)	I167F	probably benign	Het
Vmn1r70	A	G	7: 10,368,292 (GRCm39)	D260G	probably benign	Het
Zbtb38	G	A	9: 96,570,944 (GRCm39)	H47Y	probably damaging	Het
Zfp184	G	T	13: 22,142,897 (GRCm39)	C201F	probably benign	Het
Zfp384	T	A	6: 125,001,796 (GRCm39)	I147N	possibly damaging	Het

Other mutations in Or4d5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Or4d5	APN	9	40,012,450 (GRCm39)	missense	probably benign	0.03
IGL01402:Or4d5	APN	9	40,012,558 (GRCm39)	missense	probably benign	0.00
IGL01404:Or4d5	APN	9	40,012,558 (GRCm39)	missense	probably benign	0.00
IGL01445:Or4d5	APN	9	40,012,608 (GRCm39)	missense	probably benign	0.45
IGL01448:Or4d5	APN	9	40,012,378 (GRCm39)	missense	probably damaging	0.97
IGL02598:Or4d5	APN	9	40,011,861 (GRCm39)	missense	probably benign
IGL03106:Or4d5	APN	9	40,012,030 (GRCm39)	missense	probably damaging	1.00
R0616:Or4d5	UTSW	9	40,012,283 (GRCm39)	missense	probably damaging	1.00
R0712:Or4d5	UTSW	9	40,012,726 (GRCm39)	missense	probably benign
R2049:Or4d5	UTSW	9	40,012,415 (GRCm39)	missense	probably benign
R2938:Or4d5	UTSW	9	40,012,039 (GRCm39)	missense	probably benign	0.20
R4609:Or4d5	UTSW	9	40,012,102 (GRCm39)	missense	possibly damaging	0.81
R4907:Or4d5	UTSW	9	40,011,955 (GRCm39)	missense	probably benign	0.02
R5001:Or4d5	UTSW	9	40,012,523 (GRCm39)	missense	probably benign	0.02
R5174:Or4d5	UTSW	9	40,012,043 (GRCm39)	missense	possibly damaging	0.87
R5587:Or4d5	UTSW	9	40,012,540 (GRCm39)	missense	probably damaging	1.00
R5880:Or4d5	UTSW	9	40,012,543 (GRCm39)	missense	possibly damaging	0.95
R5896:Or4d5	UTSW	9	40,012,189 (GRCm39)	missense	probably damaging	0.99
R6611:Or4d5	UTSW	9	40,012,316 (GRCm39)	missense	probably benign	0.03
R6904:Or4d5	UTSW	9	40,012,652 (GRCm39)	missense	probably benign	0.04
R7015:Or4d5	UTSW	9	40,012,751 (GRCm39)	missense	probably benign	0.30
R7870:Or4d5	UTSW	9	40,011,973 (GRCm39)	missense	possibly damaging	0.93
R8191:Or4d5	UTSW	9	40,012,767 (GRCm39)	missense	probably benign	0.13
R8739:Or4d5	UTSW	9	40,012,636 (GRCm39)	missense	probably benign	0.13
R8799:Or4d5	UTSW	9	40,011,985 (GRCm39)	missense	possibly damaging	0.84
R9307:Or4d5	UTSW	9	40,012,451 (GRCm39)	missense	probably benign	0.00
R9315:Or4d5	UTSW	9	40,012,270 (GRCm39)	missense	probably benign	0.02
R9497:Or4d5	UTSW	9	40,011,935 (GRCm39)	missense	probably damaging	1.00
R9554:Or4d5	UTSW	9	40,012,160 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTACCCCTGTTCTAGACATCAG -3'
(R):5'- TCACTCAAAAGAGGGTCGC -3'

Sequencing Primer
(F):5'- CCCTGTTCTAGACATCAGAAATTAAC -3'
(R):5'- AAGGCCCTGTCTACCTGTG -3'

Posted On

2022-08-09