Mutagenetix > Incidental Mutation

Incidental Mutation 'R7723:Or10d5j'

595346

Institutional Source

Beutler Lab

Gene Symbol

Or10d5j

Ensembl Gene

ENSMUSG00000047352

Gene Name

olfactory receptor family 10 subfamily D member 5J

Synonyms

GA_x6K02T2PVTD-33657378-33656440, Olfr976, MOR224-10

MMRRC Submission

045779-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R7723 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39865553-39872340 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 39867920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 104 (Y104N)

Ref Sequence

ENSEMBL: ENSMUSP00000150077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169307] [ENSMUST00000213171] [ENSMUST00000216647] [ENSMUST00000217360] [ENSMUST00000217630]

AlphaFold

Q8VF15

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169307
AA Change: Y116N

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000133083
Gene: ENSMUSG00000047352
AA Change: Y116N

Domain	Start	End	E-Value	Type
Pfam:7tm_4	43	318	1.5e-48	PFAM
Pfam:7TM_GPCR_Srsx	47	271	1.1e-5	PFAM
Pfam:7tm_1	53	300	2.8e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213171
AA Change: Y104N

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000216647

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217360
AA Change: Y104N

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217630
AA Change: Y104N

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (57/57)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apbb1ip	G	A	2: 22,761,574 (GRCm39)		probably null	Het
Brinp3	C	T	1: 146,577,409 (GRCm39)	T148I	probably damaging	Het
C1qa	A	T	4: 136,623,744 (GRCm39)	C153*	probably null	Het
Camkk1	G	T	11: 72,928,058 (GRCm39)	R363L	probably benign	Het
Ccdc80	T	G	16: 44,946,798 (GRCm39)		probably null	Het
Cenpu	T	C	8: 47,029,349 (GRCm39)	S351P	probably damaging	Het
Chd9	C	T	8: 91,741,837 (GRCm39)	L1609F	unknown	Het
Cnr1	T	A	4: 33,944,416 (GRCm39)	I268N	probably damaging	Het
Cyp3a59	A	T	5: 146,016,154 (GRCm39)	I4F	probably benign	Het
Dph6	A	G	2: 114,475,236 (GRCm39)	V93A	probably damaging	Het
Egf	T	A	3: 129,499,786 (GRCm39)	M785L	probably benign	Het
Fbn1	A	T	2: 125,223,954 (GRCm39)	C598*	probably null	Het
Fer	T	C	17: 64,203,273 (GRCm39)	S68P	probably damaging	Het
Herc1	C	T	9: 66,279,158 (GRCm39)	T22I	probably benign	Het
Kat2b	A	G	17: 53,945,415 (GRCm39)	D278G	possibly damaging	Het
Kdm1a	C	T	4: 136,285,060 (GRCm39)	V520I	probably benign	Het
Lrrc4c	G	T	2: 97,460,999 (GRCm39)	V542L	possibly damaging	Het
Lrrtm3	T	C	10: 63,924,427 (GRCm39)	T247A	possibly damaging	Het
Macf1	T	C	4: 123,326,717 (GRCm39)	S4929G	probably benign	Het
Mbd4	A	T	6: 115,822,324 (GRCm39)	H428Q	possibly damaging	Het
Mink1	C	G	11: 70,503,736 (GRCm39)	Q1183E	probably benign	Het
Myo9a	C	T	9: 59,687,141 (GRCm39)	P82L	probably damaging	Het
Nts	T	C	10: 102,320,784 (GRCm39)	T102A	probably damaging	Het
Nup35	T	C	2: 80,486,375 (GRCm39)	I230T	possibly damaging	Het
Nwd2	A	T	5: 63,965,347 (GRCm39)	T1644S	possibly damaging	Het
Nynrin	T	A	14: 56,109,502 (GRCm39)	N1536K	possibly damaging	Het
Or13p10	A	G	4: 118,522,914 (GRCm39)	S67G	probably benign	Het
Or2at4	A	G	7: 99,384,884 (GRCm39)	Y178C	possibly damaging	Het
Or2l13b	A	T	16: 19,349,358 (GRCm39)	L104*	probably null	Het
Or5d44	A	C	2: 88,141,819 (GRCm39)	V107G	possibly damaging	Het
Palld	C	T	8: 62,164,492 (GRCm39)	V400I	probably damaging	Het
Pank2	T	C	2: 131,122,258 (GRCm39)	V261A	probably damaging	Het
Pcdhb3	C	A	18: 37,435,565 (GRCm39)	N510K	probably damaging	Het
Pfkfb2	A	T	1: 130,635,325 (GRCm39)	Y79N	probably damaging	Het
Phc2	C	T	4: 128,616,882 (GRCm39)	A385V	probably benign	Het
Prob1	T	C	18: 35,785,942 (GRCm39)	T771A	possibly damaging	Het
Psmb6	T	C	11: 70,417,396 (GRCm39)	V109A	possibly damaging	Het
Ptcd1	T	C	5: 145,091,639 (GRCm39)	T487A	probably damaging	Het
Ralgapa1	A	T	12: 55,788,298 (GRCm39)	M595K	probably benign	Het
Rps12	A	T	10: 23,662,752 (GRCm39)	V14D	probably benign	Het
Scn3b	C	A	9: 40,199,693 (GRCm39)	S203*	probably null	Het
Serinc1	G	A	10: 57,403,918 (GRCm39)	P15L	probably benign	Het
Six2	A	G	17: 85,995,103 (GRCm39)	I93T	probably benign	Het
Slco1a1	T	A	6: 141,854,795 (GRCm39)	I619F	probably damaging	Het
Snx25	A	C	8: 46,491,516 (GRCm39)	V858G	probably damaging	Het
Sspo	G	A	6: 48,441,572 (GRCm39)	C1903Y	probably damaging	Het
Tas2r116	T	A	6: 132,832,867 (GRCm39)	I156N	probably benign	Het
Tasp1	G	T	2: 139,827,051 (GRCm39)	T189K	probably damaging	Het
Tdrd6	A	T	17: 43,936,851 (GRCm39)	M1399K	probably benign	Het
Tecta	C	A	9: 42,278,232 (GRCm39)	C1092F	probably damaging	Het
Tmem150a	G	A	6: 72,336,057 (GRCm39)	V215I	probably damaging	Het
Tmem176b	C	T	6: 48,812,869 (GRCm39)	V109I	probably benign	Het
Trav8d-1	T	A	14: 53,016,321 (GRCm39)	I69K	probably damaging	Het
Ttn	A	T	2: 76,638,419 (GRCm39)	L13954I	probably damaging	Het
Veph1	C	A	3: 66,113,093 (GRCm39)	C237F	possibly damaging	Het
Vmn1r121	G	A	7: 20,832,119 (GRCm39)	T107I	probably damaging	Het
Zdhhc13	G	A	7: 48,458,567 (GRCm39)	M300I	probably benign	Het
Zfp608	T	C	18: 55,030,673 (GRCm39)	D1089G	probably damaging	Het

Other mutations in Or10d5j

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00960:Or10d5j	APN	9	39,867,455 (GRCm39)	missense	probably damaging	1.00
IGL02455:Or10d5j	APN	9	39,868,198 (GRCm39)	missense	probably damaging	0.96
R1191:Or10d5j	UTSW	9	39,868,264 (GRCm39)	start codon destroyed	probably null	0.02
R1962:Or10d5j	UTSW	9	39,867,979 (GRCm39)	missense	probably benign	0.00
R2328:Or10d5j	UTSW	9	39,868,196 (GRCm39)	missense	possibly damaging	0.95
R3847:Or10d5j	UTSW	9	39,867,877 (GRCm39)	missense	probably damaging	1.00
R4032:Or10d5j	UTSW	9	39,867,629 (GRCm39)	missense	probably benign	0.14
R4620:Or10d5j	UTSW	9	39,868,205 (GRCm39)	missense	probably damaging	1.00
R5152:Or10d5j	UTSW	9	39,868,202 (GRCm39)	missense	probably benign	0.02
R5163:Or10d5j	UTSW	9	39,868,216 (GRCm39)	missense	probably damaging	1.00
R5323:Or10d5j	UTSW	9	39,868,125 (GRCm39)	nonsense	probably null
R5709:Or10d5j	UTSW	9	39,867,859 (GRCm39)	missense	probably damaging	0.98
R7028:Or10d5j	UTSW	9	39,867,641 (GRCm39)	missense	probably benign	0.00
R7085:Or10d5j	UTSW	9	39,867,808 (GRCm39)	missense	probably damaging	1.00
R8308:Or10d5j	UTSW	9	39,868,265 (GRCm39)	start codon destroyed	probably benign	0.01
R9193:Or10d5j	UTSW	9	39,867,878 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAATGTGAGGATGCTCCCATGG -3'
(R):5'- AGAGCATGCTGTTTGCCTTG -3'

Sequencing Primer
(F):5'- GGATGCTCCCATGGACAAAGC -3'
(R):5'- GGAAACCTGCTCATCTTCCTCAC -3'

Posted On

2019-11-12