Mutagenetix > Incidental Mutation

Incidental Mutation 'R7194:Or10d4c'

559797

Institutional Source

Beutler Lab

Gene Symbol

Or10d4c

Ensembl Gene

ENSMUSG00000059106

Gene Name

olfactory receptor family 10 subfamily D member 4C

Synonyms

GA_x6K02T2PVTD-33343617-33344561, MOR224-5, Olfr961

MMRRC Submission

045335-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R7194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39558024-39558968 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39558387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 122 (V122I)

Ref Sequence

ENSEMBL: ENSMUSP00000151840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076548] [ENSMUST00000219295]

AlphaFold

Q9EQ84

Predicted Effect

probably benign
Transcript: ENSMUST00000076548
AA Change: V122I

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000075863
Gene: ENSMUSG00000059106
AA Change: V122I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	304	1.1e-50	PFAM
Pfam:7tm_1	39	286	4.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000219295
AA Change: V122I

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

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

Validation Efficiency

100% (70/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	A	G	8: 60,979,656 (GRCm39)	I173V	probably benign	Het
Abi3bp	C	T	16: 56,382,734 (GRCm39)	R115C	probably damaging	Het
Adam18	A	G	8: 25,141,868 (GRCm39)	S234P	possibly damaging	Het
Adam20	A	G	8: 41,249,449 (GRCm39)	R520G	probably benign	Het
Angel2	C	G	1: 190,677,194 (GRCm39)	T514R	probably damaging	Het
Ankar	A	T	1: 72,698,192 (GRCm39)	I954N	probably benign	Het
Ankrd7	A	T	6: 18,879,342 (GRCm39)	Y262F	probably benign	Het
Ano8	C	A	8: 71,935,007 (GRCm39)	L398F	possibly damaging	Het
App	C	T	16: 84,822,319 (GRCm39)	V356I	probably benign	Het
Atp1a2	C	A	1: 172,108,194 (GRCm39)	E636*	probably null	Het
Cckbr	G	A	7: 105,084,552 (GRCm39)	E429K	possibly damaging	Het
Cfi	T	G	3: 129,648,708 (GRCm39)	S197R	probably damaging	Het
Chn2	A	G	6: 54,263,162 (GRCm39)		probably null	Het
Col3a1	C	A	1: 45,370,860 (GRCm39)	A405D	unknown	Het
Colec12	A	T	18: 9,848,248 (GRCm39)	N142I	probably benign	Het
Copa	T	C	1: 171,947,511 (GRCm39)	L1109P	probably damaging	Het
Cpeb3	T	A	19: 37,152,152 (GRCm39)	M75L	probably benign	Het
Cyp2d11	T	C	15: 82,275,969 (GRCm39)	Y204C	probably benign	Het
Defa17	A	G	8: 22,146,613 (GRCm39)	T80A	probably benign	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dppa5a	C	T	9: 78,275,002 (GRCm39)		probably null	Het
Fat4	G	T	3: 38,943,033 (GRCm39)	S642I	probably damaging	Het
Fat4	T	A	3: 39,038,044 (GRCm39)	C3899S	probably damaging	Het
Fn1	A	G	1: 71,641,482 (GRCm39)	V1869A	probably damaging	Het
Gm10308	A	T	17: 91,396,389 (GRCm39)	I104L	unknown	Het
Gpr139	C	T	7: 118,743,896 (GRCm39)	A230T	possibly damaging	Het
Grm8	T	C	6: 27,618,486 (GRCm39)	N452S	probably benign	Het
Hmox1	T	C	8: 75,823,551 (GRCm39)	V73A	probably benign	Het
Hspa4	A	G	11: 53,156,765 (GRCm39)	F641L	probably damaging	Het
Ifi207	T	G	1: 173,557,490 (GRCm39)	H416P	possibly damaging	Het
Igkv10-96	G	T	6: 68,609,028 (GRCm39)	T89K	possibly damaging	Het
Kmt2d	A	C	15: 98,741,714 (GRCm39)	V4482G	unknown	Het
Krt28	T	A	11: 99,265,230 (GRCm39)	K146*	probably null	Het
Krt82	T	C	15: 101,451,191 (GRCm39)	N406S	probably damaging	Het
Marveld3	A	T	8: 110,686,477 (GRCm39)		probably null	Het
Mllt6	C	T	11: 97,564,394 (GRCm39)	S370L	probably benign	Het
Muc16	A	G	9: 18,585,750 (GRCm39)	L26S	unknown	Het
Mup12	T	A	4: 60,696,734 (GRCm39)	E48V	probably benign	Het
Myh1	G	A	11: 67,102,183 (GRCm39)	V825I	probably benign	Het
Nipal3	G	A	4: 135,201,732 (GRCm39)	T152I	probably benign	Het
Nrg3	A	T	14: 39,194,435 (GRCm39)	M108K	probably benign	Het
Nup50l	T	G	6: 96,141,756 (GRCm39)	E429D	probably benign	Het
Oog3	A	T	4: 143,889,169 (GRCm39)	I3N	probably damaging	Het
Pira13	A	G	7: 3,827,792 (GRCm39)	W122R		Het
Pkhd1l1	T	C	15: 44,392,512 (GRCm39)	C1616R	probably damaging	Het
Ppa2	T	A	3: 133,053,953 (GRCm39)		probably null	Het
Ppfibp2	T	A	7: 107,322,187 (GRCm39)		probably null	Het
Ppp4c	T	C	7: 126,385,653 (GRCm39)	N229D	probably damaging	Het
Ptpn9	T	C	9: 56,929,570 (GRCm39)	F96L	probably damaging	Het
Pygl	A	G	12: 70,241,094 (GRCm39)	V742A	probably benign	Het
Ranbp2	A	G	10: 58,312,591 (GRCm39)	T1104A	probably benign	Het
Rasal1	G	A	5: 120,813,557 (GRCm39)	A644T	probably benign	Het
Rcor3	T	A	1: 191,810,261 (GRCm39)	T139S	possibly damaging	Het
Rfx5	T	A	3: 94,862,454 (GRCm39)	I37N	probably damaging	Het
Rnf112	C	T	11: 61,341,683 (GRCm39)	G374R	probably damaging	Het
Rrp12	T	C	19: 41,859,979 (GRCm39)	I1034V	probably benign	Het
Sacs	T	A	14: 61,447,538 (GRCm39)	Y3195N	possibly damaging	Het
Scn4a	A	G	11: 106,215,062 (GRCm39)	I1243T	probably benign	Het
Sirt7	A	T	11: 120,509,799 (GRCm39)	C362S	probably benign	Het
Slc17a6	T	A	7: 51,276,640 (GRCm39)	S130T	probably damaging	Het
Snrnp48	A	C	13: 38,393,875 (GRCm39)	Y60S	probably damaging	Het
Syne1	T	C	10: 5,060,859 (GRCm39)	E7260G	probably damaging	Het
Trbv15	C	T	6: 41,118,529 (GRCm39)	T95I	probably benign	Het
Trip12	A	T	1: 84,771,943 (GRCm39)	N68K	probably benign	Het
Ugcg	A	G	4: 59,213,210 (GRCm39)	Y132C	probably damaging	Het
Usp9y	A	T	Y: 1,304,672 (GRCm39)	C2391S	probably damaging	Het
Vmn1r103	C	A	7: 20,244,438 (GRCm39)	V8L	probably benign	Het
Vmn2r15	T	A	5: 109,440,649 (GRCm39)	N403I	probably damaging	Het
Zbtb11	T	C	16: 55,827,551 (GRCm39)	S1006P	probably damaging	Het

Other mutations in Or10d4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Or10d4c	APN	9	39,558,636 (GRCm39)	missense	probably benign	0.19
IGL01792:Or10d4c	APN	9	39,558,955 (GRCm39)	missense	probably benign	0.07
R0344:Or10d4c	UTSW	9	39,558,646 (GRCm39)	missense	probably damaging	1.00
R0503:Or10d4c	UTSW	9	39,558,772 (GRCm39)	missense	probably damaging	1.00
R0525:Or10d4c	UTSW	9	39,558,767 (GRCm39)	missense	probably damaging	1.00
R0531:Or10d4c	UTSW	9	39,558,168 (GRCm39)	missense	probably benign
R1188:Or10d4c	UTSW	9	39,558,772 (GRCm39)	missense	probably damaging	1.00
R1453:Or10d4c	UTSW	9	39,558,459 (GRCm39)	missense	probably benign	0.01
R2970:Or10d4c	UTSW	9	39,558,195 (GRCm39)	missense	probably damaging	1.00
R3883:Or10d4c	UTSW	9	39,558,420 (GRCm39)	missense	probably benign	0.07
R4423:Or10d4c	UTSW	9	39,558,412 (GRCm39)	missense	probably damaging	1.00
R5129:Or10d4c	UTSW	9	39,558,790 (GRCm39)	missense	probably benign	0.03
R6148:Or10d4c	UTSW	9	39,558,555 (GRCm39)	missense	probably damaging	1.00
R6738:Or10d4c	UTSW	9	39,557,957 (GRCm39)	start gained	probably benign
R6778:Or10d4c	UTSW	9	39,558,043 (GRCm39)	missense	probably damaging	1.00
R7545:Or10d4c	UTSW	9	39,558,403 (GRCm39)	missense	probably damaging	0.97
R8547:Or10d4c	UTSW	9	39,558,798 (GRCm39)	nonsense	probably null
R8956:Or10d4c	UTSW	9	39,558,496 (GRCm39)	missense	probably damaging	1.00
R9081:Or10d4c	UTSW	9	39,558,196 (GRCm39)	missense	probably damaging	1.00
R9098:Or10d4c	UTSW	9	39,558,379 (GRCm39)	missense	probably damaging	1.00
R9734:Or10d4c	UTSW	9	39,558,202 (GRCm39)	missense	probably damaging	1.00
RF008:Or10d4c	UTSW	9	39,558,559 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- AATGTATGCCTGTGCCCTGC -3'
(R):5'- TGCAGGCATGTCACAGAAG -3'

Sequencing Primer
(F):5'- ACCCATGTACTTTTTCTTGGGAAAC -3'
(R):5'- GTAATAACTCACCTCACTGGGG -3'

Posted On

2019-06-26