Mutagenetix > Incidental Mutation

Incidental Mutation 'R9469:Or4d10c'

715396

Institutional Source

Beutler Lab

Gene Symbol

Or4d10c

Ensembl Gene

ENSMUSG00000044994

Gene Name

olfactory receptor family 4 subfamily D member 10C

Synonyms

Olfr1426, MOR239-1, GA_x6K02T2RE5P-2447610-2446675

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R9469 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12064974-12069211 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 12065434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 241 (H241Y)

Ref Sequence

ENSEMBL: ENSMUSP00000108575 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112952] [ENSMUST00000208703] [ENSMUST00000217952] [ENSMUST00000219005] [ENSMUST00000219155] [ENSMUST00000219996] [ENSMUST00000220005]

AlphaFold

Q8VG74

Predicted Effect

probably benign
Transcript: ENSMUST00000112952
AA Change: H241Y

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108575
Gene: ENSMUSG00000044994
AA Change: H241Y

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	302	2.1e-49	PFAM
Pfam:7tm_1	39	300	1.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208703
AA Change: H241Y

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000217952
AA Change: H241Y

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000219005
AA Change: H241Y

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000219155
AA Change: H241Y

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000219996
AA Change: H241Y

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000220005
AA Change: H241Y

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	T	17: 57,183,283 (GRCm39)	D8V	probably benign	Het
Ada	T	A	2: 163,574,192 (GRCm39)	M155L	probably benign	Het
Adam23	A	G	1: 63,584,671 (GRCm39)	I360V	probably benign	Het
Ahnak	G	A	19: 8,988,225 (GRCm39)	G3170R	probably damaging	Het
Alb	G	A	5: 90,610,659 (GRCm39)	D80N	probably benign	Het
Amph	G	T	13: 19,270,769 (GRCm39)	G126V	probably damaging	Het
Anks1b	A	T	10: 90,733,205 (GRCm39)	M994L	possibly damaging	Het
Atp8a2	A	G	14: 60,028,668 (GRCm39)	L933P	probably benign	Het
Bcas1	T	C	2: 170,191,292 (GRCm39)	D546G	possibly damaging	Het
Bmpr2	A	C	1: 59,881,928 (GRCm39)	M186L	probably benign	Het
Clca3a2	T	C	3: 144,507,938 (GRCm39)	I711V	probably damaging	Het
Cobll1	G	A	2: 64,966,774 (GRCm39)	T128I	probably damaging	Het
Cog4	T	C	8: 111,608,804 (GRCm39)	W165R	unknown	Het
Cyp2j5	G	A	4: 96,517,731 (GRCm39)	R494*	probably null	Het
Dnah2	G	A	11: 69,321,896 (GRCm39)	A3808V	probably damaging	Het
Dnah5	A	T	15: 28,421,146 (GRCm39)	T3828S	probably benign	Het
Dsg1c	T	C	18: 20,400,947 (GRCm39)	I150T	probably damaging	Het
Ehd2	A	T	7: 15,684,332 (GRCm39)	I489N	probably damaging	Het
Fam24a	C	A	7: 130,938,392 (GRCm39)	T94K	probably damaging	Het
Gata2	A	G	6: 88,182,301 (GRCm39)	E423G	possibly damaging	Het
Gm8947	A	G	1: 151,069,063 (GRCm39)	I299V	unknown	Het
Gpr161	A	G	1: 165,133,896 (GRCm39)	I53V	possibly damaging	Het
Guca2b	G	A	4: 119,515,817 (GRCm39)	Q15*	probably null	Het
Hus1	A	G	11: 8,948,744 (GRCm39)	V219A	probably benign	Het
Il5	T	C	11: 53,614,824 (GRCm39)	W129R	probably damaging	Het
Ipmk	A	G	10: 71,201,843 (GRCm39)	Y77C	probably damaging	Het
Kcnip3	A	G	2: 127,307,322 (GRCm39)	L136P	probably benign	Het
Klhl2	G	A	8: 65,196,069 (GRCm39)	A558V	probably benign	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lig3	G	A	11: 82,686,199 (GRCm39)	C613Y	probably benign	Het
Lrriq1	A	G	10: 103,050,761 (GRCm39)	S664P	probably benign	Het
Megf6	A	G	4: 154,335,369 (GRCm39)	Y276C	probably damaging	Het
Mlph	A	G	1: 90,856,068 (GRCm39)	E119G	probably damaging	Het
Mrpl39	T	G	16: 84,517,170 (GRCm39)	R316S	probably damaging	Het
Myo18b	T	C	5: 112,994,247 (GRCm39)	D902G	probably benign	Het
Myocd	A	G	11: 65,087,220 (GRCm39)	S236P	probably benign	Het
Myom1	G	T	17: 71,368,122 (GRCm39)	A482S	possibly damaging	Het
Nol4	A	G	18: 23,085,318 (GRCm39)	V32A	probably damaging	Het
Nrp2	T	C	1: 62,804,030 (GRCm39)	Y555H	probably damaging	Het
Or12d12	T	C	17: 37,610,956 (GRCm39)	D119G	probably damaging	Het
Or52l1	A	T	7: 104,829,967 (GRCm39)	H199Q	probably damaging	Het
Or8k27	C	A	2: 86,275,787 (GRCm39)	D180Y	probably damaging	Het
Papss1	A	G	3: 131,288,959 (GRCm39)	K175E	possibly damaging	Het
Pdcd5	T	C	7: 35,343,827 (GRCm39)	M39V	probably benign	Het
Plcl2	G	A	17: 50,913,953 (GRCm39)	D321N	probably benign	Het
Plxna4	G	A	6: 32,494,526 (GRCm39)	P30L	probably benign	Het
Pou2f1	G	A	1: 165,740,830 (GRCm39)	T113I	probably benign	Het
Ptpn2	T	A	18: 67,808,907 (GRCm39)	H303L	probably benign	Het
R3hdm1	T	A	1: 128,106,921 (GRCm39)		probably null	Het
Rdx	T	C	9: 51,977,069 (GRCm39)	V106A	probably damaging	Het
Ripk2	T	C	4: 16,138,181 (GRCm39)	D249G	possibly damaging	Het
Rnf169	A	T	7: 99,575,567 (GRCm39)	S343T	possibly damaging	Het
Rnf40	T	A	7: 127,195,769 (GRCm39)	L671Q	probably damaging	Het
Scube3	C	A	17: 28,386,138 (GRCm39)	S793*	probably null	Het
Sipa1l3	A	T	7: 29,028,481 (GRCm39)	M1633K	possibly damaging	Het
Slc16a14	A	T	1: 84,900,612 (GRCm39)	N124K	probably benign	Het
Smarcd2	G	A	11: 106,163,332 (GRCm39)	A68V	probably benign	Het
Smg1	T	C	7: 117,739,774 (GRCm39)	E3391G	possibly damaging	Het
Spata32	T	C	11: 103,099,741 (GRCm39)	M255V	possibly damaging	Het
Sstr5	T	A	17: 25,710,941 (GRCm39)	Q96L	probably damaging	Het
Tcaf3	A	G	6: 42,573,828 (GRCm39)	I128T	probably benign	Het
Tfdp1	C	T	8: 13,422,965 (GRCm39)	T290M	probably benign	Het
Ticrr	C	T	7: 79,344,511 (GRCm39)	H1459Y	probably benign	Het
Tmed4	T	A	11: 6,223,763 (GRCm39)	Q171L	probably benign	Het
Tmem40	G	A	6: 115,719,321 (GRCm39)	S48F	possibly damaging	Het
Tnfaip1	A	G	11: 78,419,075 (GRCm39)		probably null	Het
Top1mt	A	G	15: 75,539,742 (GRCm39)	Y290H	probably damaging	Het
Topaz1	A	T	9: 122,577,585 (GRCm39)	D165V	probably damaging	Het
Trim44	T	C	2: 102,230,651 (GRCm39)	S127G	unknown	Het
Ubac1	G	A	2: 25,897,763 (GRCm39)	R286C	probably damaging	Het
Ube2u	A	G	4: 100,406,958 (GRCm39)	E273G	possibly damaging	Het
Vmn1r213	G	A	13: 23,196,101 (GRCm39)	S228N	probably benign	Het
Vmn2r28	A	T	7: 5,487,118 (GRCm39)	V515E	probably damaging	Het
Vps13d	A	G	4: 144,780,691 (GRCm39)	L4011P		Het
Ythdc2	T	C	18: 45,019,383 (GRCm39)	F1384S	probably damaging	Het
Zfp423	T	A	8: 88,509,519 (GRCm39)	Y275F	probably damaging	Het
Zfp493	A	G	13: 67,934,325 (GRCm39)	K93E	probably benign	Het
Zfp980	G	T	4: 145,427,687 (GRCm39)	G139W	probably benign	Het

Other mutations in Or4d10c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Or4d10c	APN	19	12,065,357 (GRCm39)	missense	probably benign	0.28
IGL01549:Or4d10c	APN	19	12,065,329 (GRCm39)	missense	probably benign	0.20
IGL02479:Or4d10c	APN	19	12,065,269 (GRCm39)	missense	probably benign	0.01
IGL03065:Or4d10c	APN	19	12,065,975 (GRCm39)	missense	possibly damaging	0.91
IGL03092:Or4d10c	APN	19	12,065,230 (GRCm39)	nonsense	probably null
IGL03046:Or4d10c	UTSW	19	12,065,391 (GRCm39)	missense	probably damaging	0.98
R0734:Or4d10c	UTSW	19	12,065,483 (GRCm39)	missense	probably benign	0.12
R1190:Or4d10c	UTSW	19	12,066,051 (GRCm39)	missense	possibly damaging	0.82
R1990:Or4d10c	UTSW	19	12,065,620 (GRCm39)	missense	probably damaging	0.98
R2331:Or4d10c	UTSW	19	12,065,522 (GRCm39)	missense	probably benign	0.00
R3500:Or4d10c	UTSW	19	12,065,421 (GRCm39)	missense	possibly damaging	0.58
R3768:Or4d10c	UTSW	19	12,065,304 (GRCm39)	missense	probably damaging	1.00
R3825:Or4d10c	UTSW	19	12,065,391 (GRCm39)	missense	probably damaging	0.98
R4589:Or4d10c	UTSW	19	12,065,305 (GRCm39)	missense	possibly damaging	0.61
R5175:Or4d10c	UTSW	19	12,065,926 (GRCm39)	missense	probably damaging	1.00
R6436:Or4d10c	UTSW	19	12,065,299 (GRCm39)	missense	probably benign	0.24
R6729:Or4d10c	UTSW	19	12,065,860 (GRCm39)	missense	probably benign	0.04
R6965:Or4d10c	UTSW	19	12,066,120 (GRCm39)	missense	possibly damaging	0.95
R7099:Or4d10c	UTSW	19	12,065,530 (GRCm39)	missense	possibly damaging	0.78
R7393:Or4d10c	UTSW	19	12,065,992 (GRCm39)	missense	probably benign	0.13
R7582:Or4d10c	UTSW	19	12,065,370 (GRCm39)	missense	probably benign	0.01
R8000:Or4d10c	UTSW	19	12,065,358 (GRCm39)	missense	probably damaging	0.98
R8803:Or4d10c	UTSW	19	12,065,469 (GRCm39)	missense	probably benign	0.07
R8833:Or4d10c	UTSW	19	12,065,643 (GRCm39)	missense	possibly damaging	0.92
R8846:Or4d10c	UTSW	19	12,065,433 (GRCm39)	missense	probably damaging	0.96
R8951:Or4d10c	UTSW	19	12,066,056 (GRCm39)	nonsense	probably null
RF011:Or4d10c	UTSW	19	12,065,611 (GRCm39)	missense	probably benign	0.09
Z1177:Or4d10c	UTSW	19	12,065,308 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AATGTTGTGACAGGGTCGAGC -3'
(R):5'- TTGCCTGCACAGACATCTTTG -3'

Sequencing Primer
(F):5'- GACAGGGTCGAGCTATTGC -3'
(R):5'- GCACAGACATCTTTGTTCTTGAG -3'

Posted On

2022-06-15