Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03046:Or4d10c'

391886

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

Accession Numbers

Essential gene?

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

Stock #

IGL03046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12064974-12069211 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12065391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 255 (V255A)

Ref Sequence

ENSEMBL: ENSMUSP00000151988 (fasta)

Gene Model

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

AlphaFold

Q8VG74

Predicted Effect

probably damaging
Transcript: ENSMUST00000112952
AA Change: V255A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108575
Gene: ENSMUSG00000044994
AA Change: V255A

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 damaging
Transcript: ENSMUST00000208703
AA Change: V255A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000217952
AA Change: V255A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219005
AA Change: V255A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219155
AA Change: V255A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219996
AA Change: V255A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000220005
AA Change: V255A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.1573

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

98% (54/55)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,636,282 (GRCm39)	M717K	probably benign	Het
Acad12	C	A	5: 121,748,029 (GRCm39)	V130L	probably benign	Het
Cdca2	T	C	14: 67,937,471 (GRCm39)		probably benign	Het
Cfap100	T	A	6: 90,389,332 (GRCm39)		probably null	Het
Cfap43	T	A	19: 47,804,302 (GRCm39)	E298V	probably damaging	Het
Cic	C	T	7: 24,990,500 (GRCm39)	P1971S	probably damaging	Het
Cnga1	T	C	5: 72,761,681 (GRCm39)	D611G	probably benign	Het
Daglb	C	T	5: 143,486,948 (GRCm39)	P522L	probably damaging	Het
Dclre1b	A	T	3: 103,710,597 (GRCm39)	I438K	probably benign	Het
Ddx5	C	A	11: 106,675,871 (GRCm39)	R273M	probably damaging	Het
Eepd1	C	T	9: 25,393,981 (GRCm39)	L82F	probably damaging	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Exoc6	T	C	19: 37,582,217 (GRCm39)		probably null	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Foxs1	T	C	2: 152,774,484 (GRCm39)	T190A	probably benign	Het
Gje1	A	G	10: 14,592,374 (GRCm39)	L136P	probably damaging	Het
Hdac11	A	G	6: 91,145,827 (GRCm39)	T176A	probably benign	Het
Hhip	C	A	8: 80,698,967 (GRCm39)	V700L	probably damaging	Het
Hps5	T	C	7: 46,426,463 (GRCm39)		probably benign	Het
Itgb1bp1	T	C	12: 21,329,436 (GRCm39)	S13G	unknown	Het
Kcna1	A	T	6: 126,619,148 (GRCm39)	L391M	possibly damaging	Het
Kif1a	C	T	1: 93,010,128 (GRCm39)	V6M	probably damaging	Het
Klhl6	T	C	16: 19,801,639 (GRCm39)	I39V	probably benign	Het
Lpcat4	C	A	2: 112,072,334 (GRCm39)		silent	Het
Ltn1	A	T	16: 87,202,509 (GRCm39)	S1047R	probably benign	Het
Mdn1	A	G	4: 32,694,495 (GRCm39)	T1073A	possibly damaging	Het
Megf10	G	T	18: 57,421,055 (GRCm39)	A898S	possibly damaging	Het
Mtmr6	T	C	14: 60,529,577 (GRCm39)		probably null	Het
Mtnr1b	T	C	9: 15,774,059 (GRCm39)	I333M	probably benign	Het
Muc5ac	G	T	7: 141,348,950 (GRCm39)	C463F	probably benign	Het
Mycbpap	G	T	11: 94,396,543 (GRCm39)	T99N	possibly damaging	Het
Myo7a	C	T	7: 97,728,534 (GRCm39)	C824Y	probably damaging	Het
N4bp2	A	G	5: 65,948,303 (GRCm39)	H311R	probably damaging	Het
Nepro	T	A	16: 44,552,509 (GRCm39)		probably benign	Het
Nop56	A	T	2: 130,117,489 (GRCm39)		probably benign	Het
Nup210	A	G	6: 90,995,978 (GRCm39)		probably benign	Het
Or7g25	T	A	9: 19,160,441 (GRCm39)	I85F	probably damaging	Het
Pcna	C	T	2: 132,093,673 (GRCm39)	E109K	probably benign	Het
Pgap6	A	T	17: 26,338,414 (GRCm39)		probably null	Het
Pkhd1	T	G	1: 20,607,589 (GRCm39)	D1089A	possibly damaging	Het
Plb1	A	G	5: 32,485,756 (GRCm39)	R847G	probably damaging	Het
Pou6f2	A	G	13: 18,303,612 (GRCm39)		probably benign	Het
Prss43	C	G	9: 110,660,049 (GRCm39)	S371C	probably benign	Het
Ralgapa1	A	T	12: 55,741,942 (GRCm39)	V1322D	probably damaging	Het
Rrp8	A	G	7: 105,384,109 (GRCm39)	V131A	probably benign	Het
Rtp1	A	T	16: 23,248,044 (GRCm39)	K39M	probably benign	Het
Sanbr	A	T	11: 23,565,150 (GRCm39)	L279Q	possibly damaging	Het
Slc1a6	A	G	10: 78,636,008 (GRCm39)	I358V	probably benign	Het
Slc25a15	T	C	8: 22,885,726 (GRCm39)		probably benign	Het
Slc43a1	G	A	2: 84,684,897 (GRCm39)		probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Spock3	T	G	8: 63,802,018 (GRCm39)		probably null	Het
Tbc1d7	T	C	13: 43,308,162 (GRCm39)		probably null	Het
Tmem184c	C	T	8: 78,326,286 (GRCm39)	W260*	probably null	Het
Trnau1ap	A	G	4: 132,039,252 (GRCm39)	Y265H	probably damaging	Het
Usp25	T	C	16: 76,871,754 (GRCm39)	F363S	probably damaging	Het
Vcl	T	C	14: 21,072,085 (GRCm39)	F817L	possibly damaging	Het
Vmn1r13	T	A	6: 57,187,717 (GRCm39)	M292K	probably benign	Het
Xpc	G	T	6: 91,487,463 (GRCm39)	A89E	probably damaging	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
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
R9469:Or4d10c	UTSW	19	12,065,434 (GRCm39)	missense	probably benign	0.20
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'- TGCCTGCACAGACATCTTTG -3'

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

Posted On

2016-06-07