Mutagenetix > Incidental Mutation

Incidental Mutation 'R0709:Or4c105'

62641

Institutional Source

Beutler Lab

Gene Symbol

Or4c105

Ensembl Gene

ENSMUSG00000064084

Gene Name

olfactory receptor family 4 subfamily C member 105

Synonyms

Olfr1202, GA_x6K02T2Q125-50290367-50291296, MOR232-7

MMRRC Submission

038892-MU

Accession Numbers

Essential gene?

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

Stock #

R0709 (G1)

Quality Score

117

Status

Validated

Chromosome

Chromosomal Location

88643145-88648446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88648226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 237 (T237I)

Ref Sequence

ENSEMBL: ENSMUSP00000150743 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072057] [ENSMUST00000214703] [ENSMUST00000217059]

AlphaFold

Q8VF98

Predicted Effect

probably benign
Transcript: ENSMUST00000072057
AA Change: T237I

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000071935
Gene: ENSMUSG00000064084
AA Change: T237I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	6.8e-47	PFAM
Pfam:7tm_1	39	285	1.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214703
AA Change: T237I

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000217059
AA Change: T237I

PolyPhen 2 Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (83/85)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,436,358 (GRCm39)	D137V	probably damaging	Het
Aar2	C	T	2: 156,408,930 (GRCm39)	P378L	probably damaging	Het
Abcc5	A	T	16: 20,195,342 (GRCm39)	H718Q	possibly damaging	Het
Ace	G	T	11: 105,872,364 (GRCm39)	L319F	probably damaging	Het
Angpt4	C	A	2: 151,776,434 (GRCm39)	P321T	possibly damaging	Het
Atrip	T	C	9: 108,896,171 (GRCm39)	N282S	probably benign	Het
AW554918	A	C	18: 25,596,711 (GRCm39)	S525R	probably damaging	Het
Ccdc136	T	A	6: 29,414,969 (GRCm39)	I644N	possibly damaging	Het
Ccdc178	A	G	18: 22,200,719 (GRCm39)	Y413H	probably damaging	Het
Ccdc7b	A	G	8: 129,863,127 (GRCm39)	H223R	probably benign	Het
Cd109	T	C	9: 78,579,260 (GRCm39)	V634A	possibly damaging	Het
Col7a1	T	A	9: 108,790,616 (GRCm39)		probably benign	Het
Copb2	A	T	9: 98,445,220 (GRCm39)		probably benign	Het
Csrnp3	C	T	2: 65,852,907 (GRCm39)	S445L	probably damaging	Het
Cxcl13	G	T	5: 96,106,530 (GRCm39)	C34F	probably damaging	Het
Dars2	T	C	1: 160,874,498 (GRCm39)	E397G	probably benign	Het
Dlg5	C	T	14: 24,196,323 (GRCm39)	V1625M	probably damaging	Het
Dnah12	T	G	14: 26,606,222 (GRCm39)		probably benign	Het
Eif4a1	C	A	11: 69,561,078 (GRCm39)	A76S	probably damaging	Het
Fam162b	T	A	10: 51,463,347 (GRCm39)	I107L	probably damaging	Het
Fbxo30	G	T	10: 11,167,057 (GRCm39)	C593F	possibly damaging	Het
Fut9	A	G	4: 25,620,359 (GRCm39)	F152L	probably damaging	Het
Galnt2	G	A	8: 125,070,085 (GRCm39)	G534D	probably benign	Het
Gm973	C	T	1: 59,597,393 (GRCm39)		probably benign	Het
Golm2	T	A	2: 121,697,906 (GRCm39)	V74E	probably damaging	Het
Gprc5a	T	A	6: 135,055,948 (GRCm39)	S132T	probably damaging	Het
Hk3	G	A	13: 55,162,543 (GRCm39)	R47C	probably damaging	Het
Hrnr	A	T	3: 93,239,815 (GRCm39)	Q3351L	unknown	Het
Icam1	T	A	9: 20,930,423 (GRCm39)	F92L	probably damaging	Het
Ifi213	C	T	1: 173,417,366 (GRCm39)	V349I	possibly damaging	Het
Il12rb2	T	C	6: 67,275,888 (GRCm39)		probably benign	Het
Irx3	A	G	8: 92,526,048 (GRCm39)	V487A	possibly damaging	Het
Kalrn	A	G	16: 33,855,924 (GRCm39)	V204A	probably damaging	Het
Krt16	T	C	11: 100,137,280 (GRCm39)		probably benign	Het
Loxhd1	G	A	18: 77,492,665 (GRCm39)	V1369I	probably benign	Het
Med13	T	A	11: 86,210,422 (GRCm39)	K573N	possibly damaging	Het
Mnat1	A	G	12: 73,234,962 (GRCm39)	R204G	possibly damaging	Het
Myt1l	A	T	12: 29,877,732 (GRCm39)	D461V	unknown	Het
Nek6	T	A	2: 38,447,858 (GRCm39)	S41T	probably damaging	Het
Nudt22	T	C	19: 6,970,874 (GRCm39)	E232G	probably damaging	Het
Numbl	C	A	7: 26,973,415 (GRCm39)	F192L	probably damaging	Het
Or7g12	T	A	9: 18,899,422 (GRCm39)	I46K	probably damaging	Het
P2rx4	T	C	5: 122,852,467 (GRCm39)	V47A	probably damaging	Het
Phka1	T	A	X: 101,629,710 (GRCm39)	I478F	probably damaging	Het
Pkn2	G	A	3: 142,536,281 (GRCm39)	T200I	probably damaging	Het
Plcg1	T	A	2: 160,593,698 (GRCm39)		probably null	Het
Polg2	C	T	11: 106,659,239 (GRCm39)	G425R	probably damaging	Het
Ptprm	G	T	17: 67,251,327 (GRCm39)		probably null	Het
Reg1	G	A	6: 78,405,101 (GRCm39)	R108H	possibly damaging	Het
Slc19a2	T	A	1: 164,084,367 (GRCm39)	F86I	probably damaging	Het
Slc26a11	T	C	11: 119,265,603 (GRCm39)	L372P	probably damaging	Het
Slc2a4	C	T	11: 69,836,985 (GRCm39)	V28M	possibly damaging	Het
Snap29	A	G	16: 17,224,012 (GRCm39)	N9S	probably damaging	Het
Snd1	C	G	6: 28,545,469 (GRCm39)		probably benign	Het
Sorcs3	G	A	19: 48,475,845 (GRCm39)	A235T	probably benign	Het
Sp100	T	A	1: 85,622,002 (GRCm39)	N362K	probably damaging	Het
Sqor	A	T	2: 122,641,775 (GRCm39)	I32F	probably benign	Het
Stx6	C	T	1: 155,069,040 (GRCm39)	R189C	probably damaging	Het
Tchp	T	C	5: 114,855,514 (GRCm39)	I298T	probably damaging	Het
Themis	A	G	10: 28,637,570 (GRCm39)	I225V	probably benign	Het
Timm50	A	T	7: 28,006,366 (GRCm39)	V245E	probably damaging	Het
Tnxb	A	G	17: 34,908,328 (GRCm39)	E1327G	probably damaging	Het
Tpp1	C	T	7: 105,398,814 (GRCm39)	R205H	probably benign	Het
Tradd	T	C	8: 105,987,276 (GRCm39)	E10G	possibly damaging	Het
Trim43a	G	A	9: 88,464,199 (GRCm39)	E37K	probably benign	Het
Ttn	T	C	2: 76,729,747 (GRCm39)		probably benign	Het
Ttr	A	T	18: 20,803,034 (GRCm39)		probably null	Het
Ubp1	A	G	9: 113,773,999 (GRCm39)	Y66C	probably damaging	Het
Vmn2r102	A	T	17: 19,897,881 (GRCm39)	M299L	probably benign	Het
Vmn2r104	A	T	17: 20,263,166 (GRCm39)	N98K	probably damaging	Het
Yipf5	A	G	18: 40,340,825 (GRCm39)	S176P	probably benign	Het
Zpbp2	C	T	11: 98,444,763 (GRCm39)	T97I	probably damaging	Het

Other mutations in Or4c105

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03221:Or4c105	APN	2	88,647,781 (GRCm39)	missense	possibly damaging	0.54
R0105:Or4c105	UTSW	2	88,648,253 (GRCm39)	missense	probably damaging	1.00
R0699:Or4c105	UTSW	2	88,647,568 (GRCm39)	missense	probably damaging	1.00
R1177:Or4c105	UTSW	2	88,647,704 (GRCm39)	missense	probably benign	0.06
R1436:Or4c105	UTSW	2	88,648,336 (GRCm39)	missense	possibly damaging	0.48
R1827:Or4c105	UTSW	2	88,648,402 (GRCm39)	missense	probably benign	0.04
R1828:Or4c105	UTSW	2	88,648,402 (GRCm39)	missense	probably benign	0.04
R1872:Or4c105	UTSW	2	88,648,280 (GRCm39)	missense	probably benign	0.02
R1878:Or4c105	UTSW	2	88,647,805 (GRCm39)	missense	probably benign	0.00
R4903:Or4c105	UTSW	2	88,648,342 (GRCm39)	missense	probably benign	0.14
R5035:Or4c105	UTSW	2	88,648,443 (GRCm39)	missense	probably benign	0.01
R6279:Or4c105	UTSW	2	88,647,719 (GRCm39)	missense	probably damaging	1.00
R7402:Or4c105	UTSW	2	88,647,687 (GRCm39)	missense	probably damaging	1.00
R7809:Or4c105	UTSW	2	88,647,902 (GRCm39)	missense	probably damaging	0.96
R8172:Or4c105	UTSW	2	88,647,986 (GRCm39)	missense	probably damaging	1.00
R8193:Or4c105	UTSW	2	88,647,803 (GRCm39)	missense	probably damaging	1.00
R8673:Or4c105	UTSW	2	88,647,590 (GRCm39)	missense	probably benign
R8730:Or4c105	UTSW	2	88,648,043 (GRCm39)	missense	possibly damaging	0.64
R9459:Or4c105	UTSW	2	88,647,967 (GRCm39)	missense	probably benign	0.12
R9772:Or4c105	UTSW	2	88,647,958 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCTGTATTGACACCCACATCCTG -3'
(R):5'- CGGTGGTCAGAACCTAACATCCAG -3'

Sequencing Primer
(F):5'- CCTGGGGCTTTTTGTTGC -3'
(R):5'- ctgtctgtctgtctatctgtctg -3'

Posted On

2013-07-30