Mutagenetix > Incidental Mutation

Incidental Mutation 'R7951:Or4c100'

649540

Institutional Source

Beutler Lab

Gene Symbol

Or4c100

Ensembl Gene

ENSMUSG00000082882

Gene Name

olfactory receptor family 4 subfamily C member 100

Synonyms

GA_x6K02T2Q125-50012960-50013871, Olfr1186, MOR230-5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7951 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88355845-88356934 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88356148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 74 (T74S)

Ref Sequence

ENSEMBL: ENSMUSP00000151114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121619] [ENSMUST00000215912] [ENSMUST00000216978]

AlphaFold

Q7TR16

Predicted Effect

probably damaging
Transcript: ENSMUST00000121619
AA Change: T74S

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215912
AA Change: T74S

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216978
AA Change: T74S

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	G	A	17: 85,004,957 (GRCm39)	G575S	probably damaging	Het
Acacb	G	T	5: 114,326,401 (GRCm39)	A256S	probably damaging	Het
Adamts20	T	C	15: 94,238,947 (GRCm39)	D757G	probably damaging	Het
Adgra3	A	G	5: 50,121,126 (GRCm39)	V834A	probably damaging	Het
Adgrv1	A	G	13: 81,711,689 (GRCm39)	S1096P	probably damaging	Het
Bmal2	T	G	6: 146,714,732 (GRCm39)	L135R	probably damaging	Het
Cct4	T	C	11: 22,940,868 (GRCm39)	S39P	probably benign	Het
Cep97	T	C	16: 55,725,820 (GRCm39)	N689S	probably benign	Het
Col11a1	T	A	3: 113,888,864 (GRCm39)	D302E	unknown	Het
D5Ertd579e	C	T	5: 36,772,517 (GRCm39)	S626N	probably benign	Het
Dido1	A	T	2: 180,312,674 (GRCm39)	C1074S	probably benign	Het
Dnah17	C	T	11: 118,009,592 (GRCm39)	R660H	possibly damaging	Het
Dnhd1	A	T	7: 105,327,211 (GRCm39)	D720V	probably damaging	Het
Dst	T	C	1: 34,240,267 (GRCm39)	M1872T	probably benign	Het
Enpp2	T	C	15: 54,783,089 (GRCm39)	I13M	probably benign	Het
Fcho1	A	G	8: 72,164,920 (GRCm39)	F454L	probably benign	Het
Gad2	A	G	2: 22,513,499 (GRCm39)	K43R	probably damaging	Het
Galnt3	C	T	2: 65,928,186 (GRCm39)	E237K	probably benign	Het
Hey1	A	G	3: 8,729,932 (GRCm39)	L175P	possibly damaging	Het
Jade1	G	A	3: 41,546,190 (GRCm39)	V72M	probably damaging	Het
Klhl28	G	A	12: 65,003,875 (GRCm39)	R213W	probably damaging	Het
Kprp	C	T	3: 92,731,637 (GRCm39)	R471H	unknown	Het
Lmtk3	A	T	7: 45,435,030 (GRCm39)	M27L	probably benign	Het
Lrp1	A	T	10: 127,374,933 (GRCm39)	Y4508*	probably null	Het
Lypd5	T	C	7: 24,051,060 (GRCm39)	V57A	probably damaging	Het
Mapk9	T	G	11: 49,754,422 (GRCm39)	S58R	probably damaging	Het
Mycbp2	T	C	14: 103,452,898 (GRCm39)	K1661R	probably damaging	Het
Myl2	C	T	5: 122,244,750 (GRCm39)	A140V	probably benign	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nckap1l	T	C	15: 103,381,542 (GRCm39)	Y428H	probably damaging	Het
Nt5c1a	T	C	4: 123,105,978 (GRCm39)	F144S	probably benign	Het
Ofcc1	C	T	13: 40,433,781 (GRCm39)	R108Q	probably benign	Het
Or5d14	A	T	2: 87,880,601 (GRCm39)	Y122*	probably null	Het
Or5d40	G	T	2: 88,015,616 (GRCm39)	V132F	probably damaging	Het
Pabpc4	T	G	4: 123,177,532 (GRCm39)	V42G	probably damaging	Het
Prrc2a	A	T	17: 35,379,477 (GRCm39)	N311K	unknown	Het
Rcbtb2	A	T	14: 73,403,992 (GRCm39)	R197*	probably null	Het
Rfc4	A	G	16: 22,934,135 (GRCm39)	I222T	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,119 (GRCm39)		probably benign	Het
Rufy1	T	C	11: 50,321,736 (GRCm39)	D66G	probably benign	Het
Rxfp1	A	T	3: 79,559,682 (GRCm39)	C380S	probably damaging	Het
Scn5a	A	G	9: 119,358,145 (GRCm39)	C699R	probably damaging	Het
Syngap1	G	T	17: 27,185,942 (GRCm39)	A1291S	possibly damaging	Het
Tab1	C	A	15: 80,043,058 (GRCm39)	N417K	probably damaging	Het
Tenm3	A	G	8: 48,763,738 (GRCm39)	V772A	possibly damaging	Het
Tmem25	T	A	9: 44,706,790 (GRCm39)	K285I	probably damaging	Het
Tnks2	A	G	19: 36,839,555 (GRCm39)	N51D		Het
Trpm7	G	A	2: 126,655,188 (GRCm39)	T1250I	possibly damaging	Het
Trpv4	T	C	5: 114,760,871 (GRCm39)	D820G	probably benign	Het
Tsg101	T	A	7: 46,540,891 (GRCm39)	I289L	probably benign	Het
Tubgcp2	C	A	7: 139,587,893 (GRCm39)	R244L	possibly damaging	Het
Vmn1r173	C	A	7: 23,402,680 (GRCm39)	T305K	unknown	Het
Vmn1r53	A	T	6: 90,201,132 (GRCm39)	I64K	possibly damaging	Het
Zfp444	T	C	7: 6,191,185 (GRCm39)	V122A	probably benign	Het
Zfp599	A	G	9: 22,160,764 (GRCm39)	L467P	probably damaging	Het
Zic1	T	C	9: 91,244,654 (GRCm39)	E335G	probably damaging	Het

Other mutations in Or4c100

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01311:Or4c100	APN	2	88,356,104 (GRCm39)	missense	possibly damaging	0.87
IGL01727:Or4c100	APN	2	88,356,271 (GRCm39)	missense	probably benign	0.03
IGL01790:Or4c100	APN	2	88,356,767 (GRCm39)	missense	probably damaging	0.99
IGL01868:Or4c100	APN	2	88,356,059 (GRCm39)	missense	possibly damaging	0.66
IGL03146:Or4c100	APN	2	88,356,488 (GRCm39)	missense	possibly damaging	0.90
IGL03378:Or4c100	APN	2	88,356,498 (GRCm39)	nonsense	probably null
R0053:Or4c100	UTSW	2	88,356,507 (GRCm39)	missense	probably damaging	1.00
R0829:Or4c100	UTSW	2	88,356,572 (GRCm39)	missense	probably damaging	1.00
R1210:Or4c100	UTSW	2	88,356,620 (GRCm39)	missense	possibly damaging	0.89
R1754:Or4c100	UTSW	2	88,356,159 (GRCm39)	missense	probably damaging	0.99
R2260:Or4c100	UTSW	2	88,356,730 (GRCm39)	missense	possibly damaging	0.93
R3426:Or4c100	UTSW	2	88,356,208 (GRCm39)	missense	probably damaging	1.00
R3781:Or4c100	UTSW	2	88,356,709 (GRCm39)	missense	probably benign	0.23
R4737:Or4c100	UTSW	2	88,356,569 (GRCm39)	missense	probably damaging	1.00
R4908:Or4c100	UTSW	2	88,356,254 (GRCm39)	missense	probably damaging	1.00
R4932:Or4c100	UTSW	2	88,356,079 (GRCm39)	missense	probably benign	0.02
R5071:Or4c100	UTSW	2	88,356,385 (GRCm39)	missense	probably damaging	1.00
R5831:Or4c100	UTSW	2	88,356,824 (GRCm39)	nonsense	probably null
R6222:Or4c100	UTSW	2	88,329,614 (GRCm39)	missense	probably benign	0.34
R6370:Or4c100	UTSW	2	88,329,712 (GRCm39)	nonsense	probably null
R6802:Or4c100	UTSW	2	88,355,941 (GRCm39)	missense	probably benign	0.02
R6931:Or4c100	UTSW	2	88,356,538 (GRCm39)	missense	possibly damaging	0.50
R7044:Or4c100	UTSW	2	88,356,830 (GRCm39)	missense	probably benign
R7121:Or4c100	UTSW	2	88,356,170 (GRCm39)	missense	probably damaging	1.00
R7166:Or4c100	UTSW	2	88,355,990 (GRCm39)	missense	possibly damaging	0.89
R7387:Or4c100	UTSW	2	88,356,744 (GRCm39)	nonsense	probably null
R7891:Or4c100	UTSW	2	88,356,289 (GRCm39)	missense	probably benign	0.04
R7978:Or4c100	UTSW	2	88,356,014 (GRCm39)	nonsense	probably null
R8016:Or4c100	UTSW	2	88,356,517 (GRCm39)	missense	probably damaging	0.99
R8039:Or4c100	UTSW	2	88,356,215 (GRCm39)	missense	probably benign	0.07
R8389:Or4c100	UTSW	2	88,355,931 (GRCm39)	start codon destroyed	probably null
R9211:Or4c100	UTSW	2	88,356,170 (GRCm39)	missense	probably benign	0.08
R9279:Or4c100	UTSW	2	88,356,211 (GRCm39)	missense	probably benign	0.01
R9691:Or4c100	UTSW	2	88,356,421 (GRCm39)	missense	probably benign	0.39
R9782:Or4c100	UTSW	2	88,356,835 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGTTGACACAGGATCCAGAAC -3'
(R):5'- GTGAATACACGACCCTATCCAG -3'

Sequencing Primer
(F):5'- TCCAGAACAACAGAAGGCAATATTTG -3'
(R):5'- TACACCACAGATATGTTGGCTC -3'

Posted On

2020-09-15