Mutagenetix > Incidental Mutation

Incidental Mutation 'R7663:Or4c103'

591687

Institutional Source

Beutler Lab

Gene Symbol

Or4c103

Ensembl Gene

ENSMUSG00000075121

Gene Name

olfactory receptor family 4 subfamily C member 103

Synonyms

GA_x6K02T2Q125-50163514-50162588, MOR230-12_p, Olfr1195, MOR230-4

MMRRC Submission

045738-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R7663 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88513148-88514074 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 88513696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Alanine at position 127 (P127A)

Ref Sequence

ENSEMBL: ENSMUSP00000149442 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081697] [ENSMUST00000099818] [ENSMUST00000213545] [ENSMUST00000213893] [ENSMUST00000216767]

AlphaFold

Q8VG21

Predicted Effect

probably benign
Transcript: ENSMUST00000081697

SMART Domains

Protein: ENSMUSP00000080399
Gene: ENSMUSG00000060827

Domain	Start	End	E-Value	Type
Pfam:7tm_4	36	310	7.5e-51	PFAM
Pfam:7tm_1	46	292	7.3e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000099818
AA Change: P127A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097406
Gene: ENSMUSG00000075121
AA Change: P127A

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	2.5e-47	PFAM
Pfam:7TM_GPCR_Srsx	32	300	1.6e-5	PFAM
Pfam:7tm_1	39	285	5.2e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213545
AA Change: P127A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000213893

Predicted Effect

probably benign
Transcript: ENSMUST00000216767

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (68/69)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,887 (GRCm39)	T359A	probably damaging	Het
Abcd4	A	C	12: 84,652,903 (GRCm39)	V433G	probably damaging	Het
Acot5	C	A	12: 84,116,355 (GRCm39)	R39S	probably damaging	Het
Actl9	T	C	17: 33,652,443 (GRCm39)	S168P	probably damaging	Het
Adam15	A	G	3: 89,253,113 (GRCm39)	L237P	probably damaging	Het
Ahctf1	T	C	1: 179,617,879 (GRCm39)	Q289R	possibly damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Asah1	C	T	8: 41,794,664 (GRCm39)	R385Q	probably damaging	Het
Bicc1	T	C	10: 70,782,420 (GRCm39)	T607A	probably benign	Het
Ccdc88a	T	C	11: 29,448,614 (GRCm39)		probably null	Het
Cdhr4	A	T	9: 107,875,971 (GRCm39)	R750*	probably null	Het
Cep290	T	A	10: 100,390,398 (GRCm39)		probably null	Het
Clca3a1	T	A	3: 144,442,797 (GRCm39)	D749V	probably benign	Het
Clcn1	C	T	6: 42,286,997 (GRCm39)	P685S	possibly damaging	Het
Clk1	A	G	1: 58,460,319 (GRCm39)	S104P	probably damaging	Het
Commd10	T	C	18: 47,219,323 (GRCm39)	V172A	probably benign	Het
Cyp2c69	A	T	19: 39,865,953 (GRCm39)	C213*	probably null	Het
Dnah14	A	T	1: 181,579,720 (GRCm39)		probably null	Het
Dock2	C	T	11: 34,611,854 (GRCm39)	G170R	probably damaging	Het
Fam186a	T	G	15: 99,842,950 (GRCm39)	H1098P	probably benign	Het
Flt1	T	C	5: 147,591,930 (GRCm39)	T511A	probably benign	Het
Fmo1	A	C	1: 162,663,866 (GRCm39)	I221S	possibly damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Ginm1	A	T	10: 7,651,126 (GRCm39)	S93R	possibly damaging	Het
Gm3629	A	C	14: 17,875,685 (GRCm39)		probably null	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gys2	C	T	6: 142,405,211 (GRCm39)	R192H	probably damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Hectd4	C	A	5: 121,462,094 (GRCm39)	A987E	probably benign	Het
Herc2	G	A	7: 55,786,433 (GRCm39)	V1593I	probably benign	Het
Ighv14-3	T	C	12: 114,023,554 (GRCm39)	T88A	probably benign	Het
Jag2	T	C	12: 112,877,286 (GRCm39)	D695G	probably damaging	Het
Kazn	A	T	4: 141,832,209 (GRCm39)	D663E		Het
Krt79	T	C	15: 101,840,278 (GRCm39)	D306G	probably damaging	Het
Lama1	T	A	17: 68,087,875 (GRCm39)	C1498S		Het
Ldb1	T	C	19: 46,023,963 (GRCm39)	Y141C	probably damaging	Het
Lmnb2	T	A	10: 80,740,573 (GRCm39)	E336V	probably damaging	Het
Lrp1b	T	A	2: 42,543,047 (GRCm39)		probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Mycbp2	T	A	14: 103,429,045 (GRCm39)	Y2377F	probably damaging	Het
Neb	T	A	2: 52,120,059 (GRCm39)	Y721F		Het
Ntf3	A	G	6: 126,078,778 (GRCm39)	S243P	probably damaging	Het
Or52s1	T	C	7: 102,861,652 (GRCm39)	M195T	possibly damaging	Het
Or5b121	G	T	19: 13,507,809 (GRCm39)	M301I	probably damaging	Het
Pdk1	G	A	2: 71,705,742 (GRCm39)		probably null	Het
Pdzd2	A	G	15: 12,373,289 (GRCm39)	V2282A	probably damaging	Het
Piwil1	T	C	5: 128,824,497 (GRCm39)	F517L	probably benign	Het
Plch2	T	A	4: 155,075,619 (GRCm39)	T738S	probably damaging	Het
Plekhm3	G	A	1: 64,922,367 (GRCm39)	R603W	probably damaging	Het
Pltp	A	T	2: 164,698,926 (GRCm39)		probably null	Het
Prdm4	A	G	10: 85,735,145 (GRCm39)	S666P	probably damaging	Het
Psmb3	G	T	11: 97,603,318 (GRCm39)	R177L	probably damaging	Het
Ralgapa2	A	G	2: 146,260,335 (GRCm39)	V764A	probably benign	Het
Rel	T	C	11: 23,692,713 (GRCm39)	D440G	probably benign	Het
Rimoc1	T	C	15: 4,018,165 (GRCm39)	Y170C	probably damaging	Het
Rims2	T	A	15: 39,370,422 (GRCm39)	V952E	probably damaging	Het
Samd4b	G	T	7: 28,122,925 (GRCm39)	C44*	probably null	Het
Slamf8	C	A	1: 172,415,605 (GRCm39)	V78F	possibly damaging	Het
Slc35a1	A	T	4: 34,675,493 (GRCm39)	N111K	possibly damaging	Het
Slc7a5	A	T	8: 122,614,274 (GRCm39)	Y264*	probably null	Het
Srsf2	T	C	11: 116,743,120 (GRCm39)	S134G	unknown	Het
Stag1	T	A	9: 100,620,191 (GRCm39)	M98K	probably damaging	Het
Trib1	T	C	15: 59,523,562 (GRCm39)	S199P	probably damaging	Het
Txnip	T	C	3: 96,467,153 (GRCm39)	S276P	possibly damaging	Het
Vmn1r194	C	T	13: 22,428,911 (GRCm39)	T176I	not run	Het
Vmn1r222	A	G	13: 23,416,601 (GRCm39)	L204P	possibly damaging	Het
Vmn2r63	T	A	7: 42,576,466 (GRCm39)	H449L	probably benign	Het
Vmn2r83	T	A	10: 79,314,956 (GRCm39)	N401K	probably damaging	Het
Vmn2r87	T	A	10: 130,308,054 (GRCm39)	H728L	probably damaging	Het
Zfp69	G	A	4: 120,792,323 (GRCm39)	A151V	probably benign	Het
Zfp738	A	G	13: 67,831,520 (GRCm39)		probably null	Het
Zfp974	T	C	7: 27,611,110 (GRCm39)	E205G	possibly damaging	Het

Other mutations in Or4c103

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00907:Or4c103	APN	2	88,513,638 (GRCm39)	missense	probably benign
IGL01396:Or4c103	APN	2	88,513,575 (GRCm39)	missense	probably damaging	0.99
IGL02871:Or4c103	APN	2	88,513,428 (GRCm39)	missense	probably damaging	1.00
IGL03049:Or4c103	APN	2	88,513,834 (GRCm39)	missense	possibly damaging	0.49
R0408:Or4c103	UTSW	2	88,513,999 (GRCm39)	missense	probably benign	0.04
R1562:Or4c103	UTSW	2	88,513,423 (GRCm39)	missense	probably benign	0.01
R5308:Or4c103	UTSW	2	88,513,749 (GRCm39)	missense	probably benign	0.09
R5806:Or4c103	UTSW	2	88,513,495 (GRCm39)	missense	probably damaging	1.00
R6119:Or4c103	UTSW	2	88,513,935 (GRCm39)	missense	probably damaging	0.98
R6178:Or4c103	UTSW	2	88,513,977 (GRCm39)	missense	probably damaging	1.00
R6510:Or4c103	UTSW	2	88,513,302 (GRCm39)	missense	probably benign	0.07
R6919:Or4c103	UTSW	2	88,514,028 (GRCm39)	missense	possibly damaging	0.93
R7205:Or4c103	UTSW	2	88,513,767 (GRCm39)	missense	possibly damaging	0.78
R7253:Or4c103	UTSW	2	88,513,969 (GRCm39)	missense	possibly damaging	0.87
R8011:Or4c103	UTSW	2	88,513,537 (GRCm39)	nonsense	probably null
R8671:Or4c103	UTSW	2	88,513,449 (GRCm39)	missense	probably benign	0.42
R8674:Or4c103	UTSW	2	88,513,774 (GRCm39)	missense	probably benign
R8845:Or4c103	UTSW	2	88,513,735 (GRCm39)	missense	possibly damaging	0.64
R9184:Or4c103	UTSW	2	88,513,519 (GRCm39)	missense	possibly damaging	0.75

Predicted Primers

PCR Primer
(F):5'- CAGGCAAGTTTCAACAGTGG -3'
(R):5'- GGGAGTCCCATGTACTTCTTC -3'

Sequencing Primer
(F):5'- CAAGTTTCAACAGTGGCTGTAAGTC -3'
(R):5'- GTCTGACACCTGCTTCTCAACAAC -3'

Posted On

2019-11-12