Mutagenetix > Incidental Mutation

Incidental Mutation 'R7218:Or13p4'

561575

Institutional Source

Beutler Lab

Gene Symbol

Or13p4

Ensembl Gene

ENSMUSG00000043383

Gene Name

olfactory receptor family 13 subfamily P member 4

Synonyms

GA_x6K02T2QD9B-18856980-18857927, MOR258-3, Olfr1342

MMRRC Submission

045290-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R7218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118546349-118550231 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118547215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 145 (I145V)

Ref Sequence

ENSEMBL: ENSMUSP00000149966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060562] [ENSMUST00000216226]

AlphaFold

Q8VFY3

Predicted Effect

probably benign
Transcript: ENSMUST00000060562
AA Change: I145V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000053925
Gene: ENSMUSG00000043383
AA Change: I145V

Domain	Start	End	E-Value	Type
low complexity region	10	24	N/A	INTRINSIC
Pfam:7tm_4	34	311	1.5e-55	PFAM
Pfam:7TM_GPCR_Srsx	38	243	1.6e-5	PFAM
Pfam:7tm_1	44	293	4.2e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216226
AA Change: I145V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (69/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	T	C	17: 46,043,977 (GRCm39)	T94A	unknown	Het
1700025G04Rik	T	C	1: 151,791,259 (GRCm39)	R101G	probably damaging	Het
6430548M08Rik	T	A	8: 120,872,322 (GRCm39)	S83R	probably damaging	Het
Actn2	A	G	13: 12,293,799 (GRCm39)	S574P	probably benign	Het
Ank	A	T	15: 27,544,407 (GRCm39)	Y56F	probably damaging	Het
Ano7	A	G	1: 93,308,191 (GRCm39)	D74G	probably benign	Het
Apaf1	T	A	10: 90,872,864 (GRCm39)	T738S	probably damaging	Het
Apcs	A	T	1: 172,722,231 (GRCm39)	D38E	possibly damaging	Het
Asap1	G	A	15: 64,002,099 (GRCm39)	T404M	probably damaging	Het
Atp8a1	T	A	5: 67,860,324 (GRCm39)	D717V		Het
Baiap2l1	A	G	5: 144,212,687 (GRCm39)	S443P	probably benign	Het
Bmal1	A	T	7: 112,886,390 (GRCm39)	H149L	probably damaging	Het
Brix1	T	C	15: 10,483,378 (GRCm39)		probably null	Het
C1qtnf6	T	C	15: 78,411,574 (GRCm39)	E34G	probably benign	Het
Chil3	A	C	3: 106,067,853 (GRCm39)		probably null	Het
Chmp4c	T	A	3: 10,432,198 (GRCm39)	L36Q	probably damaging	Het
Chrna2	T	A	14: 66,381,320 (GRCm39)		probably null	Het
Clec1a	C	T	6: 129,413,918 (GRCm39)	C57Y	probably damaging	Het
Clec7a	G	T	6: 129,445,885 (GRCm39)	T95K	probably damaging	Het
Csf1r	C	A	18: 61,263,396 (GRCm39)	S926R	probably damaging	Het
Dnajc9	A	G	14: 20,438,507 (GRCm39)	I61T	probably benign	Het
Extl1	T	G	4: 134,087,080 (GRCm39)	S493R	probably benign	Het
Fance	A	G	17: 28,545,148 (GRCm39)	D143G	probably benign	Het
Fcho2	C	T	13: 98,890,121 (GRCm39)		probably null	Het
Filip1	T	C	9: 79,725,356 (GRCm39)	S1088G	probably benign	Het
Gnat1	A	C	9: 107,553,184 (GRCm39)	M319R	possibly damaging	Het
Gpr132	A	T	12: 112,816,049 (GRCm39)	V259E	probably damaging	Het
Gprc5d	T	A	6: 135,093,452 (GRCm39)	M152L	probably benign	Het
Hif3a	C	T	7: 16,784,513 (GRCm39)	R244H	probably damaging	Het
Hivep3	T	C	4: 119,952,649 (GRCm39)	S322P	possibly damaging	Het
Il33	T	A	19: 29,936,325 (GRCm39)	F229I	probably damaging	Het
Il4ra	A	G	7: 125,174,950 (GRCm39)	D386G	probably benign	Het
Ino80	G	T	2: 119,288,608 (GRCm39)	H33N	probably benign	Het
Ip6k1	A	G	9: 107,922,781 (GRCm39)	D228G	unknown	Het
Mamdc2	C	T	19: 23,424,974 (GRCm39)	A40T	probably benign	Het
Meis3	T	C	7: 15,918,626 (GRCm39)	V357A	probably benign	Het
Mycbp2	T	C	14: 103,371,282 (GRCm39)	T4199A	probably benign	Het
Myo7b	A	T	18: 32,114,054 (GRCm39)	M1099K	probably benign	Het
Mzb1	A	T	18: 35,780,975 (GRCm39)	H104Q	probably benign	Het
Nfatc2	A	G	2: 168,413,184 (GRCm39)	L167P	probably benign	Het
Numa1	A	T	7: 101,650,117 (GRCm39)	S1283C	probably benign	Het
Nup98	T	G	7: 101,841,107 (GRCm39)		probably null	Het
Or5p55	T	C	7: 107,566,874 (GRCm39)	L90P	probably benign	Het
Pkhd1l1	A	G	15: 44,386,091 (GRCm39)	T1243A	possibly damaging	Het
Pramel39-ps	C	A	5: 94,451,113 (GRCm39)	V338F	probably benign	Het
Ptpro	C	T	6: 137,431,596 (GRCm39)	R1152W	probably damaging	Het
Ptprt	T	C	2: 161,389,284 (GRCm39)	T1270A	probably damaging	Het
Pwwp2b	A	C	7: 138,836,049 (GRCm39)	T497P	probably damaging	Het
Rab44	T	A	17: 29,358,418 (GRCm39)	V202E		Het
Rbfox1	C	T	16: 7,111,947 (GRCm39)	T191I	probably damaging	Het
Rufy4	A	G	1: 74,172,174 (GRCm39)	K299R	probably damaging	Het
Snip1	T	A	4: 124,966,712 (GRCm39)	S381T	probably damaging	Het
Spen	T	C	4: 141,199,961 (GRCm39)	I2889V	possibly damaging	Het
Spopfm2	A	T	3: 94,082,856 (GRCm39)	H318Q	possibly damaging	Het
St3gal3	T	A	4: 117,814,639 (GRCm39)	D218V		Het
Sun1	A	G	5: 139,212,442 (GRCm39)	T70A	unknown	Het
Tbc1d23	C	T	16: 56,990,745 (GRCm39)	V678M	probably damaging	Het
Tdh	T	A	14: 63,733,206 (GRCm39)	Y195F	probably damaging	Het
Tescl	C	T	7: 24,033,286 (GRCm39)	R13H	possibly damaging	Het
Tfap2c	T	A	2: 172,399,277 (GRCm39)	M508K	probably benign	Het
Trappc4	A	G	9: 44,316,587 (GRCm39)	M136T	probably benign	Het
Tyk2	A	G	9: 21,016,350 (GRCm39)	C1207R	probably damaging	Het
Ugt2b36	T	C	5: 87,229,398 (GRCm39)	Y355C	probably damaging	Het
Vmn1r119	T	A	7: 20,745,572 (GRCm39)	H270L	probably benign	Het
Vmn2r20	G	A	6: 123,363,074 (GRCm39)	P570L	probably damaging	Het
Wnk1	A	C	6: 119,979,234 (GRCm39)	Y284*	probably null	Het
Yars2	C	T	16: 16,121,182 (GRCm39)	A112V	probably damaging	Het
Zer1	T	C	2: 29,995,024 (GRCm39)	N470S	probably damaging	Het
Zfp747l1	A	T	7: 126,983,852 (GRCm39)	S417T	probably benign	Het
Zfp879	A	C	11: 50,723,508 (GRCm39)	V516G	possibly damaging	Het

Other mutations in Or13p4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01823:Or13p4	APN	4	118,546,918 (GRCm39)	missense	probably damaging	1.00
IGL02391:Or13p4	APN	4	118,547,538 (GRCm39)	missense	probably damaging	1.00
R0648:Or13p4	UTSW	4	118,547,269 (GRCm39)	missense	probably benign
R1565:Or13p4	UTSW	4	118,547,389 (GRCm39)	missense	probably damaging	1.00
R1675:Or13p4	UTSW	4	118,547,145 (GRCm39)	missense	probably benign	0.00
R1823:Or13p4	UTSW	4	118,547,389 (GRCm39)	missense	probably damaging	1.00
R2343:Or13p4	UTSW	4	118,547,384 (GRCm39)	missense	probably benign	0.30
R4618:Or13p4	UTSW	4	118,546,667 (GRCm39)	utr 3 prime	probably benign
R4941:Or13p4	UTSW	4	118,547,089 (GRCm39)	missense	possibly damaging	0.76
R5408:Or13p4	UTSW	4	118,547,641 (GRCm39)	missense	probably benign	0.00
R5587:Or13p4	UTSW	4	118,547,067 (GRCm39)	missense	probably damaging	1.00
R5895:Or13p4	UTSW	4	118,547,314 (GRCm39)	missense	probably damaging	0.97
R6023:Or13p4	UTSW	4	118,547,271 (GRCm39)	missense	probably damaging	1.00
R6307:Or13p4	UTSW	4	118,547,145 (GRCm39)	missense	probably benign	0.00
R6324:Or13p4	UTSW	4	118,547,728 (GRCm39)	start gained	probably benign
R6890:Or13p4	UTSW	4	118,546,728 (GRCm39)	missense	possibly damaging	0.72
R7408:Or13p4	UTSW	4	118,546,859 (GRCm39)	missense	probably damaging	0.98
R7555:Or13p4	UTSW	4	118,546,839 (GRCm39)	missense	possibly damaging	0.94
R7749:Or13p4	UTSW	4	118,547,425 (GRCm39)	missense	probably damaging	1.00
R8098:Or13p4	UTSW	4	118,547,406 (GRCm39)	missense	possibly damaging	0.88
R8493:Or13p4	UTSW	4	118,547,229 (GRCm39)	missense	probably benign	0.01
R9445:Or13p4	UTSW	4	118,547,416 (GRCm39)	missense	probably damaging	0.98
R9500:Or13p4	UTSW	4	118,546,930 (GRCm39)	missense	possibly damaging	0.91
Z1176:Or13p4	UTSW	4	118,547,469 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- AAGTCCAAGCGGTCATTGAAG -3'
(R):5'- CTTTGGTAGACATGAGTTACGTCAC -3'

Sequencing Primer
(F):5'- CATTGAAGGATGTGTCTGCAC -3'
(R):5'- ACATGAGTTACGTCACTACCACTGTG -3'

Posted On

2019-06-26