Mutagenetix > Incidental Mutation

Incidental Mutation 'R8989:Or13c7d'

684274

Institutional Source

Beutler Lab

Gene Symbol

Or13c7d

Ensembl Gene

ENSMUSG00000044801

Gene Name

olfactory receptor family 13 subfamily C member 7D

Synonyms

mOR37e, MOR262-5, Olfr37e, GA_x6K02T2N78B-16165641-16166600, Olfr159

MMRRC Submission

068821-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R8989 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43770050-43771009 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43770346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 222 (I222V)

Ref Sequence

ENSEMBL: ENSMUSP00000060784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053931]

AlphaFold

Q9QZ19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053931
AA Change: I222V

PolyPhen 2 Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000060784
Gene: ENSMUSG00000044801
AA Change: I222V

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	315	6.9e-60	PFAM
Pfam:7tm_1	42	297	2.4e-25	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,760,724 (GRCm39)	I1260M	probably benign	Het
A1cf	T	A	19: 31,904,556 (GRCm39)	F273Y	possibly damaging	Het
A3galt2	T	C	4: 128,655,231 (GRCm39)	W45R	probably damaging	Het
Adam23	A	G	1: 63,588,948 (GRCm39)	E460G	probably damaging	Het
Ago1	T	A	4: 126,357,583 (GRCm39)	T31S	probably benign	Het
Ago3	T	A	4: 126,298,191 (GRCm39)	T110S	probably damaging	Het
Akap6	T	C	12: 52,927,654 (GRCm39)	F188S	probably damaging	Het
Asic2	G	A	11: 81,043,180 (GRCm39)	P38S	probably benign	Het
Astn2	A	T	4: 65,499,890 (GRCm39)	C1000S	possibly damaging	Het
Atp10b	T	A	11: 43,136,269 (GRCm39)	C1132*	probably null	Het
Atp7b	A	T	8: 22,510,911 (GRCm39)	S527T	probably benign	Het
Bod1l	G	A	5: 41,979,025 (GRCm39)	T763I	probably benign	Het
Capn11	A	G	17: 45,954,783 (GRCm39)	L118P	probably damaging	Het
Col13a1	T	C	10: 61,696,250 (GRCm39)	E589G	unknown	Het
Col6a2	T	C	10: 76,440,015 (GRCm39)	D630G	probably damaging	Het
Ctnnd2	G	A	15: 30,669,660 (GRCm39)	R423H	probably damaging	Het
Dld	G	A	12: 31,383,458 (GRCm39)	T447I	probably damaging	Het
Eif4g3	T	C	4: 137,912,059 (GRCm39)	L1227S	probably damaging	Het
Elac1	C	A	18: 73,880,310 (GRCm39)	E29*	probably null	Het
Entrep1	T	A	19: 23,962,196 (GRCm39)	Q269L	probably damaging	Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Fancc	G	T	13: 63,548,090 (GRCm39)	L70M	possibly damaging	Het
Fgd6	T	A	10: 93,959,425 (GRCm39)	M1041K	probably damaging	Het
Fn1	A	G	1: 71,663,446 (GRCm39)	V1014A	possibly damaging	Het
Galnt1	C	T	18: 24,402,567 (GRCm39)	T308I	possibly damaging	Het
Garre1	T	C	7: 33,956,869 (GRCm39)	Q332R	probably damaging	Het
Gpr63	T	A	4: 25,007,357 (GRCm39)	V27D	possibly damaging	Het
Hcfc2	T	C	10: 82,536,822 (GRCm39)	V78A	probably damaging	Het
Hexd	T	A	11: 121,109,136 (GRCm39)		probably benign	Het
Hipk1	T	C	3: 103,668,960 (GRCm39)	T479A	possibly damaging	Het
Hkdc1	T	C	10: 62,229,544 (GRCm39)	D711G	probably damaging	Het
Ifna16	A	T	4: 88,594,912 (GRCm39)	F61Y	probably damaging	Het
Insrr	T	A	3: 87,722,664 (GRCm39)	N1295K	probably damaging	Het
Kif5b	T	A	18: 6,209,021 (GRCm39)	R914W	probably damaging	Het
Lpo	T	C	11: 87,708,660 (GRCm39)	T113A	probably benign	Het
Mmp21	T	C	7: 133,276,746 (GRCm39)	D419G	probably damaging	Het
Naf1	A	G	8: 67,313,628 (GRCm39)	T204A	possibly damaging	Het
Nsmce4a	T	C	7: 130,141,587 (GRCm39)	T201A	probably benign	Het
Nup160	T	A	2: 90,548,208 (GRCm39)	N980K	probably damaging	Het
Odad2	T	C	18: 7,268,464 (GRCm39)	K352E	probably benign	Het
Or14j2	A	T	17: 37,885,542 (GRCm39)	F257L	probably benign	Het
Or2d3c	T	A	7: 106,526,366 (GRCm39)	Q100L	probably damaging	Het
Pcdhb19	A	G	18: 37,631,476 (GRCm39)	T424A	probably benign	Het
Pclo	C	T	5: 14,719,325 (GRCm39)	A1154V	unknown	Het
Pramel28	C	A	4: 143,691,770 (GRCm39)	A318S	probably benign	Het
Psma8	T	A	18: 14,890,404 (GRCm39)	D181E	probably benign	Het
Rhpn2	C	A	7: 35,053,446 (GRCm39)		probably benign	Het
Serpinb6e	G	T	13: 34,022,967 (GRCm39)	H139N	possibly damaging	Het
Slc26a7	T	A	4: 14,533,642 (GRCm39)	I394F	probably damaging	Het
Spmip5	T	C	19: 58,776,153 (GRCm39)	E100G	probably damaging	Het
Stxbp5l	ATTTT	ATTTTT	16: 37,036,414 (GRCm39)		probably null	Het
Taok3	T	C	5: 117,379,227 (GRCm39)	S421P	probably benign	Het
Tas2r143	T	G	6: 42,377,828 (GRCm39)	D219E	probably damaging	Het
Tcaf1	G	A	6: 42,663,707 (GRCm39)	R58C	probably damaging	Het
Tenm3	A	T	8: 48,688,383 (GRCm39)	Y2401*	probably null	Het
Tut1	T	C	19: 8,937,116 (GRCm39)	V200A	possibly damaging	Het
Unc5c	T	A	3: 141,509,467 (GRCm39)		probably benign	Het
Vmn2r28	T	G	7: 5,493,473 (GRCm39)	I158L	probably benign	Het
Vmn2r72	T	A	7: 85,404,134 (GRCm39)	H19L	probably benign	Het
Xpo4	A	G	14: 57,828,475 (GRCm39)	M795T	probably benign	Het
Zc3h12a	C	A	4: 125,014,743 (GRCm39)	R247L	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het

Other mutations in Or13c7d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01401:Or13c7d	APN	4	43,770,112 (GRCm39)	missense	probably damaging	1.00
IGL02701:Or13c7d	APN	4	43,770,366 (GRCm39)	missense	probably benign	0.31
IGL02839:Or13c7d	APN	4	43,770,943 (GRCm39)	nonsense	probably null
IGL02956:Or13c7d	APN	4	43,770,399 (GRCm39)	missense	probably benign	0.15
IGL03058:Or13c7d	APN	4	43,770,255 (GRCm39)	missense	probably damaging	1.00
R1164:Or13c7d	UTSW	4	43,770,991 (GRCm39)	missense	probably benign	0.03
R1796:Or13c7d	UTSW	4	43,770,495 (GRCm39)	missense	possibly damaging	0.90
R1812:Or13c7d	UTSW	4	43,770,230 (GRCm39)	nonsense	probably null
R4906:Or13c7d	UTSW	4	43,770,476 (GRCm39)	missense	possibly damaging	0.76
R5426:Or13c7d	UTSW	4	43,770,168 (GRCm39)	missense	probably benign	0.04
R5684:Or13c7d	UTSW	4	43,770,624 (GRCm39)	missense	probably benign	0.03
R6002:Or13c7d	UTSW	4	43,770,063 (GRCm39)	missense	probably benign
R7174:Or13c7d	UTSW	4	43,770,691 (GRCm39)	missense	not run
R7431:Or13c7d	UTSW	4	43,770,882 (GRCm39)	missense	probably damaging	1.00
R8423:Or13c7d	UTSW	4	43,770,598 (GRCm39)	missense	possibly damaging	0.65
R8770:Or13c7d	UTSW	4	43,770,813 (GRCm39)	missense	probably damaging	1.00
R8789:Or13c7d	UTSW	4	43,770,793 (GRCm39)	missense	probably damaging	0.96
R9616:Or13c7d	UTSW	4	43,770,193 (GRCm39)	nonsense	probably null
Z1176:Or13c7d	UTSW	4	43,770,267 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGAGATGAGCTTGTCTGC -3'
(R):5'- CTGGGTATCTGGAAGCATCAC -3'

Sequencing Primer
(F):5'- GCAAGGTCCTGTTTGTCTGCC -3'
(R):5'- GCCACAGTGCAGATATCTTTAGC -3'

Posted On

2021-10-11