Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01538:Or14c44'

90029

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Or14c44

Ensembl Gene

ENSMUSG00000061549

Gene Name

olfactory receptor family 14 subfamily C member 44

Synonyms

GA_x6K02T2NHDJ-9695951-9695766, Olfr302, Olfr1531-ps1, Olfr301, GA_x6K02T2NHDJ-9693313-9692378, MOR221-4, MOR221-1P, MOR221-1P, MOR211-8P

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL01538

Quality Score

Status

Chromosome

Chromosomal Location

86053057-86062507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86062167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 199 (L199P)

Ref Sequence

ENSEMBL: ENSMUSP00000133780 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000174362]

AlphaFold

Q7TS04

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073222
AA Change: L240P

PolyPhen 2 Score 0.730 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072955
Gene: ENSMUSG00000061549
AA Change: L240P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	70	348	4.7e-46	PFAM
Pfam:7tm_1	80	330	1.5e-21	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174362
AA Change: L199P

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133780
Gene: ENSMUSG00000061549
AA Change: L199P

Domain	Start	End	E-Value	Type
low complexity region	21	38	N/A	INTRINSIC
Pfam:7tm_1	39	289	2e-28	PFAM
Pfam:7tm_4	137	282	1.1e-40	PFAM

Coding Region Coverage

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	A	G	10: 70,708,032 (GRCm39)		noncoding transcript	Het
Abca3	G	T	17: 24,595,447 (GRCm39)	C328F	possibly damaging	Het
Aldh5a1	T	C	13: 25,102,495 (GRCm39)	N323D	possibly damaging	Het
Atp5f1c	T	C	2: 10,073,477 (GRCm39)	Y32C	probably damaging	Het
Capn3	T	G	2: 120,332,667 (GRCm39)		probably null	Het
Ccdc113	C	A	8: 96,277,866 (GRCm39)	D275E	probably benign	Het
Ccdc40	T	A	11: 119,133,545 (GRCm39)	F562I	possibly damaging	Het
Ccn6	A	G	10: 39,034,306 (GRCm39)	Y99H	probably damaging	Het
Cd96	T	C	16: 45,929,490 (GRCm39)	T152A	possibly damaging	Het
Cdh20	T	A	1: 109,988,870 (GRCm39)	D257E	probably damaging	Het
Cilp2	T	C	8: 70,333,854 (GRCm39)	D1048G	probably benign	Het
Clrn2	T	G	5: 45,617,408 (GRCm39)	L93R	probably damaging	Het
Crat	C	A	2: 30,299,978 (GRCm39)	G134V	probably damaging	Het
Dis3	A	T	14: 99,335,181 (GRCm39)	N140K	probably benign	Het
Dmxl2	T	A	9: 54,352,660 (GRCm39)		probably benign	Het
Dus1l	T	A	11: 120,683,905 (GRCm39)	Q181L	probably damaging	Het
Ece1	A	G	4: 137,675,855 (GRCm39)	T410A	probably benign	Het
Gcc1	T	A	6: 28,421,047 (GRCm39)	H90L	probably damaging	Het
Gpr152	T	A	19: 4,192,951 (GRCm39)	V164E	probably damaging	Het
Grik3	A	C	4: 125,587,829 (GRCm39)	I650L	possibly damaging	Het
Gvin3	T	C	7: 106,201,744 (GRCm39)	D500G	probably damaging	Het
Gzmm	A	T	10: 79,530,896 (GRCm39)	T233S	probably benign	Het
H2-Q4	T	A	17: 35,602,288 (GRCm39)	V341D	probably benign	Het
Igsf21	A	G	4: 139,755,029 (GRCm39)		probably benign	Het
Kmt2d	T	C	15: 98,758,538 (GRCm39)		probably benign	Het
Kntc1	T	G	5: 123,919,721 (GRCm39)	V864G	probably damaging	Het
Lnx1	T	C	5: 74,780,816 (GRCm39)	E235G	possibly damaging	Het
Man2b1	G	T	8: 85,824,059 (GRCm39)	K985N	probably benign	Het
Map4k1	C	A	7: 28,701,044 (GRCm39)	P670Q	probably damaging	Het
Mapk8ip1	C	A	2: 92,219,319 (GRCm39)		probably null	Het
Mettl16	T	A	11: 74,683,093 (GRCm39)	Y178*	probably null	Het
Mrpl11	T	A	19: 5,013,449 (GRCm39)		probably null	Het
Nup85	T	C	11: 115,460,540 (GRCm39)	S140P	possibly damaging	Het
Or1j20	T	C	2: 36,760,532 (GRCm39)		probably benign	Het
Or4k51	T	A	2: 111,585,350 (GRCm39)	V252E	probably damaging	Het
Or5w16	T	C	2: 87,576,942 (GRCm39)	V134A	probably benign	Het
Pcdhb2	T	A	18: 37,428,375 (GRCm39)	L116*	probably null	Het
Pdcd7	C	A	9: 65,253,985 (GRCm39)	R188S	probably damaging	Het
Pdk2	T	C	11: 94,918,111 (GRCm39)	Y374C	probably damaging	Het
Ppp1r12a	G	T	10: 108,069,882 (GRCm39)	D224Y	probably damaging	Het
Ppp2r2d	T	A	7: 138,478,364 (GRCm39)	Y169N	probably damaging	Het
Prcp	A	C	7: 92,559,421 (GRCm39)	T162P	probably benign	Het
Prkd1	A	G	12: 50,388,925 (GRCm39)	S873P	probably benign	Het
Ptpn2	T	C	18: 67,814,623 (GRCm39)	T129A	probably benign	Het
Rtkn	G	A	6: 83,123,042 (GRCm39)	R68H	probably damaging	Het
Sall4	C	T	2: 168,597,776 (GRCm39)	D355N	probably damaging	Het
Scn7a	A	G	2: 66,534,196 (GRCm39)	V493A	probably benign	Het
Sema4b	G	A	7: 79,865,444 (GRCm39)	A140T	probably damaging	Het
Shisa6	C	A	11: 66,108,654 (GRCm39)	G408C	possibly damaging	Het
Slc7a9	G	T	7: 35,153,589 (GRCm39)	V197F	probably damaging	Het
Spata2	A	T	2: 167,326,071 (GRCm39)	D249E	probably damaging	Het
Stk36	T	A	1: 74,672,797 (GRCm39)	V1013E	probably benign	Het
Tcp10a	T	C	17: 7,610,899 (GRCm39)	V336A	probably damaging	Het
Tfb2m	A	T	1: 179,365,409 (GRCm39)	V185D	possibly damaging	Het
Tgm7	T	A	2: 120,937,396 (GRCm39)	Y76F	probably benign	Het
Tph1	T	C	7: 46,303,177 (GRCm39)	Y267C	probably damaging	Het
Trgv1	G	A	13: 19,520,740 (GRCm39)		probably benign	Het
Ube2d1	A	G	10: 71,091,656 (GRCm39)		probably benign	Het
Vmn2r12	C	A	5: 109,239,716 (GRCm39)	R282S	probably damaging	Het
Vps4a	A	G	8: 107,763,556 (GRCm39)	D72G	probably benign	Het
Wipf2	T	A	11: 98,781,629 (GRCm39)	V56D	possibly damaging	Het
Zfp750	C	A	11: 121,402,991 (GRCm39)	V586L	probably benign	Het
Zfp831	A	G	2: 174,486,399 (GRCm39)	E358G	possibly damaging	Het

Other mutations in Or14c44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01015:Or14c44	APN	7	86,061,998 (GRCm39)	missense	probably damaging	1.00
IGL01459:Or14c44	APN	7	86,061,759 (GRCm39)	missense	probably damaging	1.00
IGL01547:Or14c44	APN	7	86,062,079 (GRCm39)	missense	possibly damaging	0.94
R0918:Or14c44	UTSW	7	86,062,403 (GRCm39)	missense	probably benign	0.01
R1559:Or14c44	UTSW	7	86,061,575 (GRCm39)	missense	probably benign	0.00
R1651:Or14c44	UTSW	7	86,057,078 (GRCm39)	utr 5 prime	probably benign
R2411:Or14c44	UTSW	7	86,062,290 (GRCm39)	missense	possibly damaging	0.51
R3732:Or14c44	UTSW	7	86,061,841 (GRCm39)	missense	probably damaging	0.98
R3832:Or14c44	UTSW	7	86,062,401 (GRCm39)	missense	probably damaging	1.00
R5175:Or14c44	UTSW	7	86,062,254 (GRCm39)	missense	probably benign	0.00
R5372:Or14c44	UTSW	7	86,062,176 (GRCm39)	missense	possibly damaging	0.66
R5413:Or14c44	UTSW	7	86,061,675 (GRCm39)	missense	probably benign
R5520:Or14c44	UTSW	7	86,062,064 (GRCm39)	missense	probably benign	0.02
R5579:Or14c44	UTSW	7	86,061,934 (GRCm39)	nonsense	probably null
R6037:Or14c44	UTSW	7	86,062,478 (GRCm39)	missense	probably benign	0.02
R6037:Or14c44	UTSW	7	86,062,478 (GRCm39)	missense	probably benign	0.02
R7251:Or14c44	UTSW	7	86,062,209 (GRCm39)	missense	probably benign
R7340:Or14c44	UTSW	7	86,061,957 (GRCm39)	missense	possibly damaging	0.92
R7860:Or14c44	UTSW	7	86,057,119 (GRCm39)	start gained	probably benign
R8305:Or14c44	UTSW	7	86,061,987 (GRCm39)	missense	probably damaging	1.00
R8338:Or14c44	UTSW	7	86,061,702 (GRCm39)	missense	probably benign	0.14
R8487:Or14c44	UTSW	7	86,061,647 (GRCm39)	missense	probably benign	0.34
R8799:Or14c44	UTSW	7	86,061,854 (GRCm39)	missense	probably damaging	1.00
R9342:Or14c44	UTSW	7	86,062,430 (GRCm39)	missense	probably benign	0.37
Z1176:Or14c44	UTSW	7	86,061,906 (GRCm39)	missense	probably benign	0.16

Posted On

2013-12-03