Mutagenetix > Incidental Mutation

Incidental Mutation 'R1562:Or1j19'

170652

Institutional Source

Beutler Lab

Gene Symbol

Or1j19

Ensembl Gene

ENSMUSG00000049315

Gene Name

olfactory receptor family 1 subfamily J member 19

Synonyms

GA_x6K02T2NLDC-33481050-33481991, Olfr348, MOR136-8

MMRRC Submission

039601-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R1562 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36676539-36677480 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36676696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 53 (D53G)

Ref Sequence

ENSEMBL: ENSMUSP00000150343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056865] [ENSMUST00000112950] [ENSMUST00000213498] [ENSMUST00000214909] [ENSMUST00000215199] [ENSMUST00000216753] [ENSMUST00000217041]

AlphaFold

Q8VGK3

Predicted Effect

probably damaging
Transcript: ENSMUST00000056865
AA Change: D53G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054037
Gene: ENSMUSG00000049315
AA Change: D53G

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	309	1.3e-56	PFAM
Pfam:7TM_GPCR_Srsx	36	306	3e-6	PFAM
Pfam:7tm_1	42	291	2.7e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112950
AA Change: D53G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108572
Gene: ENSMUSG00000111021
AA Change: D53G

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	36	306	3e-6	PFAM
Pfam:7tm_1	42	291	3.5e-34	PFAM
Pfam:7tm_4	140	284	3.9e-40	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000213498
AA Change: D53G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000214909
AA Change: D53G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215199
AA Change: D53G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000216753

Predicted Effect

probably benign
Transcript: ENSMUST00000217041

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,336,331 (GRCm39)	I2201V	probably benign	Het
Adam22	T	C	5: 8,145,007 (GRCm39)	N817S	probably damaging	Het
Alox12	C	A	11: 70,140,991 (GRCm39)	R348L	probably damaging	Het
Asb17	A	T	3: 153,559,143 (GRCm39)	T285S	probably benign	Het
Casp4	T	C	9: 5,324,733 (GRCm39)	S182P	possibly damaging	Het
Cenpe	T	C	3: 134,944,155 (GRCm39)	M985T	possibly damaging	Het
Clcn1	C	T	6: 42,277,169 (GRCm39)	P420L	probably benign	Het
Coro2a	T	C	4: 46,548,917 (GRCm39)	I126V	probably benign	Het
Cubn	T	C	2: 13,432,778 (GRCm39)	Y1181C	probably damaging	Het
Cyp2d22	A	T	15: 82,258,179 (GRCm39)	L147Q	probably damaging	Het
Dna2	C	T	10: 62,784,966 (GRCm39)	R28W	probably benign	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Fat2	T	C	11: 55,200,800 (GRCm39)	N758S	probably damaging	Het
Fbxo43	T	C	15: 36,163,162 (GRCm39)	D15G	probably damaging	Het
Flt3	T	C	5: 147,281,323 (GRCm39)	E803G	probably damaging	Het
Folr1	T	G	7: 101,507,801 (GRCm39)	D213A	probably damaging	Het
Fus	T	C	7: 127,579,094 (GRCm39)	V359A	probably damaging	Het
Gabrb3	C	T	7: 57,415,262 (GRCm39)	R111*	probably null	Het
Gm17324	T	C	9: 78,355,964 (GRCm39)		probably benign	Het
Hormad2	A	T	11: 4,358,848 (GRCm39)		probably null	Het
Ifi27l2b	T	A	12: 103,422,780 (GRCm39)		probably null	Het
Isg20	G	T	7: 78,569,891 (GRCm39)	C176F	probably benign	Het
Katnip	C	A	7: 125,442,020 (GRCm39)	S643Y	probably damaging	Het
Krt15	C	A	11: 100,024,007 (GRCm39)	V346L	probably benign	Het
Liat1	A	T	11: 75,894,024 (GRCm39)	I134F	probably damaging	Het
Med13l	A	G	5: 118,876,584 (GRCm39)	K920R	probably damaging	Het
Mlh3	A	T	12: 85,313,694 (GRCm39)	F831I	probably benign	Het
Mtmr9	A	G	14: 63,771,786 (GRCm39)	S267P	probably benign	Het
Mybpc1	C	T	10: 88,389,193 (GRCm39)	A406T	probably damaging	Het
Myh1	T	C	11: 67,102,196 (GRCm39)	M829T	probably benign	Het
Myo10	A	G	15: 25,780,497 (GRCm39)	Q209R	possibly damaging	Het
Nceh1	T	A	3: 27,293,701 (GRCm39)	V153D	probably damaging	Het
Oog3	A	T	4: 143,889,169 (GRCm39)	I3N	probably damaging	Het
Or2ag1b	C	T	7: 106,288,187 (GRCm39)	M250I	probably benign	Het
Or4c103	T	A	2: 88,513,423 (GRCm39)	I218F	probably benign	Het
Or8c20	C	A	9: 38,260,658 (GRCm39)	S87*	probably null	Het
Pcnt	G	A	10: 76,203,164 (GRCm39)	T2646M	probably benign	Het
Phf10	A	T	17: 15,166,512 (GRCm39)	C453S	probably damaging	Het
Plcb4	T	A	2: 135,812,367 (GRCm39)		probably null	Het
Plekhh1	A	G	12: 79,123,482 (GRCm39)	H1185R	probably benign	Het
Prmt3	G	T	7: 49,476,602 (GRCm39)	V404L	probably benign	Het
Ptprb	T	A	10: 116,175,372 (GRCm39)	D1122E	probably benign	Het
Rars1	A	G	11: 35,711,921 (GRCm39)		probably null	Het
Rasa2	G	T	9: 96,427,803 (GRCm39)	N687K	possibly damaging	Het
Rbm11	A	G	16: 75,393,423 (GRCm39)	T40A	probably damaging	Het
Rem2	T	C	14: 54,713,775 (GRCm39)	V16A	probably benign	Het
Rlf	A	T	4: 121,007,588 (GRCm39)	M574K	possibly damaging	Het
Rpap3	A	T	15: 97,592,098 (GRCm39)	V186D	possibly damaging	Het
Sertad3	G	A	7: 27,176,048 (GRCm39)	E161K	probably damaging	Het
Sh3gl2	T	C	4: 85,304,130 (GRCm39)	S278P	probably benign	Het
Strn3	T	C	12: 51,680,401 (GRCm39)	T400A	probably benign	Het
Sycp2	A	T	2: 178,024,178 (GRCm39)	I402N	probably damaging	Het
Synj1	C	T	16: 90,784,290 (GRCm39)	V283I	probably benign	Het
Tas2r108	A	G	6: 40,471,000 (GRCm39)		probably null	Het
Ttpal	A	G	2: 163,457,323 (GRCm39)	N265S	probably benign	Het
Unc80	G	A	1: 66,677,116 (GRCm39)	G2015D	probably damaging	Het
Upf1	C	T	8: 70,796,017 (GRCm39)	W138*	probably null	Het
Vmn1r25	T	G	6: 57,955,786 (GRCm39)	M168L	probably benign	Het
Vmn2r18	A	T	5: 151,510,301 (GRCm39)	F24Y	probably benign	Het
Vmn2r4	G	T	3: 64,296,865 (GRCm39)	T640N	probably damaging	Het
Wdr75	T	A	1: 45,843,030 (GRCm39)		probably null	Het
Zdbf2	T	G	1: 63,342,747 (GRCm39)	S375R	possibly damaging	Het
Zfp648	A	G	1: 154,080,138 (GRCm39)	Q99R	probably benign	Het
Zfp964	C	T	8: 70,115,654 (GRCm39)	P85S	probably benign	Het

Other mutations in Or1j19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01388:Or1j19	APN	2	36,677,367 (GRCm39)	missense	probably benign	0.03
IGL01943:Or1j19	APN	2	36,677,095 (GRCm39)	missense	probably benign	0.13
IGL02030:Or1j19	APN	2	36,677,410 (GRCm39)	missense	probably damaging	1.00
IGL02338:Or1j19	APN	2	36,676,557 (GRCm39)	nonsense	probably null
IGL02349:Or1j19	APN	2	36,677,058 (GRCm39)	missense	possibly damaging	0.95
IGL02695:Or1j19	APN	2	36,677,332 (GRCm39)	missense	possibly damaging	0.72
IGL03004:Or1j19	APN	2	36,677,194 (GRCm39)	missense	probably damaging	1.00
IGL03007:Or1j19	APN	2	36,676,812 (GRCm39)	missense	probably damaging	0.99
IGL03024:Or1j19	APN	2	36,676,858 (GRCm39)	missense	possibly damaging	0.55
R0360:Or1j19	UTSW	2	36,677,452 (GRCm39)	missense	probably benign	0.03
R0388:Or1j19	UTSW	2	36,676,874 (GRCm39)	missense	probably benign	0.43
R0614:Or1j19	UTSW	2	36,676,705 (GRCm39)	missense	probably damaging	1.00
R1498:Or1j19	UTSW	2	36,677,358 (GRCm39)	missense	probably damaging	1.00
R2882:Or1j19	UTSW	2	36,677,202 (GRCm39)	missense	probably damaging	1.00
R3731:Or1j19	UTSW	2	36,676,578 (GRCm39)	missense	possibly damaging	0.53
R4513:Or1j19	UTSW	2	36,676,782 (GRCm39)	missense	probably benign	0.05
R4899:Or1j19	UTSW	2	36,676,810 (GRCm39)	missense	probably benign	0.04
R5005:Or1j19	UTSW	2	36,677,370 (GRCm39)	missense	probably benign
R5035:Or1j19	UTSW	2	36,676,903 (GRCm39)	missense	probably damaging	1.00
R5490:Or1j19	UTSW	2	36,677,193 (GRCm39)	missense	probably damaging	1.00
R6361:Or1j19	UTSW	2	36,676,792 (GRCm39)	missense	probably damaging	1.00
R7762:Or1j19	UTSW	2	36,677,022 (GRCm39)	missense	probably benign	0.03
R8109:Or1j19	UTSW	2	36,676,618 (GRCm39)	missense	probably benign	0.00
R8223:Or1j19	UTSW	2	36,677,409 (GRCm39)	missense
R8826:Or1j19	UTSW	2	36,676,855 (GRCm39)	nonsense	probably null
R8906:Or1j19	UTSW	2	36,676,621 (GRCm39)	missense	probably benign	0.01
R9138:Or1j19	UTSW	2	36,676,702 (GRCm39)	missense	probably benign	0.00
R9147:Or1j19	UTSW	2	36,676,938 (GRCm39)	missense	probably benign	0.01
R9148:Or1j19	UTSW	2	36,676,938 (GRCm39)	missense	probably benign	0.01
R9267:Or1j19	UTSW	2	36,676,530 (GRCm39)	unclassified	probably benign
R9306:Or1j19	UTSW	2	36,677,407 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATCTCAAGCAGAAGATGAAGAGCAC -3'
(R):5'- TGCACAAGGGCACCAGCAAATG -3'

Sequencing Primer
(F):5'- CAAGGAACCAGAGCAGTGC -3'
(R):5'- CAGATACTCTGACTCATGATTCTTG -3'

Posted On

2014-04-13