Mutagenetix > Incidental Mutation

Incidental Mutation 'R8688:Or4k40'

668226

Institutional Source

Beutler Lab

Gene Symbol

Or4k40

Ensembl Gene

ENSMUSG00000096703

Gene Name

olfactory receptor family 4 subfamily K member 40

Synonyms

MOR248-21, Olfr1286, GA_x6K02T2Q125-72472405-72471488

MMRRC Submission

068543-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8688 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

111250377-111251294 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 111250958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 113 (V113I)

Ref Sequence

ENSEMBL: ENSMUSP00000144852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099617] [ENSMUST00000184954] [ENSMUST00000213210]

AlphaFold

Q7TQY2

Predicted Effect

probably benign
Transcript: ENSMUST00000099617
AA Change: V113I

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000097212
Gene: ENSMUSG00000096703
AA Change: V113I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	31	305	3.4e-47	PFAM
Pfam:7TM_GPCR_Srsx	35	301	3.4e-7	PFAM
Pfam:7tm_1	41	287	1.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184954
AA Change: V113I

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000144852
Gene: ENSMUSG00000096703
AA Change: V113I

Domain	Start	End	E-Value	Type
Pfam:7tm_4	1	264	7.6e-38	PFAM
Pfam:7tm_1	5	251	7.2e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213210
AA Change: V113I

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (55/55)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	T	5: 144,982,183 (GRCm39)	T256I	probably damaging	Het
2700097O09Rik	C	T	12: 55,104,136 (GRCm39)	G161D	probably damaging	Het
Acvr1	G	A	2: 58,352,961 (GRCm39)	A333V	probably damaging	Het
Adamtsl1	A	C	4: 86,166,263 (GRCm39)	S209R		Het
Akr1c18	T	C	13: 4,187,194 (GRCm39)	K207E	possibly damaging	Het
Anapc1	T	G	2: 128,527,748 (GRCm39)	Q70P	probably benign	Het
Arhgef33	A	G	17: 80,680,615 (GRCm39)	E585G	probably damaging	Het
Baz1b	T	G	5: 135,271,343 (GRCm39)	S1309A	probably benign	Het
Bdp1	T	C	13: 100,240,307 (GRCm39)	R14G	probably damaging	Het
Bltp1	T	A	3: 37,090,066 (GRCm39)	Y745N		Het
Ccdc150	A	C	1: 54,407,132 (GRCm39)	Q1058H	probably damaging	Het
Cdk5rap2	A	G	4: 70,298,510 (GRCm39)	F74S	probably damaging	Het
CK137956	C	T	4: 127,844,739 (GRCm39)	E335K	possibly damaging	Het
Cyp2c66	A	T	19: 39,151,884 (GRCm39)	I200F	probably benign	Het
Dmbt1	T	A	7: 130,659,984 (GRCm39)	W412R	unknown	Het
Dsel	A	T	1: 111,790,468 (GRCm39)	C22*	probably null	Het
Ep400	A	G	5: 110,868,685 (GRCm39)	M949T	unknown	Het
Gcc1	A	T	6: 28,418,739 (GRCm39)	Y531*	probably null	Het
Gm10277	T	C	11: 77,676,405 (GRCm39)	R189G	unknown	Het
Gm17078	T	A	14: 51,848,687 (GRCm39)	R17*	probably null	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Grip1	A	G	10: 119,835,809 (GRCm39)	I502V	probably benign	Het
H2-M9	A	T	17: 36,953,034 (GRCm39)	V91D	probably damaging	Het
Hcls1	T	C	16: 36,781,821 (GRCm39)	L310P	probably benign	Het
Hsd17b11	T	A	5: 104,169,584 (GRCm39)	I8F	probably benign	Het
Iftap	T	C	2: 101,440,916 (GRCm39)	E29G	probably damaging	Het
Ildr2	A	T	1: 166,097,102 (GRCm39)	D107V	probably damaging	Het
Ivl	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	3: 92,479,608 (GRCm39)		probably benign	Het
Josd2	T	C	7: 44,120,640 (GRCm39)	W126R	probably damaging	Het
Ltbp2	T	A	12: 84,850,578 (GRCm39)	D912V	probably benign	Het
Mdc1	A	G	17: 36,161,383 (GRCm39)	I765M	probably benign	Het
Mroh1	A	G	15: 76,312,550 (GRCm39)	E579G	probably benign	Het
Nmur2	T	C	11: 55,931,654 (GRCm39)	N19S	probably damaging	Het
Obscn	T	C	11: 58,946,909 (GRCm39)	Y4075C	probably damaging	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or8b51	T	A	9: 38,569,047 (GRCm39)	I214L	probably benign	Het
Orm1	G	A	4: 63,264,578 (GRCm39)	V167M	probably damaging	Het
Phf14	A	G	6: 11,990,034 (GRCm39)	N688D	probably damaging	Het
Phlpp2	A	G	8: 110,631,012 (GRCm39)	K219E	probably damaging	Het
Prdm2	T	C	4: 142,838,310 (GRCm39)	T1683A	probably benign	Het
Ptprh	T	A	7: 4,554,022 (GRCm39)	Q815L	probably benign	Het
Rag1	A	T	2: 101,472,968 (GRCm39)	Y725N	probably damaging	Het
Rp1	T	A	1: 4,416,628 (GRCm39)	I1495F	probably benign	Het
Scn3a	A	G	2: 65,356,047 (GRCm39)	V229A	possibly damaging	Het
Siglech	A	G	7: 55,418,362 (GRCm39)	D110G	probably benign	Het
St8sia2	A	T	7: 73,593,092 (GRCm39)	D321E	probably damaging	Het
Stxbp3	A	G	3: 108,709,425 (GRCm39)		probably benign	Het
Tbccd1	A	T	16: 22,641,208 (GRCm39)	S390T	possibly damaging	Het
Tg	T	A	15: 66,566,802 (GRCm39)		probably benign	Het
Trio	T	A	15: 27,748,324 (GRCm39)	N2443Y	possibly damaging	Het
Ube2s	C	T	7: 4,813,577 (GRCm39)	M62I	probably benign	Het
Ugt2b37	T	C	5: 87,390,240 (GRCm39)	D402G	possibly damaging	Het
Vmn2r80	A	G	10: 79,004,069 (GRCm39)	N94S	probably damaging	Het
Wapl	T	A	14: 34,414,549 (GRCm39)	S470R	possibly damaging	Het
Xrra1	A	G	7: 99,555,752 (GRCm39)	E373G	probably damaging	Het
Zfp335	A	G	2: 164,734,113 (GRCm39)	Y1329H	probably damaging	Het
Zfp689	C	A	7: 127,044,084 (GRCm39)	C182F	probably benign	Het
Zfp933	T	A	4: 147,911,249 (GRCm39)	S116C	probably benign	Het

Other mutations in Or4k40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01596:Or4k40	APN	2	111,251,237 (GRCm39)	missense	probably benign	0.04
IGL01953:Or4k40	APN	2	111,250,657 (GRCm39)	missense	probably benign	0.22
IGL02251:Or4k40	APN	2	111,250,657 (GRCm39)	missense	probably damaging	0.99
IGL02514:Or4k40	APN	2	111,251,117 (GRCm39)	missense	probably damaging	1.00
IGL02868:Or4k40	APN	2	111,250,838 (GRCm39)	missense	possibly damaging	0.55
PIT4403001:Or4k40	UTSW	2	111,251,165 (GRCm39)	missense	probably benign	0.00
R0630:Or4k40	UTSW	2	111,251,191 (GRCm39)	missense	probably damaging	1.00
R1442:Or4k40	UTSW	2	111,250,438 (GRCm39)	missense	probably damaging	1.00
R1712:Or4k40	UTSW	2	111,251,003 (GRCm39)	missense	probably benign	0.22
R2510:Or4k40	UTSW	2	111,250,796 (GRCm39)	missense	possibly damaging	0.74
R4399:Or4k40	UTSW	2	111,251,144 (GRCm39)	missense	probably benign	0.00
R4984:Or4k40	UTSW	2	111,251,192 (GRCm39)	missense	probably damaging	1.00
R5186:Or4k40	UTSW	2	111,251,119 (GRCm39)	missense	probably damaging	1.00
R6044:Or4k40	UTSW	2	111,250,423 (GRCm39)	missense	probably damaging	1.00
R6107:Or4k40	UTSW	2	111,251,000 (GRCm39)	missense	probably benign	0.01
R6372:Or4k40	UTSW	2	111,251,147 (GRCm39)	missense	probably benign	0.12
R7230:Or4k40	UTSW	2	111,251,261 (GRCm39)	missense	probably damaging	1.00
R8464:Or4k40	UTSW	2	111,251,192 (GRCm39)	missense	probably damaging	1.00
R8481:Or4k40	UTSW	2	111,250,994 (GRCm39)	missense	possibly damaging	0.95
R9072:Or4k40	UTSW	2	111,250,705 (GRCm39)	missense	possibly damaging	0.88
R9073:Or4k40	UTSW	2	111,250,705 (GRCm39)	missense	possibly damaging	0.88
R9479:Or4k40	UTSW	2	111,251,013 (GRCm39)	missense	probably damaging	1.00
R9629:Or4k40	UTSW	2	111,251,137 (GRCm39)	missense	probably benign
R9682:Or4k40	UTSW	2	111,250,737 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- TCTAGGTCCACAGAAAGGTAGATCC -3'
(R):5'- CTACCTGATGGCTGTGGTAG -3'

Sequencing Primer
(F):5'- GTAGATCCAAAATCAAGAGCATCTG -3'
(R):5'- CAACCTGTTTGTTGTGATATTGATC -3'

Posted On

2021-04-30