Mutagenetix > Incidental Mutation

Incidental Mutation 'R0617:Or51i1'

58430

Institutional Source

Beutler Lab

Gene Symbol

Or51i1

Ensembl Gene

ENSMUSG00000066262

Gene Name

olfactory receptor family 51 subfamily I member 1D

Synonyms

GA_x6K02T2PBJ9-6756759-6755815, MOR13-4, Olfr640

MMRRC Submission

038806-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R0617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103670579-103671523 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103671196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 110 (S110T)

Ref Sequence

ENSEMBL: ENSMUSP00000151356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084799] [ENSMUST00000138055] [ENSMUST00000215653] [ENSMUST00000218535]

AlphaFold

E9Q7P5

Predicted Effect

probably damaging
Transcript: ENSMUST00000084799
AA Change: S110T

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

SMART Domains

Protein: ENSMUSP00000081858
Gene: ENSMUSG00000066262
AA Change: S110T

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	3.7e-120	PFAM
Pfam:7TM_GPCR_Srsx	37	309	1.9e-8	PFAM
Pfam:7tm_1	43	294	2.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138055

SMART Domains

Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000215653

Predicted Effect

probably damaging
Transcript: ENSMUST00000218535
AA Change: S110T

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

Meta Mutation Damage Score

0.3302

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

98% (130/133)

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: 130 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930555F03Rik	A	T	8: 49,953,527 (GRCm39)		noncoding transcript	Het
A630073D07Rik	T	C	6: 132,603,700 (GRCm39)		probably benign	Het
Abca16	G	A	7: 120,032,834 (GRCm39)		probably benign	Het
Abca5	A	T	11: 110,170,515 (GRCm39)	D1265E	probably damaging	Het
Abcf1	C	T	17: 36,272,079 (GRCm39)	V312I	probably benign	Het
Abhd12	T	A	2: 150,688,285 (GRCm39)		probably null	Het
Adam23	A	G	1: 63,582,306 (GRCm39)	H318R	probably benign	Het
Adcy2	T	A	13: 68,826,725 (GRCm39)	K660*	probably null	Het
Adgrf3	T	C	5: 30,400,078 (GRCm39)	T972A	probably benign	Het
Adipoq	T	A	16: 22,974,160 (GRCm39)	D62E	probably damaging	Het
Alk	G	T	17: 72,910,578 (GRCm39)	P43T	probably damaging	Het
Arap2	AT	ATT	5: 62,807,250 (GRCm39)		probably benign	Het
Arhgef28	G	T	13: 98,106,863 (GRCm39)	T687K	probably benign	Het
Arrb1	T	C	7: 99,243,884 (GRCm39)	L278P	probably damaging	Het
Atad2b	C	A	12: 4,987,401 (GRCm39)	D76E	probably benign	Het
Atm	A	T	9: 53,370,241 (GRCm39)	Y2290*	probably null	Het
Atrn	T	A	2: 130,837,005 (GRCm39)		probably null	Het
Bpifb1	A	G	2: 154,054,867 (GRCm39)	D253G	possibly damaging	Het
Bpifb9b	C	T	2: 154,161,545 (GRCm39)	T559M	probably benign	Het
Bsn	T	C	9: 107,984,439 (GRCm39)	E3205G	unknown	Het
Cacna1c	T	C	6: 118,579,174 (GRCm39)	Y1599C	probably damaging	Het
Ccdc40	A	G	11: 119,133,630 (GRCm39)	D590G	probably damaging	Het
Ccdc68	A	G	18: 70,079,623 (GRCm39)		probably null	Het
Ccdc97	G	A	7: 25,413,845 (GRCm39)	R279C	probably damaging	Het
Ccm2l	A	G	2: 152,912,820 (GRCm39)	T120A	probably damaging	Het
Cfap54	T	C	10: 92,665,512 (GRCm39)		probably benign	Het
Cfh	A	G	1: 140,028,621 (GRCm39)	S1043P	probably benign	Het
Chil3	T	C	3: 106,063,072 (GRCm39)	K173E	probably benign	Het
Cib2	T	C	9: 54,461,780 (GRCm39)	D26G	possibly damaging	Het
Col24a1	T	C	3: 145,019,881 (GRCm39)	V84A	probably damaging	Het
Csn3	T	C	5: 88,077,730 (GRCm39)	Y79H	probably benign	Het
Ddx47	T	A	6: 134,994,085 (GRCm39)	V149E	probably damaging	Het
Dennd5b	A	T	6: 148,934,760 (GRCm39)		probably benign	Het
Desi1	T	C	15: 81,882,399 (GRCm39)	N109D	probably damaging	Het
Fam13c	T	C	10: 70,372,182 (GRCm39)		probably benign	Het
Fam234a	A	T	17: 26,435,591 (GRCm39)	D264E	probably benign	Het
Fanca	A	G	8: 124,014,809 (GRCm39)	F831S	probably damaging	Het
Fancm	C	T	12: 65,144,091 (GRCm39)	R518*	probably null	Het
Fat2	A	G	11: 55,202,669 (GRCm39)	V135A	possibly damaging	Het
Fbxl17	A	C	17: 63,691,987 (GRCm39)	F42V	probably damaging	Het
Fgd3	A	T	13: 49,418,173 (GRCm39)	V631E	possibly damaging	Het
Fhod3	G	A	18: 25,245,736 (GRCm39)		probably benign	Het
Focad	T	C	4: 88,039,525 (GRCm39)		probably benign	Het
Foxn4	C	A	5: 114,399,129 (GRCm39)		probably benign	Het
Gm2381	A	T	7: 42,469,402 (GRCm39)	C241S	probably damaging	Het
Gm6483	T	G	8: 19,743,725 (GRCm39)	F117V	probably damaging	Het
Hectd4	T	C	5: 121,481,295 (GRCm39)		probably benign	Het
Hecw1	T	A	13: 14,455,027 (GRCm39)	Q676L	probably benign	Het
Hipk2	G	A	6: 38,724,420 (GRCm39)	R437C	possibly damaging	Het
Ifnar1	T	C	16: 91,298,570 (GRCm39)	Y396H	probably damaging	Het
Ints5	A	T	19: 8,873,383 (GRCm39)	K447N	probably damaging	Het
Iqsec1	T	C	6: 90,666,952 (GRCm39)	Y495C	probably damaging	Het
Itga5	C	T	15: 103,264,742 (GRCm39)		probably null	Het
Kcnk4	T	A	19: 6,905,528 (GRCm39)		probably benign	Het
Kmo	A	G	1: 175,474,756 (GRCm39)	T174A	possibly damaging	Het
Krt36	T	C	11: 99,993,101 (GRCm39)	D458G	probably damaging	Het
Krtap16-1	G	T	11: 99,877,321 (GRCm39)	P28T	probably damaging	Het
Lama3	T	C	18: 12,552,315 (GRCm39)		probably null	Het
Lrrc9	T	C	12: 72,529,788 (GRCm39)	S920P	probably damaging	Het
Lrrk2	A	T	15: 91,636,481 (GRCm39)	Y1485F	probably benign	Het
Mical1	C	T	10: 41,357,311 (GRCm39)	A372V	probably damaging	Het
Ms4a20	C	A	19: 11,089,764 (GRCm39)	L40F	probably damaging	Het
Mtr	C	T	13: 12,236,318 (GRCm39)	R636Q	probably benign	Het
Muc4	A	T	16: 32,570,925 (GRCm39)	T662S	possibly damaging	Het
Myo10	G	A	15: 25,738,091 (GRCm39)	V546M	probably damaging	Het
Nbeal1	G	A	1: 60,320,991 (GRCm39)	W2034*	probably null	Het
Nhlrc3	T	C	3: 53,366,044 (GRCm39)	T150A	probably damaging	Het
Nicol1	T	C	5: 34,140,896 (GRCm39)		probably benign	Het
Nkx2-1	T	C	12: 56,581,640 (GRCm39)	H69R	possibly damaging	Het
Nlrp4g	A	T	9: 124,349,540 (GRCm38)		noncoding transcript	Het
Nod2	A	G	8: 89,379,859 (GRCm39)	N120S	probably benign	Het
Nol8	T	C	13: 49,807,921 (GRCm39)	F46L	possibly damaging	Het
Ntrk1	T	C	3: 87,691,240 (GRCm39)	D308G	possibly damaging	Het
Oog3	A	T	4: 143,886,784 (GRCm39)	V112D	probably benign	Het
Or10ag58	A	G	2: 87,265,005 (GRCm39)	D58G	probably damaging	Het
Or4a66	A	G	2: 88,531,040 (GRCm39)	V211A	probably damaging	Het
Or5af2	T	C	11: 58,707,975 (GRCm39)	V47A	probably damaging	Het
Or5b106	T	C	19: 13,123,727 (GRCm39)	M99V	probably benign	Het
Or5b120	C	A	19: 13,479,900 (GRCm39)	N64K	probably damaging	Het
Or5m9b	A	G	2: 85,905,485 (GRCm39)	M134V	probably benign	Het
Or9s18	A	T	13: 65,300,692 (GRCm39)	Y218F	possibly damaging	Het
Pakap	T	C	4: 57,829,434 (GRCm39)		probably benign	Het
Pcdhb8	C	T	18: 37,490,100 (GRCm39)	R593C	probably benign	Het
Pgm3	A	G	9: 86,438,243 (GRCm39)		probably null	Het
Pirt	T	A	11: 66,816,998 (GRCm39)	V103E	probably damaging	Het
Plxnc1	T	A	10: 94,635,230 (GRCm39)	D1332V	probably damaging	Het
Ppfia4	A	T	1: 134,256,518 (GRCm39)	V122E	probably damaging	Het
Pramel14	A	G	4: 143,720,088 (GRCm39)		probably benign	Het
Prmt2	C	T	10: 76,044,517 (GRCm39)		probably benign	Het
Prrc2a	G	T	17: 35,372,536 (GRCm39)	P1702T	probably damaging	Het
Prss39	A	T	1: 34,539,279 (GRCm39)	H173L	probably damaging	Het
Rabl6	A	G	2: 25,476,878 (GRCm39)		probably null	Het
Rb1cc1	T	A	1: 6,319,014 (GRCm39)	I794K	possibly damaging	Het
Reln	T	C	5: 22,125,535 (GRCm39)	D2716G	probably damaging	Het
Sbf2	ACC	AC	7: 109,929,890 (GRCm39)		probably null	Het
Sema6d	T	A	2: 124,502,665 (GRCm39)	F583L	possibly damaging	Het
Setx	T	A	2: 29,036,819 (GRCm39)	H1101Q	possibly damaging	Het
Sis	A	G	3: 72,872,938 (GRCm39)	C67R	probably damaging	Het
Skint1	T	A	4: 111,886,596 (GRCm39)		probably benign	Het
Smg6	C	A	11: 75,053,757 (GRCm39)	T1413K	probably benign	Het
Spata31d1a	A	T	13: 59,850,073 (GRCm39)	I685N	possibly damaging	Het
Spef2	T	A	15: 9,592,844 (GRCm39)	N1499I	probably damaging	Het
Stk11ip	T	A	1: 75,508,932 (GRCm39)		probably null	Het
Stxbp1	A	C	2: 32,692,795 (GRCm39)	I407S	probably damaging	Het
Svil	T	C	18: 5,117,002 (GRCm39)	S2059P	probably damaging	Het
Syne1	C	T	10: 5,300,933 (GRCm39)	V932M	probably damaging	Het
Tacc1	A	C	8: 25,668,020 (GRCm39)		probably benign	Het
Tbc1d13	C	A	2: 30,025,576 (GRCm39)		probably benign	Het
Tbc1d15	A	C	10: 115,075,204 (GRCm39)	D59E	probably damaging	Het
Tcaf2	A	G	6: 42,619,445 (GRCm39)	F194S	probably damaging	Het
Terf2ip	T	A	8: 112,738,127 (GRCm39)	M5K	probably benign	Het
Tgfbr2	A	T	9: 115,987,388 (GRCm39)	D40E	probably benign	Het
Tm4sf5	T	A	11: 70,401,495 (GRCm39)	S165T	probably damaging	Het
Tmprss3	A	T	17: 31,412,886 (GRCm39)	C129S	probably damaging	Het
Tmx2	T	C	2: 84,502,740 (GRCm39)	D256G	probably benign	Het
Tnr	A	G	1: 159,695,673 (GRCm39)	D532G	probably damaging	Het
Tnrc18	T	A	5: 142,762,494 (GRCm39)	H465L	unknown	Het
Togaram2	A	T	17: 72,007,504 (GRCm39)	Q350L	possibly damaging	Het
Topaz1	G	A	9: 122,578,971 (GRCm39)	C627Y	possibly damaging	Het
Tpx2	A	T	2: 152,715,058 (GRCm39)	Q93L	probably benign	Het
Trim54	T	C	5: 31,293,526 (GRCm39)		probably null	Het
Troap	T	A	15: 98,980,541 (GRCm39)	C574S	probably damaging	Het
Tut7	A	T	13: 59,964,669 (GRCm39)		probably null	Het
Ubr4	T	C	4: 139,206,373 (GRCm39)		probably null	Het
Vmn2r51	A	G	7: 9,834,396 (GRCm39)	V214A	possibly damaging	Het
Vmn2r66	A	T	7: 84,644,484 (GRCm39)	M642K	probably benign	Het
Vwa5a	T	A	9: 38,635,191 (GRCm39)	I232N	probably damaging	Het
Zfp820	A	T	17: 22,038,685 (GRCm39)	S214R	probably damaging	Het
Zfp955b	A	T	17: 33,524,437 (GRCm39)	S43R	probably damaging	Het
Zgrf1	C	T	3: 127,381,687 (GRCm39)	T1162M	probably benign	Het

Other mutations in Or51i1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02296:Or51i1	APN	7	103,671,311 (GRCm39)	splice site	probably null
IGL02552:Or51i1	APN	7	103,671,463 (GRCm39)	missense	probably damaging	1.00
IGL03084:Or51i1	APN	7	103,670,838 (GRCm39)	missense	probably benign
R0470:Or51i1	UTSW	7	103,670,877 (GRCm39)	missense	probably damaging	1.00
R1645:Or51i1	UTSW	7	103,671,210 (GRCm39)	missense	probably damaging	1.00
R4946:Or51i1	UTSW	7	103,671,219 (GRCm39)	missense	probably damaging	1.00
R5329:Or51i1	UTSW	7	103,671,204 (GRCm39)	missense	probably damaging	1.00
R5756:Or51i1	UTSW	7	103,670,889 (GRCm39)	missense	probably damaging	1.00
R5804:Or51i1	UTSW	7	103,671,439 (GRCm39)	missense	probably benign
R6157:Or51i1	UTSW	7	103,671,105 (GRCm39)	missense	possibly damaging	0.86
R7846:Or51i1	UTSW	7	103,670,736 (GRCm39)	missense	possibly damaging	0.94
R8977:Or51i1	UTSW	7	103,670,762 (GRCm39)	nonsense	probably null
R9505:Or51i1	UTSW	7	103,670,698 (GRCm39)	missense	probably damaging	0.98
R9684:Or51i1	UTSW	7	103,671,079 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATGGATGTCTCCACATGCCAC -3'
(R):5'- TGGTCATTCGGGAACCTCCTCTAC -3'

Sequencing Primer
(F):5'- AATGGTGTAGCACATTGCCC -3'
(R):5'- CTACACCAACCCATGTACTATTTC -3'

Posted On

2013-07-11