Mutagenetix > Incidental Mutation

Incidental Mutation 'R1240:Or4b1d'

151913

Institutional Source

Beutler Lab

Gene Symbol

Or4b1d

Ensembl Gene

ENSMUSG00000075066

Gene Name

olfactory receptor family 4 subfamily B member 1D

Synonyms

Olfr32, MOR227-9_p, MOR227-7P, MTPCR05, GA_x6K02T2Q125-51573576-51572650

MMRRC Submission

039307-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R1240 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89966617-89972640 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 89969157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 109 (I109L)

Ref Sequence

ENSEMBL: ENSMUSP00000150239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099755] [ENSMUST00000213293] [ENSMUST00000214973] [ENSMUST00000215153] [ENSMUST00000215659] [ENSMUST00000215765]

AlphaFold

Q7TQZ0

Predicted Effect

probably benign
Transcript: ENSMUST00000099755
AA Change: I109L

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000097344
Gene: ENSMUSG00000075066
AA Change: I109L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	28	302	1.7e-52	PFAM
Pfam:7tm_1	38	284	6.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213293
AA Change: I109L

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000214973
AA Change: I109L

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000215153
AA Change: I109L

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215659
AA Change: I109L

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

probably benign
Transcript: ENSMUST00000215765
AA Change: I109L

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	G	5: 124,227,984 (GRCm39)	I86L	probably benign	Het
Ankfn1	A	G	11: 89,282,960 (GRCm39)	L229P	probably damaging	Het
Aoc1	T	C	6: 48,882,549 (GRCm39)	S164P	probably benign	Het
Arhgef28	C	T	13: 98,066,000 (GRCm39)	V1618I	probably benign	Het
Arpc3	T	C	5: 122,542,242 (GRCm39)	F88S	probably damaging	Het
Asgr2	G	T	11: 69,987,676 (GRCm39)	R58L	possibly damaging	Het
Bach2	T	C	4: 32,563,198 (GRCm39)	F432S	probably damaging	Het
Brms1l	C	A	12: 55,891,293 (GRCm39)	R116S	probably damaging	Het
Casp2	T	A	6: 42,245,879 (GRCm39)	C179S	probably damaging	Het
Ccdc73	A	T	2: 104,821,906 (GRCm39)	E618D	probably benign	Het
Cdh6	T	A	15: 13,057,541 (GRCm39)	D260V	possibly damaging	Het
Cenpc1	G	T	5: 86,183,369 (GRCm39)	N473K	probably benign	Het
Chst2	T	C	9: 95,287,536 (GRCm39)	E270G	possibly damaging	Het
Chst9	C	T	18: 15,586,231 (GRCm39)	E111K	probably benign	Het
Cyp3a44	T	G	5: 145,711,250 (GRCm39)	I474L	probably benign	Het
Dbr1	G	T	9: 99,466,073 (GRCm39)	E550D	probably benign	Het
Dph6	T	C	2: 114,475,199 (GRCm39)		probably null	Het
Fam227b	T	A	2: 125,966,505 (GRCm39)	I136L	possibly damaging	Het
Fcgbp	A	G	7: 27,819,950 (GRCm39)	N2559S	probably damaging	Het
Fh1	A	T	1: 175,431,581 (GRCm39)	I435N	probably damaging	Het
Gab1	A	C	8: 81,515,159 (GRCm39)	S386R	probably damaging	Het
Gkn1	T	A	6: 87,326,098 (GRCm39)	N31Y	probably damaging	Het
Grk2	A	G	19: 4,340,707 (GRCm39)	C251R	probably damaging	Het
H2-DMa	G	T	17: 34,357,380 (GRCm39)		probably null	Het
Hp1bp3	T	C	4: 137,957,009 (GRCm39)	S63P	probably damaging	Het
Ift74	A	G	4: 94,581,174 (GRCm39)		probably null	Het
Inf2	G	A	12: 112,577,210 (GRCm39)	R1018Q	unknown	Het
Kat2b	A	G	17: 53,931,425 (GRCm39)	D141G	probably benign	Het
Klhl30	T	C	1: 91,288,737 (GRCm39)	S499P	probably benign	Het
Lama2	A	C	10: 26,917,120 (GRCm39)	D2268E	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Marf1	T	C	16: 13,964,626 (GRCm39)	N258S	possibly damaging	Het
Mc1r	T	A	8: 124,134,999 (GRCm39)	C251S	probably damaging	Het
Myo15b	C	A	11: 115,771,327 (GRCm39)	Q257K	possibly damaging	Het
Nbeal2	A	G	9: 110,456,176 (GRCm39)	F2431S	probably damaging	Het
Neb	T	A	2: 52,186,321 (GRCm39)	H917L	possibly damaging	Het
Nlrp1a	A	G	11: 71,004,292 (GRCm39)		probably null	Het
Nr1d2	A	T	14: 18,211,891 (GRCm38)	M404K	probably benign	Het
Or8u8	T	G	2: 86,012,453 (GRCm39)	M1L	possibly damaging	Het
Otoa	T	C	7: 120,755,713 (GRCm39)	S1040P	probably benign	Het
Pctp	T	C	11: 89,893,640 (GRCm39)	D10G	probably benign	Het
Pja2	G	T	17: 64,616,613 (GRCm39)	T94K	probably benign	Het
Plxna1	C	T	6: 89,298,032 (GRCm39)	V1749M	probably damaging	Het
Prdm15	C	T	16: 97,638,800 (GRCm39)	E87K	probably damaging	Het
Rgsl1	A	G	1: 153,660,937 (GRCm39)	F1028L	probably benign	Het
Sepsecs	T	C	5: 52,818,021 (GRCm39)	N252S	probably damaging	Het
Skint5	A	T	4: 113,574,304 (GRCm39)	L749Q	unknown	Het
Slc22a22	G	A	15: 57,114,268 (GRCm39)	S353F	probably benign	Het
Slc49a4	A	G	16: 35,518,379 (GRCm39)	F445L	probably benign	Het
Slc7a13	A	T	4: 19,819,212 (GRCm39)	K137N	probably damaging	Het
Snx13	G	T	12: 35,141,405 (GRCm39)	V163L	probably damaging	Het
Synrg	A	T	11: 83,914,182 (GRCm39)	T1115S	probably damaging	Het
Tenm3	A	G	8: 48,740,928 (GRCm39)	V1185A	possibly damaging	Het
Tent5b	T	C	4: 133,213,815 (GRCm39)	F229L	probably benign	Het
Tg	T	A	15: 66,700,397 (GRCm39)	N118K	probably benign	Het
Top1mt	T	C	15: 75,541,916 (GRCm39)	K153E	probably damaging	Het
Trmt11	T	C	10: 30,466,821 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,675,061 (GRCm39)	D1953G	possibly damaging	Het
Vmn2r25	T	A	6: 123,828,864 (GRCm39)	S137C	probably damaging	Het
Vwf	C	A	6: 125,580,271 (GRCm39)		probably null	Het

Other mutations in Or4b1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01328:Or4b1d	APN	2	89,969,418 (GRCm39)	missense	probably benign	0.30
IGL01976:Or4b1d	APN	2	89,969,268 (GRCm39)	missense	probably damaging	1.00
IGL02076:Or4b1d	APN	2	89,969,159 (GRCm39)	missense	probably damaging	1.00
IGL03030:Or4b1d	APN	2	89,969,006 (GRCm39)	missense	possibly damaging	0.93
IGL03235:Or4b1d	APN	2	89,969,414 (GRCm39)	missense	possibly damaging	0.88
IGL03410:Or4b1d	APN	2	89,969,489 (GRCm39)	start gained	probably benign
R1511:Or4b1d	UTSW	2	89,968,748 (GRCm39)	missense	probably benign	0.13
R1602:Or4b1d	UTSW	2	89,969,399 (GRCm39)	missense	probably damaging	1.00
R1828:Or4b1d	UTSW	2	89,968,931 (GRCm39)	missense	probably damaging	0.99
R2023:Or4b1d	UTSW	2	89,969,200 (GRCm39)	nonsense	probably null
R2177:Or4b1d	UTSW	2	89,968,808 (GRCm39)	missense	possibly damaging	0.70
R2679:Or4b1d	UTSW	2	89,968,889 (GRCm39)	missense	possibly damaging	0.93
R4490:Or4b1d	UTSW	2	89,969,261 (GRCm39)	missense	probably damaging	0.97
R4585:Or4b1d	UTSW	2	89,968,558 (GRCm39)	missense	probably benign	0.01
R4586:Or4b1d	UTSW	2	89,968,558 (GRCm39)	missense	probably benign	0.01
R4649:Or4b1d	UTSW	2	89,969,432 (GRCm39)	missense	probably damaging	0.99
R4688:Or4b1d	UTSW	2	89,969,343 (GRCm39)	missense	possibly damaging	0.80
R4694:Or4b1d	UTSW	2	89,968,593 (GRCm39)	nonsense	probably null
R5245:Or4b1d	UTSW	2	89,968,606 (GRCm39)	missense	probably damaging	1.00
R5509:Or4b1d	UTSW	2	89,969,236 (GRCm39)	missense	probably damaging	1.00
R5991:Or4b1d	UTSW	2	89,968,578 (GRCm39)	nonsense	probably null
R6004:Or4b1d	UTSW	2	89,969,343 (GRCm39)	missense	probably benign	0.32
R6128:Or4b1d	UTSW	2	89,968,954 (GRCm39)	nonsense	probably null
R6519:Or4b1d	UTSW	2	89,969,156 (GRCm39)	missense	possibly damaging	0.90
R7472:Or4b1d	UTSW	2	89,968,668 (GRCm39)	missense	probably damaging	1.00
R7892:Or4b1d	UTSW	2	89,968,836 (GRCm39)	missense	probably benign	0.00
R8017:Or4b1d	UTSW	2	89,969,170 (GRCm39)	missense	probably benign	0.02
R8046:Or4b1d	UTSW	2	89,969,159 (GRCm39)	missense	probably damaging	1.00
R8464:Or4b1d	UTSW	2	89,968,947 (GRCm39)	missense	possibly damaging	0.67
R8712:Or4b1d	UTSW	2	89,969,114 (GRCm39)	missense	probably damaging	1.00
R8998:Or4b1d	UTSW	2	89,969,472 (GRCm39)	missense	probably benign
R9789:Or4b1d	UTSW	2	89,969,004 (GRCm39)	missense	probably benign	0.23
X0066:Or4b1d	UTSW	2	89,968,734 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACATTGGGACCACAGAAAGGC -3'
(R):5'- TGTGACTGAGTTGATCATCACTGGC -3'

Sequencing Primer
(F):5'- CAAAGGGAGAGTGATGAAAATCTG -3'
(R):5'- ACATCAGTAAGAGTCTGTATTCCCC -3'

Posted On

2014-01-29