Mutagenetix > Incidental Mutation

Incidental Mutation 'R9021:Or11h4'

686237

Institutional Source

Beutler Lab

Gene Symbol

Or11h4

Ensembl Gene

ENSMUSG00000059069

Gene Name

olfactory receptor family 11 subfamily H member 4

Synonyms

MOR106-1, Olfr749, GA_x6K02T2PMLR-6484046-6483105

MMRRC Submission

068851-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R9021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50973676-50981781 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 50974554 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 22 (I22L)

Ref Sequence

ENSEMBL: ENSMUSP00000074242 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074674] [ENSMUST00000214290]

AlphaFold

E9Q438

Predicted Effect

probably benign
Transcript: ENSMUST00000074674
AA Change: I22L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074242
Gene: ENSMUSG00000059069
AA Change: I22L

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	5.2e-53	PFAM
Pfam:7tm_1	40	289	7.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214290
AA Change: I22L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (64/65)

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]
PHENOTYPE: A reporter allele shows expression of this olfactory receptor by embryonic day 15.5 and throughout olfactory development there is an increase in the numbers of expressing olfactory sensory neurons with expression localized to the dorsal main olfactory epithelium. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	G	9: 104,003,864 (GRCm39)	D770G	possibly damaging	Het
Amph	G	A	13: 19,284,071 (GRCm39)	G200D	probably benign	Het
Asap2	T	A	12: 21,253,999 (GRCm39)	L170H	possibly damaging	Het
Asap3	T	C	4: 135,966,299 (GRCm39)		probably null	Het
Atxn2l	A	T	7: 126,094,712 (GRCm39)	M595K	probably benign	Het
Bltp1	T	A	3: 37,052,493 (GRCm39)	D3064E	probably benign	Het
Ccnf	A	T	17: 24,445,679 (GRCm39)	Y522*	probably null	Het
Ceacam5	A	T	7: 17,448,877 (GRCm39)	Y81F	possibly damaging	Het
Chd2	A	T	7: 73,091,393 (GRCm39)	M1616K	probably benign	Het
Clint1	T	A	11: 45,797,042 (GRCm39)	S374R	probably benign	Het
Col6a6	A	T	9: 105,586,745 (GRCm39)	F1759I	possibly damaging	Het
Crocc	T	A	4: 140,749,674 (GRCm39)	I1487F	probably benign	Het
Dll4	TC	T	2: 119,163,054 (GRCm39)		probably null	Het
Dop1a	T	C	9: 86,402,490 (GRCm39)	I1230T	probably benign	Het
Dsp	A	T	13: 38,380,808 (GRCm39)	I2518L	possibly damaging	Het
Eps8l2	G	T	7: 140,936,117 (GRCm39)	V224L	possibly damaging	Het
Etv1	T	C	12: 38,830,971 (GRCm39)	V13A	probably benign	Het
Fam78a	T	C	2: 31,959,313 (GRCm39)	M266V	probably benign	Het
Fam81a	A	G	9: 70,017,538 (GRCm39)		probably null	Het
Fhad1	T	C	4: 141,709,620 (GRCm39)	I245V	probably damaging	Het
Flot2	T	C	11: 77,949,805 (GRCm39)	V378A	probably benign	Het
Fras1	T	A	5: 96,888,609 (GRCm39)	S2718R	probably damaging	Het
Gata3os	T	A	2: 9,887,345 (GRCm39)		probably benign	Het
Gm14305	A	G	2: 176,413,167 (GRCm39)	K353R	possibly damaging	Het
Inppl1	A	C	7: 101,480,915 (GRCm39)	V315G	probably damaging	Het
Kbtbd6	A	T	14: 79,690,822 (GRCm39)	I506F	probably damaging	Het
Klf6	G	C	13: 5,915,160 (GRCm39)	G200R	probably benign	Het
Lrp6	A	G	6: 134,518,930 (GRCm39)	I45T	probably benign	Het
Lrriq4	T	G	3: 30,704,401 (GRCm39)	V143G	probably benign	Het
Map2k2	G	T	10: 80,955,159 (GRCm39)	G217C	probably damaging	Het
Mcm10	T	C	2: 4,997,782 (GRCm39)	N813S	probably benign	Het
Mfng	T	A	15: 78,657,348 (GRCm39)	N42I	probably benign	Het
Mical1	A	G	10: 41,361,141 (GRCm39)	D808G	probably benign	Het
Mmp14	T	C	14: 54,673,632 (GRCm39)	F99L	probably benign	Het
Mroh8	A	T	2: 157,064,787 (GRCm39)	V763E	probably benign	Het
Mycbp2	G	T	14: 103,551,752 (GRCm39)	P193T	probably benign	Het
Myo1b	T	C	1: 51,821,142 (GRCm39)	D447G	possibly damaging	Het
Myoz2	T	A	3: 122,807,284 (GRCm39)		probably benign	Het
Narf	C	A	11: 121,136,209 (GRCm39)	P195Q	probably damaging	Het
Nfatc3	T	A	8: 106,818,745 (GRCm39)	F496I	probably damaging	Het
Nudt13	A	G	14: 20,360,772 (GRCm39)	Y225C	probably damaging	Het
Or10ab5	A	T	7: 108,245,428 (GRCm39)	Y118*	probably null	Het
Or2i1	G	T	17: 37,508,380 (GRCm39)	R85S	possibly damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Osbpl10	C	T	9: 114,807,939 (GRCm39)	A65V	unknown	Het
Pdcd2l	A	G	7: 33,885,760 (GRCm39)	L308P	probably damaging	Het
Pitx2	T	A	3: 129,008,432 (GRCm39)		probably null	Het
Pms2	T	A	5: 143,862,744 (GRCm39)	F617Y	probably damaging	Het
Poc1b	A	G	10: 98,980,183 (GRCm39)	N180S	possibly damaging	Het
Poln	T	A	5: 34,286,485 (GRCm39)	M228L	probably benign	Het
Prex1	C	A	2: 166,432,429 (GRCm39)	V707F	possibly damaging	Het
Rasal2	A	T	1: 157,058,514 (GRCm39)	V12D	unknown	Het
Ripk1	A	G	13: 34,205,373 (GRCm39)	E284G	probably benign	Het
Rpa2	T	C	4: 132,499,251 (GRCm39)	W107R	probably damaging	Het
Selp	A	G	1: 163,954,177 (GRCm39)	Y159C	probably damaging	Het
Serpina1a	A	T	12: 103,824,293 (GRCm39)	W30R	probably benign	Het
Skic2	A	G	17: 35,065,579 (GRCm39)	V325A	probably damaging	Het
Slco6d1	A	G	1: 98,371,396 (GRCm39)	R294G	probably benign	Het
Supt5	A	T	7: 28,016,671 (GRCm39)	I737N	probably damaging	Het
Thap11	T	C	8: 106,582,660 (GRCm39)	V223A	probably damaging	Het
Trabd	T	A	15: 88,968,913 (GRCm39)	S144T	possibly damaging	Het
Trim24	T	A	6: 37,933,949 (GRCm39)	S701T	probably damaging	Het
Trim52	C	T	14: 106,344,986 (GRCm39)	P215S	possibly damaging	Het
Vmn1r172	G	T	7: 23,359,749 (GRCm39)	L211F	probably damaging	Het
Vmn2r86	A	C	10: 130,282,934 (GRCm39)	Y561D	probably damaging	Het
Zfp384	C	A	6: 125,013,336 (GRCm39)	A468E		Het
Zfp658	A	G	7: 43,223,381 (GRCm39)	H552R	possibly damaging	Het
Zranb2	T	C	3: 157,250,720 (GRCm39)	V297A	unknown	Het

Other mutations in Or11h4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03188:Or11h4	APN	14	50,974,315 (GRCm39)	nonsense	probably null
R0141:Or11h4	UTSW	14	50,973,840 (GRCm39)	missense	possibly damaging	0.94
R0462:Or11h4	UTSW	14	50,974,554 (GRCm39)	missense	probably benign
R1424:Or11h4	UTSW	14	50,974,521 (GRCm39)	missense	probably benign
R1791:Or11h4	UTSW	14	50,974,144 (GRCm39)	small insertion	probably benign
R1912:Or11h4	UTSW	14	50,974,235 (GRCm39)	missense	probably damaging	1.00
R2069:Or11h4	UTSW	14	50,974,033 (GRCm39)	missense	possibly damaging	0.51
R2171:Or11h4	UTSW	14	50,973,876 (GRCm39)	missense	probably benign	0.33
R2176:Or11h4	UTSW	14	50,973,681 (GRCm39)	missense	probably benign
R2184:Or11h4	UTSW	14	50,974,059 (GRCm39)	missense	probably damaging	0.98
R3158:Or11h4	UTSW	14	50,974,271 (GRCm39)	missense	probably benign	0.01
R5068:Or11h4	UTSW	14	50,974,531 (GRCm39)	missense	probably benign	0.02
R5069:Or11h4	UTSW	14	50,974,531 (GRCm39)	missense	probably benign	0.02
R5070:Or11h4	UTSW	14	50,974,531 (GRCm39)	missense	probably benign	0.02
R5733:Or11h4	UTSW	14	50,974,509 (GRCm39)	missense	probably benign	0.32
R6155:Or11h4	UTSW	14	50,974,076 (GRCm39)	missense	probably benign	0.02
R6728:Or11h4	UTSW	14	50,974,296 (GRCm39)	missense	possibly damaging	0.61
R7033:Or11h4	UTSW	14	50,974,164 (GRCm39)	missense	possibly damaging	0.78
R7276:Or11h4	UTSW	14	50,974,187 (GRCm39)	missense	possibly damaging	0.90
R7535:Or11h4	UTSW	14	50,974,122 (GRCm39)	missense	probably benign	0.37
R8124:Or11h4	UTSW	14	50,973,743 (GRCm39)	missense	probably benign	0.03
R9632:Or11h4	UTSW	14	50,974,199 (GRCm39)	missense	probably benign	0.42
R9710:Or11h4	UTSW	14	50,974,199 (GRCm39)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- ATGGCCTTGGTCTTAGACAGAATG -3'
(R):5'- GGTTTCAGAATACTCTTGTGTTTCC -3'

Sequencing Primer
(F):5'- CCTTGGTCTTAGACAGAATGTTGGC -3'
(R):5'- CCTTGTAGAACTTAAGTTTGACACTC -3'

Posted On

2021-10-11