Mutagenetix > Incidental Mutation

Incidental Mutation 'R8427:Or11h4b'

653548

Institutional Source

Beutler Lab

Gene Symbol

Or11h4b

Ensembl Gene

ENSMUSG00000057179

Gene Name

olfactory receptor family 11 subfamily H member 4B

Synonyms

MOR106-16, GA_x6K02T2PMLR-6420220-6419279, Olfr747, MOR106-7

MMRRC Submission

067821-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R8427 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50918148-50919102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50918606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 162 (I162F)

Ref Sequence

ENSEMBL: ENSMUSP00000149081 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078075] [ENSMUST00000205373] [ENSMUST00000205897] [ENSMUST00000213238]

AlphaFold

E9PXH6

Predicted Effect

probably damaging
Transcript: ENSMUST00000078075
AA Change: I162F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000077220
Gene: ENSMUSG00000057179
AA Change: I162F

Domain	Start	End	E-Value	Type
Pfam:7tm_4	30	307	2.2e-53	PFAM
Pfam:7tm_1	40	289	2.8e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000205373
AA Change: I162F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000205897

Predicted Effect

probably damaging
Transcript: ENSMUST00000213238
AA Change: I162F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	G	T	12: 72,950,060 (GRCm39)	S271R	possibly damaging	Het
Adrb2	A	G	18: 62,312,345 (GRCm39)	V160A	possibly damaging	Het
Atp13a5	T	C	16: 29,167,820 (GRCm39)	D113G	possibly damaging	Het
B4galt7	T	A	13: 55,757,138 (GRCm39)	V312D	possibly damaging	Het
Bccip	A	G	7: 133,311,220 (GRCm39)	D45G	probably benign	Het
Bcl2l2	A	G	14: 55,122,860 (GRCm39)	Y151C	probably damaging	Het
Ccdc146	T	C	5: 21,604,790 (GRCm39)	E16G	unknown	Het
Cdr2l	C	A	11: 115,284,865 (GRCm39)	D400E	probably damaging	Het
Celsr2	A	C	3: 108,299,949 (GRCm39)	*2920E	probably null	Het
Cib1	A	G	7: 79,877,749 (GRCm39)	F183L	probably damaging	Het
Cnot1	A	G	8: 96,460,952 (GRCm39)	Y1716H	probably benign	Het
Copb1	A	G	7: 113,825,989 (GRCm39)	V665A	probably benign	Het
Crmp1	C	T	5: 37,448,539 (GRCm39)	T683I	probably damaging	Het
Cubn	G	C	2: 13,433,567 (GRCm39)	F1114L	probably benign	Het
Dab2	A	T	15: 6,458,840 (GRCm39)	R251*	probably null	Het
Ddx28	A	G	8: 106,736,912 (GRCm39)	V382A	probably benign	Het
Eml1	C	A	12: 108,496,580 (GRCm39)	T612K	probably damaging	Het
Hoxb3	CGGCGGTGGCGG	CGGCGGTGGCGGTGGCGG	11: 96,236,415 (GRCm39)		probably benign	Het
Hoxb3	TGGCGG	TGGCGGAGGCGG	11: 96,236,421 (GRCm39)		probably benign	Het
Iapp	T	A	6: 142,244,612 (GRCm39)	I13N	probably damaging	Het
Ifit1bl1	A	T	19: 34,576,666 (GRCm39)		probably null	Het
Itgb4	T	A	11: 115,882,544 (GRCm39)		probably null	Het
Kcnh3	T	C	15: 99,124,934 (GRCm39)	V128A	probably benign	Het
Kmt2a	A	G	9: 44,756,720 (GRCm39)	F1176L	probably damaging	Het
Lifr	A	G	15: 7,220,462 (GRCm39)	T1031A	probably benign	Het
Lrp2	T	C	2: 69,281,641 (GRCm39)	D3910G	probably damaging	Het
Man1a2	A	T	3: 100,592,001 (GRCm39)	S60T	probably benign	Het
Mdh1	C	T	11: 21,514,138 (GRCm39)	R93K	probably benign	Het
Mical1	G	T	10: 41,354,591 (GRCm39)	K142N	probably damaging	Het
Nf2	T	A	11: 4,741,118 (GRCm39)	E365D	probably benign	Het
Nfrkb	A	G	9: 31,330,323 (GRCm39)	M1192V	probably benign	Het
Npas4	A	C	19: 5,036,108 (GRCm39)	D685E	probably benign	Het
Or12k5	G	T	2: 36,894,794 (GRCm39)	Y277*	probably null	Het
Or4f4-ps1	A	G	2: 111,330,310 (GRCm39)	T238A	probably damaging	Het
Ovch2	G	A	7: 107,393,207 (GRCm39)	T222I	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Pld1	A	T	3: 28,142,795 (GRCm39)	I668F	probably damaging	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Ppa1	A	G	10: 61,496,704 (GRCm39)	D64G	possibly damaging	Het
Rnf133	T	C	6: 23,649,405 (GRCm39)	I175V	probably benign	Het
Rpp30	A	G	19: 36,071,812 (GRCm39)	I127V	probably benign	Het
Scube2	T	A	7: 109,399,797 (GRCm39)	H913L	probably damaging	Het
Sema6d	T	A	2: 124,507,197 (GRCm39)	S1045T	probably benign	Het
Skida1	A	T	2: 18,051,402 (GRCm39)	N496K	unknown	Het
Slc29a2	A	T	19: 5,080,448 (GRCm39)	I397F	probably benign	Het
Slc38a2	G	T	15: 96,590,294 (GRCm39)	R316S	probably damaging	Het
Slc40a1	A	C	1: 45,951,498 (GRCm39)	Y220D	probably damaging	Het
Strc	T	G	2: 121,208,012 (GRCm39)	H453P	probably damaging	Het
Tmprss3	T	A	17: 31,407,358 (GRCm39)	I312F	probably damaging	Het
Tnn	G	A	1: 159,958,256 (GRCm39)	T529I	probably damaging	Het
Tnr	A	T	1: 159,713,801 (GRCm39)	D743V	possibly damaging	Het
Trim42	A	T	9: 97,245,174 (GRCm39)	F542Y	probably benign	Het
Trpm2	A	T	10: 77,747,236 (GRCm39)	Y1421N	possibly damaging	Het
Ttn	T	C	2: 76,576,901 (GRCm39)	E24664G	probably damaging	Het
Ube2q2	T	C	9: 55,092,250 (GRCm39)		probably null	Het
Unc79	A	T	12: 103,045,297 (GRCm39)	R824S	probably benign	Het
V1ra8	A	G	6: 90,180,559 (GRCm39)	D254G	probably damaging	Het
Vmn1r173	A	T	7: 23,401,959 (GRCm39)	I65F	probably damaging	Het
Vmn2r16	T	A	5: 109,488,138 (GRCm39)	M337K	probably benign	Het
Wfs1	C	A	5: 37,125,431 (GRCm39)	G487C	probably damaging	Het
Xdh	T	C	17: 74,242,926 (GRCm39)	Y127C	probably damaging	Het
Zfp229	T	C	17: 21,965,815 (GRCm39)	S682P	probably damaging	Het
Zscan4-ps1	A	T	7: 10,802,447 (GRCm39)	D117E	possibly damaging	Het

Other mutations in Or11h4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02437:Or11h4b	APN	14	50,918,657 (GRCm39)	missense	probably benign	0.04
R0349:Or11h4b	UTSW	14	50,918,711 (GRCm39)	missense	probably benign	0.00
R0613:Or11h4b	UTSW	14	50,918,861 (GRCm39)	missense	probably benign	0.06
R1023:Or11h4b	UTSW	14	50,918,473 (GRCm39)	missense	probably damaging	1.00
R1126:Or11h4b	UTSW	14	50,918,720 (GRCm39)	missense	possibly damaging	0.94
R1298:Or11h4b	UTSW	14	50,918,337 (GRCm39)	nonsense	probably null
R1344:Or11h4b	UTSW	14	50,918,315 (GRCm39)	missense	probably benign
R1775:Or11h4b	UTSW	14	50,918,623 (GRCm39)	missense	possibly damaging	0.66
R1928:Or11h4b	UTSW	14	50,918,872 (GRCm39)	missense	probably benign	0.00
R2208:Or11h4b	UTSW	14	50,919,020 (GRCm39)	missense	probably benign	0.01
R4181:Or11h4b	UTSW	14	50,918,507 (GRCm39)	missense	probably benign	0.07
R4183:Or11h4b	UTSW	14	50,918,507 (GRCm39)	missense	probably benign	0.07
R4184:Or11h4b	UTSW	14	50,918,507 (GRCm39)	missense	probably benign	0.07
R5104:Or11h4b	UTSW	14	50,918,159 (GRCm39)	nonsense	probably null
R6144:Or11h4b	UTSW	14	50,918,392 (GRCm39)	missense	probably benign	0.01
R6768:Or11h4b	UTSW	14	50,919,049 (GRCm39)	missense	probably damaging	1.00
R7026:Or11h4b	UTSW	14	50,918,716 (GRCm39)	missense	probably damaging	0.98
R7454:Or11h4b	UTSW	14	50,918,281 (GRCm39)	missense	possibly damaging	0.94
R7777:Or11h4b	UTSW	14	50,918,261 (GRCm39)	missense	probably damaging	1.00
R7851:Or11h4b	UTSW	14	50,918,915 (GRCm39)	missense	probably damaging	1.00
X0067:Or11h4b	UTSW	14	50,918,986 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- CTTGAGCAACAAAATATAGGACCG -3'
(R):5'- GGCCATCTCATTTTCAGGGTG -3'

Sequencing Primer
(F):5'- ACCGAAGAATGTATGCAATAGTG -3'
(R):5'- ATTTCTTCTTTTCACTGGGTACAAC -3'

Posted On

2020-10-20