Mutagenetix > Incidental Mutation

Incidental Mutation 'R2208:Or11h4b'

236793

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

040210-MU

Accession Numbers

Essential gene?

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

Stock #

R2208 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50918148-50919102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50919020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 24 (I24V)

Ref Sequence

ENSEMBL: ENSMUSP00000149081 (fasta)

Gene Model

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

AlphaFold

E9PXH6

Predicted Effect

probably benign
Transcript: ENSMUST00000078075
AA Change: I24V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000077220
Gene: ENSMUSG00000057179
AA Change: I24V

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 benign
Transcript: ENSMUST00000205373
AA Change: I24V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000205897

Predicted Effect

probably benign
Transcript: ENSMUST00000213238
AA Change: I24V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (51/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,995,096 (GRCm39)	V5460A	probably benign	Het
Bco2	A	G	9: 50,444,755 (GRCm39)	V517A	probably damaging	Het
Brca2	T	A	5: 150,455,809 (GRCm39)	D183E	probably damaging	Het
Ccdc142	T	C	6: 83,084,941 (GRCm39)		probably null	Het
Ccdc39	A	G	3: 33,895,327 (GRCm39)	L34P	probably damaging	Het
Cdc42bpb	T	A	12: 111,302,463 (GRCm39)	H198L	probably damaging	Het
Cdc73	T	A	1: 143,485,120 (GRCm39)	E516V	probably damaging	Het
Cep170b	T	A	12: 112,705,419 (GRCm39)	L1059Q	probably benign	Het
Chrm1	T	C	19: 8,655,463 (GRCm39)	L56P	probably damaging	Het
Clec4d	T	A	6: 123,242,314 (GRCm39)	V22D	probably damaging	Het
Cplane1	T	A	15: 8,223,887 (GRCm39)	N883K	probably benign	Het
Cyp2c39	T	C	19: 39,549,405 (GRCm39)	Y308H	possibly damaging	Het
Cyp2d12	T	C	15: 82,441,137 (GRCm39)	L141P	probably damaging	Het
Cyp4x1	G	T	4: 114,983,791 (GRCm39)	Q85K	probably benign	Het
Dpysl5	G	A	5: 30,948,941 (GRCm39)	D399N	probably damaging	Het
Enpp7	T	C	11: 118,879,588 (GRCm39)		probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fitm2	T	A	2: 163,314,604 (GRCm39)		probably benign	Het
Gng10	T	A	4: 59,035,314 (GRCm39)	I26N	possibly damaging	Het
Gpr33	C	T	12: 52,070,236 (GRCm39)	V268I	probably benign	Het
Hmcn2	G	A	2: 31,270,309 (GRCm39)	C1182Y	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Krt36	C	T	11: 99,993,765 (GRCm39)	V358M	probably damaging	Het
Lmod3	T	C	6: 97,224,838 (GRCm39)	I328V	probably benign	Het
Lrp8	T	C	4: 107,712,987 (GRCm39)	V580A	probably damaging	Het
Masp2	T	C	4: 148,698,872 (GRCm39)	I651T	probably damaging	Het
Mnd1	C	A	3: 84,041,416 (GRCm39)	C62F	probably benign	Het
Msi2	A	T	11: 88,480,934 (GRCm39)	S118T	probably damaging	Het
Muc19	T	C	15: 91,755,747 (GRCm39)		noncoding transcript	Het
Nabp1	G	A	1: 51,516,773 (GRCm39)	R32*	probably null	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Nup88	T	C	11: 70,856,545 (GRCm39)	D196G	probably damaging	Het
Pax1	T	A	2: 147,207,722 (GRCm39)	I198N	probably damaging	Het
Pde3a	A	G	6: 141,196,073 (GRCm39)	E253G	probably damaging	Het
Phldb1	C	T	9: 44,607,428 (GRCm39)	R1192Q	probably damaging	Het
Pianp	C	A	6: 124,976,602 (GRCm39)	P137Q	probably damaging	Het
Prdm15	A	C	16: 97,600,464 (GRCm39)		probably null	Het
Ptprf	A	T	4: 118,126,369 (GRCm39)		probably benign	Het
Rfx7	A	G	9: 72,525,246 (GRCm39)	D812G	probably benign	Het
Rgs22	T	C	15: 36,050,378 (GRCm39)	T691A	probably benign	Het
Rundc3a	A	T	11: 102,292,914 (GRCm39)	S436C	probably damaging	Het
Sntb1	T	C	15: 55,769,714 (GRCm39)	T92A	possibly damaging	Het
Tars3	T	C	7: 65,332,596 (GRCm39)	S566P	probably damaging	Het
Tbc1d32	A	T	10: 56,026,888 (GRCm39)		probably null	Het
Tep1	T	C	14: 51,104,321 (GRCm39)	Q191R	probably benign	Het
Tmc2	C	A	2: 130,056,483 (GRCm39)		probably null	Het
Tns1	A	C	1: 74,118,399 (GRCm39)	I77S	probably damaging	Het
Trpd52l3	T	C	19: 29,981,646 (GRCm39)	W134R	probably damaging	Het
Vmn2r15	A	C	5: 109,445,309 (GRCm39)	N38K	possibly damaging	Het
Wdr90	A	T	17: 26,079,362 (GRCm39)	D257E	probably damaging	Het
Zbtb9	T	C	17: 27,193,098 (GRCm39)	C168R	possibly damaging	Het
Zfp1004	T	A	2: 150,035,065 (GRCm39)	V462E	probably benign	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
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
R8427:Or11h4b	UTSW	14	50,918,606 (GRCm39)	missense	probably damaging	0.99
X0067:Or11h4b	UTSW	14	50,918,986 (GRCm39)	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- GCACCCTGAAAATGAGATGGC -3'
(R):5'- GTCATTTGTGTCTAGACAGTCAGTG -3'

Sequencing Primer
(F):5'- CCTGAAAATGAGATGGCCTTGGTC -3'
(R):5'- GTCTAGACAGTCAGTGTTATTCATC -3'

Posted On

2014-10-02