Mutagenetix > Incidental Mutation

Incidental Mutation 'R0613:Or11h4b'

216120

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

038802-MU

Accession Numbers

Essential gene?

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

Stock #

R0613 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

50918148-50919102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50918861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 77 (I77F)

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: I77F

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000077220
Gene: ENSMUSG00000057179
AA Change: I77F

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: I77F

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000205897

Predicted Effect

probably benign
Transcript: ENSMUST00000213238
AA Change: I77F

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.1189

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

100% (72/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acd	A	T	8: 106,427,200 (GRCm39)		probably null	Het
Adcy9	A	G	16: 4,237,403 (GRCm39)	S3P	probably damaging	Het
Adgrl4	T	C	3: 151,248,859 (GRCm39)		probably benign	Het
Aff3	T	C	1: 38,249,004 (GRCm39)	E700G	probably benign	Het
Ahctf1	A	G	1: 179,596,979 (GRCm39)	S56P	probably damaging	Het
Atp12a	T	A	14: 56,611,978 (GRCm39)	I384N	probably damaging	Het
Brca1	A	T	11: 101,399,036 (GRCm39)	S1519T	probably benign	Het
Ccl25	T	C	8: 4,399,850 (GRCm39)	V94A	probably benign	Het
Cep170	T	C	1: 176,602,246 (GRCm39)	T287A	probably benign	Het
Ces1a	A	G	8: 93,752,209 (GRCm39)	S383P	probably benign	Het
Cntnap3	A	T	13: 64,906,228 (GRCm39)	F793I	probably damaging	Het
Ctsm	T	C	13: 61,687,496 (GRCm39)	R89G	probably damaging	Het
Cyp2j12	T	G	4: 95,990,316 (GRCm39)	T417P	probably damaging	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Edn2	T	A	4: 120,019,061 (GRCm39)		probably null	Het
Emc1	T	A	4: 139,102,383 (GRCm39)		probably benign	Het
Entrep1	T	A	19: 23,963,853 (GRCm39)	N239Y	probably damaging	Het
Fras1	T	C	5: 96,848,347 (GRCm39)		probably benign	Het
Fsip2	A	T	2: 82,824,139 (GRCm39)	D6624V	probably damaging	Het
Gpr107	A	G	2: 31,068,297 (GRCm39)	Y253C	probably damaging	Het
Gpr108	A	G	17: 57,545,174 (GRCm39)		probably benign	Het
Grik1	A	G	16: 87,848,221 (GRCm39)		probably null	Het
Gtf3c1	G	A	7: 125,243,306 (GRCm39)	P1766L	possibly damaging	Het
Gucy2c	A	T	6: 136,737,721 (GRCm39)	N293K	probably damaging	Het
Hps6	C	A	19: 45,992,260 (GRCm39)	P66T	probably benign	Het
Hspa9	A	T	18: 35,081,033 (GRCm39)	V216E	probably damaging	Het
Igsf8	T	A	1: 172,145,156 (GRCm39)	M224K	probably benign	Het
Igsf9b	T	C	9: 27,238,216 (GRCm39)	V569A	probably damaging	Het
Itgb4	A	T	11: 115,884,168 (GRCm39)	I952F	probably damaging	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Khdrbs2	A	G	1: 32,696,603 (GRCm39)	H344R	possibly damaging	Het
Kmo	C	A	1: 175,465,458 (GRCm39)	R71S	probably damaging	Het
Lrrc31	A	G	3: 30,739,184 (GRCm39)		probably benign	Het
Map1b	T	A	13: 99,578,149 (GRCm39)	D168V	probably damaging	Het
Mfsd6	T	C	1: 52,697,855 (GRCm39)		probably benign	Het
Mgst1	G	A	6: 138,133,243 (GRCm39)	G186D	probably damaging	Het
Mrc1	C	T	2: 14,299,630 (GRCm39)	A740V	probably damaging	Het
Mroh2a	G	A	1: 88,171,672 (GRCm39)	R770Q	probably damaging	Het
Mtor	T	C	4: 148,610,503 (GRCm39)	Y1605H	possibly damaging	Het
Ncoa4	T	A	14: 31,898,509 (GRCm39)	L443Q	probably damaging	Het
Nelfa	G	A	5: 34,060,807 (GRCm39)		probably benign	Het
Nepn	T	A	10: 52,277,353 (GRCm39)	L363Q	probably damaging	Het
Nfat5	A	G	8: 108,092,927 (GRCm39)	T630A	possibly damaging	Het
Nipal4	A	T	11: 46,041,211 (GRCm39)	V328E	probably benign	Het
Or2y1e	T	A	11: 49,218,575 (GRCm39)	S112R	possibly damaging	Het
Or4c122	A	T	2: 89,079,469 (GRCm39)	C178S	probably damaging	Het
Or4d2b	A	T	11: 87,780,053 (GRCm39)	V223E	possibly damaging	Het
Or6c76	T	A	10: 129,612,131 (GRCm39)	M116K	probably damaging	Het
Or8d2	T	A	9: 38,759,909 (GRCm39)	C166*	probably null	Het
Otogl	A	T	10: 107,652,931 (GRCm39)	N1140K	probably damaging	Het
Ppip5k2	A	C	1: 97,680,465 (GRCm39)	Y236*	probably null	Het
Prelid1	C	T	13: 55,472,156 (GRCm39)	R111*	probably null	Het
Prpf8	T	C	11: 75,394,270 (GRCm39)	L1771P	probably damaging	Het
Ptprb	A	T	10: 116,138,230 (GRCm39)	Y378F	possibly damaging	Het
Ptprb	A	G	10: 116,138,283 (GRCm39)	T396A	possibly damaging	Het
Rab3il1	T	C	19: 10,005,728 (GRCm39)	L174P	probably damaging	Het
Rab4a	T	C	8: 124,550,574 (GRCm39)	V18A	possibly damaging	Het
Scn3a	T	A	2: 65,302,628 (GRCm39)	M1273L	possibly damaging	Het
Sdhc	A	T	1: 170,957,413 (GRCm39)	V156E	probably benign	Het
Slco3a1	T	C	7: 73,996,382 (GRCm39)		probably benign	Het
Syne3	T	C	12: 104,924,371 (GRCm39)	T343A	probably benign	Het
Syt11	A	G	3: 88,669,776 (GRCm39)	C39R	probably damaging	Het
Tll2	G	T	19: 41,093,429 (GRCm39)	D462E	probably damaging	Het
Tmem132e	T	A	11: 82,329,164 (GRCm39)	V481D	probably damaging	Het
Tmem161b	C	T	13: 84,399,439 (GRCm39)	L17F	probably damaging	Het
Vmn2r105	T	A	17: 20,428,578 (GRCm39)	I833F	probably damaging	Het
Vstm2a	A	T	11: 16,213,140 (GRCm39)	N175I	probably damaging	Het
Xpnpep1	G	T	19: 52,994,784 (GRCm39)	D238E	probably damaging	Het
Zfp112	G	A	7: 23,826,453 (GRCm39)	G807D	probably benign	Het
Zfp518b	A	T	5: 38,830,946 (GRCm39)	V353E	probably damaging	Het
Zfp69	T	C	4: 120,791,544 (GRCm39)	E39G	probably benign	Het
Zfp865	A	G	7: 5,032,090 (GRCm39)	H25R	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
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
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'- CAATGAGCCAGCATGAGGATACCAG -3'
(R):5'- AGATGCCATGAACAGATCAGTAGCAC -3'

Sequencing Primer
(F):5'- CATGAGGATACCAGAATGCAAC -3'
(R):5'- TCCTGGTTCCTGGAAGATACAG -3'

Posted On

2014-07-24