Mutagenetix > Incidental Mutation

Incidental Mutation 'R4184:Or11h4b'

319881

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

041020-MU

Accession Numbers

Essential gene?

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

Stock #

R4184 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50918148-50919102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 50918507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glutamine at position 195 (E195Q)

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: E195Q

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000077220
Gene: ENSMUSG00000057179
AA Change: E195Q

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: E195Q

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000205897

Predicted Effect

probably benign
Transcript: ENSMUST00000213238
AA Change: E195Q

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.1028

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

95% (55/58)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	A	T	7: 143,447,858 (GRCm39)	K234*	probably null	Het
Ccdc178	A	G	18: 22,157,841 (GRCm39)	L539P	probably damaging	Het
Cd5	T	A	19: 10,698,638 (GRCm39)	N423I	probably damaging	Het
Ceacam20	C	T	7: 19,710,041 (GRCm39)	T355I	probably damaging	Het
Chil4	G	A	3: 106,111,043 (GRCm39)	P284S	possibly damaging	Het
Cln8	T	C	8: 14,945,030 (GRCm39)	F115L	probably benign	Het
Cpne9	T	A	6: 113,259,418 (GRCm39)		probably benign	Het
Cyp4a32	C	T	4: 115,478,720 (GRCm39)	T484I	possibly damaging	Het
Des	C	G	1: 75,339,228 (GRCm39)	A251G	probably benign	Het
Dnah3	T	C	7: 119,682,516 (GRCm39)	D270G	probably damaging	Het
Epc1	T	C	18: 6,453,578 (GRCm39)	E249G	possibly damaging	Het
Fsbp	T	A	4: 11,584,058 (GRCm39)	N252K	probably benign	Het
Gramd1a	C	A	7: 30,831,940 (GRCm39)		probably benign	Het
Grsf1	G	A	5: 88,812,015 (GRCm39)	P271S	probably benign	Het
Igsf10	C	T	3: 59,227,152 (GRCm39)	V2174M	probably damaging	Het
Kcnu1	T	C	8: 26,352,445 (GRCm39)	L204P	probably damaging	Het
Kdm7a	T	C	6: 39,125,911 (GRCm39)	E628G	probably benign	Het
Klhl36	T	C	8: 120,601,124 (GRCm39)	M381T	probably damaging	Het
Kpna3	A	T	14: 61,605,624 (GRCm39)	Y474N	probably damaging	Het
Lsm8	G	T	6: 18,849,604 (GRCm39)		probably benign	Het
Mapk8	T	C	14: 33,104,177 (GRCm39)	D413G	probably damaging	Het
Mbd2	T	A	18: 70,751,050 (GRCm39)	C362S	probably damaging	Het
Mex3b	A	G	7: 82,519,238 (GRCm39)	R518G	probably benign	Het
Mical1	T	C	10: 41,357,866 (GRCm39)		probably benign	Het
Myo18a	T	C	11: 77,748,613 (GRCm39)	S1996P	probably damaging	Het
Or11g7	A	G	14: 50,690,827 (GRCm39)	Y106C	probably damaging	Het
Or1o2	T	G	17: 37,542,739 (GRCm39)	H174P	possibly damaging	Het
Otop2	T	A	11: 115,220,671 (GRCm39)	C504S	probably benign	Het
Pkhd1	T	A	1: 20,279,501 (GRCm39)	H2939L	probably benign	Het
Pkhd1	C	T	1: 20,633,910 (GRCm39)	V542M	probably benign	Het
Pkhd1l1	C	T	15: 44,455,302 (GRCm39)	T4021I	probably benign	Het
Prr36	T	C	8: 4,263,409 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,813,650 (GRCm39)	Y517F	probably damaging	Het
Pth1r	A	G	9: 110,571,300 (GRCm39)	M1T	probably null	Het
Rdx	C	A	9: 51,978,680 (GRCm39)	L163M	probably damaging	Het
Reep6	A	G	10: 80,169,648 (GRCm39)	Y112C	probably damaging	Het
Rpp21	A	G	17: 36,568,611 (GRCm39)		probably benign	Het
Sacs	T	A	14: 61,451,393 (GRCm39)	C4480S	probably damaging	Het
Slc15a1	G	A	14: 121,703,574 (GRCm39)	T512I	probably benign	Het
Slc22a22	A	T	15: 57,119,962 (GRCm39)	C170*	probably null	Het
Slc26a2	C	T	18: 61,331,904 (GRCm39)	R509K	probably benign	Het
Slc4a10	A	G	2: 62,147,786 (GRCm39)		probably benign	Het
Stc1	A	T	14: 69,266,834 (GRCm39)		probably benign	Het
Tbc1d32	T	A	10: 56,100,676 (GRCm39)	T101S	probably benign	Het
Tsc2	T	C	17: 24,850,990 (GRCm39)	T23A	probably benign	Het
Vmn1r52	T	G	6: 90,156,219 (GRCm39)	F174L	probably benign	Het
Zfp972	G	A	2: 177,563,250 (GRCm39)	Q56*	probably null	Het
Zfp982	A	G	4: 147,597,150 (GRCm39)	K169R	probably benign	Het
Zfpl1	A	G	19: 6,131,170 (GRCm39)	L274P	probably 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
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'- CTGTCCCATAGAAGAGTGACACC -3'
(R):5'- ATAGGTACCTGGCCATTTGC -3'

Sequencing Primer
(F):5'- GTGACACCACAACTAAATGGG -3'
(R):5'- CCTACTATCATGACTAGGAGGCTG -3'

Posted On

2015-06-10