Mutagenetix > Incidental Mutation

Incidental Mutation 'R8839:Or10ak14'

674307

Institutional Source

Beutler Lab

Gene Symbol

Or10ak14

Ensembl Gene

ENSMUSG00000095218

Gene Name

olfactory receptor family 10 subfamily AK member 14

Synonyms

GA_x6K02T2QD9B-18795136-18796077, MOR259-4P, MOR259-9, Olfr1338, MOR259-4P, Olfr1524-ps1

MMRRC Submission

068667-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.778) question?

Stock #

R8839 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118610386-118614155 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118611411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 110 (L110P)

Ref Sequence

ENSEMBL: ENSMUSP00000149448 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084315] [ENSMUST00000214922] [ENSMUST00000216559]

AlphaFold

A0A1L1SSB4

Predicted Effect

probably damaging
Transcript: ENSMUST00000084315
AA Change: L108P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092427
Gene: ENSMUSG00000095218
AA Change: L108P

Domain	Start	End	E-Value	Type
Pfam:7tm_4	32	308	3.3e-55	PFAM
Pfam:7TM_GPCR_Srsx	36	306	1e-8	PFAM
Pfam:7tm_1	42	291	1.8e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000214922
AA Change: L110P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216559
AA Change: L110P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (51/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	T	C	11: 105,889,194 (GRCm39)	Y475H	probably damaging	Het
Ankfy1	T	C	11: 72,621,392 (GRCm39)	I226T	probably benign	Het
Anln	G	A	9: 22,267,468 (GRCm39)	S825L	probably benign	Het
Aoc1l2	T	C	6: 48,907,974 (GRCm39)	Y325H	probably damaging	Het
Arb2a	A	T	13: 78,147,781 (GRCm39)	H283L	probably benign	Het
B3galt4	A	G	17: 34,169,867 (GRCm39)	S124P	possibly damaging	Het
Cabin1	T	C	10: 75,492,650 (GRCm39)	I1882V	probably benign	Het
Caprin2	A	T	6: 148,774,525 (GRCm39)	S262R	probably benign	Het
Csmd2	A	C	4: 128,336,681 (GRCm39)	I1420L		Het
Cyp2b9	T	G	7: 25,900,185 (GRCm39)	V331G	probably damaging	Het
Cyp3a59	A	T	5: 146,045,896 (GRCm39)	M433L	probably benign	Het
Edrf1	A	G	7: 133,255,644 (GRCm39)	D597G	probably benign	Het
Emc3	G	A	6: 113,496,931 (GRCm39)	R147C	possibly damaging	Het
Fkbp7	T	C	2: 76,497,581 (GRCm39)		probably benign	Het
Flii	T	C	11: 60,609,433 (GRCm39)	T665A	possibly damaging	Het
Fxr1	A	G	3: 34,100,831 (GRCm39)		probably benign	Het
Gpr37	T	G	6: 25,669,369 (GRCm39)	I492L	probably benign	Het
Hmg20b	A	C	10: 81,184,749 (GRCm39)	W108G	probably damaging	Het
Ighv9-3	G	A	12: 114,104,385 (GRCm39)	T93I	possibly damaging	Het
Inpp5a	T	C	7: 138,969,349 (GRCm39)	V15A	probably benign	Het
Inpp5d	T	A	1: 87,619,433 (GRCm39)	Y376N	probably damaging	Het
Ints6	A	G	14: 62,931,122 (GRCm39)	F854L	probably benign	Het
Ipo7	A	T	7: 109,641,223 (GRCm39)	K314N	probably damaging	Het
Ltn1	C	A	16: 87,215,390 (GRCm39)	C415F	probably damaging	Het
Mfsd9	T	C	1: 40,813,554 (GRCm39)	T254A	probably benign	Het
Musk	A	G	4: 58,286,151 (GRCm39)	T14A	probably benign	Het
Ncapd3	T	C	9: 27,005,730 (GRCm39)	V1438A		Het
Nnt	A	T	13: 119,494,173 (GRCm39)	V636D	unknown	Het
Or11h23	A	T	14: 50,947,957 (GRCm39)	T57S	possibly damaging	Het
Or52ae9	A	G	7: 103,390,021 (GRCm39)	I142T	probably benign	Het
Ost4	T	C	5: 31,064,935 (GRCm39)		probably benign	Het
Pdzph1	T	C	17: 59,257,237 (GRCm39)	T934A	probably benign	Het
Plekhn1	T	A	4: 156,307,046 (GRCm39)		probably benign	Het
Prkd1	T	C	12: 50,389,616 (GRCm39)		probably benign	Het
Ptch1	A	T	13: 63,689,038 (GRCm39)	L413Q	probably damaging	Het
S100pbp	A	G	4: 129,076,000 (GRCm39)		probably null	Het
Sec23a	T	C	12: 59,037,781 (GRCm39)	K361E	possibly damaging	Het
Sema3b	C	T	9: 107,478,552 (GRCm39)		probably benign	Het
Serpina3g	A	G	12: 104,204,038 (GRCm39)		probably benign	Het
Slc23a2	C	T	2: 131,943,392 (GRCm39)		silent	Het
Smug1	T	C	15: 103,064,247 (GRCm39)	R225G	possibly damaging	Het
Srbd1	T	A	17: 86,295,849 (GRCm39)	I854L	probably benign	Het
Tbc1d16	G	A	11: 119,047,474 (GRCm39)	R417C	probably damaging	Het
Tiam1	A	G	16: 89,681,827 (GRCm39)	Y384H	probably damaging	Het
Trappc9	T	A	15: 72,930,087 (GRCm39)	K90*	probably null	Het
Tubgcp6	A	T	15: 88,987,681 (GRCm39)	H1097Q	possibly damaging	Het
Ugt2b37	A	G	5: 87,402,415 (GRCm39)	L72P	probably damaging	Het
Vmn2r20	A	T	6: 123,373,515 (GRCm39)	H442Q	possibly damaging	Het
Vmn2r65	A	T	7: 84,595,489 (GRCm39)	Y398*	probably null	Het
Zfhx4	A	G	3: 5,466,915 (GRCm39)	T2383A	probably benign	Het

Other mutations in Or10ak14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01092:Or10ak14	APN	4	118,610,959 (GRCm39)	missense	possibly damaging	0.78
IGL02726:Or10ak14	APN	4	118,610,961 (GRCm39)	missense	probably benign	0.00
IGL02928:Or10ak14	APN	4	118,611,697 (GRCm39)	missense	probably damaging	1.00
IGL03102:Or10ak14	APN	4	118,611,131 (GRCm39)	missense	probably benign	0.00
R0062:Or10ak14	UTSW	4	118,611,100 (GRCm39)	missense	probably benign	0.00
R0062:Or10ak14	UTSW	4	118,611,100 (GRCm39)	missense	probably benign	0.00
R0299:Or10ak14	UTSW	4	118,611,732 (GRCm39)	start codon destroyed	probably null	0.82
R0501:Or10ak14	UTSW	4	118,611,027 (GRCm39)	missense	probably benign	0.00
R1301:Or10ak14	UTSW	4	118,610,816 (GRCm39)	missense	probably benign
R1719:Or10ak14	UTSW	4	118,610,797 (GRCm39)	missense	possibly damaging	0.78
R2327:Or10ak14	UTSW	4	118,611,331 (GRCm39)	missense	probably benign	0.13
R3110:Or10ak14	UTSW	4	118,611,421 (GRCm39)	missense	probably damaging	0.99
R3112:Or10ak14	UTSW	4	118,611,421 (GRCm39)	missense	probably damaging	0.99
R4582:Or10ak14	UTSW	4	118,611,090 (GRCm39)	missense	probably damaging	1.00
R4615:Or10ak14	UTSW	4	118,611,334 (GRCm39)	missense	probably benign	0.34
R5640:Or10ak14	UTSW	4	118,610,986 (GRCm39)	missense	probably benign	0.07
R6513:Or10ak14	UTSW	4	118,611,224 (GRCm39)	nonsense	probably null
R6889:Or10ak14	UTSW	4	118,611,504 (GRCm39)	missense	probably damaging	0.99
R7157:Or10ak14	UTSW	4	118,611,615 (GRCm39)	missense	possibly damaging	0.93
R7168:Or10ak14	UTSW	4	118,611,048 (GRCm39)	missense	probably damaging	0.98
R7378:Or10ak14	UTSW	4	118,611,372 (GRCm39)	missense	possibly damaging	0.74
R7451:Or10ak14	UTSW	4	118,610,884 (GRCm39)	missense	probably benign	0.03
R7770:Or10ak14	UTSW	4	118,611,254 (GRCm39)	missense	probably benign	0.04
R7847:Or10ak14	UTSW	4	118,611,565 (GRCm39)	missense	possibly damaging	0.79
R8942:Or10ak14	UTSW	4	118,611,594 (GRCm39)	missense	possibly damaging	0.94
R9274:Or10ak14	UTSW	4	118,610,883 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GAAATAGTGGTCAACCCTTTTGG -3'
(R):5'- TCATCATGCTGGTCTGCCTG -3'

Sequencing Primer
(F):5'- CCACAATATGGCAGACTCATGGTG -3'
(R):5'- TGGTCTGCCTGGACACACAG -3'

Posted On

2021-07-15