Mutagenetix > Incidental Mutation

Incidental Mutation 'R6904:Olfr1224-ps1'

538669

Institutional Source

Beutler Lab

Gene Symbol

Olfr1224-ps1

Ensembl Gene

ENSMUSG00000075099

Gene Name

olfactory receptor 1224, pseudogene 1

Synonyms

GA_x6K02T2Q125-50635980-50635046, MOR233-15

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R6904 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89155336-89164091 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 89156813 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 121 (R121C)

Ref Sequence

ENSEMBL: ENSMUSP00000148938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099792] [ENSMUST00000099793] [ENSMUST00000216833] [ENSMUST00000216976]

AlphaFold

A3KGY4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099792
AA Change: R121C

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097380
Gene: ENSMUSG00000075099
AA Change: R121C

Domain	Start	End	E-Value	Type
Pfam:7tm_4	29	303	1.1e-48	PFAM
Pfam:7tm_1	39	287	9.9e-17	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099793
AA Change: R121C

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097381
Gene: ENSMUSG00000075099
AA Change: R121C

Domain	Start	End	E-Value	Type
Pfam:7tm_1	39	286	2e-26	PFAM
Pfam:7tm_4	138	283	5.6e-37	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216833
AA Change: R121C

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216976
AA Change: R121C

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,626,092	Y406*	probably null	Het
9530053A07Rik	C	T	7: 28,137,213	R186C	probably damaging	Het
Acadvl	T	C	11: 70,014,333	D109G	probably benign	Het
Adam24	G	A	8: 40,681,503	G670E	probably damaging	Het
Angpt1	T	C	15: 42,459,740	M378V	probably benign	Het
Ankrd33	G	A	15: 101,117,112		probably null	Het
Apol7b	G	A	15: 77,423,425	T290I	probably benign	Het
Atg4a-ps	A	G	3: 103,645,864	W54R	probably damaging	Het
B3glct	A	G	5: 149,739,604		probably null	Het
Bmp7	A	G	2: 172,872,913	S368P	probably damaging	Het
Boc	A	G	16: 44,491,791	V636A	probably damaging	Het
Cacna1i	G	A	15: 80,374,801	R1237H	probably damaging	Het
Cdcp1	T	C	9: 123,173,915	D697G	probably benign	Het
Cep85l	T	C	10: 53,349,098	T132A	probably benign	Het
Ces1b	T	A	8: 93,060,410	Y447F	probably damaging	Het
Cntn4	A	T	6: 106,697,583	T1015S	probably benign	Het
Eea1	T	G	10: 96,002,879		probably null	Het
Gm12800	G	A	4: 101,910,094	C180Y	possibly damaging	Het
Gm4788	T	G	1: 139,731,653	N642H	possibly damaging	Het
Hipk1	A	T	3: 103,777,512	N262K	possibly damaging	Het
Jmjd8	G	A	17: 25,829,052	R41H	possibly damaging	Het
Klhl3	T	A	13: 58,030,445	T344S	probably damaging	Het
Krt39	T	C	11: 99,519,821	D175G	probably damaging	Het
Map4k1	A	G	7: 28,986,802	Y81C	probably damaging	Het
Mpdu1	T	A	11: 69,658,585	T95S	probably benign	Het
Myl12b	A	T	17: 70,977,140	I31N	probably damaging	Het
Ndufaf5	T	A	2: 140,188,780	Y195*	probably null	Het
Olfr1141	A	G	2: 87,753,879	V38A	probably benign	Het
Olfr617	T	A	7: 103,584,520	I166N	possibly damaging	Het
Olfr621-ps1	A	T	7: 103,629,583	F126I	probably benign	Het
Olfr984	T	C	9: 40,101,356	I45V	probably benign	Het
Oxgr1	T	A	14: 120,022,019	I259F	possibly damaging	Het
Pcdhb9	T	A	18: 37,401,917	D321E	probably benign	Het
Pi4kb	G	T	3: 94,993,150	R392L	probably damaging	Het
Prss41	T	C	17: 23,837,648	K151R	probably benign	Het
Rev3l	T	A	10: 39,821,481	V658D	probably benign	Het
Snx4	A	G	16: 33,294,738	I430V	probably damaging	Het
Tanc2	C	T	11: 105,835,230	H407Y	possibly damaging	Het
Tcf25	G	A	8: 123,400,698		probably null	Het
Tsc22d1	A	T	14: 76,506,483	K24*	probably null	Het
Vmn2r30	A	G	7: 7,312,548	F762S	probably damaging	Het
Xrcc6	A	G	15: 82,029,122	T319A	probably benign	Het
Zbtb1	C	T	12: 76,386,211	R324*	probably null	Het
Zc3h7a	A	G	16: 11,145,671	Y729H	probably damaging	Het
Zfp329	C	A	7: 12,806,530		probably benign	Het
Zfp456	A	T	13: 67,366,265	S441T	probably benign	Het

Other mutations in Olfr1224-ps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01670:Olfr1224-ps1	APN	2	89156917	missense	probably benign	0.01
IGL02561:Olfr1224-ps1	APN	2	89157141	missense	possibly damaging	0.94
R0086:Olfr1224-ps1	UTSW	2	89156476	missense	probably benign	0.01
R0096:Olfr1224-ps1	UTSW	2	89156296	missense	probably benign	0.03
R0096:Olfr1224-ps1	UTSW	2	89156296	missense	probably benign	0.03
R0783:Olfr1224-ps1	UTSW	2	89156891	missense	probably benign	0.30
R1920:Olfr1224-ps1	UTSW	2	89156581	missense	probably benign	0.44
R1921:Olfr1224-ps1	UTSW	2	89156581	missense	probably benign	0.44
R2033:Olfr1224-ps1	UTSW	2	89157154	missense	probably damaging	0.96
R3500:Olfr1224-ps1	UTSW	2	89157059	missense	probably damaging	1.00
R5044:Olfr1224-ps1	UTSW	2	89156939	nonsense	probably null
R5140:Olfr1224-ps1	UTSW	2	89157107	missense	probably benign	0.12
R5253:Olfr1224-ps1	UTSW	2	89156457	nonsense	probably null
R6338:Olfr1224-ps1	UTSW	2	89156371	missense	probably damaging	1.00
R6431:Olfr1224-ps1	UTSW	2	89157161	missense	probably damaging	1.00
R7259:Olfr1224-ps1	UTSW	2	89156510	missense	probably benign	0.03
R7820:Olfr1224-ps1	UTSW	2	89156248	missense	probably benign	0.08
R9026:Olfr1224-ps1	UTSW	2	89156644	missense	probably benign	0.22
R9076:Olfr1224-ps1	UTSW	2	89156375	missense	possibly damaging	0.95
R9266:Olfr1224-ps1	UTSW	2	89156510	missense	possibly damaging	0.70
R9378:Olfr1224-ps1	UTSW	2	89157055	missense	probably damaging	1.00
R9580:Olfr1224-ps1	UTSW	2	89157121	missense	probably benign	0.20
R9751:Olfr1224-ps1	UTSW	2	89156438	missense	possibly damaging	0.91
Z1176:Olfr1224-ps1	UTSW	2	89156467	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGTATTGGTGCAGGCAAGC -3'
(R):5'- GGTAACAATTGTATTCAGTCCTGCAC -3'

Sequencing Primer
(F):5'- TGCAGGCAAGCTTTAGTAATGG -3'
(R):5'- GTATTCAGTCCTGCACTTTCTGG -3'

Posted On

2018-11-06