Mutagenetix > Incidental Mutation

Incidental Mutation 'R9751:Olfr1224-ps1'

732499

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 #

R9751 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89155336-89164091 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89156438 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 246 (V246M)

Ref Sequence

ENSEMBL: ENSMUSP00000148938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099792] [ENSMUST00000099793] [ENSMUST00000216833] [ENSMUST00000216976] [ENSMUST00000217342]

AlphaFold

A3KGY4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099792
AA Change: V246M

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097380
Gene: ENSMUSG00000075099
AA Change: V246M

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: V246M

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097381
Gene: ENSMUSG00000075099
AA Change: V246M

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: V246M

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000216976
AA Change: V246M

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000217342

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,011,740	I54M		Het
Abca4	A	G	3: 122,087,477	N514D	probably benign	Het
Adgre1	G	A	17: 57,450,101	R786H	probably null	Het
Ankrd7	G	A	6: 18,868,025	V97I	probably damaging	Het
Bmper	C	T	9: 23,406,713	P543S	possibly damaging	Het
Brwd1	A	T	16: 95,993,815	M2233K	possibly damaging	Het
C1s2	G	T	6: 124,625,594	P553T	probably damaging	Het
Cachd1	G	A	4: 100,966,241	V497I	possibly damaging	Het
Cacng4	A	G	11: 107,735,193	S191P	probably damaging	Het
Cd109	C	A	9: 78,698,160	T1015K	probably damaging	Het
Clstn2	A	G	9: 97,457,650	L756P	probably damaging	Het
Crybg3	A	T	16: 59,557,524	D1122E	possibly damaging	Het
Csf2	A	T	11: 54,249,594	L6*	probably null	Het
Csnk1g2	T	A	10: 80,637,911	Y71N	possibly damaging	Het
Dlg2	C	A	7: 90,915,523	H116N	probably benign	Het
Dnah14	C	T	1: 181,792,045	S3978L	probably damaging	Het
Dpp8	C	T	9: 65,053,171	T328I	probably null	Het
Dysf	T	C	6: 84,186,468	V1625A	probably damaging	Het
Egf	C	A	3: 129,754,889	V26F	probably damaging	Het
Fam126a	C	T	5: 23,991,750	E47K	probably benign	Het
Fam20a	T	A	11: 109,675,166	Y414F	probably damaging	Het
Fsip2	T	C	2: 82,987,897	I4658T	probably benign	Het
Gm11639	G	A	11: 104,893,085	G2754E	probably benign	Het
Gm21319	T	C	12: 87,773,756	N11S	possibly damaging	Het
Igflr1	A	T	7: 30,567,228	Q167L	possibly damaging	Het
Krt79	T	G	15: 101,930,761	E424D	probably benign	Het
Map3k6	A	G	4: 133,251,857		probably null	Het
Mcpt4	A	G	14: 56,060,054	I215T	probably damaging	Het
Med13	T	C	11: 86,299,158	Y975C	probably damaging	Het
Meioc	T	A	11: 102,675,593	Y678*	probably null	Het
Myof	T	C	19: 37,936,370	T1190A	probably benign	Het
Nap1l4	A	C	7: 143,534,395		probably benign	Het
Ncapg	T	C	5: 45,693,853	V796A	probably damaging	Het
Olfr1167	T	A	2: 88,149,270	I250L	probably benign	Het
Olfr1168	T	A	2: 88,184,916	V13E	possibly damaging	Het
Olfr1257	C	T	2: 89,881,612	T262I	probably benign	Het
Olfr493	T	C	7: 108,346,438	Y181C	probably benign	Het
Paxbp1	A	G	16: 91,027,300	S515P	probably benign	Het
Plce1	C	T	19: 38,728,970	S1401F	probably damaging	Het
Rptor	A	G	11: 119,887,138	K1043E	probably benign	Het
Rtn4rl2	T	G	2: 84,880,695	N75T	probably damaging	Het
Slc35f4	A	G	14: 49,298,834	I448T	possibly damaging	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649		probably benign	Het
Tas2r115	A	G	6: 132,737,955	I11T	possibly damaging	Het
Tbc1d5	A	G	17: 50,874,652	V351A	possibly damaging	Het
Tmem55b	A	G	14: 50,927,979	V257A	probably benign	Het
Trim43b	A	T	9: 89,089,517	D195E	probably benign	Het
Trim65	C	A	11: 116,130,738	A90S	probably benign	Het
Trip11	C	T	12: 101,884,506	V1100I	possibly damaging	Het
Tyrp1	A	G	4: 80,840,775	E295G	probably null	Het
Ube2g2	G	A	10: 77,644,473	V138I	probably benign	Het
Wdr60	T	A	12: 116,241,783		probably null	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
R6904:Olfr1224-ps1	UTSW	2	89156813	missense	possibly damaging	0.57
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
Z1176:Olfr1224-ps1	UTSW	2	89156467	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGGATCGGAAATTTACATCAAG -3'
(R):5'- GCTTGCCTGCACCAATACAC -3'

Sequencing Primer
(F):5'- ACAAATTGAGCCATTTCCCTGG -3'
(R):5'- GCCTGCACCAATACACACATTTTTG -3'

Posted On

2022-11-14