Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02401:Orm2'

291874

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Orm2

Ensembl Gene

ENSMUSG00000061540

Gene Name

orosomucoid 2

Synonyms

Orm-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

IGL02401

Quality Score

Status

Chromosome

Chromosomal Location

63280686-63284115 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 63281568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 100 (I100L)

Ref Sequence

ENSEMBL: ENSMUSP00000074810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006687] [ENSMUST00000035724] [ENSMUST00000075341]

AlphaFold

P07361

Predicted Effect

probably benign
Transcript: ENSMUST00000006687

SMART Domains

Protein: ENSMUSP00000006687
Gene: ENSMUSG00000028359

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Lipocalin	40	180	4.8e-25	PFAM
low complexity region	185	199	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000035724

SMART Domains

Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158

Domain	Start	End	E-Value	Type
low complexity region	140	153	N/A	INTRINSIC
coiled coil region	423	458	N/A	INTRINSIC
Pfam:AKNA	584	681	4.6e-37	PFAM
low complexity region	760	774	N/A	INTRINSIC
low complexity region	1015	1029	N/A	INTRINSIC
coiled coil region	1044	1066	N/A	INTRINSIC
low complexity region	1296	1317	N/A	INTRINSIC
low complexity region	1319	1343	N/A	INTRINSIC
coiled coil region	1353	1386	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000075341
AA Change: I100L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074810
Gene: ENSMUSG00000061540
AA Change: I100L

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Lipocalin	41	181	1.5e-23	PFAM
low complexity region	186	200	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef18	C	T	8: 3,487,078 (GRCm39)	R266C	probably damaging	Het
Asb11	A	T	X: 163,241,753 (GRCm39)		probably benign	Het
Cnot1	G	A	8: 96,482,761 (GRCm39)	T764M	possibly damaging	Het
Galns	A	G	8: 123,331,938 (GRCm39)	M59T	probably damaging	Het
Gm5884	A	G	6: 128,622,377 (GRCm39)		noncoding transcript	Het
Gm9312	A	C	12: 24,302,106 (GRCm39)		noncoding transcript	Het
Lama3	T	C	18: 12,690,784 (GRCm39)	F1268S	probably benign	Het
Lrp5	A	G	19: 3,643,585 (GRCm39)	C1347R	probably damaging	Het
Lrrfip1	T	C	1: 91,042,650 (GRCm39)	S352P	probably benign	Het
Mcfd2	T	C	17: 87,564,592 (GRCm39)	T97A	probably damaging	Het
Mroh2b	A	G	15: 4,929,983 (GRCm39)	N23S	possibly damaging	Het
Nr1i3	A	T	1: 171,043,942 (GRCm39)		probably benign	Het
Or4c10b	T	C	2: 89,711,797 (GRCm39)	F209S	probably damaging	Het
Or8b48	C	T	9: 38,492,651 (GRCm39)	P26L	probably damaging	Het
Pbsn	A	G	X: 76,886,129 (GRCm39)	M126T	probably benign	Het
Rpgr	G	T	X: 10,024,956 (GRCm39)	T1026K	possibly damaging	Het
Sdhaf3	C	T	6: 7,038,855 (GRCm39)	T59M	probably benign	Het
Shq1	T	C	6: 100,625,208 (GRCm39)	Y217C	probably damaging	Het
Slc17a8	A	T	10: 89,412,522 (GRCm39)		probably null	Het
Slc6a19	A	G	13: 73,848,709 (GRCm39)	I15T	probably damaging	Het
Smarcd3	A	T	5: 24,798,717 (GRCm39)	V335E	probably damaging	Het
Sugp2	A	G	8: 70,695,821 (GRCm39)	T265A	possibly damaging	Het
Tfrc	T	G	16: 32,435,999 (GRCm39)	S225R	probably damaging	Het
Vsig10l	T	A	7: 43,113,468 (GRCm39)	L140Q	probably damaging	Het
Zbtb46	T	A	2: 181,065,245 (GRCm39)	T302S	probably benign	Het
Znhit1	T	C	5: 137,011,513 (GRCm39)	Y105C	probably damaging	Het

Other mutations in Orm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00933:Orm2	APN	4	63,282,389 (GRCm39)	splice site	probably benign
IGL01369:Orm2	APN	4	63,281,215 (GRCm39)	missense	probably benign	0.00
IGL02321:Orm2	APN	4	63,281,229 (GRCm39)	missense	probably damaging	0.99
IGL02666:Orm2	APN	4	63,283,970 (GRCm39)	missense	possibly damaging	0.91
G1Funyon:Orm2	UTSW	4	63,281,263 (GRCm39)	missense	possibly damaging	0.80
R0383:Orm2	UTSW	4	63,282,233 (GRCm39)	missense	probably damaging	1.00
R4157:Orm2	UTSW	4	63,282,222 (GRCm39)	missense	probably null	0.92
R4615:Orm2	UTSW	4	63,281,536 (GRCm39)	missense	probably damaging	0.99
R6363:Orm2	UTSW	4	63,280,841 (GRCm39)	critical splice donor site	probably null
R6791:Orm2	UTSW	4	63,282,196 (GRCm39)	missense	probably benign	0.00
R8301:Orm2	UTSW	4	63,281,263 (GRCm39)	missense	possibly damaging	0.80
X0024:Orm2	UTSW	4	63,282,434 (GRCm39)	missense	probably benign	0.28

Posted On

2015-04-16