Mutagenetix > Incidental Mutation

Incidental Mutation 'R6791:Orm2'

532574

Institutional Source

Beutler Lab

Gene Symbol

Orm2

Ensembl Gene

ENSMUSG00000061540

Gene Name

orosomucoid 2

Synonyms

Orm-2

MMRRC Submission

044904-MU

Accession Numbers

Essential gene?

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

Stock #

R6791 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63280686-63284115 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 63282196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 125 (M125L)

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: M125L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000074810
Gene: ENSMUSG00000061540
AA Change: M125L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,328,504 (GRCm39)	C3526S	probably damaging	Het
Adgrf2	T	C	17: 43,021,774 (GRCm39)	N350S	probably benign	Het
Atp12a	G	A	14: 56,624,439 (GRCm39)		probably null	Het
AW551984	T	G	9: 39,511,955 (GRCm39)	S19R	probably damaging	Het
Bet1l	A	G	7: 140,434,418 (GRCm39)	I77T	possibly damaging	Het
Cfap206	T	C	4: 34,711,414 (GRCm39)	I494M	possibly damaging	Het
Cog3	A	G	14: 75,968,118 (GRCm39)	I415T	probably damaging	Het
Col15a1	C	T	4: 47,300,518 (GRCm39)	P1060S	probably damaging	Het
Ctrb1	A	G	8: 112,415,981 (GRCm39)	V71A	possibly damaging	Het
Ddhd2	T	C	8: 26,242,242 (GRCm39)	Y211C	probably benign	Het
Fbxl20	T	C	11: 98,000,336 (GRCm39)	T128A	probably benign	Het
Fdps	A	G	3: 89,002,659 (GRCm39)		probably null	Het
Gm4302	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	10: 100,177,361 (GRCm39)		probably benign	Het
Gm8369	T	A	19: 11,489,200 (GRCm39)		probably benign	Het
Grm6	T	C	11: 50,750,601 (GRCm39)	V588A	possibly damaging	Het
Heatr6	T	C	11: 83,649,167 (GRCm39)	L174S	probably benign	Het
Kif1a	G	A	1: 92,993,859 (GRCm39)	P364S	probably damaging	Het
Klk7	A	G	7: 43,462,684 (GRCm39)	D163G	probably benign	Het
Kmt2e	TGCCGCCGCCGCCGCCACCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC	5: 23,704,474 (GRCm39)		probably benign	Het
Lamb3	T	C	1: 193,017,169 (GRCm39)	S787P	possibly damaging	Het
Lrp5	C	T	19: 3,650,753 (GRCm39)	C1227Y	probably damaging	Het
Mgst1	G	A	6: 138,118,805 (GRCm39)		probably benign	Het
Mllt6	T	C	11: 97,571,428 (GRCm39)	S1022P	probably damaging	Het
Mtmr2	T	C	9: 13,716,678 (GRCm39)	I521T	probably benign	Het
Naalad2	T	C	9: 18,296,426 (GRCm39)	T75A	possibly damaging	Het
Nadsyn1	A	T	7: 143,372,845 (GRCm39)	I83N	probably damaging	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Neurl4	T	A	11: 69,799,336 (GRCm39)	L904Q	probably damaging	Het
Ngp	A	C	9: 110,249,017 (GRCm39)	I30L	probably benign	Het
Or5af1	T	C	11: 58,722,903 (GRCm39)	Y308H	probably benign	Het
Or6c5c	G	A	10: 129,299,023 (GRCm39)	M159I	probably benign	Het
Pax2	A	T	19: 44,777,260 (GRCm39)	D151V	possibly damaging	Het
Polg	A	G	7: 79,109,857 (GRCm39)	V382A	probably benign	Het
Ppargc1b	C	A	18: 61,440,747 (GRCm39)	G724W	probably damaging	Het
Pramel11	T	A	4: 143,622,252 (GRCm39)	I368F	probably benign	Het
Prss16	A	T	13: 22,190,237 (GRCm39)	V307E	probably damaging	Het
Prss54	T	G	8: 96,291,283 (GRCm39)		probably null	Het
Rspo1	A	G	4: 124,900,976 (GRCm39)	H108R	probably benign	Het
Sh3bp5l	C	A	11: 58,237,098 (GRCm39)	H352N	probably damaging	Het
Skor1	T	C	9: 63,047,636 (GRCm39)		probably null	Het
Smad6	A	G	9: 63,919,509 (GRCm39)	Y289H	probably benign	Het
Spart	G	A	3: 55,034,982 (GRCm39)	G456D	probably damaging	Het
Spg11	T	C	2: 121,923,924 (GRCm39)	E799G	probably damaging	Het
Tbc1d4	T	G	14: 101,845,695 (GRCm39)	K68Q	probably damaging	Het
Treml2	A	G	17: 48,616,247 (GRCm39)	M296V	probably benign	Het
Ugt2b1	C	A	5: 87,067,116 (GRCm39)	D436Y	probably damaging	Het
Usp9y	A	T	Y: 1,325,042 (GRCm39)		probably null	Homo
Vmn2r6	T	C	3: 64,445,580 (GRCm39)	Y626C	probably damaging	Het
Xpc	G	A	6: 91,483,839 (GRCm39)	A169V	probably benign	Het
Zfp131	A	G	13: 120,228,129 (GRCm39)	V506A	probably damaging	Het
Zfp74	A	G	7: 29,633,860 (GRCm39)	I616T	probably benign	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
IGL02401:Orm2	APN	4	63,281,568 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CAACAGAGGCTGAGCACATG -3'
(R):5'- TGTGTGACAGCCTTCTGGAATAC -3'

Sequencing Primer
(F):5'- ACATGGCAGCCACAGGG -3'
(R):5'- GGAATACTTCCCGCAGCTC -3'

Posted On

2018-08-29