Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02657:Olfml2b'

302397

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Olfml2b

Ensembl Gene

ENSMUSG00000038463

Gene Name

olfactomedin-like 2B

Synonyms

photomedin-2, 1110018N05Rik, 4832415H08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02657

Quality Score

Status

Chromosome

Chromosomal Location

170644532-170682789 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 170681076 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 501 (T501I)

Ref Sequence

ENSEMBL: ENSMUSP00000047291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046792]

AlphaFold

Q3V1G4

Predicted Effect

probably benign
Transcript: ENSMUST00000046792
AA Change: T501I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000047291
Gene: ENSMUSG00000038463
AA Change: T501I

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
coiled coil region	41	68	N/A	INTRINSIC
coiled coil region	179	213	N/A	INTRINSIC
low complexity region	233	238	N/A	INTRINSIC
Blast:OLF	254	306	1e-6	BLAST
low complexity region	308	319	N/A	INTRINSIC
low complexity region	343	382	N/A	INTRINSIC
OLF	492	746	4.76e-61	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an olfactomedin domain-containing protein. Most olfactomedin domain-containing proteins are secreted glycoproteins. [provided by RefSeq, Dec 2016]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afmid	G	A	11: 117,834,822	V120M	possibly damaging	Het
Aldh1l1	T	C	6: 90,590,794	L680P	probably damaging	Het
Alox12	A	T	11: 70,247,278	D410E	probably benign	Het
Amt	T	A	9: 108,301,380	V365E	probably damaging	Het
Ano9	A	G	7: 141,107,440	S321P	probably damaging	Het
Atp2c2	A	T	8: 119,753,032	I767F	probably damaging	Het
Bag1	A	T	4: 40,936,643	Y338N	probably benign	Het
Bcr	T	A	10: 75,154,964	D767E	probably benign	Het
Chfr	A	T	5: 110,154,839	Q350L	probably damaging	Het
Cops3	A	T	11: 59,830,217	L124H	probably damaging	Het
Ddx60	T	C	8: 61,984,115	Y988H	probably benign	Het
Dnajc2	A	T	5: 21,770,481		probably benign	Het
Dym	C	T	18: 75,082,456	Q238*	probably null	Het
Fam126b	A	T	1: 58,535,402	W327R	probably damaging	Het
Fbn1	A	T	2: 125,352,025	C1341S	possibly damaging	Het
Fryl	G	T	5: 73,054,860	N2308K	probably benign	Het
Gbp2b	G	T	3: 142,604,112	R221L	probably damaging	Het
Gm4070	T	C	7: 105,896,765	K2360R	probably damaging	Het
Gpat2	A	G	2: 127,427,331	N8S	probably benign	Het
Ift52	A	G	2: 163,045,215	D379G	probably damaging	Het
Inhbe	C	A	10: 127,350,776	L178F	probably damaging	Het
Ipo5	T	C	14: 120,943,800	Y913H	possibly damaging	Het
Kif21b	T	A	1: 136,172,230	D1507E	possibly damaging	Het
Lnx2	A	G	5: 147,028,174	V413A	probably damaging	Het
Lrrc40	C	A	3: 158,036,773	F16L	probably damaging	Het
Magi2	A	G	5: 19,227,583	K99E	probably damaging	Het
Me3	A	G	7: 89,846,253	I357M	probably benign	Het
Med30	A	G	15: 52,719,365	Y66C	probably benign	Het
Mief2	A	T	11: 60,730,957	S118C	probably damaging	Het
Mylip	A	G	13: 45,391,246	S49G	probably benign	Het
Ncoa7	T	A	10: 30,652,976	D107V	probably damaging	Het
Nvl	C	A	1: 181,106,976	V655F	probably damaging	Het
Ormdl2	T	C	10: 128,820,317	I40V	probably benign	Het
Pde6b	G	T	5: 108,420,276		probably benign	Het
Ralgapa1	A	C	12: 55,673,507	L1785W	probably damaging	Het
Rnf112	A	T	11: 61,450,252		probably null	Het
Sema3c	T	A	5: 17,662,974	Y128N	probably damaging	Het
Sema3c	A	T	5: 17,576,868	M1L	possibly damaging	Het
Sema4b	G	A	7: 80,217,041	G255D	probably damaging	Het
Setd1a	C	T	7: 127,795,825		probably benign	Het
Sirpb1a	A	C	3: 15,417,051	S72R	possibly damaging	Het
Slu7	T	A	11: 43,442,022		probably null	Het
Spata19	T	C	9: 27,397,980	V59A	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Suclg1	T	A	6: 73,260,521	V83E	probably damaging	Het
Syncrip	G	T	9: 88,456,404	R536S	probably benign	Het
Tap2	T	C	17: 34,205,458	V55A	probably damaging	Het
Tekt4	T	C	17: 25,473,758	I186T	possibly damaging	Het
Trpc6	C	A	9: 8,643,601	D462E	possibly damaging	Het
Ubqln3	T	G	7: 104,141,963	T307P	probably damaging	Het
Vmn1r64	A	T	7: 5,883,728	I272K	probably benign	Het
Xpr1	T	C	1: 155,290,280	T574A	probably benign	Het
Zfc3h1	A	G	10: 115,411,954	T1021A	possibly damaging	Het
Zfp512	A	T	5: 31,471,157	H159L	probably damaging	Het

Other mutations in Olfml2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Olfml2b	APN	1	170669066	missense	probably damaging	0.96
IGL01871:Olfml2b	APN	1	170662355	splice site	probably benign
IGL02475:Olfml2b	APN	1	170682174	missense	probably damaging	1.00
IGL03375:Olfml2b	APN	1	170649832	missense	probably benign	0.35
PIT4280001:Olfml2b	UTSW	1	170647736	missense	probably damaging	1.00
R0040:Olfml2b	UTSW	1	170668751	missense	probably benign	0.00
R0194:Olfml2b	UTSW	1	170681115	missense	possibly damaging	0.89
R0834:Olfml2b	UTSW	1	170647844	missense	probably benign	0.00
R1218:Olfml2b	UTSW	1	170649782	missense	probably damaging	1.00
R1386:Olfml2b	UTSW	1	170681162	missense	probably damaging	0.97
R1420:Olfml2b	UTSW	1	170669027	missense	probably benign	0.01
R1699:Olfml2b	UTSW	1	170645073	missense	possibly damaging	0.89
R1730:Olfml2b	UTSW	1	170681789	missense	probably damaging	1.00
R1755:Olfml2b	UTSW	1	170681777	missense	probably damaging	1.00
R1869:Olfml2b	UTSW	1	170669243	missense	probably damaging	0.96
R2295:Olfml2b	UTSW	1	170662538	splice site	probably benign
R2394:Olfml2b	UTSW	1	170649750	missense	possibly damaging	0.82
R3784:Olfml2b	UTSW	1	170681982	missense	probably damaging	0.96
R4523:Olfml2b	UTSW	1	170669222	missense	probably benign
R4611:Olfml2b	UTSW	1	170644947	missense	probably damaging	0.99
R4900:Olfml2b	UTSW	1	170662378	missense	probably damaging	1.00
R5201:Olfml2b	UTSW	1	170668864	missense	probably benign
R5245:Olfml2b	UTSW	1	170668874	missense	probably benign
R5268:Olfml2b	UTSW	1	170649761	missense	probably damaging	1.00
R5283:Olfml2b	UTSW	1	170681189	nonsense	probably null
R5348:Olfml2b	UTSW	1	170662426	missense	probably benign	0.02
R5408:Olfml2b	UTSW	1	170644976	missense	probably damaging	1.00
R5673:Olfml2b	UTSW	1	170682129	missense	probably damaging	1.00
R5758:Olfml2b	UTSW	1	170669264	critical splice donor site	probably null
R5893:Olfml2b	UTSW	1	170662473	missense	probably benign
R6290:Olfml2b	UTSW	1	170649790	nonsense	probably null
R6380:Olfml2b	UTSW	1	170669231	missense	probably benign	0.00
R6778:Olfml2b	UTSW	1	170645070	missense	probably damaging	1.00
R7155:Olfml2b	UTSW	1	170666785	missense	probably benign	0.01
R7538:Olfml2b	UTSW	1	170649833	missense	possibly damaging	0.79
R8354:Olfml2b	UTSW	1	170682224	missense	possibly damaging	0.96
R8377:Olfml2b	UTSW	1	170668784	missense	probably damaging	0.99
R8792:Olfml2b	UTSW	1	170681100	missense	possibly damaging	0.68

Posted On

2015-04-16