Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02475:Olfml2b'

294892

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02475

Quality Score

Status

Chromosome

Chromosomal Location

170644532-170682789 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 170682174 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 697 (D697G)

Ref Sequence

ENSEMBL: ENSMUSP00000047291 (fasta)

Gene Model

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

AlphaFold

Q3V1G4

Predicted Effect

probably damaging
Transcript: ENSMUST00000046792
AA Change: D697G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047291
Gene: ENSMUSG00000038463
AA Change: D697G

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,182,533		probably benign	Het
5730409E04Rik	A	G	4: 126,611,949	E90G	probably damaging	Het
Abhd6	T	A	14: 8,039,849	I27N	probably damaging	Het
Akap6	A	T	12: 53,139,494	E1230D	probably benign	Het
Bcl2l12	A	G	7: 44,996,893	V31A	possibly damaging	Het
Cep350	G	A	1: 155,862,595	R2501W	probably damaging	Het
Cnga3	A	G	1: 37,257,991		probably null	Het
Crcp	T	C	5: 130,059,858		probably benign	Het
Creb5	G	A	6: 53,693,924	S304N	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnah5	A	G	15: 28,219,150	D38G	probably benign	Het
Fam171a1	A	G	2: 3,223,490	I293V	possibly damaging	Het
Fbxw10	T	C	11: 62,857,735	V396A	possibly damaging	Het
Gm10340	G	A	14: 3,140,482		probably benign	Het
Gm20390	A	G	11: 93,955,574	V16A	probably damaging	Het
Grik3	A	G	4: 125,650,517	T344A	probably benign	Het
Itga7	T	C	10: 128,934,089	F34S	probably damaging	Het
Musk	T	C	4: 58,353,936		probably benign	Het
Neb	G	T	2: 52,292,819	N1038K	probably damaging	Het
Nf1	T	C	11: 79,535,667	Y1636H	probably damaging	Het
Ngef	G	T	1: 87,479,150	T632K	possibly damaging	Het
Nts	A	G	10: 102,490,247		probably benign	Het
Olfr1031	T	C	2: 85,992,032	F72L	probably benign	Het
Olfr1502	T	A	19: 13,862,299	C169S	probably damaging	Het
Olfr205	A	T	16: 59,328,725	H261Q	probably benign	Het
Otof	T	C	5: 30,376,682	R1428G	probably damaging	Het
Pgghg	T	C	7: 140,945,720	S479P		Het
Rnaseh2b	T	A	14: 62,346,615	F37I	probably damaging	Het
Rtn4	T	A	11: 29,733,801	I1031N	probably damaging	Het
Rxfp2	A	G	5: 150,063,686	E344G	probably benign	Het
Scel	A	G	14: 103,537,008	R89G	possibly damaging	Het
Sirt4	T	C	5: 115,482,996	E39G	probably benign	Het
Slc6a12	T	A	6: 121,354,375		probably null	Het
Snapc3	C	A	4: 83,450,096	H277N	probably benign	Het
Susd2	A	G	10: 75,637,499		probably null	Het
Tagap1	T	C	17: 6,956,427	Q290R	probably benign	Het
Tenm3	A	T	8: 48,279,198		probably benign	Het
Tmem54	A	T	4: 129,108,280	H40L	probably damaging	Het
Tnks1bp1	T	C	2: 85,059,377	S683P	probably damaging	Het
Tnpo2	A	G	8: 85,050,502	D547G	probably benign	Het
Tpd52l2	G	A	2: 181,499,874	V17M	probably benign	Het
Trip11	T	A	12: 101,895,683	T208S	probably benign	Het
Ttc17	C	A	2: 94,364,376	D551Y	probably damaging	Het
Ttll12	A	T	15: 83,587,101	W222R	probably damaging	Het
Xkr8	A	T	4: 132,728,201	I287N	probably damaging	Het
Zdhhc2	G	T	8: 40,473,025	G354C	probably null	Het
Zfp13	C	T	17: 23,576,098	A493T	probably benign	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
IGL02657:Olfml2b	APN	1	170681076	missense	probably benign	0.00
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