Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03375:Olfml2b'

420464

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 #

IGL03375

Quality Score

Status

Chromosome

Chromosomal Location

170644532-170682789 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 170649832 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 179 (K179E)

Ref Sequence

ENSEMBL: ENSMUSP00000047291 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000046792
AA Change: K179E

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000047291
Gene: ENSMUSG00000038463
AA Change: K179E

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	A	G	16: 38,602,828	S959P	probably damaging	Het
Arrb2	G	A	11: 70,436,179	G24D	probably damaging	Het
Catsper4	A	G	4: 134,218,208	I180T	probably damaging	Het
Chst15	G	A	7: 132,270,457	Q32*	probably null	Het
Cntnap5c	A	T	17: 58,162,205	Y594F	possibly damaging	Het
Cse1l	T	A	2: 166,943,057		probably benign	Het
Dab1	A	T	4: 104,681,601	I201F	possibly damaging	Het
Eif2ak4	T	C	2: 118,422,318	V457A	probably benign	Het
Fkbp1b	T	C	12: 4,838,220		probably benign	Het
Fryl	C	A	5: 73,088,449	V1122F	possibly damaging	Het
Gas2l2	A	G	11: 83,426,210		probably benign	Het
Gm960	T	C	19: 4,698,178	E164G	probably benign	Het
Gstt2	A	T	10: 75,832,821		probably null	Het
Hcst	T	G	7: 30,418,611		probably benign	Het
Hectd4	A	G	5: 121,328,382	E2420G	possibly damaging	Het
Hist2h4	T	C	3: 96,263,142	T55A	possibly damaging	Het
Ifi206	A	T	1: 173,480,778	S551T	probably benign	Het
Itgb3bp	A	G	4: 99,769,487		probably benign	Het
Krtap6-2	A	G	16: 89,419,756	Y108H	unknown	Het
Krtap6-5	T	G	16: 89,047,852		probably benign	Het
Muc5b	A	G	7: 141,861,962	T2882A	possibly damaging	Het
Nup214	C	T	2: 32,010,221	T854M	probably damaging	Het
Olfr1281	A	T	2: 111,328,884	H155L	probably damaging	Het
Olfr149	A	G	9: 39,702,575	S65P	probably damaging	Het
Per2	A	T	1: 91,424,228	I852K	possibly damaging	Het
Pkhd1	A	T	1: 20,117,023	I3687N	probably damaging	Het
Slc7a2	A	T	8: 40,916,373	S622C	probably damaging	Het
Smarcc2	G	A	10: 128,482,912	V719I	probably damaging	Het
Syne2	T	C	12: 75,925,435	I1033T	possibly damaging	Het
Tmod1	T	C	4: 46,096,999	I264T	probably damaging	Het
Tmtc3	G	A	10: 100,447,719	A658V	possibly damaging	Het
Tpm3	A	G	3: 90,073,772	E56G	possibly damaging	Het
Tra2b	T	C	16: 22,247,243		probably benign	Het
Trmu	T	A	15: 85,894,937	Y262N	possibly damaging	Het
Uox	C	T	3: 146,625,835	T213I	probably damaging	Het
Vps13d	A	G	4: 145,091,947	W2R	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
IGL02657:Olfml2b	APN	1	170681076	missense	probably benign	0.00
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

Posted On

2016-08-02