Mutagenetix > Incidental Mutations

Incidental Mutation 'R5758:Olfml2b'

462631

Institutional Source

Beutler Lab

Gene Symbol

Olfml2b

Ensembl Gene

ENSMUSG00000038463

Gene Name

olfactomedin-like 2B

Synonyms

photomedin-2, 1110018N05Rik, 4832415H08Rik

MMRRC Submission

043203-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5758 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

170644532-170682789 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 170669264 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000047291 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000046792

SMART Domains

Protein: ENSMUSP00000047291
Gene: ENSMUSG00000038463

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

1x: 99.5%
3x: 98.8%
10x: 97.4%
20x: 95.5%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,314,536	N2973D	probably damaging	Het
Acan	A	T	7: 79,101,214	E1911V	possibly damaging	Het
Adamts20	T	C	15: 94,394,650	N193S	probably benign	Het
AF067063	T	C	13: 119,828,255	D135G	probably damaging	Het
Arhgap28	T	C	17: 67,873,159	D81G	probably benign	Het
Calhm3	A	G	19: 47,151,751	V301A	probably damaging	Het
Celsr1	C	T	15: 85,941,264	G1556D	probably benign	Het
Cfap221	A	G	1: 119,934,558	L598P	probably benign	Het
Col6a6	T	C	9: 105,761,518		probably null	Het
Dmxl2	T	A	9: 54,472,964	I142F	probably benign	Het
Dpy19l4	C	T	4: 11,276,886	V338M	probably damaging	Het
Dpys	A	C	15: 39,826,999	D319E	possibly damaging	Het
Dsc3	A	G	18: 19,989,534	V111A	probably damaging	Het
Galnt5	T	C	2: 57,998,430	V14A	probably benign	Het
Hebp2	C	A	10: 18,544,407	V93L	probably damaging	Het
Igkv8-21	A	T	6: 70,315,025	S78T	possibly damaging	Het
Jak2	T	A	19: 29,309,643	D1036E	probably damaging	Het
Kazn	A	G	4: 142,141,671		probably null	Het
Kif9	T	C	9: 110,489,879	V143A	probably damaging	Het
Lhcgr	T	C	17: 88,742,548	I517V	probably damaging	Het
Llgl1	T	C	11: 60,708,567	F458S	probably damaging	Het
Mrgprb3	C	A	7: 48,643,319	M161I	probably benign	Het
Muc5b	A	T	7: 141,858,983	I1889F	unknown	Het
Mysm1	A	G	4: 94,952,361	V606A	probably damaging	Het
Nipal3	T	C	4: 135,452,563	D348G	probably benign	Het
Olfr467	T	C	7: 107,814,815	V77A	probably damaging	Het
Olfr497	T	A	7: 108,423,162	V197D	probably benign	Het
Orc5	T	C	5: 22,529,258	D176G	possibly damaging	Het
Rapgef6	A	G	11: 54,668,644	N1041S	probably damaging	Het
Ryr3	G	A	2: 112,841,975	R1384C	probably damaging	Het
Sar1a	A	G	10: 61,685,072	Y22C	probably benign	Het
Shcbp1	T	C	8: 4,749,355		probably null	Het
Smim17	C	T	7: 6,424,789	H25Y	possibly damaging	Het
Trim10	C	T	17: 36,877,152	T420I	possibly damaging	Het
Trip13	G	T	13: 73,937,495	S29R	probably benign	Het
Tubgcp5	C	T	7: 55,818,895	R713C	probably damaging	Het
Uckl1	C	A	2: 181,569,953	G420C	probably damaging	Het
Vangl1	A	T	3: 102,184,092	V226D	probably damaging	Het
Zdhhc17	A	G	10: 110,944,395	*633Q	probably null	Het
Zfhx4	A	G	3: 5,402,620	K2613E	probably damaging	Het
Zfp236	G	A	18: 82,671,709	T215M	probably damaging	Het
Zfp563	A	G	17: 33,104,920	H163R	probably damaging	Het
Zfp703	C	T	8: 26,979,205	P299L	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCAGCCACTTCCAGCAATG -3'
(R):5'- GCTGTGAAAACTAACTACTGGTCAG -3'

Sequencing Primer
(F):5'- ACTTCCAGCAATGGTTCCTGGG -3'
(R):5'- CTAACTACTGGTCAGAGGCAC -3'

Posted On

2017-03-01