Mutagenetix > Incidental Mutations

Incidental Mutation 'R5348:Olfml2b'

422717

Institutional Source

Beutler Lab

Gene Symbol

Olfml2b

Ensembl Gene

ENSMUSG00000038463

Gene Name

olfactomedin-like 2B

Synonyms

photomedin-2, 1110018N05Rik, 4832415H08Rik

MMRRC Submission

042927-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5348 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

170644532-170682789 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 170662426 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 205 (E205G)

Ref Sequence

ENSEMBL: ENSMUSP00000047291 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000046792
AA Change: E205G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000047291
Gene: ENSMUSG00000038463
AA Change: E205G

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: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

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
4932438A13Rik	A	G	3: 37,048,146	E1331G	probably damaging	Het
Abcg5	A	T	17: 84,671,206	C275S	possibly damaging	Het
Cdk12	T	A	11: 98,204,292	S309T	probably benign	Het
Cep295nl	T	C	11: 118,333,599	R140G	probably damaging	Het
Chd8	A	G	14: 52,232,698	V485A	probably damaging	Het
Chn2	A	G	6: 54,300,218	I279V	probably damaging	Het
Cux2	A	G	5: 121,865,978	S1032P	probably damaging	Het
Ddx55	T	A	5: 124,554,565	M44K	probably damaging	Het
Dpyd	T	A	3: 118,781,943	H143Q	probably benign	Het
Fbxo10	A	G	4: 45,058,934	W268R	probably damaging	Het
Gmfg	A	G	7: 28,446,394	D86G	probably benign	Het
Gpd1	T	C	15: 99,722,140	V273A	possibly damaging	Het
Grhpr	T	C	4: 44,985,393	I158T	probably damaging	Het
Itpr2	A	G	6: 146,476,693	F53L	possibly damaging	Het
Kctd21	A	G	7: 97,347,970	I217V	probably benign	Het
Lrfn2	A	G	17: 49,096,690	T614A	probably benign	Het
Lrrc7	T	A	3: 158,175,326	D491V	probably benign	Het
Myo7b	T	C	18: 31,983,919	E916G	probably damaging	Het
Nf1	C	T	11: 79,564,899	T550I	probably damaging	Het
Nsd1	A	G	13: 55,312,334	T2125A	probably benign	Het
Olfr1084	A	T	2: 86,638,806	L301I	probably benign	Het
Papolb	T	C	5: 142,529,217	T224A	possibly damaging	Het
Pcnx2	T	C	8: 125,818,756	E1172G	probably damaging	Het
Ppip5k2	A	G	1: 97,747,592	L362S	possibly damaging	Het
Ppp1r9b	T	A	11: 94,996,612	Y59*	probably null	Het
Pramef8	T	C	4: 143,416,781	L39P	probably damaging	Het
Rapgef5	T	A	12: 117,688,611	S76R	probably benign	Het
Rnh1	A	T	7: 141,163,408	V218D	probably damaging	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Slc4a7	G	T	14: 14,786,310	V999L	probably benign	Het
Slco4c1	A	T	1: 96,842,529	I270N	probably damaging	Het
Tdp1	A	G	12: 99,915,506	Y498C	probably damaging	Het
Tfip11	A	G	5: 112,335,668	S650G	probably benign	Het
Ttn	T	C	2: 76,778,294	T17793A	possibly damaging	Het
Ulk2	T	C	11: 61,783,613	T856A	probably benign	Het
Vps13d	C	T	4: 145,065,889	G3726E	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
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

Predicted Primers

PCR Primer
(F):5'- GCAAATCTCCATGCTCCAAG -3'
(R):5'- GACACAGAACTGAGACCCTG -3'

Sequencing Primer
(F):5'- TGCTCCAAGCCACCCTG -3'
(R):5'- AGAACTGAGACCCTGGCCTTG -3'

Posted On

2016-08-04