Mutagenetix > Incidental Mutation

Incidental Mutation 'R1420:Olfml2b'

160019

Institutional Source

Beutler Lab

Gene Symbol

Olfml2b

Ensembl Gene

ENSMUSG00000038463

Gene Name

olfactomedin-like 2B

Synonyms

4832415H08Rik, 1110018N05Rik, photomedin-2

MMRRC Submission

039476-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1420 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

170472101-170510356 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 170496596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 409 (T409M)

Ref Sequence

ENSEMBL: ENSMUSP00000047291 (fasta)

Gene Model

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

AlphaFold

Q3V1G4

Predicted Effect

probably benign
Transcript: ENSMUST00000046792
AA Change: T409M

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000047291
Gene: ENSMUSG00000038463
AA Change: T409M

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: 98.9%
3x: 98.0%
10x: 95.6%
20x: 90.6%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	A	G	10: 83,331,799 (GRCm39)	Y669H	probably damaging	Het
Amotl2	A	T	9: 102,601,982 (GRCm39)	M409L	possibly damaging	Het
Ankrd35	A	G	3: 96,592,054 (GRCm39)	E780G	probably benign	Het
Brwd1	T	C	16: 95,837,234 (GRCm39)	Y866C	probably damaging	Het
Cul4b	G	C	X: 37,653,918 (GRCm39)		probably null	Het
Daw1	A	T	1: 83,137,548 (GRCm39)	Y10F	possibly damaging	Het
Dgki	A	T	6: 37,027,204 (GRCm39)		probably null	Het
Dnah3	A	T	7: 119,551,202 (GRCm39)	V3039E	probably damaging	Het
Ercc4	C	T	16: 12,948,073 (GRCm39)	T340I	probably benign	Het
Fam83b	T	C	9: 76,399,894 (GRCm39)	N403S	possibly damaging	Het
Fbh1	A	G	2: 11,772,493 (GRCm39)	F63L	probably benign	Het
Foxm1	G	A	6: 128,349,884 (GRCm39)	R395H	possibly damaging	Het
Gtpbp4	C	T	13: 9,023,298 (GRCm39)	A589T	probably benign	Het
Ifna7	C	A	4: 88,734,906 (GRCm39)	H148N	probably damaging	Het
Il23r	T	C	6: 67,463,181 (GRCm39)	Y104C	probably damaging	Het
Il31ra	A	T	13: 112,668,286 (GRCm39)	W347R	probably damaging	Het
Ints7	T	G	1: 191,345,169 (GRCm39)	F620V	possibly damaging	Het
Iqcd	T	C	5: 120,738,860 (GRCm39)	L226P	probably damaging	Het
Jak3	G	T	8: 72,134,182 (GRCm39)	R428L	possibly damaging	Het
Kif28	C	A	1: 179,529,962 (GRCm39)	C733F	probably damaging	Het
Klkb1	C	A	8: 45,729,183 (GRCm39)	C347F	probably damaging	Het
Ksr2	A	G	5: 117,552,904 (GRCm39)	E4G	probably benign	Het
Lama1	T	C	17: 68,097,942 (GRCm39)	L1774P	probably damaging	Het
Lrriq3	A	G	3: 154,893,349 (GRCm39)	E350G	probably benign	Het
Nav3	G	A	10: 109,659,115 (GRCm39)	A834V	probably benign	Het
Ncoa6	G	A	2: 155,263,073 (GRCm39)	Q454*	probably null	Het
Nfatc2	C	A	2: 168,346,585 (GRCm39)	M836I	probably benign	Het
Nphp3	G	T	9: 103,913,092 (GRCm39)		probably null	Het
Oprk1	A	G	1: 5,672,544 (GRCm39)	K227R	probably damaging	Het
Or8g35	A	T	9: 39,381,289 (GRCm39)	H244Q	probably damaging	Het
Pate1	A	T	9: 35,596,505 (GRCm39)	W87R	probably damaging	Het
Pcnx4	T	C	12: 72,602,760 (GRCm39)	Y341H	probably benign	Het
Pde4c	T	A	8: 71,201,066 (GRCm39)	H421Q	probably damaging	Het
Pglyrp4	T	C	3: 90,636,021 (GRCm39)	V82A	probably damaging	Het
Pnmt	G	T	11: 98,278,502 (GRCm39)	R156L	probably benign	Het
Prdm9	C	A	17: 15,764,638 (GRCm39)	C714F	probably damaging	Het
Pwp1	T	C	10: 85,712,402 (GRCm39)	V80A	probably damaging	Het
Pxdn	T	C	12: 30,052,067 (GRCm39)	L568P	probably damaging	Het
Rasgrp4	C	A	7: 28,839,770 (GRCm39)	Q161K	probably damaging	Het
Rnf138	A	G	18: 21,159,159 (GRCm39)	E193G	probably damaging	Het
Slc16a6	A	G	11: 109,345,772 (GRCm39)	V413A	probably damaging	Het
Slc7a15	T	C	12: 8,584,442 (GRCm39)	T363A	probably benign	Het
Sufu	T	C	19: 46,385,623 (GRCm39)	S28P	probably benign	Het
Tex19.1	T	C	11: 121,037,872 (GRCm39)	S77P	probably damaging	Het
Tmc7	A	T	7: 118,165,440 (GRCm39)	Y91*	probably null	Het
Ttbk2	C	G	2: 120,576,393 (GRCm39)	R792S	probably benign	Het
Tyw1	T	C	5: 130,303,586 (GRCm39)		probably null	Het
U2surp	A	G	9: 95,344,856 (GRCm39)	S907P	probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vps50	T	A	6: 3,588,007 (GRCm39)	L660*	probably null	Het
Wdr55	A	G	18: 36,893,392 (GRCm39)	E18G	probably benign	Het
Wipi1	A	G	11: 109,469,198 (GRCm39)	V331A	probably benign	Het

Other mutations in Olfml2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Olfml2b	APN	1	170,496,635 (GRCm39)	missense	probably damaging	0.96
IGL01871:Olfml2b	APN	1	170,489,924 (GRCm39)	splice site	probably benign
IGL02475:Olfml2b	APN	1	170,509,743 (GRCm39)	missense	probably damaging	1.00
IGL02657:Olfml2b	APN	1	170,508,645 (GRCm39)	missense	probably benign	0.00
IGL03375:Olfml2b	APN	1	170,477,401 (GRCm39)	missense	probably benign	0.35
PIT4280001:Olfml2b	UTSW	1	170,475,305 (GRCm39)	missense	probably damaging	1.00
R0040:Olfml2b	UTSW	1	170,496,320 (GRCm39)	missense	probably benign	0.00
R0194:Olfml2b	UTSW	1	170,508,684 (GRCm39)	missense	possibly damaging	0.89
R0834:Olfml2b	UTSW	1	170,475,413 (GRCm39)	missense	probably benign	0.00
R1218:Olfml2b	UTSW	1	170,477,351 (GRCm39)	missense	probably damaging	1.00
R1386:Olfml2b	UTSW	1	170,508,731 (GRCm39)	missense	probably damaging	0.97
R1699:Olfml2b	UTSW	1	170,472,642 (GRCm39)	missense	possibly damaging	0.89
R1730:Olfml2b	UTSW	1	170,509,358 (GRCm39)	missense	probably damaging	1.00
R1755:Olfml2b	UTSW	1	170,509,346 (GRCm39)	missense	probably damaging	1.00
R1869:Olfml2b	UTSW	1	170,496,812 (GRCm39)	missense	probably damaging	0.96
R2295:Olfml2b	UTSW	1	170,490,107 (GRCm39)	splice site	probably benign
R2394:Olfml2b	UTSW	1	170,477,319 (GRCm39)	missense	possibly damaging	0.82
R3784:Olfml2b	UTSW	1	170,509,551 (GRCm39)	missense	probably damaging	0.96
R4523:Olfml2b	UTSW	1	170,496,791 (GRCm39)	missense	probably benign
R4611:Olfml2b	UTSW	1	170,472,516 (GRCm39)	missense	probably damaging	0.99
R4900:Olfml2b	UTSW	1	170,489,947 (GRCm39)	missense	probably damaging	1.00
R5201:Olfml2b	UTSW	1	170,496,433 (GRCm39)	missense	probably benign
R5245:Olfml2b	UTSW	1	170,496,443 (GRCm39)	missense	probably benign
R5268:Olfml2b	UTSW	1	170,477,330 (GRCm39)	missense	probably damaging	1.00
R5283:Olfml2b	UTSW	1	170,508,758 (GRCm39)	nonsense	probably null
R5348:Olfml2b	UTSW	1	170,489,995 (GRCm39)	missense	probably benign	0.02
R5408:Olfml2b	UTSW	1	170,472,545 (GRCm39)	missense	probably damaging	1.00
R5673:Olfml2b	UTSW	1	170,509,698 (GRCm39)	missense	probably damaging	1.00
R5758:Olfml2b	UTSW	1	170,496,833 (GRCm39)	critical splice donor site	probably null
R5893:Olfml2b	UTSW	1	170,490,042 (GRCm39)	missense	probably benign
R6290:Olfml2b	UTSW	1	170,477,359 (GRCm39)	nonsense	probably null
R6380:Olfml2b	UTSW	1	170,496,800 (GRCm39)	missense	probably benign	0.00
R6778:Olfml2b	UTSW	1	170,472,639 (GRCm39)	missense	probably damaging	1.00
R7155:Olfml2b	UTSW	1	170,494,354 (GRCm39)	missense	probably benign	0.01
R7538:Olfml2b	UTSW	1	170,477,402 (GRCm39)	missense	possibly damaging	0.79
R8354:Olfml2b	UTSW	1	170,509,793 (GRCm39)	missense	possibly damaging	0.96
R8377:Olfml2b	UTSW	1	170,496,353 (GRCm39)	missense	probably damaging	0.99
R8792:Olfml2b	UTSW	1	170,508,669 (GRCm39)	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- ACGACTGATGCGAGCATTCAGG -3'
(R):5'- ACCAGTCCAGGGAAGAAGGACTTAC -3'

Sequencing Primer
(F):5'- ATTCAGGCCGCAGCCTC -3'
(R):5'- TCCAGGGAAGAAGGACTTACCTATC -3'

Posted On

2014-03-14