Mutagenetix > Incidental Mutations

Incidental Mutation 'R5400:Omd'

429952

Institutional Source

Beutler Lab

Gene Symbol

Omd

Ensembl Gene

ENSMUSG00000048368

Gene Name

osteomodulin

Synonyms

osteoadherin, OSAD, SLRR2C

MMRRC Submission

042971-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R5400 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49582462-49592822 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49592227 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 371 (E371V)

Ref Sequence

ENSEMBL: ENSMUSP00000152066 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021818] [ENSMUST00000065494] [ENSMUST00000221170]

Predicted Effect

probably benign
Transcript: ENSMUST00000021818

SMART Domains

Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391

Domain	Start	End	E-Value	Type
coiled coil region	1	34	N/A	INTRINSIC
Pfam:CENP-P	102	278	3.9e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000065494
AA Change: E371V

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000065706
Gene: ENSMUSG00000048368
AA Change: E371V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LRRNT	61	95	3.14e-11	SMART
LRR	115	139	2.15e2	SMART
LRR	140	160	2.2e1	SMART
LRR	162	184	4.21e1	SMART
LRR	185	210	1.01e2	SMART
LRR	211	234	6.96e0	SMART
LRR	235	255	8.49e1	SMART
LRR	256	279	1.76e-1	SMART
LRR	300	322	7.8e1	SMART
Blast:LRR	330	353	6e-8	BLAST
low complexity region	385	391	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000221170
AA Change: E371V

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221751

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

98% (64/65)

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in impaired cued contextual conditioning behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	T	5: 9,479,247	N1027Y	probably damaging	Het
Accsl	T	C	2: 93,859,422	D380G	probably damaging	Het
Afm	T	C	5: 90,551,398	L567P	possibly damaging	Het
AI481877	A	G	4: 59,082,432	S399P	possibly damaging	Het
Anks1b	A	T	10: 90,512,824	I785L	probably damaging	Het
Arpc5l	G	A	2: 39,013,735	G79S	probably benign	Het
Arvcf	G	T	16: 18,399,070	R440L	probably benign	Het
Atm	T	C	9: 53,503,018	D924G	probably damaging	Het
Atp8b1	A	T	18: 64,545,989		probably null	Het
Cd19	C	T	7: 126,414,452	G55D	probably benign	Het
Cd34	A	G	1: 194,938,958		probably benign	Het
Cd69	T	A	6: 129,269,991	M88L	probably benign	Het
Ces2h	A	G	8: 105,018,425	E397G	probably benign	Het
Ddx60	T	C	8: 62,010,002	F1306L	possibly damaging	Het
Dennd5b	T	C	6: 149,000,016	E1124G	probably damaging	Het
Dio1	A	T	4: 107,306,988	M44K	probably damaging	Het
En1	A	G	1: 120,603,595	D188G	probably damaging	Het
Epha10	C	T	4: 124,914,121		probably benign	Het
Fam120b	A	T	17: 15,403,126	L455F	possibly damaging	Het
Flt4	AC	ACC	11: 49,651,034		probably null	Het
Gm38394	G	A	1: 133,658,141	T486I	probably damaging	Het
Incenp	A	G	19: 9,877,675		probably null	Het
Kansl3	A	G	1: 36,358,149	V86A	possibly damaging	Het
Klhl7	C	G	5: 24,126,920	F73L	probably damaging	Het
Med28	T	A	5: 45,525,199	V69D	probably damaging	Het
Mknk1	C	A	4: 115,864,552	L98M	probably damaging	Het
Mknk1	T	A	4: 115,864,553	L98Q	probably damaging	Het
Myo3b	T	A	2: 70,105,380	C97S	probably damaging	Het
Neto1	A	G	18: 86,395,908	H9R	possibly damaging	Het
Olfr1230	T	C	2: 89,296,913	D119G	probably damaging	Het
Olfr317	T	C	11: 58,732,320	T282A	possibly damaging	Het
Olfr354	A	T	2: 36,907,821	I292F	probably damaging	Het
Olfr78	G	A	7: 102,742,430	T191I	probably benign	Het
Osbpl9	G	T	4: 109,062,300	Y733*	probably null	Het
Pcdh12	A	T	18: 38,268,898	S91R	probably damaging	Het
Pxk	C	A	14: 8,136,911	P144Q	probably benign	Het
Qser1	A	G	2: 104,789,874	S198P	probably damaging	Het
Recql	T	G	6: 142,362,347		probably benign	Het
Reln	T	C	5: 21,979,714	D1601G	probably damaging	Het
Scn10a	T	C	9: 119,609,034	D1922G	probably damaging	Het
Scn11a	T	A	9: 119,769,908	R1185S	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc13a4	A	T	6: 35,301,842	C37*	probably null	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc9a9	T	A	9: 94,712,901	F155I	probably damaging	Het
Spef2	T	A	15: 9,614,281	K1193M	probably damaging	Het
Swt1	T	C	1: 151,412,834	T80A	probably benign	Het
Tmc1	A	G	19: 20,804,602	I584T	probably damaging	Het
Tsc22d1	C	A	14: 76,417,054	F324L	probably benign	Het
Usp19	T	C	9: 108,500,193	V1236A	probably damaging	Het
Vmn2r63	T	C	7: 42,928,211	N301S	probably benign	Het
Wrn	C	T	8: 33,294,917	V476I	probably benign	Het
Zbtb25	C	A	12: 76,349,702	E249*	probably null	Het
Zfp54	C	A	17: 21,433,700	T152K	probably benign	Het

Other mutations in Omd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01976:Omd	APN	13	49589643	nonsense	probably null
IGL01982:Omd	APN	13	49589497	missense	possibly damaging	0.88
IGL02678:Omd	APN	13	49592281	missense	probably benign	0.37
IGL03069:Omd	APN	13	49592394	utr 3 prime	probably benign
R1036:Omd	UTSW	13	49589971	missense	probably damaging	1.00
R3954:Omd	UTSW	13	49589737	missense	probably benign	0.00
R4030:Omd	UTSW	13	49589649	missense	probably benign	0.08
R4335:Omd	UTSW	13	49590236	missense	probably benign	0.02
R5095:Omd	UTSW	13	49589698	missense	possibly damaging	0.95
R5137:Omd	UTSW	13	49590076	missense	probably benign	0.05
R5596:Omd	UTSW	13	49592338	missense	probably benign	0.16
R5930:Omd	UTSW	13	49589636	missense	possibly damaging	0.63
R6132:Omd	UTSW	13	49590367	missense	probably damaging	0.97
R6294:Omd	UTSW	13	49589991	missense	probably damaging	1.00
R6454:Omd	UTSW	13	49589869	missense	probably damaging	0.99
R6680:Omd	UTSW	13	49589528	missense	possibly damaging	0.74
R6704:Omd	UTSW	13	49589873	missense	probably damaging	1.00
R6932:Omd	UTSW	13	49590234	missense	probably damaging	1.00
R7427:Omd	UTSW	13	49592269	missense	possibly damaging	0.68
R7884:Omd	UTSW	13	49590154	missense	probably damaging	1.00
R7971:Omd	UTSW	13	49590254	missense	probably benign	0.00
R8129:Omd	UTSW	13	49592089	missense	probably damaging	0.99
R8399:Omd	UTSW	13	49589869	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- CAGGCATCAATGTGACAATGATATG -3'
(R):5'- CACCAACATCTTAAATGCAGTTCTG -3'

Sequencing Primer
(F):5'- AATGATATGTCCTTCTCCTGATCCAG -3'
(R):5'- GCTTTATGGAGGCATAAATGTGTACC -3'

Posted On

2016-09-06