Mutagenetix > Incidental Mutations

Incidental Mutation 'R8399:Omd'

647786

Institutional Source

Beutler Lab

Gene Symbol

Omd

Ensembl Gene

ENSMUSG00000048368

Gene Name

osteomodulin

Synonyms

osteoadherin, OSAD, SLRR2C

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R8399 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49582462-49592822 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49589869 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 132 (I132V)

Ref Sequence

ENSEMBL: ENSMUSP00000065706 (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

possibly damaging
Transcript: ENSMUST00000065494
AA Change: I132V

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000065706
Gene: ENSMUSG00000048368
AA Change: I132V

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

possibly damaging
Transcript: ENSMUST00000221170
AA Change: I132V

PolyPhen 2 Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,489,170	V3384D	possibly damaging	Het
Apba3	C	A	10: 81,268,998	T35N	probably benign	Het
Bcl6	T	C	16: 23,972,948	M219V	probably benign	Het
Bco2	T	A	9: 50,541,118	T217S	probably benign	Het
C1s1	C	T	6: 124,535,293	V277I	probably benign	Het
Ccdc162	T	A	10: 41,539,521	R2149W	probably damaging	Het
Cers6	T	C	2: 68,861,771	F46L	probably benign	Het
Chpf	T	C	1: 75,476,220	I359V	probably benign	Het
Chrnb4	A	C	9: 55,043,823	L52R	probably benign	Het
Cox6a1	T	C	5: 115,345,899	T95A	probably damaging	Het
Def8	T	A	8: 123,455,499	Y197*	probably null	Het
Dmbt1	C	G	7: 131,082,587	D778E	unknown	Het
Dnaaf3	C	T	7: 4,523,937		probably null	Het
Dnm1l	T	A	16: 16,321,672	H484L	probably damaging	Het
Eml1	G	A	12: 108,538,131	S783N	possibly damaging	Het
Frmd4a	T	C	2: 4,572,433	S367P	probably damaging	Het
Hck	A	C	2: 153,138,317	K355N	probably damaging	Het
Hexim2	G	T	11: 103,138,503	R127L	probably damaging	Het
Hivep2	T	C	10: 14,132,434	L1592P	possibly damaging	Het
Htr1d	G	A	4: 136,443,375	G305E	probably damaging	Het
Ifi207	G	A	1: 173,730,278	S298L	unknown	Het
Ighv1-11	A	G	12: 114,612,427	V56A	possibly damaging	Het
Ighv7-1	G	A	12: 113,896,912	T12I	unknown	Het
Kctd14	T	C	7: 97,457,604	L22P	probably damaging	Het
Klra17	T	C	6: 129,874,937		probably benign	Het
Kndc1	C	T	7: 139,913,518	R467W	probably damaging	Het
Maf	T	A	8: 115,706,512	I118F	unknown	Het
Mppe1	T	C	18: 67,225,875	T341A	probably benign	Het
Mtmr2	T	A	9: 13,792,067	V186E	probably benign	Het
Nedd9	G	T	13: 41,318,474	Y176*	probably null	Het
Olfr1145	A	C	2: 87,810,224	M135L	probably damaging	Het
Olfr1238	T	C	2: 89,406,684	T132A	probably benign	Het
Pcnx4	T	A	12: 72,574,211	M935K	probably benign	Het
Pecr	G	A	1: 72,267,465	T219I	probably benign	Het
Pkd1l3	C	T	8: 109,623,888	P455L	possibly damaging	Het
Plcg2	T	C	8: 117,596,362	Y719H	probably damaging	Het
Plk4	C	T	3: 40,808,830	R479*	probably null	Het
Pms1	T	A	1: 53,267,932		probably null	Het
Raph1	C	T	1: 60,489,318	S928N	unknown	Het
Rtp4	G	T	16: 23,520,414		probably benign	Het
Skor1	C	T	9: 63,145,158	V510I	possibly damaging	Het
Smg1	T	C	7: 118,190,571	T699A	unknown	Het
Tcp11l1	T	C	2: 104,685,375	D381G	probably benign	Het
Tnik	T	A	3: 28,494,010	M56K	unknown	Het
Trappc9	G	A	15: 73,052,282	R204C	probably damaging	Het
Trmt10b	A	T	4: 45,305,870	M184L	possibly damaging	Het
Vmn1r224	T	A	17: 20,419,749	I196N	probably damaging	Het
Vmn1r49	A	T	6: 90,072,707	C104*	probably null	Het
Vmn2r35	A	C	7: 7,816,898	S124R	probably benign	Het
Wdr62	T	C	7: 30,258,061	E547G	probably damaging	Het
Zfp68	A	T	5: 138,607,820	D80E	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
R5400:Omd	UTSW	13	49592227	missense	probably benign	0.37
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

Predicted Primers

PCR Primer
(F):5'- GCTAAGGAATGCTTCTGTCCAAC -3'
(R):5'- TATAGCAGAGGTCAAGCATAGTC -3'

Sequencing Primer
(F):5'- CTTTCCAACATCAATGTACTGTGAC -3'
(R):5'- GCAGAGGTCAAGCATAGTCACATTC -3'

Posted On

2020-09-02