Mutagenetix > Incidental Mutation

Incidental Mutation 'R5095:Omd'

395841

Institutional Source

Beutler Lab

Gene Symbol

Omd

Ensembl Gene

ENSMUSG00000048368

Gene Name

osteomodulin

Synonyms

osteoadherin, SLRR2C, OSAD

MMRRC Submission

042684-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R5095 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49735938-49746088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49743174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 75 (S75T)

Ref Sequence

ENSEMBL: ENSMUSP00000152066 (fasta)

Gene Model

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

AlphaFold

O35103

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: S75T

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000065706
Gene: ENSMUSG00000048368
AA Change: S75T

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: S75T

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221751

Meta Mutation Damage Score

0.6871

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (59/60)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021A07Rik	G	C	10: 21,301,492 (GRCm39)		noncoding transcript	Het
Adgrv1	C	T	13: 81,243,606 (GRCm39)	V6265I	probably benign	Het
Agbl1	G	A	7: 76,369,881 (GRCm39)	G660D	probably damaging	Het
Arap2	A	G	5: 62,811,392 (GRCm39)	Y1140H	probably damaging	Het
Atp6v1c1	T	C	15: 38,679,657 (GRCm39)		probably null	Het
C1rb	A	T	6: 124,557,272 (GRCm39)	R470W	possibly damaging	Het
Caskin2	T	C	11: 115,691,564 (GRCm39)	T1074A	probably benign	Het
Cdh19	T	A	1: 110,882,391 (GRCm39)	T34S	probably benign	Het
Csnk1a1	T	A	18: 61,708,547 (GRCm39)	Y175N	probably damaging	Het
F2	CAGAAAG	CAG	2: 91,465,302 (GRCm39)		probably benign	Het
Flt4	T	A	11: 49,517,986 (GRCm39)	V342D	possibly damaging	Het
Frmd5	A	T	2: 121,379,402 (GRCm39)	C394S	possibly damaging	Het
Gm5414	T	G	15: 101,532,473 (GRCm39)	N550T	probably benign	Het
Hcn3	C	A	3: 89,057,230 (GRCm39)	R456L	probably damaging	Het
Htt	T	C	5: 34,981,739 (GRCm39)	V893A	possibly damaging	Het
Ift46	A	G	9: 44,698,146 (GRCm39)	D203G	probably damaging	Het
Itga10	G	T	3: 96,555,480 (GRCm39)	V145L	probably benign	Het
Kcnh6	A	G	11: 105,908,080 (GRCm39)	D232G	possibly damaging	Het
Mbtd1	T	C	11: 93,820,497 (GRCm39)	S431P	probably damaging	Het
Mmp27	T	A	9: 7,572,159 (GRCm39)	W120R	probably damaging	Het
Mmp27	A	T	9: 7,579,001 (GRCm39)	D418V	probably damaging	Het
Myo5a	A	G	9: 75,059,302 (GRCm39)	D510G	probably damaging	Het
Myo5a	A	T	9: 75,091,671 (GRCm39)	K1179*	probably null	Het
Neto1	T	C	18: 86,416,406 (GRCm39)	S38P	probably benign	Het
Nos3	A	G	5: 24,573,916 (GRCm39)		probably benign	Het
Nuggc	C	T	14: 65,872,539 (GRCm39)	R512*	probably null	Het
Oas1e	T	A	5: 120,932,329 (GRCm39)	K105*	probably null	Het
Or10a3m	T	C	7: 108,313,019 (GRCm39)	F141S	probably damaging	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Pbrm1	A	G	14: 30,754,487 (GRCm39)	N190S	probably benign	Het
Picalm	T	C	7: 89,819,841 (GRCm39)	F85L	probably damaging	Het
Polg	A	G	7: 79,110,048 (GRCm39)	V360A	possibly damaging	Het
Prex1	T	C	2: 166,423,841 (GRCm39)	D1017G	probably damaging	Het
Prss56	G	C	1: 87,115,833 (GRCm39)	R569P	probably damaging	Het
Rab6b	G	A	9: 103,017,583 (GRCm39)	G25R	probably damaging	Het
Rdh10	A	G	1: 16,201,609 (GRCm39)	T332A	probably benign	Het
Rheb	A	T	5: 25,012,639 (GRCm39)	M115K	probably benign	Het
Rnf149	A	T	1: 39,594,737 (GRCm39)	D321E	probably benign	Het
Rps28	C	T	17: 34,042,177 (GRCm39)		probably null	Het
Slc6a20b	A	G	9: 123,424,119 (GRCm39)	V616A	probably benign	Het
Smarcc2	A	G	10: 128,305,169 (GRCm39)	K300R	probably damaging	Het
Sparcl1	C	T	5: 104,233,629 (GRCm39)	M573I	probably damaging	Het
Spata31h1	G	T	10: 82,119,501 (GRCm39)	A4503E	probably damaging	Het
Srp68	C	T	11: 116,139,573 (GRCm39)	V459M	probably damaging	Het
Stxbp4	C	T	11: 90,439,801 (GRCm39)	V346I	probably benign	Het
Syne2	A	G	12: 75,999,600 (GRCm39)	D2331G	probably damaging	Het
Ttn	A	T	2: 76,564,536 (GRCm39)	Y28534N	probably damaging	Het
Usp44	A	T	10: 93,682,707 (GRCm39)	I386F	possibly damaging	Het
Vmn2r15	T	C	5: 109,436,317 (GRCm39)		probably null	Het
Vmn2r72	T	A	7: 85,387,061 (GRCm39)	L834F	probably damaging	Het
Vps13b	T	A	15: 35,923,348 (GRCm39)	I3741K	probably damaging	Het
Zdbf2	A	G	1: 63,348,232 (GRCm39)	T2204A	possibly damaging	Het
Zfp607b	T	A	7: 27,393,061 (GRCm39)		probably benign	Het

Other mutations in Omd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01976:Omd	APN	13	49,743,119 (GRCm39)	nonsense	probably null
IGL01982:Omd	APN	13	49,742,973 (GRCm39)	missense	possibly damaging	0.88
IGL02678:Omd	APN	13	49,745,757 (GRCm39)	missense	probably benign	0.37
IGL03069:Omd	APN	13	49,745,870 (GRCm39)	utr 3 prime	probably benign
R1036:Omd	UTSW	13	49,743,447 (GRCm39)	missense	probably damaging	1.00
R3954:Omd	UTSW	13	49,743,213 (GRCm39)	missense	probably benign	0.00
R4030:Omd	UTSW	13	49,743,125 (GRCm39)	missense	probably benign	0.08
R4335:Omd	UTSW	13	49,743,712 (GRCm39)	missense	probably benign	0.02
R5137:Omd	UTSW	13	49,743,552 (GRCm39)	missense	probably benign	0.05
R5400:Omd	UTSW	13	49,745,703 (GRCm39)	missense	probably benign	0.37
R5596:Omd	UTSW	13	49,745,814 (GRCm39)	missense	probably benign	0.16
R5930:Omd	UTSW	13	49,743,112 (GRCm39)	missense	possibly damaging	0.63
R6132:Omd	UTSW	13	49,743,843 (GRCm39)	missense	probably damaging	0.97
R6294:Omd	UTSW	13	49,743,467 (GRCm39)	missense	probably damaging	1.00
R6454:Omd	UTSW	13	49,743,345 (GRCm39)	missense	probably damaging	0.99
R6680:Omd	UTSW	13	49,743,004 (GRCm39)	missense	possibly damaging	0.74
R6704:Omd	UTSW	13	49,743,349 (GRCm39)	missense	probably damaging	1.00
R6932:Omd	UTSW	13	49,743,710 (GRCm39)	missense	probably damaging	1.00
R7427:Omd	UTSW	13	49,745,745 (GRCm39)	missense	possibly damaging	0.68
R7884:Omd	UTSW	13	49,743,630 (GRCm39)	missense	probably damaging	1.00
R7971:Omd	UTSW	13	49,743,730 (GRCm39)	missense	probably benign	0.00
R8129:Omd	UTSW	13	49,745,565 (GRCm39)	missense	probably damaging	0.99
R8399:Omd	UTSW	13	49,743,345 (GRCm39)	missense	possibly damaging	0.50
R8914:Omd	UTSW	13	49,745,718 (GRCm39)	missense	probably damaging	1.00
R8959:Omd	UTSW	13	49,745,790 (GRCm39)	missense	possibly damaging	0.57
R8984:Omd	UTSW	13	49,743,576 (GRCm39)	missense	possibly damaging	0.92
R9415:Omd	UTSW	13	49,745,837 (GRCm39)	missense	probably benign
R9718:Omd	UTSW	13	49,743,336 (GRCm39)	missense	probably damaging	1.00
R9723:Omd	UTSW	13	49,743,838 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTATACTGCCAATATGAAGCTTACC -3'
(R):5'- CGTCCATGGCATTTGTTGGAAG -3'

Sequencing Primer
(F):5'- CTGCCAATATGAAGCTTACCGATGG -3'
(R):5'- CATTATAACCAAGAAGGAGTCTTTCC -3'

Posted On

2016-06-21