Mutagenetix > Incidental Mutation

Incidental Mutation 'R7884:Omd'

608964

Institutional Source

Beutler Lab

Gene Symbol

Omd

Ensembl Gene

ENSMUSG00000048368

Gene Name

osteomodulin

Synonyms

osteoadherin, SLRR2C, OSAD

MMRRC Submission

045936-MU

Accession Numbers

Essential gene?

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

Stock #

R7884 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49735938-49746088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49743630 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 227 (M227V)

Ref Sequence

ENSEMBL: ENSMUSP00000065706 (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

probably damaging
Transcript: ENSMUST00000065494
AA Change: M227V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065706
Gene: ENSMUSG00000048368
AA Change: M227V

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 damaging
Transcript: ENSMUST00000221170
AA Change: M227V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	T	C	16: 38,422,593 (GRCm39)	T1158A	probably damaging	Het
Arhgap32	A	G	9: 32,171,810 (GRCm39)	E1530G	possibly damaging	Het
C3	A	G	17: 57,533,264 (GRCm39)	F113S	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Csmd1	T	C	8: 16,011,418 (GRCm39)	N2545S	probably damaging	Het
Ctsh	A	G	9: 89,943,476 (GRCm39)	D49G	probably benign	Het
Cyp7a1	T	A	4: 6,272,697 (GRCm39)	Y172F	probably benign	Het
Ddx52	A	G	11: 83,842,911 (GRCm39)		probably null	Het
Dmxl1	A	G	18: 50,026,474 (GRCm39)	T1861A	possibly damaging	Het
Dnah7c	C	T	1: 46,830,929 (GRCm39)	L3813F	probably benign	Het
Efl1	A	G	7: 82,307,307 (GRCm39)	I68V	probably damaging	Het
Etnk2	T	C	1: 133,293,438 (GRCm39)	V127A	possibly damaging	Het
Fank1	G	C	7: 133,478,554 (GRCm39)	R206P	probably damaging	Het
Fbxl9	A	G	8: 106,042,165 (GRCm39)	I221T	probably benign	Het
Fbxw27	G	A	9: 109,618,468 (GRCm39)	R73*	probably null	Het
Fndc1	A	T	17: 7,992,029 (GRCm39)	S556T	unknown	Het
Gnb3	T	C	6: 124,814,055 (GRCm39)	T178A	probably benign	Het
H2bc12	T	C	13: 22,220,225 (GRCm39)	S57P	probably damaging	Het
H2-M10.3	A	T	17: 36,677,174 (GRCm39)	L326Q	probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Itfg2	T	C	6: 128,393,344 (GRCm39)		probably benign	Het
Kcnma1	G	A	14: 23,387,057 (GRCm39)	P995L	probably benign	Het
Lama1	G	A	17: 68,076,430 (GRCm39)	G1068D		Het
Lats1	A	T	10: 7,573,290 (GRCm39)	K125*	probably null	Het
Lipg	C	T	18: 75,081,078 (GRCm39)	M334I	probably damaging	Het
Loxhd1	A	T	18: 77,518,909 (GRCm39)	E1905V	probably damaging	Het
Lpin1	C	T	12: 16,612,370 (GRCm39)	G544D		Het
Lyst	A	T	13: 13,882,268 (GRCm39)	N2853I	probably benign	Het
Mars1	A	G	10: 127,136,114 (GRCm39)	I525T	probably damaging	Het
Miga2	T	A	2: 30,261,216 (GRCm39)	D170E	probably benign	Het
Mrpl34	T	C	8: 71,917,911 (GRCm39)	V28A	probably benign	Het
Muc16	A	T	9: 18,553,990 (GRCm39)	V4101E	unknown	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Myo1f	A	G	17: 33,817,270 (GRCm39)	Y771C	probably damaging	Het
Nr2f1	G	A	13: 78,337,988 (GRCm39)	T376I	probably benign	Het
Nsd1	A	G	13: 55,461,068 (GRCm39)	T2535A	probably damaging	Het
Nup98	T	A	7: 101,825,556 (GRCm39)	T428S	probably benign	Het
Osbpl7	A	C	11: 96,951,283 (GRCm39)	I657L	possibly damaging	Het
Pdgfrb	T	C	18: 61,205,730 (GRCm39)	V572A	probably damaging	Het
Pik3c3	T	C	18: 30,445,624 (GRCm39)	V537A	probably benign	Het
Pou2f2	T	C	7: 24,815,489 (GRCm39)	M93V	probably benign	Het
Ppip5k2	T	C	1: 97,668,207 (GRCm39)	T640A	probably benign	Het
Ptar1	C	T	19: 23,686,158 (GRCm39)	P157S	probably benign	Het
Rapgef2	T	A	3: 78,973,933 (GRCm39)	D1471V	possibly damaging	Het
Rgs7	A	T	1: 174,977,216 (GRCm39)		probably null	Het
Rhag	A	G	17: 41,142,536 (GRCm39)	Y247C	probably benign	Het
Sardh	A	G	2: 27,129,383 (GRCm39)	I305T	probably damaging	Het
Scn11a	A	G	9: 119,633,617 (GRCm39)	I372T	probably benign	Het
Scn3a	G	T	2: 65,366,859 (GRCm39)	D54E	probably damaging	Het
Senp2	A	G	16: 21,832,981 (GRCm39)	T90A	probably benign	Het
Serpinh1	C	T	7: 98,998,495 (GRCm39)	R45H	probably benign	Het
Siglecg	T	C	7: 43,058,703 (GRCm39)	V152A	probably benign	Het
Sipa1l2	T	A	8: 126,174,337 (GRCm39)	M1314L	probably benign	Het
Slc23a1	A	G	18: 35,759,002 (GRCm39)	F63S	possibly damaging	Het
Slc25a40	T	A	5: 8,492,509 (GRCm39)	L133Q	probably damaging	Het
Slc6a16	A	G	7: 44,908,771 (GRCm39)	E117G	probably damaging	Het
Thoc2l	T	C	5: 104,669,212 (GRCm39)	S1245P	possibly damaging	Het
Tmem235	G	A	11: 117,755,033 (GRCm39)	V162M	probably benign	Het
Trank1	A	G	9: 111,221,584 (GRCm39)	T2774A	probably benign	Het
Trav10n	A	T	14: 53,359,587 (GRCm39)	H6L	probably benign	Het
Trav13d-3	G	A	14: 53,270,704 (GRCm39)	W55*	probably null	Het
Zfp654	G	T	16: 64,672,011 (GRCm39)	A2E	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	probably damaging	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
R5095:Omd	UTSW	13	49,743,174 (GRCm39)	missense	possibly damaging	0.95
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
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'- TCTTTGGAAAGACTCCTTCTTGG -3'
(R):5'- TGGAATGTAGAATGCTTGCTTC -3'

Sequencing Primer
(F):5'- GGAAAGACTCCTTCTTGGTTATAATG -3'
(R):5'- GTGTCCAACGTTGAGTTCTATAAG -3'

Posted On

2019-12-20