Mutagenetix > Incidental Mutation

Incidental Mutation 'R9718:Omd'

730626

Institutional Source

Beutler Lab

Gene Symbol

Omd

Ensembl Gene

ENSMUSG00000048368

Gene Name

osteomodulin

Synonyms

osteoadherin, OSAD, SLRR2C

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R9718 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49582462-49592822 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49589860 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 129 (S129P)

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: S129P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065706
Gene: ENSMUSG00000048368
AA Change: S129P

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: S129P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	A	C	2: 32,575,235 (GRCm38)		probably benign	Het
Acvr1c	A	T	2: 58,315,995 (GRCm38)	D34E	probably benign	Het
Arhgef19	T	C	4: 141,249,292 (GRCm38)	V455A	probably damaging	Het
Cbfa2t3	T	A	8: 122,638,197 (GRCm38)	D282V	probably benign	Het
Ccl9	T	A	11: 83,575,412 (GRCm38)	N114I	probably benign	Het
Cdan1	G	T	2: 120,724,169 (GRCm38)	A875E	probably damaging	Het
Celf2	A	T	2: 6,721,538 (GRCm38)	F61L	probably damaging	Het
Chd9	T	C	8: 90,986,173 (GRCm38)	Y875H	unknown	Het
Ckap5	A	T	2: 91,548,832 (GRCm38)	K39M	probably benign	Het
Clcn3	T	C	8: 60,937,400 (GRCm38)	H169R	possibly damaging	Het
Csmd3	C	A	15: 47,696,687 (GRCm38)	V1416F		Het
Cyp4v3	A	T	8: 45,320,666 (GRCm38)	H155Q	probably damaging	Het
Dhx36	A	G	3: 62,472,045 (GRCm38)	F874S	possibly damaging	Het
Dnah14	A	T	1: 181,622,979 (GRCm38)	Q719L	probably benign	Het
Evi2	C	T	11: 79,515,757 (GRCm38)	V331M	probably damaging	Het
Fcgrt	T	G	7: 45,095,429 (GRCm38)	E205A	possibly damaging	Het
Fkrp	G	T	7: 16,811,187 (GRCm38)	T250N	probably benign	Het
Galc	G	A	12: 98,259,314 (GRCm38)	P6S		Het
Gm13420	A	T	2: 29,747,536 (GRCm38)	L42Q	probably damaging	Het
Gm5134	A	T	10: 75,992,497 (GRCm38)	M304L	possibly damaging	Het
Gm813	A	G	16: 58,614,611 (GRCm38)	L117S	probably benign	Het
Haao	T	C	17: 83,834,786 (GRCm38)	E208G	probably damaging	Het
Hook1	T	A	4: 96,016,441 (GRCm38)	H553Q	probably benign	Het
Igdcc3	A	G	9: 65,182,998 (GRCm38)		probably null	Het
Ighv10-3	C	T	12: 114,523,634 (GRCm38)	V56I	probably benign	Het
Ighv1-62-1	G	T	12: 115,387,085 (GRCm38)	A15E	probably benign	Het
Krtap24-1	T	C	16: 88,611,490 (GRCm38)	*249W	probably null	Het
Ktn1	T	G	14: 47,673,051 (GRCm38)	I318R	probably damaging	Het
L3mbtl2	A	G	15: 81,687,922 (GRCm38)	T710A	unknown	Het
Ldha	A	T	7: 46,855,032 (GRCm38)	Q326L	possibly damaging	Het
Map4	G	A	9: 110,072,706 (GRCm38)		probably null	Het
Mdfic	T	A	6: 15,770,515 (GRCm38)	H173Q	probably damaging	Het
Noxred1	T	A	12: 87,224,918 (GRCm38)	Q159L	possibly damaging	Het
Olfr114	C	T	17: 37,590,023 (GRCm38)	G110D	probably benign	Het
Olfr584	T	C	7: 103,085,989 (GRCm38)	V152A	probably benign	Het
Parp16	A	G	9: 65,233,727 (GRCm38)	Y193C	probably damaging	Het
Pdzk1	A	G	3: 96,855,858 (GRCm38)	T201A		Het
Phldb2	T	A	16: 45,781,393 (GRCm38)	H728L	possibly damaging	Het
Ptchd4	C	T	17: 42,502,750 (GRCm38)	T514I	probably damaging	Het
Pusl1	T	C	4: 155,891,637 (GRCm38)	D24G	probably benign	Het
Rai1	G	A	11: 60,189,339 (GRCm38)	A1410T	probably benign	Het
Rint1	T	A	5: 23,800,723 (GRCm38)	H134Q	possibly damaging	Het
Rnf170	A	G	8: 26,129,215 (GRCm38)	S156G	unknown	Het
Rtf1	A	G	2: 119,705,505 (GRCm38)	D180G	possibly damaging	Het
Sectm1a	G	T	11: 121,069,664 (GRCm38)	D108E	probably damaging	Het
Senp7	T	A	16: 56,123,914 (GRCm38)	D200E	probably damaging	Het
Sfswap	A	G	5: 129,539,784 (GRCm38)	S431G	probably benign	Het
Sh3bp4	T	A	1: 89,145,750 (GRCm38)	D773E	probably damaging	Het
Shprh	T	C	10: 11,213,504 (GRCm38)	L1662P	probably damaging	Het
Slx4	G	T	16: 3,986,464 (GRCm38)	P829T	possibly damaging	Het
Snapc4	A	T	2: 26,378,521 (GRCm38)	S43T	probably damaging	Het
Ssh3	C	T	19: 4,262,409 (GRCm38)	R636Q	probably benign	Het
Strn4	G	A	7: 16,838,571 (GRCm38)	V679M	probably damaging	Het
Tas2r121	T	G	6: 132,700,802 (GRCm38)	Y69S	probably benign	Het
Tcerg1	C	T	18: 42,530,771 (GRCm38)	T341M	unknown	Het
Tjp2	A	C	19: 24,100,843 (GRCm38)	S895R	probably damaging	Het
Tmem220	G	T	11: 67,025,260 (GRCm38)	A28S	probably damaging	Het
Trdv1	G	A	14: 53,882,206 (GRCm38)	C109Y	probably damaging	Het
Trpc6	A	G	9: 8,634,189 (GRCm38)	Y423C	probably damaging	Het
Ttn	T	C	2: 76,794,683 (GRCm38)	M15184V	possibly damaging	Het
Ugt2b37	T	A	5: 87,242,943 (GRCm38)	Y355F	probably benign	Het
Vnn3	C	T	10: 23,869,556 (GRCm38)	R468*	probably null	Het
Washc5	T	A	15: 59,345,343 (GRCm38)	T792S	probably benign	Het
Wdfy4	T	C	14: 33,125,936 (GRCm38)	M820V		Het
Zfp961	T	A	8: 71,968,089 (GRCm38)	C149S	possibly damaging	Het
Zmat4	G	A	8: 23,748,491 (GRCm38)	V30M	probably damaging	Het

Other mutations in Omd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01976:Omd	APN	13	49,589,643 (GRCm38)	nonsense	probably null
IGL01982:Omd	APN	13	49,589,497 (GRCm38)	missense	possibly damaging	0.88
IGL02678:Omd	APN	13	49,592,281 (GRCm38)	missense	probably benign	0.37
IGL03069:Omd	APN	13	49,592,394 (GRCm38)	utr 3 prime	probably benign
R1036:Omd	UTSW	13	49,589,971 (GRCm38)	missense	probably damaging	1.00
R3954:Omd	UTSW	13	49,589,737 (GRCm38)	missense	probably benign	0.00
R4030:Omd	UTSW	13	49,589,649 (GRCm38)	missense	probably benign	0.08
R4335:Omd	UTSW	13	49,590,236 (GRCm38)	missense	probably benign	0.02
R5095:Omd	UTSW	13	49,589,698 (GRCm38)	missense	possibly damaging	0.95
R5137:Omd	UTSW	13	49,590,076 (GRCm38)	missense	probably benign	0.05
R5400:Omd	UTSW	13	49,592,227 (GRCm38)	missense	probably benign	0.37
R5596:Omd	UTSW	13	49,592,338 (GRCm38)	missense	probably benign	0.16
R5930:Omd	UTSW	13	49,589,636 (GRCm38)	missense	possibly damaging	0.63
R6132:Omd	UTSW	13	49,590,367 (GRCm38)	missense	probably damaging	0.97
R6294:Omd	UTSW	13	49,589,991 (GRCm38)	missense	probably damaging	1.00
R6454:Omd	UTSW	13	49,589,869 (GRCm38)	missense	probably damaging	0.99
R6680:Omd	UTSW	13	49,589,528 (GRCm38)	missense	possibly damaging	0.74
R6704:Omd	UTSW	13	49,589,873 (GRCm38)	missense	probably damaging	1.00
R6932:Omd	UTSW	13	49,590,234 (GRCm38)	missense	probably damaging	1.00
R7427:Omd	UTSW	13	49,592,269 (GRCm38)	missense	possibly damaging	0.68
R7884:Omd	UTSW	13	49,590,154 (GRCm38)	missense	probably damaging	1.00
R7971:Omd	UTSW	13	49,590,254 (GRCm38)	missense	probably benign	0.00
R8129:Omd	UTSW	13	49,592,089 (GRCm38)	missense	probably damaging	0.99
R8399:Omd	UTSW	13	49,589,869 (GRCm38)	missense	possibly damaging	0.50
R8914:Omd	UTSW	13	49,592,242 (GRCm38)	missense	probably damaging	1.00
R8959:Omd	UTSW	13	49,592,314 (GRCm38)	missense	possibly damaging	0.57
R8984:Omd	UTSW	13	49,590,100 (GRCm38)	missense	possibly damaging	0.92
R9415:Omd	UTSW	13	49,592,361 (GRCm38)	missense	probably benign
R9723:Omd	UTSW	13	49,590,362 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGCTAAGGAATGCTTCTGTCC -3'
(R):5'- TAGCAGAGGTCAAGCATAGTCAC -3'

Sequencing Primer
(F):5'- GGAATGCTTCTGTCCAACTAAC -3'
(R):5'- GAGGTCAAGCATAGTCACATTCAC -3'

Posted On

2022-10-06