Mutagenetix > Incidental Mutation

Incidental Mutation 'R6454:Omd'

519496

Institutional Source

Beutler Lab

Gene Symbol

Omd

Ensembl Gene

ENSMUSG00000048368

Gene Name

osteomodulin

Synonyms

osteoadherin, SLRR2C, OSAD

MMRRC Submission

044590-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R6454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49735938-49746088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 49743345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 132 (I132F)

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

probably damaging
Transcript: ENSMUST00000065494
AA Change: I132F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065706
Gene: ENSMUSG00000048368
AA Change: I132F

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: I132F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221751

Meta Mutation Damage Score

0.4295

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.1%

Validation Efficiency

100% (63/63)

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
Adam34l	G	T	8: 44,079,845 (GRCm39)	N126K	probably damaging	Het
Arid2	C	T	15: 96,270,294 (GRCm39)	T1469I	probably benign	Het
Atp12a	A	G	14: 56,608,290 (GRCm39)	T93A	probably benign	Het
Atp8a2	A	T	14: 60,245,948 (GRCm39)		probably null	Het
Casz1	A	T	4: 149,035,952 (GRCm39)	I1405F	probably damaging	Het
Chrnb3	T	C	8: 27,883,403 (GRCm39)	S100P	probably damaging	Het
Creld2	T	A	15: 88,707,274 (GRCm39)	C197*	probably null	Het
Csmd1	A	T	8: 15,971,150 (GRCm39)	F3055Y	probably damaging	Het
Dnah11	T	A	12: 117,880,590 (GRCm39)	E3843D	probably benign	Het
Dnah14	T	C	1: 181,611,270 (GRCm39)	S3799P	probably damaging	Het
Dpp9	A	T	17: 56,513,808 (GRCm39)	L102Q	probably damaging	Het
Eipr1	T	G	12: 28,914,761 (GRCm39)	I305S	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Faf1	G	T	4: 109,699,531 (GRCm39)	A359S	probably benign	Het
Fam13b	A	G	18: 34,590,715 (GRCm39)		probably null	Het
Gm14496	A	T	2: 181,638,015 (GRCm39)	N363I	probably damaging	Het
Grm8	T	G	6: 27,363,775 (GRCm39)	H580P	possibly damaging	Het
Itih5	T	C	2: 10,245,479 (GRCm39)	F523L	probably benign	Het
Klhl1	A	T	14: 96,517,527 (GRCm39)	M383K	possibly damaging	Het
Lgi4	A	T	7: 30,759,557 (GRCm39)	T38S	probably benign	Het
Myh13	T	A	11: 67,241,191 (GRCm39)	M856K	probably benign	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Nlrp9c	G	A	7: 26,085,199 (GRCm39)	R127C	possibly damaging	Het
Notch2	T	C	3: 98,044,722 (GRCm39)	I1548T	possibly damaging	Het
Nphs2	T	A	1: 156,146,337 (GRCm39)	H179Q	probably damaging	Het
Nup153	T	C	13: 46,863,136 (GRCm39)		probably null	Het
Nup50l	T	G	6: 96,142,609 (GRCm39)	H145P	possibly damaging	Het
Odf2l	C	A	3: 144,859,181 (GRCm39)	Q517K	possibly damaging	Het
Or10d1b	A	G	9: 39,613,130 (GRCm39)	*312Q	probably null	Het
Or4a81	T	C	2: 89,619,522 (GRCm39)	Y58C	probably damaging	Het
Or5b12	T	A	19: 12,897,395 (GRCm39)	N93Y	probably benign	Het
Or9g19	A	G	2: 85,600,717 (GRCm39)	K191E	probably benign	Het
Otog	A	G	7: 45,955,241 (GRCm39)	N544D	probably damaging	Het
Ovol3	A	G	7: 29,934,800 (GRCm39)	Y29H	probably damaging	Het
Papolb	T	C	5: 142,515,353 (GRCm39)	K97E	possibly damaging	Het
Pcdhb19	G	T	18: 37,632,322 (GRCm39)	V706L	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Plekhm1	G	A	11: 103,268,208 (GRCm39)	R588C	probably damaging	Het
Pnpla6	G	T	8: 3,587,986 (GRCm39)	V1062L	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,827 (GRCm39)	F127L	probably damaging	Het
Rigi	T	A	4: 40,220,456 (GRCm39)	I476F	probably damaging	Het
Rnf5	A	C	17: 34,821,283 (GRCm39)	C47W	probably damaging	Het
Sbno1	A	T	5: 124,538,910 (GRCm39)	M517K	probably damaging	Het
Slc44a5	C	T	3: 153,948,796 (GRCm39)	T188M	probably benign	Het
Smco1	A	G	16: 32,092,041 (GRCm39)	T40A	possibly damaging	Het
Speer4f2	A	T	5: 17,579,431 (GRCm39)	I77F	probably damaging	Het
Spem2	A	G	11: 69,708,254 (GRCm39)	L237P	probably damaging	Het
Spg7	A	G	8: 123,806,162 (GRCm39)	K291E	possibly damaging	Het
Tent5b	A	G	4: 133,207,720 (GRCm39)	D37G	probably damaging	Het
Tiam2	A	T	17: 3,488,938 (GRCm39)	T749S	probably benign	Het
Tln1	T	C	4: 43,533,866 (GRCm39)	K2291E	probably damaging	Het
Tm6sf1	A	G	7: 81,525,801 (GRCm39)	M294V	probably damaging	Het
Tmem35b	T	C	4: 127,022,811 (GRCm39)	*138R	probably null	Het
Tpst1	A	G	5: 130,130,892 (GRCm39)	K121E	possibly damaging	Het
Tsc22d2	T	A	3: 58,323,261 (GRCm39)	V51D	possibly damaging	Het
Tshr	C	A	12: 91,505,323 (GRCm39)	Q754K	probably benign	Het
Ttc38	T	A	15: 85,723,023 (GRCm39)	M157K	probably damaging	Het
Ube2g2	T	G	10: 77,470,580 (GRCm39)		probably benign	Het
Ugt2b37	T	G	5: 87,388,836 (GRCm39)	D459A	probably damaging	Het
Usp35	A	T	7: 96,960,851 (GRCm39)	Y858*	probably null	Het
Usp35	A	T	7: 96,960,767 (GRCm39)	N886K	probably damaging	Het
Wdr33	T	C	18: 31,963,028 (GRCm39)	V125A	possibly damaging	Het
Xpnpep1	G	A	19: 52,986,310 (GRCm39)	T506I	possibly 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
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'- GTGCTAAGGAATGCTTCTGTCC -3'
(R):5'- TAGCAGAGGTCAAGCATAGTCAC -3'

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

Posted On

2018-05-24