Mutagenetix > Incidental Mutation

Incidental Mutation 'R3763:Prg3'

270579

Institutional Source

Beutler Lab

Gene Symbol

Prg3

Ensembl Gene

ENSMUSG00000027072

Gene Name

proteoglycan 3

Synonyms

major basic protein 2, MBP2

MMRRC Submission

040873-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84818559-84824230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84823334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 170 (K170E)

Ref Sequence

ENSEMBL: ENSMUSP00000028466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028466]

AlphaFold

Q9JL95

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028466
AA Change: K170E

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028466
Gene: ENSMUSG00000027072
AA Change: K170E

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
CLECT	90	221	2.29e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135939

Meta Mutation Damage Score

0.1914

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	G	2: 48,760,331 (GRCm39)	E29G	possibly damaging	Het
Aff3	A	G	1: 38,291,770 (GRCm39)		probably benign	Het
AW146154	A	G	7: 41,129,794 (GRCm39)	C441R	probably damaging	Het
Cacna1a	T	C	8: 85,310,271 (GRCm39)	V1443A	possibly damaging	Het
Commd1	T	A	11: 22,924,102 (GRCm39)	F292Y	probably benign	Het
Ct45a	C	T	X: 55,590,568 (GRCm39)	V78I	probably benign	Het
Ddx18	A	G	1: 121,489,106 (GRCm39)	Y314H	probably damaging	Het
Dna2	C	T	10: 62,802,576 (GRCm39)	T898I	probably damaging	Het
Epc1	C	A	18: 6,440,091 (GRCm39)	V59L	possibly damaging	Het
Etv6	C	A	6: 134,239,975 (GRCm39)		probably benign	Het
Fam118a	A	G	15: 84,937,998 (GRCm39)	D293G	possibly damaging	Het
Gzmn	A	C	14: 56,404,361 (GRCm39)	S159A	probably benign	Het
Insc	A	G	7: 114,390,207 (GRCm39)	D26G	probably damaging	Het
L1td1	A	G	4: 98,626,072 (GRCm39)	R756G	probably damaging	Het
Ltk	A	G	2: 119,582,318 (GRCm39)	L499P	probably benign	Het
Mast4	A	T	13: 102,923,927 (GRCm39)	L291M	probably damaging	Het
Nefm	G	T	14: 68,361,797 (GRCm39)	R156S	probably damaging	Het
Nppc	T	A	1: 86,597,580 (GRCm39)	N63Y	probably damaging	Het
Or5p79	A	T	7: 108,221,924 (GRCm39)	I302F	probably damaging	Het
Or6c69	A	G	10: 129,747,314 (GRCm39)	S278P	probably damaging	Het
Pcdhb7	T	C	18: 37,474,936 (GRCm39)	V24A	probably benign	Het
Pcm1	C	A	8: 41,733,114 (GRCm39)	Q787K	probably damaging	Het
Slc25a54	T	C	3: 109,019,370 (GRCm39)	S325P	probably damaging	Het
Slc44a1	T	C	4: 53,563,286 (GRCm39)	V671A	probably benign	Het
Spock3	T	A	8: 63,597,049 (GRCm39)		probably null	Het
Stk-ps2	G	A	1: 46,069,081 (GRCm39)		noncoding transcript	Het
Svep1	T	G	4: 58,084,833 (GRCm39)	D1835A	possibly damaging	Het
Tmcc3	A	G	10: 94,415,179 (GRCm39)	T294A	probably benign	Het
Tsen54	A	G	11: 115,711,237 (GRCm39)	N62S	probably benign	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Vmn2r18	G	A	5: 151,508,644 (GRCm39)	A160V	probably damaging	Het
Wnk4	T	C	11: 101,160,114 (GRCm39)	V661A	probably benign	Het
Zfhx4	A	G	3: 5,468,404 (GRCm39)	Y2854C	probably damaging	Het
Zfp563	G	T	17: 33,323,902 (GRCm39)	E166*	probably null	Het
Zfp687	T	A	3: 94,919,391 (GRCm39)	N127I	probably damaging	Het
Zfp958	T	A	8: 4,676,226 (GRCm39)		probably null	Het

Other mutations in Prg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Prg3	APN	2	84,819,091 (GRCm39)	missense	probably benign	0.01
IGL00778:Prg3	APN	2	84,824,076 (GRCm39)	missense	probably damaging	1.00
IGL03352:Prg3	APN	2	84,823,370 (GRCm39)	missense	probably damaging	1.00
R4721:Prg3	UTSW	2	84,821,750 (GRCm39)	missense	possibly damaging	0.89
R7104:Prg3	UTSW	2	84,819,097 (GRCm39)	missense	probably benign	0.00
R7183:Prg3	UTSW	2	84,823,367 (GRCm39)	missense	probably damaging	1.00
R7183:Prg3	UTSW	2	84,821,848 (GRCm39)	missense	probably benign	0.06
R7574:Prg3	UTSW	2	84,819,746 (GRCm39)	missense	probably damaging	0.97
R8308:Prg3	UTSW	2	84,819,676 (GRCm39)	missense	probably benign	0.01
R8559:Prg3	UTSW	2	84,819,680 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TACAGTACAGTTGGATAAACCTGGC -3'
(R):5'- TTGAAGAGGTGTGTCCAGCC -3'

Sequencing Primer
(F):5'- AAACCTGGCCTATATGGTGTCCAG -3'
(R):5'- TGTGTCCAGCCAGCTCGAAG -3'

Posted On

2015-03-18