Mutagenetix > Incidental Mutation

Incidental Mutation 'R3919:Prelid2'

306917

Institutional Source

Beutler Lab

Gene Symbol

Prelid2

Ensembl Gene

ENSMUSG00000056671

Gene Name

PRELI domain containing 2

Synonyms

C330008K14Rik, 1700003A01Rik

MMRRC Submission

040817-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3919 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41875696-41951194 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41937675 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 31 (D31V)

Ref Sequence

ENSEMBL: ENSMUSP00000064661 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070949]

AlphaFold

Q0VBB0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070949
AA Change: D31V

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000064661
Gene: ENSMUSG00000056671
AA Change: D31V

Domain	Start	End	E-Value	Type
Pfam:PRELI	16	173	2.8e-51	PFAM

Meta Mutation Damage Score

0.1786

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	G	T	7: 44,230,428		probably benign	Het
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
Abcb5	A	G	12: 118,890,618	M854T	possibly damaging	Het
Akap9	T	A	5: 3,961,764	Y822*	probably null	Het
Apoe	T	C	7: 19,696,547	T257A	probably benign	Het
Atm	C	A	9: 53,492,278	A1365S	probably benign	Het
Bmp2k	T	C	5: 97,074,740	S674P	unknown	Het
Cd177	T	C	7: 24,744,433	S747G	probably benign	Het
Cdk5rap2	A	G	4: 70,380,223	F91L	possibly damaging	Het
Chil4	A	T	3: 106,202,532	N388K	probably benign	Het
Dnah3	G	A	7: 119,951,080	L3328F	probably damaging	Het
Dysf	G	A	6: 84,186,509		probably null	Het
Ercc5	C	A	1: 44,161,931	T217K	probably damaging	Het
Esyt1	T	A	10: 128,521,036		probably benign	Het
Ifih1	C	A	2: 62,623,501		probably benign	Het
Ints12	A	T	3: 133,100,683	T124S	probably benign	Het
Kdm5d	T	C	Y: 939,914	L1022P	probably damaging	Het
Lama2	T	A	10: 27,118,505	N1803Y	probably damaging	Het
Lpcat2	C	T	8: 92,914,274	T449I	probably damaging	Het
Ly6c2	A	T	15: 75,108,764		probably null	Het
Mast3	T	C	8: 70,779,422	K1304E	probably benign	Het
Mdm4	T	C	1: 132,994,568	K279E	possibly damaging	Het
Mest	G	A	6: 30,742,750	S132N	probably benign	Het
Mras	T	A	9: 99,411,420	I56F	probably damaging	Het
Mrgprb1	T	C	7: 48,448,081	K28E	probably benign	Het
Myrip	G	A	9: 120,432,629	G436D	probably damaging	Het
Nr2e3	T	A	9: 59,943,440	T379S	probably damaging	Het
Olfr1065	A	G	2: 86,445,418	V188A	probably benign	Het
Plscr3	T	A	11: 69,847,410		probably benign	Het
Pola1	C	A	X: 93,461,472	R1313L	probably benign	Het
Ppt2	T	C	17: 34,622,923	N213S	probably damaging	Het
Psmb9	C	T	17: 34,183,614		probably null	Het
Rec8	A	G	14: 55,621,259	T164A	probably benign	Het
Rnf103	G	A	6: 71,510,347	R654Q	probably benign	Het
Setdb2	T	A	14: 59,419,167	I250F	probably damaging	Het
Slurp1	A	T	15: 74,726,810	*111K	probably null	Het
Sphkap	T	G	1: 83,276,458	E903A	probably damaging	Het
Sst	T	C	16: 23,889,841	D80G	possibly damaging	Het
Stat4	C	T	1: 52,096,822	T430I	possibly damaging	Het
Tmprss4	C	T	9: 45,180,666	V174M	probably benign	Het
Trim6	A	T	7: 104,232,850	Y436F	probably damaging	Het
Ttc28	C	A	5: 111,285,379	A2093E	possibly damaging	Het
Vav3	A	G	3: 109,527,538	N462D	possibly damaging	Het
Whrn	G	T	4: 63,495,184	S17*	probably null	Het
Zfhx4	T	A	3: 5,399,115	S1469R	possibly damaging	Het
Zfp108	T	A	7: 24,260,832	C283S	probably damaging	Het

Other mutations in Prelid2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00709:Prelid2	APN	18	41912423	missense	probably damaging	1.00
IGL01731:Prelid2	APN	18	41937649	missense	probably benign	0.03
G1patch:Prelid2	UTSW	18	41912449	missense	possibly damaging	0.82
R0217:Prelid2	UTSW	18	41935252	splice site	probably benign
R0556:Prelid2	UTSW	18	41951180	start gained	probably benign
R0627:Prelid2	UTSW	18	41937652	missense	possibly damaging	0.50
R0848:Prelid2	UTSW	18	41935224	missense	probably damaging	0.98
R1522:Prelid2	UTSW	18	41881267	missense	probably benign
R4131:Prelid2	UTSW	18	41951159	missense	possibly damaging	0.94
R4422:Prelid2	UTSW	18	41912396	missense	probably benign	0.01
R4892:Prelid2	UTSW	18	41951144	missense	possibly damaging	0.86
R6062:Prelid2	UTSW	18	41912465	missense	probably benign	0.00
R6725:Prelid2	UTSW	18	41912449	missense	possibly damaging	0.82
R7276:Prelid2	UTSW	18	41912422	missense	possibly damaging	0.65
R7739:Prelid2	UTSW	18	41912368	critical splice donor site	probably null
R7941:Prelid2	UTSW	18	41932751	nonsense	probably null
R8093:Prelid2	UTSW	18	41932635	missense	probably damaging	1.00
R8202:Prelid2	UTSW	18	41932737	missense	possibly damaging	0.95
R8393:Prelid2	UTSW	18	41881248	missense	probably benign	0.08
R9010:Prelid2	UTSW	18	41932716	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACAAGAGCCCTGCTTAAGATG -3'
(R):5'- CCAAGATCCTTGATTTAAAACTGGG -3'

Sequencing Primer
(F):5'- GCCCTGCTTAAGATGTAATGGAC -3'
(R):5'- AATGCCTTACAGCTGGATCTCATGG -3'

Posted On

2015-04-17