Mutagenetix > Incidental Mutations

Incidental Mutation 'R0879:Plscr2'

81931

Institutional Source

Beutler Lab

Gene Symbol

Plscr2

Ensembl Gene

ENSMUSG00000032372

Gene Name

phospholipid scramblase 2

Synonyms

PL scramblase

MMRRC Submission

039046-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0879 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92275602-92297752 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92287793 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 99 (Y99H)

Ref Sequence

ENSEMBL: ENSMUSP00000136481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034932] [ENSMUST00000113044] [ENSMUST00000180154]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034932
AA Change: Y99H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000034932
Gene: ENSMUSG00000032372
AA Change: Y99H

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
Pfam:Scramblase	84	305	5.1e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113044

SMART Domains

Protein: ENSMUSP00000108667
Gene: ENSMUSG00000032372

Domain	Start	End	E-Value	Type
Pfam:Scramblase	1	170	5.8e-71	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156772

Predicted Effect

probably damaging
Transcript: ENSMUST00000180154
AA Change: Y99H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000136481
Gene: ENSMUSG00000032372
AA Change: Y99H

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
Pfam:Scramblase	84	305	5.1e-94	PFAM

Meta Mutation Damage Score

0.6185

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.9%
20x: 96.3%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	T	A	9: 63,617,610		probably benign	Het
Adm	A	G	7: 110,628,352	D25G	possibly damaging	Het
Adprhl2	C	T	4: 126,316,617	V357I	probably benign	Het
Akap6	G	T	12: 52,880,799	R164L	probably damaging	Het
Baz2a	A	G	10: 128,121,304	N972S	probably damaging	Het
Brd2	A	T	17: 34,113,446	V232D	probably benign	Het
C6	A	G	15: 4,763,336		probably benign	Het
Ceacam5	A	C	7: 17,757,702	I666L	probably benign	Het
Col7a1	T	C	9: 108,976,091		probably benign	Het
Dnah17	C	T	11: 118,056,835		probably benign	Het
Dnah7a	A	T	1: 53,427,860	V3615E	possibly damaging	Het
Eml6	A	G	11: 29,850,816		probably null	Het
Enpp2	T	C	15: 54,877,930	E324G	probably damaging	Het
Fgd4	A	G	16: 16,477,449	V222A	probably damaging	Het
Gm4076	A	G	13: 85,127,207		noncoding transcript	Het
Gm4775	T	C	14: 106,100,793		noncoding transcript	Het
Igsf9b	T	C	9: 27,333,742	S1002P	probably damaging	Het
Jag1	A	G	2: 137,100,081	S244P	possibly damaging	Het
Klhl41	A	T	2: 69,683,483		probably benign	Het
Ltbr	A	G	6: 125,313,375		probably benign	Het
Megf8	A	G	7: 25,338,471	E804G	possibly damaging	Het
Mybpc1	G	A	10: 88,571,516		probably benign	Het
Npas4	T	C	19: 4,986,916	R407G	probably benign	Het
Oxnad1	T	A	14: 32,099,596	Y213N	probably damaging	Het
Pde6d	A	G	1: 86,545,801	F91S	probably benign	Het
Pelp1	A	G	11: 70,395,297		probably benign	Het
Rft1	T	C	14: 30,682,748		probably benign	Het
Ryr3	T	C	2: 113,030,243	Y30C	probably benign	Het
Selenbp2	A	G	3: 94,699,556	T108A	possibly damaging	Het
Stk32b	A	G	5: 37,459,596		probably benign	Het
Stra6	T	C	9: 58,135,204		probably null	Het
Usp17le	A	T	7: 104,769,647	L96Q	probably damaging	Het
Usp17le	G	T	7: 104,769,648	L96M	possibly damaging	Het
Vmn1r76	A	T	7: 11,930,735	I184N	probably benign	Het
Vmn2r102	T	C	17: 19,694,192	V673A	probably damaging	Het
Wdr17	T	G	8: 54,661,481	I667L	probably benign	Het
Zfp292	T	C	4: 34,811,218	T609A	probably benign	Het
Zfp821	T	C	8: 109,721,842	I135T	possibly damaging	Het
Zfp865	A	G	7: 5,031,343	T776A	probably benign	Het
Zp2	G	T	7: 120,135,534	P477Q	probably damaging	Het

Other mutations in Plscr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Plscr2	APN	9	92290632	splice site	probably benign
IGL02496:Plscr2	APN	9	92289663	missense	probably benign	0.12
R0401:Plscr2	UTSW	9	92282135	missense	probably benign
R0620:Plscr2	UTSW	9	92287654	missense	probably benign	0.10
R1829:Plscr2	UTSW	9	92290755	missense	probably damaging	1.00
R2022:Plscr2	UTSW	9	92295594	missense	probably damaging	1.00
R2237:Plscr2	UTSW	9	92290824	missense	probably damaging	1.00
R2971:Plscr2	UTSW	9	92290671	nonsense	probably null
R3552:Plscr2	UTSW	9	92290795	missense	probably damaging	1.00
R3762:Plscr2	UTSW	9	92291080	missense	probably damaging	1.00
R4214:Plscr2	UTSW	9	92287737	missense	probably benign	0.09
R4528:Plscr2	UTSW	9	92289693	missense	possibly damaging	0.87
R4679:Plscr2	UTSW	9	92287770	missense	probably benign	0.13
R4708:Plscr2	UTSW	9	92291014	missense	probably damaging	1.00
R4709:Plscr2	UTSW	9	92291014	missense	probably damaging	1.00
R4831:Plscr2	UTSW	9	92291077	missense	possibly damaging	0.89
R5244:Plscr2	UTSW	9	92291049	missense	probably benign	0.33
R6102:Plscr2	UTSW	9	92287668	missense	probably benign	0.32
R6298:Plscr2	UTSW	9	92290719	missense	probably benign	0.05
R6893:Plscr2	UTSW	9	92290704	missense	probably benign	0.05
R7320:Plscr2	UTSW	9	92291140	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACCAAGTTCCCCAGTCTGGTTATCC -3'
(R):5'- ACCTGTTTGTGCTCAGTAATGAAGTCC -3'

Sequencing Primer
(F):5'- TGGTTATCCAGGACCTCAGG -3'
(R):5'- tccttggtctttgagcctg -3'

Posted On

2013-11-08