Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00092:Plscr2'

1288

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plscr2

Ensembl Gene

ENSMUSG00000032372

Gene Name

phospholipid scramblase 2

Synonyms

PL scramblase

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00092

Quality Score

Status

Chromosome

Chromosomal Location

92157655-92179805 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 92172685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136481 (fasta)

Gene Model

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

AlphaFold

Q9DCW2

Predicted Effect

probably benign
Transcript: ENSMUST00000034932

SMART Domains

Protein: ENSMUSP00000034932
Gene: ENSMUSG00000032372

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 benign
Transcript: ENSMUST00000180154

SMART Domains

Protein: ENSMUSP00000136481
Gene: ENSMUSG00000032372

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,892,430 (GRCm39)	D443G	probably benign	Het
Atg16l1	T	C	1: 87,693,119 (GRCm39)	I28T	possibly damaging	Het
Bpi	T	A	2: 158,116,716 (GRCm39)	V371E	probably damaging	Het
Cd109	T	G	9: 78,524,251 (GRCm39)	V55G	probably damaging	Het
Cd300c2	T	C	11: 114,892,375 (GRCm39)		probably benign	Het
Cic	C	T	7: 24,991,549 (GRCm39)	R1280C	probably damaging	Het
Cngb1	G	A	8: 95,968,812 (GRCm39)		probably benign	Het
Cntn4	G	T	6: 106,483,186 (GRCm39)	C247F	probably damaging	Het
Disp3	C	T	4: 148,325,991 (GRCm39)	V1256I	probably benign	Het
Farsb	A	T	1: 78,439,630 (GRCm39)	S338T	probably benign	Het
Fcnb	T	C	2: 27,966,813 (GRCm39)	N240S	probably benign	Het
Flg2	A	G	3: 93,127,162 (GRCm39)	S5G	possibly damaging	Het
Git1	T	C	11: 77,396,783 (GRCm39)	L635P	probably benign	Het
Gm21985	T	G	2: 112,181,679 (GRCm39)	W685G	probably damaging	Het
Gpt2	T	C	8: 86,238,953 (GRCm39)	V262A	probably benign	Het
Hecw2	A	G	1: 53,869,896 (GRCm39)	V1444A	probably damaging	Het
Herc1	T	C	9: 66,391,248 (GRCm39)	V4017A	probably benign	Het
Klhl17	T	C	4: 156,318,147 (GRCm39)	T129A	possibly damaging	Het
Krt84	T	G	15: 101,437,170 (GRCm39)	D331A	probably damaging	Het
Lrrc9	C	T	12: 72,533,017 (GRCm39)	T963M	possibly damaging	Het
Mtcl1	C	T	17: 66,651,314 (GRCm39)	V935I	probably benign	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Myocd	T	C	11: 65,071,770 (GRCm39)		probably null	Het
Nid1	A	G	13: 13,650,977 (GRCm39)	N505D	probably damaging	Het
Ninj1	A	T	13: 49,347,210 (GRCm39)		probably null	Het
Or14a260	C	T	7: 85,985,269 (GRCm39)	V112I	probably benign	Het
Or1x6	C	A	11: 50,939,227 (GRCm39)	Q98K	probably benign	Het
Or4d10c	A	T	19: 12,065,357 (GRCm39)	D266E	probably benign	Het
Ppfia2	A	G	10: 106,655,353 (GRCm39)	T307A	probably benign	Het
Sart3	T	C	5: 113,884,730 (GRCm39)	R625G	probably benign	Het
Sohlh2	T	A	3: 55,115,236 (GRCm39)	L407H	probably damaging	Het
Sorcs1	A	G	19: 50,178,492 (GRCm39)	S877P	probably damaging	Het
Stat1	T	C	1: 52,161,754 (GRCm39)	M1T	probably null	Het
Szt2	C	T	4: 118,241,447 (GRCm39)		probably benign	Het
Tars3	G	T	7: 65,302,007 (GRCm39)		probably null	Het
Terb2	T	A	2: 122,028,867 (GRCm39)	S141R	probably benign	Het
Tgfbrap1	T	C	1: 43,099,283 (GRCm39)	Y177C	probably damaging	Het
Trappc9	A	T	15: 72,897,875 (GRCm39)	I169N	possibly damaging	Het
Trim47	A	G	11: 115,997,020 (GRCm39)	L578P	probably damaging	Het
Usp34	G	A	11: 23,386,020 (GRCm39)	R2149H	probably damaging	Het
Vmn2r90	T	C	17: 17,953,758 (GRCm39)	S641P	probably benign	Het
Vwa5a	T	A	9: 38,649,110 (GRCm39)		probably null	Het
Zzef1	T	A	11: 72,765,952 (GRCm39)	I1493N	probably benign	Het

Other mutations in Plscr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02496:Plscr2	APN	9	92,171,716 (GRCm39)	missense	probably benign	0.12
R0401:Plscr2	UTSW	9	92,164,188 (GRCm39)	missense	probably benign
R0620:Plscr2	UTSW	9	92,169,707 (GRCm39)	missense	probably benign	0.10
R0879:Plscr2	UTSW	9	92,169,846 (GRCm39)	missense	probably damaging	1.00
R1829:Plscr2	UTSW	9	92,172,808 (GRCm39)	missense	probably damaging	1.00
R2022:Plscr2	UTSW	9	92,177,647 (GRCm39)	missense	probably damaging	1.00
R2237:Plscr2	UTSW	9	92,172,877 (GRCm39)	missense	probably damaging	1.00
R2971:Plscr2	UTSW	9	92,172,724 (GRCm39)	nonsense	probably null
R3552:Plscr2	UTSW	9	92,172,848 (GRCm39)	missense	probably damaging	1.00
R3762:Plscr2	UTSW	9	92,173,133 (GRCm39)	missense	probably damaging	1.00
R4214:Plscr2	UTSW	9	92,169,790 (GRCm39)	missense	probably benign	0.09
R4528:Plscr2	UTSW	9	92,171,746 (GRCm39)	missense	possibly damaging	0.87
R4679:Plscr2	UTSW	9	92,169,823 (GRCm39)	missense	probably benign	0.13
R4708:Plscr2	UTSW	9	92,173,067 (GRCm39)	missense	probably damaging	1.00
R4709:Plscr2	UTSW	9	92,173,067 (GRCm39)	missense	probably damaging	1.00
R4831:Plscr2	UTSW	9	92,173,130 (GRCm39)	missense	possibly damaging	0.89
R5244:Plscr2	UTSW	9	92,173,102 (GRCm39)	missense	probably benign	0.33
R6102:Plscr2	UTSW	9	92,169,721 (GRCm39)	missense	probably benign	0.32
R6298:Plscr2	UTSW	9	92,172,772 (GRCm39)	missense	probably benign	0.05
R6893:Plscr2	UTSW	9	92,172,757 (GRCm39)	missense	probably benign	0.05
R7320:Plscr2	UTSW	9	92,173,193 (GRCm39)	critical splice donor site	probably null
R7876:Plscr2	UTSW	9	92,169,781 (GRCm39)	missense	probably benign
R8220:Plscr2	UTSW	9	92,177,713 (GRCm39)	missense	probably damaging	1.00
R8340:Plscr2	UTSW	9	92,173,130 (GRCm39)	missense	probably benign	0.00

Posted On

2011-07-12