Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01672:Plscr3'

103518

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plscr3

Ensembl Gene

ENSMUSG00000019461

Gene Name

phospholipid scramblase 3

Synonyms

2210403O21Rik, 2610037N06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01672

Quality Score

Status

Chromosome

Chromosomal Location

69737202-69742884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69738508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 91 (K91R)

Ref Sequence

ENSEMBL: ENSMUSP00000123549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001626] [ENSMUST00000019605] [ENSMUST00000108628] [ENSMUST00000108632] [ENSMUST00000108633] [ENSMUST00000152566] [ENSMUST00000156507]

AlphaFold

Q9JIZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000001626

SMART Domains

Protein: ENSMUSP00000001626
Gene: ENSMUSG00000001583

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
Blast:TyrKc	43	80	1e-5	BLAST
TyrKc	116	378	1.2e-108	SMART
SH3	384	440	4.11e-1	SMART
low complexity region	504	517	N/A	INTRINSIC
low complexity region	528	544	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019605
AA Change: K91R

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000019605
Gene: ENSMUSG00000019461
AA Change: K91R

Domain	Start	End	E-Value	Type
low complexity region	6	28	N/A	INTRINSIC
low complexity region	32	49	N/A	INTRINSIC
Pfam:Scramblase	63	285	1.7e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108628

SMART Domains

Protein: ENSMUSP00000104268
Gene: ENSMUSG00000001583

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
Blast:TyrKc	43	80	1e-5	BLAST
TyrKc	116	378	1.2e-108	SMART
SH3	384	445	6.1e-1	SMART
low complexity region	509	522	N/A	INTRINSIC
low complexity region	533	549	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108632
AA Change: K91R

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104272
Gene: ENSMUSG00000019461
AA Change: K91R

Domain	Start	End	E-Value	Type
low complexity region	6	28	N/A	INTRINSIC
low complexity region	32	49	N/A	INTRINSIC
Pfam:Scramblase	63	285	1.7e-88	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108633
AA Change: K91R

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000104273
Gene: ENSMUSG00000019461
AA Change: K91R

Domain	Start	End	E-Value	Type
low complexity region	6	28	N/A	INTRINSIC
low complexity region	32	49	N/A	INTRINSIC
Pfam:Scramblase	63	285	1.7e-88	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152566
AA Change: K91R

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123549
Gene: ENSMUSG00000019461
AA Change: K91R

Domain	Start	End	E-Value	Type
low complexity region	6	28	N/A	INTRINSIC
low complexity region	32	49	N/A	INTRINSIC
Pfam:Scramblase	63	224	2.1e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156507

SMART Domains

Protein: ENSMUSP00000120585
Gene: ENSMUSG00000001583

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	76	8.4e-17	PFAM
Pfam:Pkinase	1	97	1.2e-6	PFAM
low complexity region	127	140	N/A	INTRINSIC
low complexity region	151	167	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display lipid-engorged adipocytes, increased abdominal fat stores, mild hyperglycemia, dyslipidemia, impaired glucose tolerance, insulin resistance, altered plasma adiponectin and leptin levels, and impaired insulin-stimulated glucose uptake by adipocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,618,316 (GRCm39)	E203G	probably damaging	Het
Ano1	G	T	7: 144,209,412 (GRCm39)	Q206K	probably damaging	Het
Ap4e1	T	A	2: 126,894,109 (GRCm39)	S620T	probably damaging	Het
Arfip1	A	T	3: 84,455,339 (GRCm39)		probably benign	Het
Atp8a2	A	T	14: 59,928,982 (GRCm39)	M1024K	probably benign	Het
Brap	T	C	5: 121,816,908 (GRCm39)		probably benign	Het
Calcrl	T	A	2: 84,175,414 (GRCm39)	T287S	probably damaging	Het
Clptm1l	G	A	13: 73,755,992 (GRCm39)		probably null	Het
Cpb1	T	A	3: 20,329,585 (GRCm39)	Q47L	probably null	Het
Cse1l	T	C	2: 166,771,887 (GRCm39)	I402T	probably damaging	Het
Dnah17	A	G	11: 117,932,986 (GRCm39)	S3591P	probably damaging	Het
Dst	T	G	1: 34,264,774 (GRCm39)	I2322S	probably damaging	Het
Dync2h1	G	A	9: 7,118,884 (GRCm39)	R2194*	probably null	Het
Ecpas	A	G	4: 58,814,041 (GRCm39)	V1355A	probably benign	Het
Eno4	A	G	19: 58,931,977 (GRCm39)	N30S	possibly damaging	Het
Ero1a	A	C	14: 45,529,887 (GRCm39)	S349A	probably benign	Het
Fat1	C	T	8: 45,493,737 (GRCm39)	T3938I	probably benign	Het
Focad	T	C	4: 88,278,827 (GRCm39)		probably null	Het
Gnai3	A	T	3: 108,016,775 (GRCm39)	I343N	probably damaging	Het
Golph3	T	C	15: 12,349,643 (GRCm39)	V221A	probably benign	Het
Gpr153	C	A	4: 152,364,370 (GRCm39)	S142*	probably null	Het
Itpr1	C	A	6: 108,357,993 (GRCm39)	Y557*	probably null	Het
Nat8f5	A	G	6: 85,794,934 (GRCm39)	Y9H	probably damaging	Het
Nbas	T	C	12: 13,429,650 (GRCm39)	V1045A	possibly damaging	Het
Nol8	T	C	13: 49,828,883 (GRCm39)	V1047A	possibly damaging	Het
Or2t48	A	C	11: 58,419,948 (GRCm39)	L288R	probably benign	Het
Or5p1	T	A	7: 107,916,725 (GRCm39)	V208E	probably benign	Het
Osbpl1a	G	A	18: 12,899,881 (GRCm39)	T178I	probably damaging	Het
Palld	T	A	8: 62,330,536 (GRCm39)	I114F	probably benign	Het
Pcca	A	T	14: 122,927,557 (GRCm39)	Y440F	probably benign	Het
Pclo	T	C	5: 14,728,549 (GRCm39)		probably benign	Het
Piwil1	T	C	5: 128,827,037 (GRCm39)	M599T	possibly damaging	Het
Pkd1l2	T	A	8: 117,807,471 (GRCm39)	Y189F	possibly damaging	Het
Rars1	A	T	11: 35,699,380 (GRCm39)	C638S	probably damaging	Het
Relb	T	A	7: 19,345,619 (GRCm39)	H406L	probably benign	Het
Ros1	G	T	10: 51,977,899 (GRCm39)	T1449K	possibly damaging	Het
Samd3	A	T	10: 26,146,067 (GRCm39)	N364I	possibly damaging	Het
Scn2a	T	A	2: 65,582,278 (GRCm39)	I1542N	probably damaging	Het
Sdk1	T	A	5: 142,170,930 (GRCm39)	M1931K	probably benign	Het
Sphk2	T	C	7: 45,361,077 (GRCm39)	D309G	possibly damaging	Het
Stil	T	C	4: 114,889,986 (GRCm39)	S825P	probably damaging	Het
Swt1	C	T	1: 151,270,359 (GRCm39)		probably null	Het
Virma	C	T	4: 11,527,792 (GRCm39)	R1228C	probably damaging	Het
Xirp2	T	A	2: 67,338,846 (GRCm39)	H362Q	probably benign	Het
Zfp451	C	A	1: 33,801,247 (GRCm39)	M1056I	probably benign	Het
Zfp458	T	A	13: 67,405,300 (GRCm39)	M380L	probably benign	Het

Other mutations in Plscr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02496:Plscr3	APN	11	69,738,209 (GRCm39)	unclassified	probably benign
R0256:Plscr3	UTSW	11	69,740,880 (GRCm39)	missense	probably damaging	1.00
R0639:Plscr3	UTSW	11	69,738,820 (GRCm39)	missense	probably benign	0.06
R3824:Plscr3	UTSW	11	69,740,964 (GRCm39)	missense	probably benign	0.04
R3825:Plscr3	UTSW	11	69,740,964 (GRCm39)	missense	probably benign	0.04
R3919:Plscr3	UTSW	11	69,738,236 (GRCm39)	unclassified	probably benign
R5047:Plscr3	UTSW	11	69,740,917 (GRCm39)	splice site	probably null
R6306:Plscr3	UTSW	11	69,738,472 (GRCm39)	splice site	probably null
R6972:Plscr3	UTSW	11	69,738,784 (GRCm39)	missense	probably damaging	1.00
R7358:Plscr3	UTSW	11	69,738,316 (GRCm39)	missense	unknown
R8714:Plscr3	UTSW	11	69,738,838 (GRCm39)	missense	probably benign	0.01
R9667:Plscr3	UTSW	11	69,738,631 (GRCm39)	missense	probably benign	0.01

Posted On

2014-01-21