Mutagenetix > Incidental Mutation

Incidental Mutation 'R3919:Plscr3'

306907

Institutional Source

Beutler Lab

Gene Symbol

Plscr3

Ensembl Gene

ENSMUSG00000019461

Gene Name

phospholipid scramblase 3

Synonyms

2210403O21Rik, 2610037N06Rik

MMRRC Submission

040817-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3919 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69737202-69742884 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 69738236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120585 (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

unknown
Transcript: ENSMUST00000019605
AA Change: V28E

SMART Domains

Protein: ENSMUSP00000019605
Gene: ENSMUSG00000019461
AA Change: V28E

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

unknown
Transcript: ENSMUST00000108632
AA Change: V28E

SMART Domains

Protein: ENSMUSP00000104272
Gene: ENSMUSG00000019461
AA Change: V28E

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

unknown
Transcript: ENSMUST00000108633
AA Change: V28E

SMART Domains

Protein: ENSMUSP00000104273
Gene: ENSMUSG00000019461
AA Change: V28E

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

unknown
Transcript: ENSMUST00000152566
AA Change: V28E

SMART Domains

Protein: ENSMUSP00000123549
Gene: ENSMUSG00000019461
AA Change: V28E

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

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

Validation Efficiency

98% (49/50)

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
1700028J19Rik	G	T	7: 43,879,852 (GRCm39)		probably benign	Het
4930567H17Rik	C	T	X: 69,438,135 (GRCm39)	A53T	probably benign	Het
Abcb5	A	G	12: 118,854,353 (GRCm39)	M854T	possibly damaging	Het
Akap9	T	A	5: 4,011,764 (GRCm39)	Y822*	probably null	Het
Apoe	T	C	7: 19,430,472 (GRCm39)	T257A	probably benign	Het
Atm	C	A	9: 53,403,578 (GRCm39)	A1365S	probably benign	Het
Bmp2k	T	C	5: 97,222,599 (GRCm39)	S674P	unknown	Het
Cd177	T	C	7: 24,443,858 (GRCm39)	S747G	probably benign	Het
Cdk5rap2	A	G	4: 70,298,460 (GRCm39)	F91L	possibly damaging	Het
Chil4	A	T	3: 106,109,848 (GRCm39)	N388K	probably benign	Het
Dnah3	G	A	7: 119,550,303 (GRCm39)	L3328F	probably damaging	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
Ercc5	C	A	1: 44,201,091 (GRCm39)	T217K	probably damaging	Het
Esyt1	T	A	10: 128,356,905 (GRCm39)		probably benign	Het
Ifih1	C	A	2: 62,453,845 (GRCm39)		probably benign	Het
Ints12	A	T	3: 132,806,444 (GRCm39)	T124S	probably benign	Het
Kdm5d	T	C	Y: 939,914 (GRCm39)	L1022P	probably damaging	Het
Lama2	T	A	10: 26,994,501 (GRCm39)	N1803Y	probably damaging	Het
Lpcat2	C	T	8: 93,640,902 (GRCm39)	T449I	probably damaging	Het
Ly6c2	A	T	15: 74,980,613 (GRCm39)		probably null	Het
Mast3	T	C	8: 71,232,066 (GRCm39)	K1304E	probably benign	Het
Mdm4	T	C	1: 132,922,306 (GRCm39)	K279E	possibly damaging	Het
Mest	G	A	6: 30,742,749 (GRCm39)	S132N	probably benign	Het
Mras	T	A	9: 99,293,473 (GRCm39)	I56F	probably damaging	Het
Mrgprb1	T	C	7: 48,097,829 (GRCm39)	K28E	probably benign	Het
Myrip	G	A	9: 120,261,695 (GRCm39)	G436D	probably damaging	Het
Nr2e3	T	A	9: 59,850,723 (GRCm39)	T379S	probably damaging	Het
Or8k27	A	G	2: 86,275,762 (GRCm39)	V188A	probably benign	Het
Pola1	C	A	X: 92,505,078 (GRCm39)	R1313L	probably benign	Het
Ppt2	T	C	17: 34,841,897 (GRCm39)	N213S	probably damaging	Het
Prelid2	T	A	18: 42,070,740 (GRCm39)	D31V	possibly damaging	Het
Psmb9	C	T	17: 34,402,588 (GRCm39)		probably null	Het
Rec8	A	G	14: 55,858,716 (GRCm39)	T164A	probably benign	Het
Rnf103	G	A	6: 71,487,331 (GRCm39)	R654Q	probably benign	Het
Setdb2	T	A	14: 59,656,616 (GRCm39)	I250F	probably damaging	Het
Slurp1	A	T	15: 74,598,659 (GRCm39)	*111K	probably null	Het
Sphkap	T	G	1: 83,254,179 (GRCm39)	E903A	probably damaging	Het
Sst	T	C	16: 23,708,591 (GRCm39)	D80G	possibly damaging	Het
Stat4	C	T	1: 52,135,981 (GRCm39)	T430I	possibly damaging	Het
Tmprss4	C	T	9: 45,091,964 (GRCm39)	V174M	probably benign	Het
Trim6	A	T	7: 103,882,057 (GRCm39)	Y436F	probably damaging	Het
Ttc28	C	A	5: 111,433,245 (GRCm39)	A2093E	possibly damaging	Het
Vav3	A	G	3: 109,434,854 (GRCm39)	N462D	possibly damaging	Het
Whrn	G	T	4: 63,413,421 (GRCm39)	S17*	probably null	Het
Zfhx4	T	A	3: 5,464,175 (GRCm39)	S1469R	possibly damaging	Het
Zfp108	T	A	7: 23,960,257 (GRCm39)	C283S	probably damaging	Het

Other mutations in Plscr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01672:Plscr3	APN	11	69,738,508 (GRCm39)	missense	possibly damaging	0.54
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
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

Predicted Primers

PCR Primer
(F):5'- GAATGTGCTCAGACTGGCTG -3'
(R):5'- TCCGTCACCTCGAACTTCAG -3'

Sequencing Primer
(F):5'- TCAGACTGGCTGCGTGG -3'
(R):5'- AACTTCAGTTCTCCTCCCAGC -3'

Posted On

2015-04-17