Mutagenetix > Incidental Mutation

Incidental Mutation 'R7018:Plscr1'

545454

Institutional Source

Beutler Lab

Gene Symbol

Plscr1

Ensembl Gene

ENSMUSG00000032369

Gene Name

phospholipid scramblase 1

Synonyms

Tras1, TRA1, NOR1, MmTRA1a, MmTRA1b, Tras2, MuPLSCR2

MMRRC Submission

045119-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92132265-92154034 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92146715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 119 (V119D)

Ref Sequence

ENSEMBL: ENSMUSP00000139479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093801] [ENSMUST00000186364]

AlphaFold

Q9JJ00

Predicted Effect

probably damaging
Transcript: ENSMUST00000093801
AA Change: V119D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091318
Gene: ENSMUSG00000032369
AA Change: V119D

Domain	Start	End	E-Value	Type
low complexity region	13	33	N/A	INTRINSIC
low complexity region	39	72	N/A	INTRINSIC
Pfam:Scramblase	95	316	2.4e-100	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000186364
AA Change: V119D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139479
Gene: ENSMUSG00000032369
AA Change: V119D

Domain	Start	End	E-Value	Type
low complexity region	13	33	N/A	INTRINSIC
low complexity region	39	72	N/A	INTRINSIC
Pfam:Scramblase	95	316	2.4e-100	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (64/64)

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display a grossly normal phenotype although there are hematopoietic abnormalities in newborn mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcdd1	G	T	18: 63,070,120 (GRCm39)	R129L	probably damaging	Het
Arhgef28	C	T	13: 98,101,943 (GRCm39)	V844I	probably damaging	Het
Arhgef5	T	C	6: 43,265,665 (GRCm39)	V1569A	probably damaging	Het
Atr	T	A	9: 95,748,747 (GRCm39)	S431T	probably benign	Het
Cdh11	T	C	8: 103,360,953 (GRCm39)	D795G	possibly damaging	Het
Crygf	T	C	1: 65,967,130 (GRCm39)	S85P	probably benign	Het
Dip2c	T	A	13: 9,709,314 (GRCm39)	Y1385N	probably damaging	Het
Dnah14	G	A	1: 181,454,509 (GRCm39)	V840I	possibly damaging	Het
Dsg1a	T	C	18: 20,461,795 (GRCm39)	F299L	possibly damaging	Het
Fgfr4	A	T	13: 55,314,013 (GRCm39)	S576C	probably damaging	Het
Frmd8	T	C	19: 5,919,546 (GRCm39)	D167G	probably damaging	Het
Gm5105	G	A	3: 137,755,319 (GRCm39)	T89I	unknown	Het
Grhl1	C	T	12: 24,625,996 (GRCm39)	S35L	possibly damaging	Het
Gsn	A	G	2: 35,183,518 (GRCm39)	E242G	probably benign	Het
Hcrtr1	A	G	4: 130,029,661 (GRCm39)	I140T	probably damaging	Het
Ifnlr1	T	C	4: 135,431,135 (GRCm39)	Y208H	possibly damaging	Het
Ighv1-58	T	C	12: 115,275,985 (GRCm39)	Y51C	probably damaging	Het
Iqcj	T	A	3: 67,948,580 (GRCm39)	Y21*	probably null	Het
Kcnc4	T	C	3: 107,366,178 (GRCm39)	Y10C	probably benign	Het
Kcnk7	G	T	19: 5,756,160 (GRCm39)	G129W	probably damaging	Het
Kcnq2	T	A	2: 180,723,517 (GRCm39)	R620*	probably null	Het
Klk13	C	A	7: 43,376,126 (GRCm39)	P267Q	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
L3mbtl4	G	A	17: 68,793,938 (GRCm39)	R314H	probably damaging	Het
Lamc2	T	A	1: 153,012,488 (GRCm39)	M729L	probably benign	Het
Lyst	T	G	13: 13,918,044 (GRCm39)		probably null	Het
Med13l	G	A	5: 118,890,051 (GRCm39)	R1909H	probably damaging	Het
Mstn	T	A	1: 53,103,243 (GRCm39)	L193Q	possibly damaging	Het
Mylk	T	C	16: 34,820,796 (GRCm39)	V125A	possibly damaging	Het
Nalcn	T	A	14: 123,647,233 (GRCm39)	M547L	probably damaging	Het
Nckap5	A	G	1: 125,952,785 (GRCm39)	S1256P	probably damaging	Het
Nkain1	T	C	4: 130,532,118 (GRCm38)	Y189C	probably damaging	Het
Oosp3	T	A	19: 11,676,783 (GRCm39)	D47E	probably benign	Het
Or14j8	A	T	17: 38,263,393 (GRCm39)	I174N	probably damaging	Het
Or5d37	T	A	2: 87,923,600 (GRCm39)	I227F	probably benign	Het
Or5h25	A	G	16: 58,930,970 (GRCm39)	M1T	probably null	Het
Or5p66	T	G	7: 107,885,551 (GRCm39)	I261L	probably benign	Het
Pcdh15	G	T	10: 74,302,186 (GRCm39)	G942W	probably damaging	Het
Pcyox1l	C	A	18: 61,840,625 (GRCm39)		probably benign	Het
Peg3	T	C	7: 6,711,838 (GRCm39)	E1128G	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Prss56	A	T	1: 87,113,670 (GRCm39)	D258V	possibly damaging	Het
Ptpn23	T	G	9: 110,214,884 (GRCm39)	K85Q	possibly damaging	Het
Ranbp3l	C	A	15: 9,037,159 (GRCm39)	S7Y	probably benign	Het
Rnf31	T	C	14: 55,829,690 (GRCm39)	L85P	probably damaging	Het
Rptn	T	C	3: 93,305,207 (GRCm39)	C847R	possibly damaging	Het
Six4	T	A	12: 73,155,727 (GRCm39)	E413D	probably benign	Het
Slc30a2	G	A	4: 134,074,726 (GRCm39)	R161Q	probably damaging	Het
Sned1	T	C	1: 93,212,143 (GRCm39)	V1115A	probably damaging	Het
Spen	T	C	4: 141,220,755 (GRCm39)	K401E	unknown	Het
Srbd1	T	A	17: 86,443,843 (GRCm39)	R128W	possibly damaging	Het
Strc	A	T	2: 121,199,539 (GRCm39)	I1300N	probably damaging	Het
Susd1	T	G	4: 59,390,627 (GRCm39)	T230P	probably benign	Het
Thumpd2	G	T	17: 81,363,326 (GRCm39)	S47*	probably null	Het
Tmprss11a	C	T	5: 86,576,429 (GRCm39)	V141I	probably damaging	Het
Tmprss15	T	C	16: 78,821,741 (GRCm39)	Y438C	possibly damaging	Het
Tnfrsf1a	T	C	6: 125,333,914 (GRCm39)	S56P	probably damaging	Het
Ttc39d	T	C	17: 80,523,610 (GRCm39)	W90R	probably benign	Het
Utp25	A	G	1: 192,797,163 (GRCm39)	I563T	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdr20rt	A	T	12: 65,272,536 (GRCm39)		probably null	Het
Zfp646	C	A	7: 127,481,494 (GRCm39)	Q1224K	probably benign	Het

Other mutations in Plscr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00573:Plscr1	APN	9	92,146,732 (GRCm39)	missense	probably benign	0.15
IGL01592:Plscr1	APN	9	92,148,803 (GRCm39)	nonsense	probably null
IGL03139:Plscr1	APN	9	92,148,438 (GRCm39)	splice site	probably benign
IGL03291:Plscr1	APN	9	92,148,923 (GRCm39)	missense	probably damaging	1.00
PIT4791001:Plscr1	UTSW	9	92,145,150 (GRCm39)	nonsense	probably null
R0543:Plscr1	UTSW	9	92,140,099 (GRCm39)	critical splice acceptor site	probably null
R1344:Plscr1	UTSW	9	92,141,357 (GRCm39)	missense	unknown
R1618:Plscr1	UTSW	9	92,148,548 (GRCm39)	missense	probably damaging	0.99
R1840:Plscr1	UTSW	9	92,140,127 (GRCm39)	missense	unknown
R4726:Plscr1	UTSW	9	92,145,221 (GRCm39)	missense	probably damaging	0.99
R5231:Plscr1	UTSW	9	92,148,784 (GRCm39)	missense	probably damaging	1.00
R5632:Plscr1	UTSW	9	92,148,477 (GRCm39)	missense	probably damaging	0.99
R6245:Plscr1	UTSW	9	92,141,374 (GRCm39)	missense	unknown
R6928:Plscr1	UTSW	9	92,152,004 (GRCm39)	missense	possibly damaging	0.74
R7042:Plscr1	UTSW	9	92,153,588 (GRCm39)	missense	probably damaging	0.96
R8269:Plscr1	UTSW	9	92,145,095 (GRCm39)	missense	unknown
R9658:Plscr1	UTSW	9	92,148,535 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGCGTGAATGTGTTACAAATCAATC -3'
(R):5'- GGCCTTTATTTGGACAAACTGC -3'

Sequencing Primer
(F):5'- GGAGTAGATACTTTCCACAAA -3'
(R):5'- GGACAAACTGCTTCTATTCCTACG -3'

Posted On

2019-05-13