Mutagenetix > Incidental Mutation

Incidental Mutation 'R4709:Plscr2'

355493

Institutional Source

Beutler Lab

Gene Symbol

Plscr2

Ensembl Gene

ENSMUSG00000032372

Gene Name

phospholipid scramblase 2

Synonyms

PL scramblase

MMRRC Submission

042018-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4709 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92157655-92179805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92173067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 203 (Y203C)

Ref Sequence

ENSEMBL: ENSMUSP00000136481 (fasta)

Gene Model

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

AlphaFold

Q9DCW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000034932
AA Change: Y203C

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

SMART Domains

Protein: ENSMUSP00000034932
Gene: ENSMUSG00000032372
AA Change: Y203C

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 damaging
Transcript: ENSMUST00000113044
AA Change: Y68C

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

SMART Domains

Protein: ENSMUSP00000108667
Gene: ENSMUSG00000032372
AA Change: Y68C

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: Y203C

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

SMART Domains

Protein: ENSMUSP00000136481
Gene: ENSMUSG00000032372
AA Change: Y203C

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

0.7686

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

97% (77/79)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	G	A	17: 36,271,069 (GRCm39)	T463M	probably damaging	Het
Arhgap35	C	T	7: 16,297,511 (GRCm39)	G518D	probably damaging	Het
Arhgdia	A	G	11: 120,470,517 (GRCm39)	Y110H	probably damaging	Het
Atp8b3	T	C	10: 80,372,604 (GRCm39)		probably null	Het
Bpifb6	T	A	2: 153,750,436 (GRCm39)	I309N	possibly damaging	Het
Cbr4	T	C	8: 61,943,061 (GRCm39)	V77A	possibly damaging	Het
Cers2	A	G	3: 95,227,534 (GRCm39)	Y54C	possibly damaging	Het
Cnbp	A	T	6: 87,821,120 (GRCm39)	H145Q	probably damaging	Het
Csmd1	A	T	8: 16,073,905 (GRCm39)	I2030N	possibly damaging	Het
Csmd1	A	G	8: 16,760,522 (GRCm39)		probably null	Het
Dhodh	T	C	8: 110,328,170 (GRCm39)		probably null	Het
Dnah11	T	A	12: 117,982,495 (GRCm39)	Y2558F	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
En1	A	T	1: 120,534,872 (GRCm39)	Y387F	unknown	Het
Ephb2	C	A	4: 136,423,363 (GRCm39)	C305F	probably damaging	Het
Fryl	A	G	5: 73,238,315 (GRCm39)	V1477A	probably benign	Het
Gimap3	A	T	6: 48,742,327 (GRCm39)	L201Q	probably benign	Het
Gm10801	T	G	2: 98,494,246 (GRCm39)		probably null	Het
Grhl1	A	G	12: 24,636,132 (GRCm39)	I283V	possibly damaging	Het
Grid2ip	T	A	5: 143,374,658 (GRCm39)	L926H	probably damaging	Het
Gtf2h2	G	T	13: 100,605,523 (GRCm39)	C82*	probably null	Het
Gtf2ird1	T	C	5: 134,433,588 (GRCm39)	T280A	probably benign	Het
Gzmd	T	C	14: 56,367,698 (GRCm39)	I192V	probably null	Het
Hectd1	A	G	12: 51,834,695 (GRCm39)	V855A	possibly damaging	Het
Hey1	A	G	3: 8,730,963 (GRCm39)		probably benign	Het
Hpx	A	G	7: 105,249,243 (GRCm39)	S19P	probably benign	Het
Incenp	G	A	19: 9,853,964 (GRCm39)	R696W	unknown	Het
Itgam	T	C	7: 127,700,709 (GRCm39)	V493A	probably damaging	Het
Ldlrad3	A	G	2: 101,900,343 (GRCm39)	I53T	probably damaging	Het
Map3k7	G	T	4: 31,985,700 (GRCm39)	E208*	probably null	Het
Myh9	A	T	15: 77,671,717 (GRCm39)	I458N	probably damaging	Het
Myo1c	C	T	11: 75,560,856 (GRCm39)	R770*	probably null	Het
Nectin3	T	A	16: 46,284,306 (GRCm39)	Y126F	possibly damaging	Het
Nek5	A	T	8: 22,573,443 (GRCm39)	N504K	probably damaging	Het
Nlrp4c	T	A	7: 6,068,424 (GRCm39)	H108Q	probably benign	Het
Or10d5	A	T	9: 39,861,165 (GRCm39)	L301M	probably damaging	Het
Or2ak4	T	C	11: 58,649,013 (GRCm39)	V174A	possibly damaging	Het
Or2at1	A	T	7: 99,416,989 (GRCm39)	I207F	probably damaging	Het
Or5h17	A	T	16: 58,820,458 (GRCm39)	T137S	probably benign	Het
Or9a2	G	T	6: 41,748,442 (GRCm39)	Q264K	probably benign	Het
Or9i14	T	A	19: 13,792,814 (GRCm39)	I47F	possibly damaging	Het
Parp6	T	C	9: 59,549,052 (GRCm39)	I507T	probably damaging	Het
Pcdhb12	A	G	18: 37,570,548 (GRCm39)	T565A	probably benign	Het
Pclo	A	G	5: 14,828,572 (GRCm39)	N4676D	unknown	Het
Pdlim1	T	A	19: 40,211,180 (GRCm39)	H278L	probably benign	Het
Pfkfb3	G	A	2: 11,498,719 (GRCm39)	T46M	probably damaging	Het
Plxna1	T	C	6: 89,311,733 (GRCm39)	D924G	possibly damaging	Het
Postn	T	A	3: 54,292,031 (GRCm39)		probably benign	Het
Ptpn23	A	G	9: 110,217,924 (GRCm39)	S674P	possibly damaging	Het
Ranbp6	C	T	19: 29,788,984 (GRCm39)	R456Q	probably benign	Het
Rbm43	A	T	2: 51,819,728 (GRCm39)	V46E	probably damaging	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Rtn4r	A	G	16: 17,969,046 (GRCm39)	Y158C	probably damaging	Het
Ryr2	A	G	13: 11,731,884 (GRCm39)	I2352T	probably damaging	Het
Sbk2	G	T	7: 4,960,577 (GRCm39)	R198S	possibly damaging	Het
Scube3	G	A	17: 28,386,166 (GRCm39)		probably null	Het
Slc45a1	G	A	4: 150,722,697 (GRCm39)	P396S	probably benign	Het
Slc4a10	A	G	2: 62,087,861 (GRCm39)	D418G	probably null	Het
Smarcad1	A	G	6: 65,052,099 (GRCm39)	T411A	probably benign	Het
Smtn	G	A	11: 3,474,663 (GRCm39)	S716F	probably damaging	Het
Stag1	G	T	9: 100,620,092 (GRCm39)	R65L	probably damaging	Het
Stat1	A	T	1: 52,165,680 (GRCm39)	D92V	probably damaging	Het
Ttn	A	G	2: 76,582,428 (GRCm39)	Y22822H	probably damaging	Het
Vmn1r172	A	G	7: 23,359,606 (GRCm39)	T164A	probably benign	Het
Vmn2r118	A	T	17: 55,917,860 (GRCm39)	D217E	probably damaging	Het
Vmn2r26	A	G	6: 124,030,924 (GRCm39)	E553G	probably damaging	Het
Vmn2r96	T	C	17: 18,803,088 (GRCm39)	F333L	probably benign	Het
Ypel5	G	A	17: 73,155,726 (GRCm39)	R98H	probably benign	Het
Zfp719	C	T	7: 43,239,656 (GRCm39)	H415Y	probably damaging	Het
Zyg11a	T	C	4: 108,062,268 (GRCm39)	S176G	probably benign	Het

Other mutations in Plscr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Plscr2	APN	9	92,172,685 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AGACCTCTGAAATGCAGTAGCTG -3'
(R):5'- GTGGGTACACATCCAGTCACAC -3'

Sequencing Primer
(F):5'- GCTGCTGCTTCCCTTGCTG -3'
(R):5'- CCAGTCACACTAGTTAGGTAATGC -3'

Posted On

2015-10-21