Mutagenetix > Incidental Mutation

Incidental Mutation 'R0401:Plscr2'

38226

Institutional Source

Beutler Lab

Gene Symbol

Plscr2

Ensembl Gene

ENSMUSG00000032372

Gene Name

phospholipid scramblase 2

Synonyms

PL scramblase

MMRRC Submission

038606-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0401 (G1)

Quality Score

141

Status

Validated

Chromosome

Chromosomal Location

92275602-92297752 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92282135 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 6 (S6P)

Ref Sequence

ENSEMBL: ENSMUSP00000136481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034932] [ENSMUST00000126911] [ENSMUST00000180154]

AlphaFold

Q9DCW2

Predicted Effect

probably benign
Transcript: ENSMUST00000034932
AA Change: S6P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034932
Gene: ENSMUSG00000032372
AA Change: S6P

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: ENSMUST00000126911
AA Change: S6P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000180154
AA Change: S6P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136481
Gene: ENSMUSG00000032372
AA Change: S6P

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.6%

Validation Efficiency

98% (90/92)

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 138,070,306	H1752L	possibly damaging	Het
8030462N17Rik	C	A	18: 77,673,962	S218I	probably damaging	Het
A530099J19Rik	A	T	13: 19,729,494		noncoding transcript	Het
Abcc5	T	C	16: 20,376,558	K730E	probably benign	Het
Ahnak	A	G	19: 9,015,116	D4588G	probably benign	Het
AI467606	G	A	7: 127,092,436	R61H	probably damaging	Het
Apoa4	T	A	9: 46,243,058	V319E	probably damaging	Het
Atad5	T	A	11: 80,120,699	D1297E	probably benign	Het
BC005624	G	A	2: 30,980,009	T62I	probably benign	Het
Bcl6	T	C	16: 23,972,594	K337E	probably damaging	Het
Cad	T	A	5: 31,073,986		probably benign	Het
Ccdc73	T	C	2: 104,991,289	S528P	probably benign	Het
Ccng2	T	G	5: 93,273,413	C261G	possibly damaging	Het
Cdh11	A	T	8: 102,674,006	I110N	probably damaging	Het
Cgnl1	A	G	9: 71,705,239	V767A	probably damaging	Het
Cit	A	G	5: 115,985,479	T1460A	probably benign	Het
Clec4b2	C	T	6: 123,181,300	Q42*	probably null	Het
Clip1	A	G	5: 123,653,789	V106A	probably damaging	Het
Crb1	T	C	1: 139,198,791		probably benign	Het
Cts6	T	C	13: 61,198,339		probably benign	Het
Cul9	T	C	17: 46,541,704	E244G	probably damaging	Het
Ddx55	A	T	5: 124,567,951	I480F	probably damaging	Het
Dixdc1	A	G	9: 50,693,674	S17P	possibly damaging	Het
Drosha	T	A	15: 12,926,031	Y1235*	probably null	Het
Dsg2	G	T	18: 20,592,508		probably benign	Het
E2f5	T	C	3: 14,579,025		probably null	Het
Epc2	A	G	2: 49,528,974	T265A	probably damaging	Het
Etaa1	T	G	11: 17,947,514	D201A	probably damaging	Het
Fancd2	T	C	6: 113,548,343	I260T	possibly damaging	Het
Fhdc1	G	A	3: 84,444,624	A1098V	probably benign	Het
Gm17689	G	T	9: 36,582,628	A3E	unknown	Het
Gm7030	C	T	17: 36,128,705	V128M	probably damaging	Het
Gpd2	G	A	2: 57,340,093	V286I	possibly damaging	Het
Herc2	A	C	7: 56,157,732	E2523A	probably damaging	Het
Jmjd1c	G	A	10: 67,220,382	R527H	probably damaging	Het
Kif12	G	A	4: 63,169,525		probably benign	Het
Lrp2	A	T	2: 69,479,148	N2802K	probably damaging	Het
Mab21l2	C	G	3: 86,546,989	G235R	probably benign	Het
Mapk8	T	C	14: 33,382,208	E417G	probably benign	Het
Mapk8ip3	G	A	17: 24,909,171		probably benign	Het
Mettl1	A	G	10: 127,045,077	T203A	probably benign	Het
Mettl9	T	C	7: 121,076,313	V312A	probably damaging	Het
Mex3d	A	G	10: 80,386,894	V176A	probably benign	Het
Mmp3	T	C	9: 7,449,790	S225P	probably damaging	Het
Mrvi1	G	A	7: 110,876,897	P757S	probably benign	Het
Neb	G	A	2: 52,188,677		probably benign	Het
Ninj2	C	T	6: 120,198,051	A51V	possibly damaging	Het
Nle1	A	G	11: 82,905,379		probably benign	Het
Nol9	T	C	4: 152,052,605	Y532H	probably benign	Het
Nr2c1	T	A	10: 94,171,158	V286E	probably benign	Het
Olfr1183	T	G	2: 88,461,925	L195R	probably damaging	Het
Olfr1272	A	T	2: 90,282,404	M57K	probably damaging	Het
Olfr308	T	C	7: 86,321,292	Y220C	probably benign	Het
Olfr481	T	A	7: 108,080,872	I26N	possibly damaging	Het
Olfr670	T	A	7: 104,959,943	H263L	probably damaging	Het
Olfr816	A	G	10: 129,911,916	Y121H	probably benign	Het
Olfr827	A	G	10: 130,210,620	L170P	probably damaging	Het
Ovch2	A	T	7: 107,801,136	V15D	probably damaging	Het
Pclo	T	G	5: 14,681,734	S3417A	unknown	Het
Pet2	C	A	X: 89,405,209	R438L	probably benign	Het
Pex1	T	A	5: 3,633,759	M1085K	probably damaging	Het
Pogz	C	T	3: 94,877,025	P722S	possibly damaging	Het
Pom121l2	A	T	13: 21,982,225	D222V	probably benign	Het
Prpf40a	T	C	2: 53,159,313	Y179C	probably damaging	Het
R3hdm2	A	G	10: 127,458,173	I179V	possibly damaging	Het
Ranbp9	A	C	13: 43,422,658	V355G	probably damaging	Het
Rims2	T	C	15: 39,509,632		probably benign	Het
Ryr2	A	T	13: 11,705,684	S2693T	probably benign	Het
Sbno1	G	A	5: 124,410,285	T111I	probably damaging	Het
Sdk1	A	C	5: 142,046,161	N997T	possibly damaging	Het
Setx	G	T	2: 29,166,289	E39*	probably null	Het
Skint7	T	A	4: 111,980,362	N112K	probably damaging	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Slc4a10	A	T	2: 62,190,848	D80V	probably benign	Het
Susd2	C	A	10: 75,638,603		probably benign	Het
Tcam1	G	A	11: 106,284,078	E120K	probably benign	Het
Tcf3	G	T	10: 80,421,158	S77R	probably damaging	Het
Tdpoz3	T	C	3: 93,826,365	Y116H	probably benign	Het
Tex26	C	A	5: 149,460,858	D164E	probably benign	Het
Thoc5	G	A	11: 4,902,213		probably benign	Het
Tiparp	A	G	3: 65,531,436	R58G	probably benign	Het
Trim66	A	T	7: 109,475,264	C597S	probably damaging	Het
Ugt2a3	T	A	5: 87,336,490	Q225L	probably benign	Het
Vmn1r25	T	A	6: 57,978,711	I198L	probably benign	Het
Vmn2r106	A	T	17: 20,279,019	V210D	possibly damaging	Het
Vmn2r124	T	C	17: 18,064,145	F483L	probably damaging	Het
Vmn2r78	A	G	7: 86,921,311	K346E	probably benign	Het
Zfhx4	T	A	3: 5,401,161	S2126R	possibly damaging	Het
Zfp608	C	T	18: 54,898,994	G625R	probably benign	Het
Zkscan5	A	G	5: 145,212,575	D234G	probably damaging	Het
Zscan10	T	A	17: 23,605,915	V115E	probably damaging	Het

Other mutations in Plscr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Plscr2	APN	9	92290632	splice site	probably benign
IGL02496:Plscr2	APN	9	92289663	missense	probably benign	0.12
R0620:Plscr2	UTSW	9	92287654	missense	probably benign	0.10
R0879:Plscr2	UTSW	9	92287793	missense	probably damaging	1.00
R1829:Plscr2	UTSW	9	92290755	missense	probably damaging	1.00
R2022:Plscr2	UTSW	9	92295594	missense	probably damaging	1.00
R2237:Plscr2	UTSW	9	92290824	missense	probably damaging	1.00
R2971:Plscr2	UTSW	9	92290671	nonsense	probably null
R3552:Plscr2	UTSW	9	92290795	missense	probably damaging	1.00
R3762:Plscr2	UTSW	9	92291080	missense	probably damaging	1.00
R4214:Plscr2	UTSW	9	92287737	missense	probably benign	0.09
R4528:Plscr2	UTSW	9	92289693	missense	possibly damaging	0.87
R4679:Plscr2	UTSW	9	92287770	missense	probably benign	0.13
R4708:Plscr2	UTSW	9	92291014	missense	probably damaging	1.00
R4709:Plscr2	UTSW	9	92291014	missense	probably damaging	1.00
R4831:Plscr2	UTSW	9	92291077	missense	possibly damaging	0.89
R5244:Plscr2	UTSW	9	92291049	missense	probably benign	0.33
R6102:Plscr2	UTSW	9	92287668	missense	probably benign	0.32
R6298:Plscr2	UTSW	9	92290719	missense	probably benign	0.05
R6893:Plscr2	UTSW	9	92290704	missense	probably benign	0.05
R7320:Plscr2	UTSW	9	92291140	critical splice donor site	probably null
R7876:Plscr2	UTSW	9	92287728	missense	probably benign
R8220:Plscr2	UTSW	9	92295660	missense	probably damaging	1.00
R8340:Plscr2	UTSW	9	92291077	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGCTCTTTTACAGGCACACCAC -3'
(R):5'- CAATTTTCAGCACAGGGGAACAGC -3'

Sequencing Primer
(F):5'- TTTTACAGGCACACCACCTTAATG -3'
(R):5'- CCAGTGTTTCTTTGACGCAAG -3'

Posted On

2013-05-23