Mutagenetix > Incidental Mutation

Incidental Mutation 'R6303:Plscr5'

509158

Institutional Source

Beutler Lab

Gene Symbol

Plscr5

Ensembl Gene

ENSMUSG00000095654

Gene Name

phospholipid scramblase family, member 5

Synonyms

MMRRC Submission

044410-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R6303 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92074989-92091825 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92087609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 193 (I193F)

Ref Sequence

ENSEMBL: ENSMUSP00000136181 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179751]

AlphaFold

J3QM92

Predicted Effect

probably benign
Transcript: ENSMUST00000179751
AA Change: I193F

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000136181
Gene: ENSMUSG00000095654
AA Change: I193F

Domain	Start	End	E-Value	Type
Pfam:Scramblase	47	269	1.5e-79	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol9b	T	A	15: 77,619,504 (GRCm39)	V100E	probably damaging	Het
Bin3	A	G	14: 70,374,625 (GRCm39)	D218G	possibly damaging	Het
Cobll1	A	T	2: 64,928,377 (GRCm39)	M982K	possibly damaging	Het
Crybg2	T	C	4: 133,814,898 (GRCm39)	V1593A	possibly damaging	Het
Ctsh	A	G	9: 89,944,796 (GRCm39)	S76G	possibly damaging	Het
Dnajc10	T	G	2: 80,181,008 (GRCm39)	D767E	probably benign	Het
Elapor1	A	C	3: 108,368,572 (GRCm39)	C806W	probably damaging	Het
Etaa1	A	C	11: 17,897,505 (GRCm39)	M204R	probably damaging	Het
Fbxw16	A	T	9: 109,278,169 (GRCm39)	I3N	probably benign	Het
Fndc1	T	C	17: 7,977,317 (GRCm39)	E1394G	probably damaging	Het
Gm19410	T	C	8: 36,274,714 (GRCm39)	C1512R	possibly damaging	Het
Gramd4	A	G	15: 86,019,120 (GRCm39)	E596G	possibly damaging	Het
Hephl1	C	A	9: 15,001,448 (GRCm39)	V226F	possibly damaging	Het
Ilf3	G	A	9: 21,314,432 (GRCm39)		probably benign	Het
Kcnh3	T	C	15: 99,124,919 (GRCm39)	V123A	probably benign	Het
Kdm2b	A	G	5: 123,019,807 (GRCm39)	S260P	probably benign	Het
Lingo4	G	A	3: 94,310,513 (GRCm39)	G484R	probably damaging	Het
Lrrc10b	T	C	19: 10,434,342 (GRCm39)	Q113R	probably benign	Het
Lrrc8c	A	T	5: 105,756,475 (GRCm39)	N750I	probably benign	Het
Mtcl2	T	C	2: 156,882,684 (GRCm39)	N456S	possibly damaging	Het
Nlrp2	A	G	7: 5,340,760 (GRCm39)	L18P	probably damaging	Het
Nrp2	T	C	1: 62,784,565 (GRCm39)	L238P	probably damaging	Het
Nup155	T	C	15: 8,147,526 (GRCm39)	S262P	probably damaging	Het
Or51k1	G	A	7: 103,661,238 (GRCm39)	L224F	probably damaging	Het
Pappa	G	A	4: 65,122,891 (GRCm39)	G742D	probably damaging	Het
Pclo	A	T	5: 14,727,907 (GRCm39)		probably benign	Het
Phyhipl	A	G	10: 70,395,387 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,603,383 (GRCm39)	T1185A	possibly damaging	Het
Polr1b	G	A	2: 128,957,682 (GRCm39)	R579H	probably damaging	Het
Polr2a	A	T	11: 69,637,739 (GRCm39)	W202R	probably damaging	Het
Ppp4r1	A	G	17: 66,131,724 (GRCm39)	K489E	probably benign	Het
Qser1	G	A	2: 104,593,175 (GRCm39)	T1704I	probably damaging	Het
Sik1	A	G	17: 32,065,270 (GRCm39)	V776A	probably damaging	Het
Spata31h1	T	A	10: 82,126,202 (GRCm39)	K2269N	possibly damaging	Het
Spice1	A	G	16: 44,191,060 (GRCm39)	M305V	probably benign	Het
Taf4b	T	C	18: 14,940,412 (GRCm39)	I297T	probably damaging	Het
Trim14	C	A	4: 46,522,118 (GRCm39)	M186I	probably benign	Het
Usp49	C	A	17: 47,991,747 (GRCm39)	Q670K	probably damaging	Het
Usp54	T	C	14: 20,611,036 (GRCm39)	D1260G	possibly damaging	Het
Vmn1r224	T	A	17: 20,640,028 (GRCm39)	S202T	possibly damaging	Het
Vmn1r3	T	A	4: 3,184,975 (GRCm39)	T111S	probably damaging	Het
Zfp985	A	G	4: 147,668,232 (GRCm39)	I367V	probably benign	Het

Other mutations in Plscr5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
rambler	UTSW	9	92,080,651 (GRCm39)	missense	probably benign
R1710:Plscr5	UTSW	9	92,087,581 (GRCm39)	missense	probably damaging	1.00
R2157:Plscr5	UTSW	9	92,080,550 (GRCm39)	missense	probably benign
R4190:Plscr5	UTSW	9	92,080,651 (GRCm39)	missense	probably benign
R5093:Plscr5	UTSW	9	92,080,574 (GRCm39)	missense	probably benign	0.00
R5308:Plscr5	UTSW	9	92,080,565 (GRCm39)	missense	possibly damaging	0.63
R5639:Plscr5	UTSW	9	92,087,564 (GRCm39)	nonsense	probably null
R5693:Plscr5	UTSW	9	92,087,564 (GRCm39)	nonsense	probably null
R5694:Plscr5	UTSW	9	92,087,564 (GRCm39)	nonsense	probably null
R5700:Plscr5	UTSW	9	92,087,564 (GRCm39)	nonsense	probably null
R5701:Plscr5	UTSW	9	92,087,564 (GRCm39)	nonsense	probably null
R6009:Plscr5	UTSW	9	92,086,488 (GRCm39)	nonsense	probably null
R6091:Plscr5	UTSW	9	92,086,437 (GRCm39)	missense	probably benign	0.15
R8183:Plscr5	UTSW	9	92,080,655 (GRCm39)	missense	probably benign
R9235:Plscr5	UTSW	9	92,086,417 (GRCm39)	missense	possibly damaging	0.55
R9745:Plscr5	UTSW	9	92,087,502 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTCAGAAGAAAATACTGCTTTGCATCC -3'
(R):5'- TTAGAATCTCTGGAGTGATGGC -3'

Sequencing Primer
(F):5'- AATACTGCTTTGCATCCTAGAAAC -3'
(R):5'- CTGGAGTGATGGCTATTATTATAAGC -3'

Posted On

2018-04-02