Mutagenetix > Incidental Mutation

Incidental Mutation 'R8183:Plscr5'

634735

Institutional Source

Beutler Lab

Gene Symbol

Plscr5

Ensembl Gene

ENSMUSG00000095654

Gene Name

phospholipid scramblase family, member 5

Synonyms

MMRRC Submission

067781-MU

Accession Numbers

Essential gene?

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

Stock #

R8183 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92074989-92091825 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92080655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 47 (Q47R)

Ref Sequence

ENSEMBL: ENSMUSP00000136181 (fasta)

Gene Model

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

AlphaFold

J3QM92

Predicted Effect

probably benign
Transcript: ENSMUST00000179751
AA Change: Q47R

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

SMART Domains

Protein: ENSMUSP00000136181
Gene: ENSMUSG00000095654
AA Change: Q47R

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: 99.4%
20x: 97.9%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	T	A	15: 72,991,337 (GRCm39)	K534*	probably null	Het
Art1	A	T	7: 101,756,633 (GRCm39)	I275F	probably damaging	Het
Atp1a2	T	C	1: 172,116,918 (GRCm39)	N233S	probably damaging	Het
B3gnt2	T	A	11: 22,786,373 (GRCm39)	I272L	probably benign	Het
Bpifa1	A	G	2: 153,988,039 (GRCm39)	Q194R	possibly damaging	Het
Cand2	A	G	6: 115,768,879 (GRCm39)	E563G	probably benign	Het
Clns1a	A	G	7: 97,354,888 (GRCm39)	Y78C	probably damaging	Het
Col20a1	T	C	2: 180,640,207 (GRCm39)	V483A		Het
Col3a1	C	G	1: 45,373,970 (GRCm39)	P621R	unknown	Het
Cst9	G	A	2: 148,678,634 (GRCm39)	R88H	possibly damaging	Het
Cxxc1	T	C	18: 74,353,428 (GRCm39)	Y513H	probably damaging	Het
Dcdc2a	T	C	13: 25,291,633 (GRCm39)	F206S	possibly damaging	Het
Dgkz	C	A	2: 91,769,937 (GRCm39)	G576C	probably damaging	Het
Dpy19l3	A	G	7: 35,394,814 (GRCm39)	F575L	probably damaging	Het
Ftcd	T	A	10: 76,411,541 (GRCm39)	M1K	probably null	Het
Gtf2ird1	T	C	5: 134,386,689 (GRCm39)	D1044G	unknown	Het
Gzmc	A	T	14: 56,470,164 (GRCm39)	M111K	probably damaging	Het
Hpse	T	A	5: 100,832,984 (GRCm39)	Y437F	probably damaging	Het
Ifi203	A	G	1: 173,756,266 (GRCm39)	S506P	unknown	Het
Igsf10	A	T	3: 59,238,036 (GRCm39)	I715K	probably benign	Het
Ints9	T	C	14: 65,273,902 (GRCm39)	V569A	probably damaging	Het
Itih3	A	G	14: 30,631,433 (GRCm39)	F821S	probably benign	Het
Kcnh7	T	C	2: 62,533,321 (GRCm39)	H1186R	probably damaging	Het
Krt33a	A	G	11: 99,905,575 (GRCm39)		probably null	Het
Lonrf1	A	T	8: 36,689,819 (GRCm39)	M718K	possibly damaging	Het
Mefv	C	T	16: 3,526,446 (GRCm39)	R756K	possibly damaging	Het
Metap1d	T	A	2: 71,337,207 (GRCm39)	F40Y	possibly damaging	Het
Myh1	A	T	11: 67,092,832 (GRCm39)	D42V	possibly damaging	Het
Myo15b	T	G	11: 115,773,843 (GRCm39)		probably null	Het
Nsd1	T	C	13: 55,460,186 (GRCm39)	S2241P	probably damaging	Het
Or10q12	T	A	19: 13,746,086 (GRCm39)	Y127N	probably damaging	Het
Osbpl3	C	A	6: 50,280,089 (GRCm39)	R710L	probably benign	Het
Osbpl6	C	T	2: 76,415,404 (GRCm39)	R589C	probably damaging	Het
Pam	T	C	1: 97,762,199 (GRCm39)	T795A	probably benign	Het
Patj	A	C	4: 98,562,466 (GRCm39)	E1534D	probably damaging	Het
Ppil1	A	T	17: 29,481,053 (GRCm39)		probably null	Het
Sec23b	G	T	2: 144,401,189 (GRCm39)	V17L	probably benign	Het
Serpina3j	C	A	12: 104,284,754 (GRCm39)	Y310*	probably null	Het
Slc6a7	T	C	18: 61,140,448 (GRCm39)	S195G	probably null	Het
Snrpn	A	G	7: 59,634,830 (GRCm39)	Y168H	probably damaging	Het
Tmprss15	T	C	16: 78,884,400 (GRCm39)	D94G	probably benign	Het
Tnpo3	A	T	6: 29,558,758 (GRCm39)	M724K	probably damaging	Het
Trappc11	T	G	8: 47,982,391 (GRCm39)	E116A	possibly damaging	Het
Trpc6	T	C	9: 8,653,150 (GRCm39)	F652S	possibly damaging	Het
Trrap	T	G	5: 144,765,343 (GRCm39)	S2501A	probably benign	Het
Ubr4	T	G	4: 139,209,782 (GRCm39)	S5005A	unknown	Het
Urah	A	T	7: 140,416,707 (GRCm39)	Q60L	probably benign	Het
Vmn2r28	A	T	7: 5,491,147 (GRCm39)	C367S	probably damaging	Het
Zmym1	T	C	4: 126,952,649 (GRCm39)	D44G	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
R6303:Plscr5	UTSW	9	92,087,609 (GRCm39)	missense	probably benign	0.10
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'- GCGCCAAAATGAGAGACATC -3'
(R):5'- CGTGTTGCATGACAAAGTCAAG -3'

Sequencing Primer
(F):5'- GAGACATCAATCAAGGTCAAAACTG -3'
(R):5'- GCATGACAAAGTCAAGACTGTTTAG -3'

Posted On

2020-07-13