Mutagenetix > Incidental Mutation

Incidental Mutation 'R6102:Plscr2'

485315

Institutional Source

Beutler Lab

Gene Symbol

Plscr2

Ensembl Gene

ENSMUSG00000032372

Gene Name

phospholipid scramblase 2

Synonyms

PL scramblase

MMRRC Submission

044252-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6102 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92275602-92297752 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 92287668 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 57 (T57I)

Ref Sequence

ENSEMBL: ENSMUSP00000136481 (fasta)

Gene Model

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

AlphaFold

Q9DCW2

Predicted Effect

probably benign
Transcript: ENSMUST00000034932
AA Change: T57I

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034932
Gene: ENSMUSG00000032372
AA Change: T57I

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: ENSMUST00000113044

SMART Domains

Protein: ENSMUSP00000108667
Gene: ENSMUSG00000032372

Domain	Start	End	E-Value	Type
Pfam:Scramblase	1	170	5.8e-71	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156772

Predicted Effect

probably benign
Transcript: ENSMUST00000180154
AA Change: T57I

PolyPhen 2 Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136481
Gene: ENSMUSG00000032372
AA Change: T57I

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
Pfam:Scramblase	84	305	5.1e-94	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

97% (65/67)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12e	A	G	11: 70,320,023	I290T	possibly damaging	Het
Apeh	T	A	9: 108,086,439	D559V	probably damaging	Het
Aspm	T	A	1: 139,477,459	Y1361*	probably null	Het
Atad5	G	T	11: 80,111,572		probably null	Het
Ccr4	C	T	9: 114,496,493		probably null	Het
Clasrp	G	A	7: 19,586,468		probably benign	Het
Cldn23	A	G	8: 35,825,551	M261T	probably benign	Het
Cmya5	T	C	13: 93,094,231	M1450V	probably benign	Het
Cyp4v3	T	A	8: 45,320,160	E202V	probably damaging	Het
Dnah7a	A	T	1: 53,559,140	V1412E	probably benign	Het
Dnah9	A	G	11: 65,990,516	S2578P	probably damaging	Het
Dsc2	T	A	18: 20,047,108	Y196F	probably benign	Het
Exoc1	T	C	5: 76,537,779	S113P	probably damaging	Het
Fbxo6	A	T	4: 148,149,522	I39N	probably damaging	Het
Frs3	C	T	17: 47,702,671	H173Y	probably damaging	Het
Ginm1	G	T	10: 7,768,496	T323K	probably benign	Het
Golgb1	T	C	16: 36,912,865	S825P	probably damaging	Het
Hs3st3b1	A	T	11: 63,921,855	C11*	probably null	Het
Ighv3-3	G	C	12: 114,196,460	A110G	possibly damaging	Het
Igkv6-20	G	A	6: 70,335,869	H107Y	probably benign	Het
Kcnj16	A	G	11: 111,025,577	E355G	probably benign	Het
Lig4	C	T	8: 9,972,872	G303S	probably damaging	Het
Map1b	A	C	13: 99,425,873	V2443G	unknown	Het
Map3k6	T	C	4: 133,247,131		probably null	Het
Mmp13	A	G	9: 7,276,688	Q261R	probably benign	Het
Mphosph9	T	A	5: 124,297,709	I554F	possibly damaging	Het
Mrgpra3	A	T	7: 47,590,149	F10I	possibly damaging	Het
Ms4a18	G	A	19: 11,013,523	T69I	probably benign	Het
Mtmr3	T	C	11: 4,487,673	N927S	probably damaging	Het
Necab1	T	A	4: 14,989,211	Q188L	probably benign	Het
Nfatc2	A	G	2: 168,519,507		probably benign	Het
Olfr152	T	C	2: 87,782,848	F103L	probably damaging	Het
Olfr495	T	C	7: 108,395,284	S55P	probably damaging	Het
Olfr854	T	C	9: 19,567,022	M121V	possibly damaging	Het
Paip2b	A	C	6: 83,808,846	V134G	possibly damaging	Het
Pax3	T	C	1: 78,132,347	T225A	probably damaging	Het
Pbx1	C	A	1: 168,183,565	A298S	probably benign	Het
Pcdhac2	A	T	18: 37,146,282	K772*	probably null	Het
Pcsk4	A	T	10: 80,325,817	Y163*	probably null	Het
Plcd3	A	G	11: 103,080,644	V58A	probably damaging	Het
Plek2	T	A	12: 78,900,093	T57S	possibly damaging	Het
Ppp2r5b	A	G	19: 6,234,738	S32P	probably benign	Het
Ppp3r2	C	T	4: 49,682,022		probably benign	Het
Psme4	T	A	11: 30,865,567	L1693H	probably damaging	Het
Rrbp1	T	A	2: 143,988,393	Q618L	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Serpina3b	A	T	12: 104,134,169	T337S	probably benign	Het
Slc18a2	T	C	19: 59,293,878	Y506H	probably benign	Het
Slc9a9	A	G	9: 94,936,429	Y292C	probably benign	Het
Spta1	T	C	1: 174,224,520	V1840A	probably benign	Het
Ssb	T	C	2: 69,871,208	*416Q	probably null	Het
Strada	A	G	11: 106,168,436	V209A	probably benign	Het
Tbc1d31	A	T	15: 57,936,093	D225V	probably damaging	Het
Tgm4	T	C	9: 123,056,535	F381L	probably benign	Het
Tmem120b	T	A	5: 123,115,144	Y203N	probably damaging	Het
Tmem176b	A	G	6: 48,835,934	V109A	probably benign	Het
Tnfrsf11a	C	A	1: 105,819,946	L201M	possibly damaging	Het
Ttn	C	A	2: 76,974,350		probably null	Het
Tubb2a	T	C	13: 34,075,343	I155V	probably benign	Het
Vmn1r5	A	G	6: 56,986,114	D258G	probably damaging	Het
Vmn2r121	T	C	X: 124,133,575	T120A	probably benign	Het
Vmn2r19	A	T	6: 123,329,948	I472F	probably damaging	Het
Vwa3a	A	G	7: 120,776,138		probably null	Het
Zfp273	A	G	13: 67,822,347	Y5C	probably damaging	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het
Zfp825	A	G	13: 74,480,653	L248P	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
R0401:Plscr2	UTSW	9	92282135	missense	probably benign
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
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'- TGTCTGGGATAGATAATTCCACATG -3'
(R):5'- CCCAGAGGGCATATAGGAATATGTC -3'

Sequencing Primer
(F):5'- GGGATAGATAATTCCACATGAACTGC -3'
(R):5'- GGCATATAGGAATATGTCATGCTTTG -3'

Posted On

2017-08-16