Mutagenetix > Incidental Mutation

Incidental Mutation 'R5780:Pramel19'

446925

Institutional Source

Beutler Lab

Gene Symbol

Pramel19

Ensembl Gene

ENSMUSG00000070890

Gene Name

PRAME like 19

Synonyms

Gm12794

MMRRC Submission

043205-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R5780 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101797604-101800380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101798724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 232 (L232F)

Ref Sequence

ENSEMBL: ENSMUSP00000051550 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052027]

AlphaFold

L7MTS5

Predicted Effect

probably damaging
Transcript: ENSMUST00000052027
AA Change: L232F

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

SMART Domains

Protein: ENSMUSP00000051550
Gene: ENSMUSG00000070890
AA Change: L232F

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	257	409	9e-11	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630001G21Rik	C	T	1: 85,646,039 (GRCm39)	A189T	probably benign	Het
Acsm4	A	G	7: 119,293,068 (GRCm39)	E66G	possibly damaging	Het
Afm	A	G	5: 90,699,290 (GRCm39)	E578G	possibly damaging	Het
Alox5	A	T	6: 116,397,310 (GRCm39)	D291E	probably benign	Het
Apoa4	A	G	9: 46,153,890 (GRCm39)	M164V	possibly damaging	Het
Atp6v1a	A	T	16: 43,935,006 (GRCm39)	M61K	probably benign	Het
Avp	A	G	2: 130,422,629 (GRCm39)	S159P	probably benign	Het
Bicra	A	T	7: 15,713,679 (GRCm39)	L841Q	possibly damaging	Het
Cdk5rap1	CTT	CT	2: 154,187,788 (GRCm39)		probably null	Het
Clasp2	T	G	9: 113,679,220 (GRCm39)	L246R	probably damaging	Het
Dhdds	G	A	4: 133,724,141 (GRCm39)	L58F	probably damaging	Het
Dmkn	A	G	7: 30,477,040 (GRCm39)	D227G	probably damaging	Het
Dnah7a	G	A	1: 53,522,478 (GRCm39)	A2920V	probably benign	Het
Epb41l1	C	T	2: 156,338,445 (GRCm39)	R163W	probably damaging	Het
Etfbkmt	T	A	6: 149,048,657 (GRCm39)	Y99N	probably damaging	Het
Fat4	T	C	3: 39,035,104 (GRCm39)	Y2919H	probably damaging	Het
Fcgbp	T	A	7: 27,784,643 (GRCm39)	D234E	probably benign	Het
Frem1	T	C	4: 82,868,652 (GRCm39)	D1443G	probably benign	Het
Fscn2	A	C	11: 120,257,494 (GRCm39)	E285A	probably benign	Het
Hmga2	T	A	10: 120,298,583 (GRCm39)	R79*	probably null	Het
Hrh3	A	T	2: 179,742,608 (GRCm39)	V308E	probably damaging	Het
Hsd11b2	G	A	8: 106,248,787 (GRCm39)	G93D	probably damaging	Het
Hydin	T	C	8: 111,312,712 (GRCm39)	F4151S	probably damaging	Het
Ica1l	C	A	1: 60,067,374 (GRCm39)	E5D	probably benign	Het
Kcnma1	C	A	14: 23,436,419 (GRCm39)	E640*	probably null	Het
Mdn1	C	T	4: 32,722,950 (GRCm39)	H2422Y	probably benign	Het
Mgarp	T	C	3: 51,299,269 (GRCm39)	T47A	probably damaging	Het
Mmp13	T	G	9: 7,278,952 (GRCm39)	F348V	possibly damaging	Het
Mov10l1	A	G	15: 88,896,181 (GRCm39)	D675G	probably benign	Het
Mtcl2	A	G	2: 156,860,410 (GRCm39)	C1610R	probably damaging	Het
Nxpe3	T	A	16: 55,686,804 (GRCm39)	Q68L	probably damaging	Het
Or4k41	A	T	2: 111,280,178 (GRCm39)	D231V	probably benign	Het
Or6c208	T	C	10: 129,223,939 (GRCm39)	S146P	probably damaging	Het
Or7e175	T	A	9: 20,048,793 (GRCm39)	M127K	probably damaging	Het
Pald1	A	T	10: 61,174,997 (GRCm39)	I751N	probably damaging	Het
Prickle2	T	C	6: 92,435,593 (GRCm39)	T3A	probably benign	Het
Ros1	A	T	10: 52,070,953 (GRCm39)	C34S	probably damaging	Het
Sema3f	A	G	9: 107,559,788 (GRCm39)	L702P	probably damaging	Het
Sptbn2	T	A	19: 4,774,695 (GRCm39)	L116Q	probably damaging	Het
Stard9	T	C	2: 120,533,877 (GRCm39)	V3378A	probably benign	Het
Sycp2l	A	G	13: 41,282,976 (GRCm39)	I158V	possibly damaging	Het
Tbc1d10b	G	A	7: 126,797,925 (GRCm39)	R739W	possibly damaging	Het
Tnik	T	C	3: 28,648,241 (GRCm39)	M431T	probably benign	Het
Ube4b	C	T	4: 149,415,821 (GRCm39)	R1091Q	probably benign	Het
Vwce	C	A	19: 10,627,983 (GRCm39)	P481Q	probably damaging	Het
Zfp1005	T	A	2: 150,108,139 (GRCm39)	M33K	probably benign	Het

Other mutations in Pramel19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Pramel19	APN	4	101,798,898 (GRCm39)	missense	probably benign	0.02
IGL01360:Pramel19	APN	4	101,797,665 (GRCm39)	missense	possibly damaging	0.94
IGL01837:Pramel19	APN	4	101,798,650 (GRCm39)	missense	probably damaging	1.00
IGL01870:Pramel19	APN	4	101,797,887 (GRCm39)	missense	probably benign	0.03
IGL02040:Pramel19	APN	4	101,798,331 (GRCm39)	missense	possibly damaging	0.94
IGL03264:Pramel19	APN	4	101,798,329 (GRCm39)	missense	probably damaging	0.99
R0033:Pramel19	UTSW	4	101,798,881 (GRCm39)	missense	probably benign
R0334:Pramel19	UTSW	4	101,798,781 (GRCm39)	missense	probably benign	0.01
R0846:Pramel19	UTSW	4	101,798,447 (GRCm39)	missense	probably benign	0.00
R1464:Pramel19	UTSW	4	101,798,503 (GRCm39)	missense	probably damaging	0.97
R1464:Pramel19	UTSW	4	101,798,503 (GRCm39)	missense	probably damaging	0.97
R1774:Pramel19	UTSW	4	101,797,655 (GRCm39)	missense	probably benign	0.27
R1888:Pramel19	UTSW	4	101,798,335 (GRCm39)	missense	probably damaging	0.99
R1888:Pramel19	UTSW	4	101,798,335 (GRCm39)	missense	probably damaging	0.99
R4510:Pramel19	UTSW	4	101,798,757 (GRCm39)	missense	probably benign	0.00
R4511:Pramel19	UTSW	4	101,798,757 (GRCm39)	missense	probably benign	0.00
R4890:Pramel19	UTSW	4	101,798,788 (GRCm39)	missense	probably damaging	0.99
R4960:Pramel19	UTSW	4	101,798,661 (GRCm39)	missense	probably benign
R5043:Pramel19	UTSW	4	101,797,721 (GRCm39)	missense	possibly damaging	0.89
R5297:Pramel19	UTSW	4	101,798,348 (GRCm39)	missense	possibly damaging	0.46
R5957:Pramel19	UTSW	4	101,798,898 (GRCm39)	missense	probably benign	0.02
R6409:Pramel19	UTSW	4	101,797,874 (GRCm39)	nonsense	probably null
R6452:Pramel19	UTSW	4	101,798,640 (GRCm39)	missense	probably benign	0.02
R7619:Pramel19	UTSW	4	101,798,497 (GRCm39)	missense	probably benign	0.01
R8460:Pramel19	UTSW	4	101,798,424 (GRCm39)	missense	probably benign	0.00
R9202:Pramel19	UTSW	4	101,797,860 (GRCm39)	missense	probably damaging	0.98
Z1177:Pramel19	UTSW	4	101,798,322 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTCTACAATGGGCCCAACAGAG -3'
(R):5'- AAACAGGTCCCCATCTTTCC -3'

Sequencing Primer
(F):5'- GAAATGAGTATGTGAGGCTATGCTG -3'
(R):5'- CCTTACCTGAACAAGTGTTTCATGTG -3'

Posted On

2016-12-15