Mutagenetix > Incidental Mutation

Incidental Mutation 'R5043:Pramel19'

393291

Institutional Source

Beutler Lab

Gene Symbol

Pramel19

Ensembl Gene

ENSMUSG00000070890

Gene Name

PRAME like 19

Synonyms

Gm12794

MMRRC Submission

042633-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R5043 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101797604-101800380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101797721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 40 (F40L)

Ref Sequence

ENSEMBL: ENSMUSP00000051550 (fasta)

Gene Model

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

AlphaFold

L7MTS5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052027
AA Change: F40L

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000051550
Gene: ENSMUSG00000070890
AA Change: F40L

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

Meta Mutation Damage Score

0.2536

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,980,910 (GRCm39)	Y106*	probably null	Het
Acsbg3	A	G	17: 57,192,198 (GRCm39)	Y587C	probably damaging	Het
Akap12	G	C	10: 4,305,047 (GRCm39)	G619A	probably damaging	Het
Arhgap29	A	G	3: 121,767,653 (GRCm39)	K32E	probably benign	Het
Capg	T	A	6: 72,535,237 (GRCm39)	Y253*	probably null	Het
Cntnap3	A	T	13: 64,942,162 (GRCm39)	F189L	probably damaging	Het
Cp	T	C	3: 20,028,081 (GRCm39)	S496P	probably benign	Het
Cxcl11	T	C	5: 92,511,011 (GRCm39)		probably null	Het
Dennd3	T	C	15: 73,399,785 (GRCm39)	L217P	probably benign	Het
Dip2c	G	T	13: 9,601,863 (GRCm39)	R274L	possibly damaging	Het
Dnah12	C	T	14: 26,606,147 (GRCm39)	S3776L	probably damaging	Het
Emcn	A	G	3: 137,097,362 (GRCm39)	T94A	possibly damaging	Het
Fnip2	A	T	3: 79,400,174 (GRCm39)	Y397*	probably null	Het
Gabrp	T	C	11: 33,518,072 (GRCm39)	N79D	probably benign	Het
Glmp	T	G	3: 88,233,983 (GRCm39)		probably benign	Het
Gm5921	C	T	9: 115,267,087 (GRCm39)		noncoding transcript	Het
Gm6483	A	G	8: 19,743,686 (GRCm39)	T104A	probably benign	Het
Ifi206	A	T	1: 173,314,284 (GRCm39)	M52K	probably damaging	Het
Iqcc	T	C	4: 129,512,070 (GRCm39)		probably benign	Het
Klra2	T	A	6: 131,197,135 (GRCm39)	H288L	probably benign	Het
Myo5b	T	C	18: 74,771,224 (GRCm39)		probably null	Het
Nisch	A	G	14: 30,898,422 (GRCm39)		probably benign	Het
Nlrp4c	A	G	7: 6,069,824 (GRCm39)	N575S	probably benign	Het
Or1n2	A	C	2: 36,796,977 (GRCm39)	R6S	probably benign	Het
Or8b49	A	G	9: 38,506,137 (GRCm39)	I207V	probably damaging	Het
Phlda1	T	A	10: 111,343,152 (GRCm39)	L296Q	unknown	Het
Rab36	G	A	10: 74,886,837 (GRCm39)	E182K	probably benign	Het
Rasa3	G	A	8: 13,620,368 (GRCm39)	T767M	possibly damaging	Het
Serpinb11	G	A	1: 107,297,195 (GRCm39)	V24M	probably damaging	Het
Slc7a14	T	G	3: 31,291,615 (GRCm39)	N221T	probably damaging	Het
Smg6	T	C	11: 74,820,721 (GRCm39)	S331P	possibly damaging	Het
Snx1	C	T	9: 66,004,718 (GRCm39)	A183T	probably benign	Het
Srpk2	T	C	5: 23,729,515 (GRCm39)	T375A	probably benign	Het
Tecpr1	T	C	5: 144,134,672 (GRCm39)		probably null	Het
Topaz1	A	T	9: 122,577,469 (GRCm39)	E126D	probably benign	Het
Ugt2b1	C	G	5: 87,065,503 (GRCm39)	C512S	possibly damaging	Het
Ugt2b37	C	T	5: 87,399,719 (GRCm39)	W263*	probably null	Het
Utp20	A	T	10: 88,634,608 (GRCm39)	M750K	possibly damaging	Het
Yeats2	A	T	16: 20,027,215 (GRCm39)	Q822L	probably damaging	Het
Zfp609	T	C	9: 65,608,109 (GRCm39)	Y1257C	probably damaging	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
R5297:Pramel19	UTSW	4	101,798,348 (GRCm39)	missense	possibly damaging	0.46
R5780:Pramel19	UTSW	4	101,798,724 (GRCm39)	missense	probably damaging	1.00
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'- CCTGCAATGGTGAGACACAG -3'
(R):5'- CCTTGGACCTTGCTTACCTGAG -3'

Sequencing Primer
(F):5'- TGGTGAGACACAGGAATTTCC -3'
(R):5'- CTGAGACTAACATTCTGTGTCAGCAG -3'

Posted On

2016-06-15