Mutagenetix > Incidental Mutation

Incidental Mutation 'R0846:Pramel19'

77363

Institutional Source

Beutler Lab

Gene Symbol

Pramel19

Ensembl Gene

ENSMUSG00000070890

Gene Name

PRAME like 19

Synonyms

Gm12794

MMRRC Submission

039025-MU

Accession Numbers

Essential gene?

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

Stock #

R0846 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101797604-101800380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101798447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 139 (K139N)

Ref Sequence

ENSEMBL: ENSMUSP00000051550 (fasta)

Gene Model

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

AlphaFold

L7MTS5

Predicted Effect

probably benign
Transcript: ENSMUST00000052027
AA Change: K139N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000051550
Gene: ENSMUSG00000070890
AA Change: K139N

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

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.2%
20x: 90.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,936,071 (GRCm39)		probably benign	Het
Adgrv1	G	A	13: 81,627,861 (GRCm39)	R3667*	probably null	Het
Adh5	T	G	3: 138,156,835 (GRCm39)	C174G	probably damaging	Het
Cap1	A	C	4: 122,756,692 (GRCm39)		probably null	Het
Caps2	G	A	10: 112,051,490 (GRCm39)	R587H	probably damaging	Het
Ccn1	T	A	3: 145,353,525 (GRCm39)	M346L	possibly damaging	Het
Cdo1	A	G	18: 46,848,812 (GRCm39)	V142A	probably damaging	Het
Chuk	T	C	19: 44,079,467 (GRCm39)	T345A	probably damaging	Het
Cobll1	T	C	2: 64,932,409 (GRCm39)		probably null	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cop1	T	C	1: 159,147,386 (GRCm39)	Y571H	probably benign	Het
Cstpp1	T	A	2: 91,214,182 (GRCm39)	T58S	probably damaging	Het
Dcc	A	G	18: 71,959,283 (GRCm39)	V163A	probably benign	Het
Dnah11	G	T	12: 117,897,585 (GRCm39)	N3548K	probably damaging	Het
Ehhadh	G	T	16: 21,592,247 (GRCm39)	S152*	probably null	Het
Fitm2	T	C	2: 163,311,734 (GRCm39)	T160A	probably benign	Het
Fos	C	T	12: 85,522,457 (GRCm39)	T162I	probably damaging	Het
Fsd2	T	C	7: 81,190,145 (GRCm39)	I546V	probably benign	Het
Gal3st2c	T	C	1: 93,934,669 (GRCm39)	V19A	possibly damaging	Het
Gorasp2	T	A	2: 70,521,298 (GRCm39)	S443T	probably benign	Het
Klf4	G	A	4: 55,530,191 (GRCm39)	H307Y	probably damaging	Het
Ldc1	A	C	4: 130,115,417 (GRCm39)	S44A	probably benign	Het
Mark3	A	G	12: 111,593,658 (GRCm39)	D230G	possibly damaging	Het
Mnat1	T	G	12: 73,170,706 (GRCm39)		probably null	Het
Or5m9b	T	C	2: 85,905,510 (GRCm39)	L142P	possibly damaging	Het
Otogl	T	G	10: 107,608,157 (GRCm39)	T2073P	probably benign	Het
Pdxdc1	A	C	16: 13,672,257 (GRCm39)		probably null	Het
Pkhd1l1	T	C	15: 44,358,993 (GRCm39)	S401P	probably damaging	Het
Polr1a	T	C	6: 71,901,627 (GRCm39)	Y262H	probably damaging	Het
Scamp4	T	C	10: 80,450,537 (GRCm39)	F205L	probably benign	Het
Scn1a	C	T	2: 66,155,099 (GRCm39)	S620N	probably benign	Het
Scn7a	C	T	2: 66,527,944 (GRCm39)	D849N	possibly damaging	Het
Slc17a8	T	C	10: 89,442,596 (GRCm39)	D79G	possibly damaging	Het
Sync	A	G	4: 129,187,897 (GRCm39)	S310G	probably benign	Het
Tbc1d9b	A	C	11: 50,062,148 (GRCm39)	I1219L	probably benign	Het
Vmn1r47	T	A	6: 89,999,657 (GRCm39)	M263K	probably benign	Het
Zfp773	A	T	7: 7,135,691 (GRCm39)	C302S	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
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
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'- TGCAGCTCATGCAGTGTTCTTGCC -3'
(R):5'- AGCAGAAACAGGTCCCCATCTTTCC -3'

Sequencing Primer
(F):5'- TGCTATGATGGAGCTGACATTAGAC -3'
(R):5'- AGGAATTTGGCAGCACCTC -3'

Posted On

2013-10-16