Mutagenetix > Incidental Mutation

Incidental Mutation 'R1267:Pramel21'

151185

Institutional Source

Beutler Lab

Gene Symbol

Pramel21

Ensembl Gene

ENSMUSG00000066688

Gene Name

PRAME like 21

Synonyms

Gm13083

MMRRC Submission

039334-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R1267 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

143341573-143345165 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 143342304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 137 (G137E)

Ref Sequence

ENSEMBL: ENSMUSP00000101399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105773]

AlphaFold

A2AGW5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105773
AA Change: G137E

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101399
Gene: ENSMUSG00000066688
AA Change: G137E

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	223	431	7e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120556

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1b	G	A	1: 36,739,185 (GRCm39)	S368F	probably benign	Het
Asb4	T	A	6: 5,423,747 (GRCm39)	V298E	probably damaging	Het
Ddx28	A	G	8: 106,736,549 (GRCm39)	V503A	probably damaging	Het
Dock1	T	C	7: 134,348,165 (GRCm39)	Y259H	probably damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Nrbp1	A	G	5: 31,407,934 (GRCm39)	K459R	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sntg2	G	A	12: 30,295,127 (GRCm39)	T280M	probably benign	Het
Stat5b	C	T	11: 100,689,419 (GRCm39)	V227M	probably benign	Het
Taf4	A	G	2: 179,571,117 (GRCm39)	I732T	possibly damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Thsd7b	T	A	1: 129,556,577 (GRCm39)		probably null	Het

Other mutations in Pramel21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02052:Pramel21	APN	4	143,341,643 (GRCm39)	missense	probably benign	0.00
IGL02390:Pramel21	APN	4	143,341,895 (GRCm39)	missense	probably benign	0.29
IGL02676:Pramel21	APN	4	143,342,667 (GRCm39)	missense	possibly damaging	0.75
IGL03381:Pramel21	APN	4	143,343,625 (GRCm39)	splice site	probably benign
IGL03410:Pramel21	APN	4	143,341,851 (GRCm39)	missense	probably benign	0.02
H8562:Pramel21	UTSW	4	143,341,920 (GRCm39)	splice site	probably benign
PIT4151001:Pramel21	UTSW	4	143,342,722 (GRCm39)	nonsense	probably null
R0157:Pramel21	UTSW	4	143,342,366 (GRCm39)	missense	probably damaging	0.98
R0352:Pramel21	UTSW	4	143,342,559 (GRCm39)	missense	possibly damaging	0.92
R0494:Pramel21	UTSW	4	143,342,726 (GRCm39)	missense	probably benign	0.33
R0688:Pramel21	UTSW	4	143,343,927 (GRCm39)	missense	probably benign	0.00
R0884:Pramel21	UTSW	4	143,341,754 (GRCm39)	missense	probably benign	0.01
R1418:Pramel21	UTSW	4	143,342,604 (GRCm39)	missense	probably benign	0.15
R1761:Pramel21	UTSW	4	143,342,438 (GRCm39)	missense	probably benign	0.00
R3148:Pramel21	UTSW	4	143,344,047 (GRCm39)	missense	probably benign	0.30
R4063:Pramel21	UTSW	4	143,342,559 (GRCm39)	missense	possibly damaging	0.77
R4115:Pramel21	UTSW	4	143,344,026 (GRCm39)	missense	probably benign	0.06
R4760:Pramel21	UTSW	4	143,343,801 (GRCm39)	missense	probably benign	0.04
R5516:Pramel21	UTSW	4	143,342,253 (GRCm39)	missense	possibly damaging	0.49
R5603:Pramel21	UTSW	4	143,344,066 (GRCm39)	nonsense	probably null
R5724:Pramel21	UTSW	4	143,344,026 (GRCm39)	missense	probably benign	0.06
R5796:Pramel21	UTSW	4	143,341,778 (GRCm39)	missense	probably benign	0.12
R5879:Pramel21	UTSW	4	143,344,161 (GRCm39)	missense	possibly damaging	0.64
R6181:Pramel21	UTSW	4	143,342,828 (GRCm39)	critical splice donor site	probably null
R7155:Pramel21	UTSW	4	143,342,735 (GRCm39)	missense	probably benign	0.01
R7492:Pramel21	UTSW	4	143,342,744 (GRCm39)	missense	not run
R7913:Pramel21	UTSW	4	143,341,615 (GRCm39)	missense	possibly damaging	0.87
R7995:Pramel21	UTSW	4	143,342,570 (GRCm39)	missense	possibly damaging	0.89
R8126:Pramel21	UTSW	4	143,343,635 (GRCm39)	missense	possibly damaging	0.87
R8901:Pramel21	UTSW	4	143,343,677 (GRCm39)	missense	probably benign	0.00
R9061:Pramel21	UTSW	4	143,342,741 (GRCm39)	missense	possibly damaging	0.94
R9095:Pramel21	UTSW	4	143,341,760 (GRCm39)	missense	probably damaging	1.00
R9170:Pramel21	UTSW	4	143,341,600 (GRCm39)	missense	possibly damaging	0.78
R9445:Pramel21	UTSW	4	143,343,795 (GRCm39)	missense	probably damaging	1.00
R9666:Pramel21	UTSW	4	143,341,699 (GRCm39)	missense	probably benign	0.00
Z1088:Pramel21	UTSW	4	143,341,802 (GRCm39)	missense	possibly damaging	0.78
Z1177:Pramel21	UTSW	4	143,342,730 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CTCTACCCCAGCCACTTGAGAAATG -3'
(R):5'- TCATAGGCAGGAATGGCCCCAAAC -3'

Sequencing Primer
(F):5'- ATGGGTCCTGCAGATTACAC -3'
(R):5'- AGCTTCTCACAGATCACCTG -3'

Posted On

2014-01-29