Mutagenetix > Incidental Mutation

Incidental Mutation 'R5532:Pramel31'

436211

Institutional Source

Beutler Lab

Gene Symbol

Pramel31

Ensembl Gene

ENSMUSG00000070619

Gene Name

PRAME like 31

Synonyms

Gm13119

MMRRC Submission

043090-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5532 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

144084534-144090989 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144090061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 367 (D367V)

Ref Sequence

ENSEMBL: ENSMUSP00000092103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094526]

AlphaFold

B1ARV5

Predicted Effect

probably damaging
Transcript: ENSMUST00000094526
AA Change: D367V

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

SMART Domains

Protein: ENSMUSP00000092103
Gene: ENSMUSG00000070619
AA Change: D367V

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	210	414	3e-10	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,530,293 (GRCm39)		probably null	Het
Adsl	C	G	15: 80,848,110 (GRCm39)	P118A	probably damaging	Het
Ano6	C	T	15: 95,860,122 (GRCm39)	P748L	probably damaging	Het
Arhgap10	A	T	8: 78,146,701 (GRCm39)	N234K	probably benign	Het
Arhgap18	T	A	10: 26,722,104 (GRCm39)	I25K	possibly damaging	Het
AW551984	T	C	9: 39,508,481 (GRCm39)	Y345C	probably damaging	Het
Ccdc146	A	G	5: 21,510,329 (GRCm39)	V561A	probably benign	Het
Cenpv	G	A	11: 62,418,398 (GRCm39)	T185M	probably damaging	Het
Fat2	T	A	11: 55,153,163 (GRCm39)	D3683V	probably damaging	Het
Galns	T	C	8: 123,311,765 (GRCm39)	D415G	possibly damaging	Het
Gatad2a	G	A	8: 70,369,070 (GRCm39)	T259M	probably damaging	Het
Gja8	T	C	3: 96,827,648 (GRCm39)	S5G	probably benign	Het
Ifi209	T	C	1: 173,466,542 (GRCm39)	S125P	probably damaging	Het
Iigp1c	A	G	18: 60,379,142 (GRCm39)	I226V	probably benign	Het
Il12rb2	G	A	6: 67,269,246 (GRCm39)	R856W	probably damaging	Het
Kcnq3	A	T	15: 65,869,622 (GRCm39)	Y605*	probably null	Het
Klk1b16	T	C	7: 43,790,950 (GRCm39)	S251P	probably benign	Het
Map2	A	G	1: 66,453,779 (GRCm39)	N890D	probably damaging	Het
Map4	T	A	9: 109,863,746 (GRCm39)	S324T	probably benign	Het
Mmp28	T	C	11: 83,333,684 (GRCm39)	D419G	probably damaging	Het
Mtnr1b	A	G	9: 15,774,210 (GRCm39)	L283P	probably benign	Het
Ndufb7	T	A	8: 84,298,063 (GRCm39)	Y95N	probably damaging	Het
Nfrkb	C	T	9: 31,309,075 (GRCm39)	R280W	probably damaging	Het
Npc1l1	A	G	11: 6,174,245 (GRCm39)	Y687H	probably damaging	Het
Or6f1	A	C	7: 85,970,879 (GRCm39)	F94V	possibly damaging	Het
Or8b40	C	T	9: 38,027,923 (GRCm39)	T277I	probably benign	Het
Or8g51	T	C	9: 38,608,943 (GRCm39)	T240A	probably damaging	Het
Or8h9	T	A	2: 86,788,924 (GRCm39)	R293*	probably null	Het
Pabpc4l	T	C	3: 46,401,044 (GRCm39)	D200G	probably benign	Het
Plekhg6	T	C	6: 125,349,514 (GRCm39)	E361G	possibly damaging	Het
Rictor	A	G	15: 6,819,046 (GRCm39)	Y1423C	probably damaging	Het
Rsf1	G	A	7: 97,329,902 (GRCm39)	D1143N	probably damaging	Het
Spsb4	C	T	9: 96,877,627 (GRCm39)		probably null	Het
Strada	G	T	11: 106,061,843 (GRCm39)	A136E	probably damaging	Het
Syce2	A	T	8: 85,610,131 (GRCm39)	Q73L	probably damaging	Het
Teddm2	A	T	1: 153,726,130 (GRCm39)	V195D	probably benign	Het
Tex36	A	T	7: 133,203,712 (GRCm39)	N12K	probably benign	Het
Ubtf	A	G	11: 102,199,785 (GRCm39)	S484P	probably benign	Het
Ufd1	T	G	16: 18,636,680 (GRCm39)	L66R	probably damaging	Het
Vmn2r74	C	T	7: 85,601,197 (GRCm39)	A814T	probably benign	Het
Vmn2r98	T	C	17: 19,287,645 (GRCm39)	S493P	possibly damaging	Het
Xrcc1	T	A	7: 24,267,353 (GRCm39)		probably null	Het
Zfp277	A	C	12: 40,385,308 (GRCm39)	C305G	probably damaging	Het
Zfp998	A	T	13: 66,579,740 (GRCm39)	C248S	probably damaging	Het

Other mutations in Pramel31

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Pramel31	APN	4	144,089,100 (GRCm39)	missense	possibly damaging	0.91
IGL00485:Pramel31	APN	4	144,090,012 (GRCm39)	missense	probably damaging	0.99
IGL01025:Pramel31	APN	4	144,089,947 (GRCm39)	missense	probably damaging	1.00
IGL01102:Pramel31	APN	4	144,090,195 (GRCm39)	missense	probably benign	0.08
IGL01631:Pramel31	APN	4	144,089,015 (GRCm39)	missense	probably benign	0.12
IGL02228:Pramel31	APN	4	144,089,231 (GRCm39)	missense	probably damaging	1.00
IGL02708:Pramel31	APN	4	144,089,983 (GRCm39)	missense	probably damaging	1.00
IGL02827:Pramel31	APN	4	144,090,331 (GRCm39)	missense	probably damaging	1.00
IGL03398:Pramel31	APN	4	144,090,061 (GRCm39)	missense	probably damaging	1.00
R0403:Pramel31	UTSW	4	144,089,216 (GRCm39)	missense	probably benign	0.00
R0627:Pramel31	UTSW	4	144,089,416 (GRCm39)	missense	probably benign	0.03
R0632:Pramel31	UTSW	4	144,090,352 (GRCm39)	missense	probably damaging	1.00
R1783:Pramel31	UTSW	4	144,088,295 (GRCm39)	missense	probably benign	0.01
R1895:Pramel31	UTSW	4	144,088,435 (GRCm39)	missense	probably benign	0.11
R1946:Pramel31	UTSW	4	144,088,435 (GRCm39)	missense	probably benign	0.11
R2263:Pramel31	UTSW	4	144,090,111 (GRCm39)	missense	probably benign	0.00
R2389:Pramel31	UTSW	4	144,089,983 (GRCm39)	missense	probably damaging	1.00
R2435:Pramel31	UTSW	4	144,089,473 (GRCm39)	missense	possibly damaging	0.75
R3013:Pramel31	UTSW	4	144,089,025 (GRCm39)	missense	probably damaging	0.98
R3021:Pramel31	UTSW	4	144,088,369 (GRCm39)	missense	probably damaging	0.99
R3106:Pramel31	UTSW	4	144,088,246 (GRCm39)	missense	probably benign	0.04
R5237:Pramel31	UTSW	4	144,089,041 (GRCm39)	nonsense	probably null
R5411:Pramel31	UTSW	4	144,088,207 (GRCm39)	start codon destroyed	probably null	1.00
R6229:Pramel31	UTSW	4	144,090,199 (GRCm39)	missense	probably benign	0.03
R6277:Pramel31	UTSW	4	144,090,223 (GRCm39)	missense	probably damaging	1.00
R6625:Pramel31	UTSW	4	144,090,369 (GRCm39)	missense	probably damaging	1.00
R6717:Pramel31	UTSW	4	144,089,227 (GRCm39)	missense	probably benign	0.00
R7103:Pramel31	UTSW	4	144,090,297 (GRCm39)	missense	probably benign	0.00
R7207:Pramel31	UTSW	4	144,088,473 (GRCm39)	missense	probably benign	0.08
R8934:Pramel31	UTSW	4	144,090,345 (GRCm39)	missense	possibly damaging	0.54
R9325:Pramel31	UTSW	4	144,089,093 (GRCm39)	missense	probably benign
R9411:Pramel31	UTSW	4	144,089,997 (GRCm39)	missense	probably benign	0.00
Z1177:Pramel31	UTSW	4	144,089,543 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CTCTCCTTAGGTGTCTGAAGACTC -3'
(R):5'- TAGCATTCCAGAGGAGCAGG -3'

Sequencing Primer
(F):5'- ATGGCTCTCTGCAAGTACTCACAG -3'
(R):5'- GATAAAGCTCCATGATCAGCTGGC -3'

Posted On

2016-10-24