Mutagenetix > Incidental Mutation

Incidental Mutation 'R1755:Pramel27'

194764

Institutional Source

Beutler Lab

Gene Symbol

Pramel27

Ensembl Gene

ENSMUSG00000029451

Gene Name

PRAME like 27

Synonyms

Gm13103

MMRRC Submission

039787-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R1755 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

143573067-143580207 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143577380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 3 (F3S)

Ref Sequence

ENSEMBL: ENSMUSP00000123640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094522] [ENSMUST00000105768] [ENSMUST00000139747]

AlphaFold

Q4VAD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000094522
AA Change: F54S

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

SMART Domains

Protein: ENSMUSP00000092099
Gene: ENSMUSG00000029451
AA Change: F54S

Domain	Start	End	E-Value	Type
low complexity region	403	413	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000105768
AA Change: F54S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000139747
AA Change: F3S

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	G	A	8: 88,315,585 (GRCm39)	R225H	possibly damaging	Het
9330159F19Rik	A	T	10: 29,098,290 (GRCm39)	H199L	possibly damaging	Het
Acaca	AC	A	11: 84,167,390 (GRCm39)		probably null	Het
Adam23	G	A	1: 63,582,329 (GRCm39)	V326M	probably damaging	Het
Aldh1a2	T	A	9: 71,169,023 (GRCm39)	Y168*	probably null	Het
Ano6	A	G	15: 95,870,451 (GRCm39)	K869E	possibly damaging	Het
Aplp2	G	A	9: 31,088,400 (GRCm39)	A106V	probably damaging	Het
Arhgdib	T	A	6: 136,906,612 (GRCm39)	K30*	probably null	Het
Arl11	A	G	14: 61,548,393 (GRCm39)	T68A	probably benign	Het
Atg7	A	G	6: 114,650,638 (GRCm39)	T83A	possibly damaging	Het
Card9	T	C	2: 26,249,546 (GRCm39)	E5G	probably damaging	Het
Cars1	A	G	7: 143,123,194 (GRCm39)	V474A	probably damaging	Het
Cd300ld2	A	G	11: 114,904,601 (GRCm39)	F89L	probably benign	Het
Celf2	T	A	2: 6,889,769 (GRCm39)	M1L	probably benign	Het
Cnot1	T	C	8: 96,451,205 (GRCm39)	D2174G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cox6b2	A	G	7: 4,754,937 (GRCm39)	F74S	probably damaging	Het
Cyp11b1	T	A	15: 74,710,383 (GRCm39)	Q306L	probably benign	Het
Ddx3y	A	G	Y: 1,279,543 (GRCm39)	I107T	probably benign	Het
Dnah5	A	T	15: 28,326,782 (GRCm39)	Y1997F	probably damaging	Het
Dync2i1	A	G	12: 116,189,649 (GRCm39)	L620P	probably damaging	Het
Epha4	A	T	1: 77,364,460 (GRCm39)	I683N	probably damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Gmip	A	G	8: 70,266,774 (GRCm39)	I296M	probably damaging	Het
Gpr37l1	A	G	1: 135,094,639 (GRCm39)	S202P	probably damaging	Het
Ifi208	C	A	1: 173,505,476 (GRCm39)	D75E	possibly damaging	Het
Il24	T	C	1: 130,811,680 (GRCm39)	N132S	possibly damaging	Het
Katnal2	A	G	18: 77,099,763 (GRCm39)	C124R	probably benign	Het
Kcnq3	A	T	15: 65,867,270 (GRCm39)	L791Q	probably damaging	Het
Kcns3	T	A	12: 11,141,445 (GRCm39)	D418V	probably benign	Het
Kif13a	A	G	13: 46,906,089 (GRCm39)	V618A	possibly damaging	Het
Kif13a	A	T	13: 46,927,154 (GRCm39)	V1179E	possibly damaging	Het
Lpp	A	G	16: 24,663,874 (GRCm39)	I259V	probably benign	Het
Mapkapk2	A	G	1: 130,986,087 (GRCm39)		probably null	Het
Marchf7	T	C	2: 60,065,265 (GRCm39)	S514P	probably benign	Het
Nr4a2	T	A	2: 56,999,104 (GRCm39)	L381F	probably damaging	Het
Nt5dc3	A	G	10: 86,660,115 (GRCm39)	D328G	probably damaging	Het
Obox6	T	C	7: 15,568,445 (GRCm39)	K144E	probably damaging	Het
Oga	A	T	19: 45,746,845 (GRCm39)	M735K	possibly damaging	Het
Olfml2b	G	A	1: 170,509,346 (GRCm39)	V565M	probably damaging	Het
Or1d2	T	C	11: 74,255,819 (GRCm39)	V108A	probably damaging	Het
Orc3	G	A	4: 34,575,114 (GRCm39)	A590V	possibly damaging	Het
Picalm	T	C	7: 89,809,757 (GRCm39)	S78P	possibly damaging	Het
Por	T	A	5: 135,758,339 (GRCm39)	Y105*	probably null	Het
Ppara	A	G	15: 85,682,180 (GRCm39)	K292R	probably benign	Het
Prss59	T	G	6: 40,903,096 (GRCm39)	Y92S	probably damaging	Het
Ralgds	T	A	2: 28,440,558 (GRCm39)	I844N	probably damaging	Het
Rttn	T	C	18: 89,027,441 (GRCm39)	Y519H	probably damaging	Het
Scn9a	A	G	2: 66,332,060 (GRCm39)	V1261A	probably benign	Het
Slc2a2	T	A	3: 28,767,811 (GRCm39)		probably null	Het
Slc5a7	T	C	17: 54,600,006 (GRCm39)	M136V	probably benign	Het
Smc4	C	A	3: 68,941,441 (GRCm39)	A1232E	probably damaging	Het
Smg1	A	T	7: 117,802,287 (GRCm39)	C270*	probably null	Het
Sparcl1	C	T	5: 104,240,690 (GRCm39)	E245K	probably benign	Het
Taf2	T	C	15: 54,879,850 (GRCm39)	H1162R	probably damaging	Het
Tlr3	T	C	8: 45,851,010 (GRCm39)	D105G	probably benign	Het
Tmem62	T	C	2: 120,814,958 (GRCm39)		probably null	Het
Triobp	G	A	15: 78,850,679 (GRCm39)	A278T	probably benign	Het
Ufd1	T	G	16: 18,642,003 (GRCm39)	C151W	probably damaging	Het
Upk1b	T	G	16: 38,600,402 (GRCm39)	M193L	probably benign	Het
Usp15	A	G	10: 122,968,949 (GRCm39)	M334T	probably damaging	Het
Utp20	A	G	10: 88,645,631 (GRCm39)	S541P	probably benign	Het
Vmn1r61	A	T	7: 5,614,302 (GRCm39)	L4*	probably null	Het
Vmn2r96	G	A	17: 18,802,915 (GRCm39)	G83D	possibly damaging	Het
Zbtb8a	T	C	4: 129,248,110 (GRCm39)	D387G	possibly damaging	Het
Zfp106	A	T	2: 120,365,656 (GRCm39)	N250K	probably damaging	Het
Zfp292	A	G	4: 34,811,043 (GRCm39)	V667A	probably benign	Het

Other mutations in Pramel27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01363:Pramel27	APN	4	143,579,846 (GRCm39)	missense	probably benign	0.01
IGL01383:Pramel27	APN	4	143,573,102 (GRCm39)	utr 5 prime	probably benign
IGL01735:Pramel27	APN	4	143,578,401 (GRCm39)	missense	probably damaging	1.00
IGL01976:Pramel27	APN	4	143,579,363 (GRCm39)	missense	probably benign	0.17
IGL03096:Pramel27	APN	4	143,577,485 (GRCm39)	missense	probably benign	0.01
IGL03280:Pramel27	APN	4	143,578,489 (GRCm39)	missense	possibly damaging	0.74
IGL03295:Pramel27	APN	4	143,579,759 (GRCm39)	missense	probably damaging	1.00
FR4342:Pramel27	UTSW	4	143,578,213 (GRCm39)	frame shift	probably null
PIT4687001:Pramel27	UTSW	4	143,573,103 (GRCm39)	start gained	probably benign
R0218:Pramel27	UTSW	4	143,578,401 (GRCm39)	missense	probably damaging	1.00
R0612:Pramel27	UTSW	4	143,578,658 (GRCm39)	unclassified	probably benign
R2509:Pramel27	UTSW	4	143,578,561 (GRCm39)	missense	probably benign	0.01
R2510:Pramel27	UTSW	4	143,578,561 (GRCm39)	missense	probably benign	0.01
R2511:Pramel27	UTSW	4	143,578,561 (GRCm39)	missense	probably benign	0.01
R4603:Pramel27	UTSW	4	143,579,451 (GRCm39)	missense	probably benign	0.01
R4694:Pramel27	UTSW	4	143,579,530 (GRCm39)	missense	probably damaging	0.97
R4856:Pramel27	UTSW	4	143,579,873 (GRCm39)	missense	probably benign	0.00
R4886:Pramel27	UTSW	4	143,579,873 (GRCm39)	missense	probably benign	0.00
R4927:Pramel27	UTSW	4	143,578,187 (GRCm39)	missense	probably damaging	1.00
R5168:Pramel27	UTSW	4	143,579,768 (GRCm39)	missense	probably benign	0.02
R5270:Pramel27	UTSW	4	143,578,468 (GRCm39)	missense	probably damaging	0.97
R5402:Pramel27	UTSW	4	143,578,225 (GRCm39)	critical splice donor site	probably null
R5618:Pramel27	UTSW	4	143,577,263 (GRCm39)	missense	possibly damaging	0.92
R6078:Pramel27	UTSW	4	143,578,155 (GRCm39)	missense	possibly damaging	0.58
R6138:Pramel27	UTSW	4	143,578,155 (GRCm39)	missense	possibly damaging	0.58
R6362:Pramel27	UTSW	4	143,579,435 (GRCm39)	missense	probably damaging	0.99
R6526:Pramel27	UTSW	4	143,579,384 (GRCm39)	missense	probably damaging	1.00
R6555:Pramel27	UTSW	4	143,578,140 (GRCm39)	missense	possibly damaging	0.58
R6595:Pramel27	UTSW	4	143,579,326 (GRCm39)	missense	probably damaging	1.00
R6675:Pramel27	UTSW	4	143,579,828 (GRCm39)	missense	probably damaging	0.98
R7216:Pramel27	UTSW	4	143,578,399 (GRCm39)	missense	probably damaging	0.96
R7282:Pramel27	UTSW	4	143,578,451 (GRCm39)	missense	possibly damaging	0.85
R7424:Pramel27	UTSW	4	143,579,779 (GRCm39)	missense	probably benign	0.01
R7511:Pramel27	UTSW	4	143,573,116 (GRCm39)	missense	possibly damaging	0.68
R7591:Pramel27	UTSW	4	143,577,481 (GRCm39)	missense	probably benign	0.01
R7868:Pramel27	UTSW	4	143,578,154 (GRCm39)	missense	possibly damaging	0.58
R8192:Pramel27	UTSW	4	143,578,109 (GRCm39)	nonsense	probably null
R8244:Pramel27	UTSW	4	143,579,854 (GRCm39)	missense	probably damaging	1.00
R8256:Pramel27	UTSW	4	143,578,255 (GRCm39)	missense	probably benign	0.05
R8531:Pramel27	UTSW	4	143,579,601 (GRCm39)	missense	probably benign	0.00
R8540:Pramel27	UTSW	4	143,579,496 (GRCm39)	missense	probably benign	0.00
R8793:Pramel27	UTSW	4	143,577,627 (GRCm39)	intron	probably benign
R8880:Pramel27	UTSW	4	143,573,140 (GRCm39)	critical splice donor site	probably null
R9069:Pramel27	UTSW	4	143,578,345 (GRCm39)	missense	probably benign	0.00
R9603:Pramel27	UTSW	4	143,578,267 (GRCm39)	missense
R9748:Pramel27	UTSW	4	143,579,892 (GRCm39)	makesense	probably null
R9797:Pramel27	UTSW	4	143,579,818 (GRCm39)	missense	possibly damaging	0.79
U15987:Pramel27	UTSW	4	143,578,155 (GRCm39)	missense	possibly damaging	0.58
Z1176:Pramel27	UTSW	4	143,579,680 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- TCGCAACACCAGAGACAATTATGGC -3'
(R):5'- CCCAGCAAATCTTGTCTACCTGGAG -3'

Sequencing Primer
(F):5'- tgagcagcgatggaacac -3'
(R):5'- AATCTTGTCTACCTGGAGTGAAGC -3'

Posted On

2014-05-23