Mutagenetix > Incidental Mutation

Incidental Mutation 'R0606:Pramel16'

54133

Institutional Source

Beutler Lab

Gene Symbol

Pramel16

Ensembl Gene

ENSMUSG00000078511

Gene Name

PRAME like 16

Synonyms

Pramef25, Gm13109

MMRRC Submission

038795-MU

Accession Numbers

Essential gene?

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

Stock #

R0606 (G1)

Quality Score

157

Status

Validated

Chromosome

Chromosomal Location

143675150-143677586 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143676453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 217 (Y217F)

Ref Sequence

ENSEMBL: ENSMUSP00000101392 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105766]

AlphaFold

A2ASI9

Predicted Effect

probably benign
Transcript: ENSMUST00000105766
AA Change: Y217F

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101392
Gene: ENSMUSG00000078511
AA Change: Y217F

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	223	427	2e-10	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (99/101)

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl9	T	C	17: 33,652,572 (GRCm39)	Y211H	probably damaging	Het
Actn1	A	T	12: 80,221,421 (GRCm39)		probably benign	Het
Adtrp	A	G	13: 41,920,881 (GRCm39)	F197L	probably damaging	Het
Ankrd11	G	A	8: 123,619,571 (GRCm39)	T1406I	probably benign	Het
Arhgap24	A	T	5: 103,045,086 (GRCm39)	R620W	probably damaging	Het
Atg13	A	G	2: 91,512,418 (GRCm39)	Y284H	probably benign	Het
Atrn	A	G	2: 130,748,776 (GRCm39)	E99G	possibly damaging	Het
Cage1	A	T	13: 38,200,470 (GRCm39)		probably benign	Het
Cblif	A	T	19: 11,729,658 (GRCm39)	I206F	possibly damaging	Het
Ccr3	T	A	9: 123,828,839 (GRCm39)	M58K	probably benign	Het
Cdk18	G	T	1: 132,045,355 (GRCm39)		probably benign	Het
Chst5	A	G	8: 112,617,551 (GRCm39)	V23A	probably benign	Het
Col4a3	T	C	1: 82,650,307 (GRCm39)		probably benign	Het
Col4a6	A	G	X: 139,975,219 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 48,321,058 (GRCm39)	I251V	probably benign	Het
Csnk1g3	G	A	18: 54,050,100 (GRCm39)	V115M	probably damaging	Het
Cst7	A	T	2: 150,412,439 (GRCm39)	M1L	probably benign	Het
Cyp4f17	A	T	17: 32,746,817 (GRCm39)	D373V	probably damaging	Het
Dclk2	G	A	3: 86,813,311 (GRCm39)	R212W	probably damaging	Het
Dhrs7b	T	G	11: 60,721,572 (GRCm39)		probably benign	Het
Dhx58	T	A	11: 100,593,077 (GRCm39)	H210L	probably benign	Het
Dnah9	T	C	11: 65,732,159 (GRCm39)	Y4249C	probably damaging	Het
Eif5b	T	A	1: 38,087,974 (GRCm39)	L990H	probably damaging	Het
Faap24	T	C	7: 35,094,388 (GRCm39)		probably benign	Het
Fryl	T	A	5: 73,282,077 (GRCm39)	H174L	probably benign	Het
Gabrr1	T	C	4: 33,132,696 (GRCm39)	W15R	probably benign	Het
Gm15446	T	C	5: 110,091,347 (GRCm39)	V533A	probably benign	Het
Gm6760	T	A	X: 63,195,259 (GRCm39)	K63*	probably null	Het
Gne	C	T	4: 44,042,244 (GRCm39)	E444K	possibly damaging	Het
Gpr173	T	A	X: 151,130,036 (GRCm39)	M146L	possibly damaging	Het
Hira	C	T	16: 18,753,797 (GRCm39)	S547L	probably benign	Het
Hnf1b	A	G	11: 83,754,810 (GRCm39)	H161R	probably benign	Het
Hnrnpm	T	A	17: 33,877,364 (GRCm39)	N53I	probably damaging	Het
Hs3st5	A	T	10: 36,708,584 (GRCm39)	I40F	probably benign	Het
Hydin	C	T	8: 111,276,430 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,411,657 (GRCm39)	I1607T	probably damaging	Het
Igfn1	T	C	1: 135,887,639 (GRCm39)	Q2475R	probably damaging	Het
Il6st	T	C	13: 112,640,806 (GRCm39)	S800P	possibly damaging	Het
Iqub	G	A	6: 24,501,260 (GRCm39)		probably benign	Het
Itgb1	A	T	8: 129,448,853 (GRCm39)		probably benign	Het
Kctd21	G	A	7: 96,996,808 (GRCm39)	E94K	probably benign	Het
Kir3dl2	A	G	X: 135,354,260 (GRCm39)	V233A	possibly damaging	Het
Klra2	A	T	6: 131,197,187 (GRCm39)	C271S	probably damaging	Het
Lacc1	A	T	14: 77,267,061 (GRCm39)	C401S	probably damaging	Het
Lmna	T	C	3: 88,389,885 (GRCm39)	E580G	probably damaging	Het
Matn2	A	G	15: 34,345,296 (GRCm39)	Y101C	probably damaging	Het
Mrps16	G	A	14: 20,441,457 (GRCm39)	R116*	probably null	Het
Ndrg2	G	T	14: 52,143,674 (GRCm39)	R333S	probably damaging	Het
Nf2	A	G	11: 4,732,194 (GRCm39)	I507T	possibly damaging	Het
Nktr	A	G	9: 121,578,356 (GRCm39)		probably benign	Het
Nkx3-1	G	A	14: 69,428,455 (GRCm39)		probably benign	Het
Npat	T	C	9: 53,467,781 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,872,801 (GRCm39)	N1047S	probably damaging	Het
Nup210	A	T	6: 91,003,911 (GRCm39)	I1402N	possibly damaging	Het
Or5d40	G	T	2: 88,015,624 (GRCm39)	M134I	possibly damaging	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Pdcl2	C	T	5: 76,460,328 (GRCm39)	S182N	probably benign	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pla2g4a	A	G	1: 149,716,455 (GRCm39)	F669L	probably benign	Het
Plekha8	A	G	6: 54,606,805 (GRCm39)	K367E	probably damaging	Het
Pola1	A	G	X: 92,531,693 (GRCm39)		probably benign	Het
Ppm1d	C	T	11: 85,236,703 (GRCm39)	T494I	probably benign	Het
Prl6a1	A	T	13: 27,498,177 (GRCm39)		probably benign	Het
Ptprg	T	A	14: 12,154,131 (GRCm38)	S617R	probably benign	Het
R3hdm2	G	A	10: 127,280,313 (GRCm39)	G45D	probably damaging	Het
Rev1	T	A	1: 38,098,204 (GRCm39)	R780W	probably null	Het
Rnf139	T	A	15: 58,771,676 (GRCm39)	F567Y	probably damaging	Het
Scarf1	T	C	11: 75,405,174 (GRCm39)	V71A	probably damaging	Het
Shtn1	A	G	19: 58,988,372 (GRCm39)	S438P	probably damaging	Het
Slc30a3	T	A	5: 31,246,067 (GRCm39)	H221L	probably benign	Het
Smo	A	C	6: 29,753,603 (GRCm39)	I160L	possibly damaging	Het
Snapc5	A	T	9: 64,086,582 (GRCm39)		probably benign	Het
Snf8	G	T	11: 95,925,799 (GRCm39)		probably benign	Het
Spata31d1a	T	C	13: 59,850,245 (GRCm39)	S628G	probably benign	Het
Sphkap	A	T	1: 83,258,145 (GRCm39)	D199E	probably damaging	Het
Spring1	T	C	5: 118,397,154 (GRCm39)	Y128H	probably damaging	Het
Stxbp5l	T	C	16: 37,024,883 (GRCm39)	T572A	possibly damaging	Het
Thada	C	A	17: 84,723,731 (GRCm39)	V1108L	possibly damaging	Het
Tln1	T	C	4: 43,547,756 (GRCm39)	Q735R	probably benign	Het
Trim24	G	A	6: 37,848,169 (GRCm39)	E42K	probably benign	Het
Trnt1	T	A	6: 106,754,869 (GRCm39)		probably benign	Het
Ttbk2	A	T	2: 120,604,353 (GRCm39)	M215K	probably damaging	Het
Ttc8	C	T	12: 98,909,718 (GRCm39)		probably benign	Het
Ube3c	A	G	5: 29,795,926 (GRCm39)	Y105C	probably damaging	Het
Unc13c	A	G	9: 73,438,265 (GRCm39)		probably benign	Het
Usp36	A	G	11: 118,153,854 (GRCm39)		probably benign	Het
Vcf2	C	T	X: 149,181,360 (GRCm39)	A144T	probably benign	Het
Vmn2r102	T	C	17: 19,899,106 (GRCm39)	S483P	possibly damaging	Het
Wdr95	A	G	5: 149,511,595 (GRCm39)	T432A	probably damaging	Het
Wnk1	G	T	6: 119,903,644 (GRCm39)	P2523H	probably damaging	Het
Xpo4	A	G	14: 57,875,665 (GRCm39)		probably benign	Het
Zar1	G	T	5: 72,737,886 (GRCm39)	P71Q	probably damaging	Het
Zbtb41	T	C	1: 139,351,348 (GRCm39)	Y154H	probably benign	Het
Zer1	G	T	2: 29,994,809 (GRCm39)		probably benign	Het
Zfp454	A	G	11: 50,765,012 (GRCm39)	F140S	probably benign	Het

Other mutations in Pramel16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Pramel16	APN	4	143,676,784 (GRCm39)	splice site	probably benign
IGL01562:Pramel16	APN	4	143,677,435 (GRCm39)	missense	probably damaging	1.00
IGL02422:Pramel16	APN	4	143,676,453 (GRCm39)	missense	probably benign	0.25
IGL02632:Pramel16	APN	4	143,676,507 (GRCm39)	missense	possibly damaging	0.84
IGL02745:Pramel16	APN	4	143,677,294 (GRCm39)	missense	probably damaging	1.00
IGL02808:Pramel16	APN	4	143,677,585 (GRCm39)	utr 5 prime	probably benign
IGL02883:Pramel16	APN	4	143,676,418 (GRCm39)	missense	possibly damaging	0.64
IGL02961:Pramel16	APN	4	143,675,717 (GRCm39)	missense	probably damaging	1.00
IGL03092:Pramel16	APN	4	143,676,767 (GRCm39)	missense	probably damaging	0.97
FR4340:Pramel16	UTSW	4	143,676,312 (GRCm39)	missense	probably damaging	0.99
FR4342:Pramel16	UTSW	4	143,676,327 (GRCm39)	frame shift	probably null
FR4342:Pramel16	UTSW	4	143,676,312 (GRCm39)	missense	probably damaging	0.99
R0533:Pramel16	UTSW	4	143,677,290 (GRCm39)	missense	possibly damaging	0.85
R1624:Pramel16	UTSW	4	143,676,400 (GRCm39)	missense	possibly damaging	0.47
R1898:Pramel16	UTSW	4	143,677,298 (GRCm39)	missense	probably damaging	1.00
R2029:Pramel16	UTSW	4	143,676,453 (GRCm39)	missense	probably benign	0.25
R2867:Pramel16	UTSW	4	143,675,456 (GRCm39)	missense	probably benign	0.00
R2867:Pramel16	UTSW	4	143,675,456 (GRCm39)	missense	probably benign	0.00
R2894:Pramel16	UTSW	4	143,675,692 (GRCm39)	missense	probably damaging	1.00
R4111:Pramel16	UTSW	4	143,676,475 (GRCm39)	missense	possibly damaging	0.93
R4298:Pramel16	UTSW	4	143,675,713 (GRCm39)	nonsense	probably null
R4360:Pramel16	UTSW	4	143,677,433 (GRCm39)	missense	possibly damaging	0.81
R4361:Pramel16	UTSW	4	143,677,433 (GRCm39)	missense	possibly damaging	0.81
R5137:Pramel16	UTSW	4	143,675,690 (GRCm39)	missense	probably benign	0.08
R5195:Pramel16	UTSW	4	143,677,450 (GRCm39)	missense	probably damaging	0.99
R5312:Pramel16	UTSW	4	143,675,665 (GRCm39)	missense	possibly damaging	0.96
R5548:Pramel16	UTSW	4	143,676,550 (GRCm39)	missense	probably benign	0.24
R5591:Pramel16	UTSW	4	143,675,377 (GRCm39)	missense	probably damaging	1.00
R5644:Pramel16	UTSW	4	143,675,374 (GRCm39)	missense	probably benign	0.01
R6018:Pramel16	UTSW	4	143,677,469 (GRCm39)	missense	possibly damaging	0.61
R6177:Pramel16	UTSW	4	143,675,576 (GRCm39)	missense	possibly damaging	0.51
R6335:Pramel16	UTSW	4	143,675,602 (GRCm39)	missense	probably benign	0.02
R6376:Pramel16	UTSW	4	143,677,267 (GRCm39)	missense	probably benign	0.03
R6572:Pramel16	UTSW	4	143,676,262 (GRCm39)	missense	probably benign	0.01
R6845:Pramel16	UTSW	4	143,676,394 (GRCm39)	missense	probably benign
R6939:Pramel16	UTSW	4	143,675,366 (GRCm39)	missense	probably benign	0.09
R7081:Pramel16	UTSW	4	143,675,848 (GRCm39)	missense	probably damaging	1.00
R7505:Pramel16	UTSW	4	143,676,273 (GRCm39)	missense	possibly damaging	0.94
R7711:Pramel16	UTSW	4	143,675,822 (GRCm39)	missense	probably benign	0.22
R8284:Pramel16	UTSW	4	143,676,695 (GRCm39)	missense	possibly damaging	0.95
R8297:Pramel16	UTSW	4	143,675,690 (GRCm39)	missense	probably benign	0.08
R8299:Pramel16	UTSW	4	143,677,327 (GRCm39)	missense	probably benign	0.24
R8700:Pramel16	UTSW	4	143,675,701 (GRCm39)	missense	possibly damaging	0.51
R9179:Pramel16	UTSW	4	143,676,294 (GRCm39)	missense	probably benign	0.01
R9199:Pramel16	UTSW	4	143,675,656 (GRCm39)	missense	probably damaging	1.00
R9214:Pramel16	UTSW	4	143,675,750 (GRCm39)	missense	probably benign	0.00
R9411:Pramel16	UTSW	4	143,676,215 (GRCm39)	missense	probably damaging	1.00
RF011:Pramel16	UTSW	4	143,675,478 (GRCm39)	missense	probably damaging	0.96
RF013:Pramel16	UTSW	4	143,675,478 (GRCm39)	missense	probably damaging	0.96
RF021:Pramel16	UTSW	4	143,675,478 (GRCm39)	missense	probably damaging	0.96
Z1176:Pramel16	UTSW	4	143,676,693 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- AGTCAGCCAACTCAAGTCCCATTTC -3'
(R):5'- TGCACTGAGGCGACGTTTAAAGG -3'

Sequencing Primer
(F):5'- CCGAGCAATTCATTTATGTGGC -3'
(R):5'- GCGACGTTTAAAGGTGGTC -3'

Posted On

2013-07-11