Mutagenetix > Incidental Mutation

Incidental Mutation 'R4078:Pramel51'

316712

Institutional Source

Beutler Lab

Gene Symbol

Pramel51

Ensembl Gene

ENSMUSG00000066027

Gene Name

PRAME like 51

Synonyms

Gm10436

MMRRC Submission

041623-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R4078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88142359-88148664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88142683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 312 (I312F)

Ref Sequence

ENSEMBL: ENSMUSP00000152292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071580] [ENSMUST00000220521] [ENSMUST00000222081] [ENSMUST00000223172]

AlphaFold

L7N1Y3

Predicted Effect

probably benign
Transcript: ENSMUST00000071580
AA Change: I507F

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000071508
Gene: ENSMUSG00000066027
AA Change: I507F

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	247	445	5e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220521
AA Change: I312F

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000221884

Predicted Effect

probably benign
Transcript: ENSMUST00000222081

Predicted Effect

probably benign
Transcript: ENSMUST00000222391

Predicted Effect

probably benign
Transcript: ENSMUST00000222556

Predicted Effect

probably benign
Transcript: ENSMUST00000223172

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

96% (70/73)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,215,359 (GRCm39)	L367*	probably null	Het
Agfg1	T	A	1: 82,860,008 (GRCm39)	S312T	possibly damaging	Het
Akap8	C	T	17: 32,531,272 (GRCm39)	R380Q	probably damaging	Het
Ambp	T	A	4: 63,068,680 (GRCm39)	K112N	probably damaging	Het
Arl5c	A	T	11: 97,884,327 (GRCm39)	I88N	probably damaging	Het
Asah1	A	G	8: 41,807,119 (GRCm39)	S102P	probably damaging	Het
Atp10b	T	C	11: 43,044,110 (GRCm39)	V112A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cabs1	G	A	5: 88,128,161 (GRCm39)	E271K	probably damaging	Het
Car8	T	C	4: 8,169,731 (GRCm39)	K259R	possibly damaging	Het
Ccdc18	C	T	5: 108,306,394 (GRCm39)	Q270*	probably null	Het
Cdh4	A	G	2: 179,530,966 (GRCm39)	E616G	possibly damaging	Het
Cdk11b	C	T	4: 155,724,204 (GRCm39)		probably benign	Het
Cfap74	A	G	4: 155,540,128 (GRCm39)	D975G	probably damaging	Het
Col27a1	G	T	4: 63,142,669 (GRCm39)	R119L	probably damaging	Het
Col7a1	A	G	9: 108,790,059 (GRCm39)	N918S	unknown	Het
Colec11	T	C	12: 28,645,246 (GRCm39)	N142D	possibly damaging	Het
Cox7a2	G	A	9: 79,665,852 (GRCm39)	Q10*	probably null	Het
Cyp2b23	C	A	7: 26,372,517 (GRCm39)	G366V	probably damaging	Het
Eif1ad3	A	G	12: 87,843,401 (GRCm39)	K16R	unknown	Het
Emsy	G	A	7: 98,239,932 (GRCm39)	P1108S	probably damaging	Het
Etl4	A	T	2: 20,812,772 (GRCm39)	R1442S	probably damaging	Het
Fam151a	G	A	4: 106,604,954 (GRCm39)	G439S	probably benign	Het
Fat1	C	T	8: 45,442,159 (GRCm39)	P1154S	probably damaging	Het
Fat4	G	A	3: 39,034,169 (GRCm39)	S2607N	probably damaging	Het
Fzd7	T	A	1: 59,522,948 (GRCm39)	M277K	possibly damaging	Het
Fzd9	A	G	5: 135,278,490 (GRCm39)	V465A	probably benign	Het
Gm38706	G	T	6: 130,460,700 (GRCm39)		noncoding transcript	Het
Gm9758	T	A	5: 14,961,536 (GRCm39)		probably null	Het
Gpr3	T	C	4: 132,938,226 (GRCm39)	T149A	probably damaging	Het
Heatr9	C	A	11: 83,403,254 (GRCm39)	K428N	probably benign	Het
Hgs	T	A	11: 120,373,874 (GRCm39)	S723T	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Kcnn3	A	G	3: 89,568,495 (GRCm39)	K591R	possibly damaging	Het
Khdrbs2	T	C	1: 32,558,895 (GRCm39)		probably benign	Het
Lpp	G	A	16: 24,500,611 (GRCm39)	R141H	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Macf1	T	A	4: 123,365,884 (GRCm39)	Q2959L	probably benign	Het
Mipep	T	A	14: 61,083,926 (GRCm39)	Y606N	probably damaging	Het
Mroh5	C	A	15: 73,657,889 (GRCm39)	C547F	possibly damaging	Het
Nek3	A	T	8: 22,622,153 (GRCm39)	W363R	probably damaging	Het
Nphs1	T	A	7: 30,166,945 (GRCm39)	Y717*	probably null	Het
Obscn	A	G	11: 58,929,189 (GRCm39)	V6145A	probably benign	Het
Optc	T	C	1: 133,826,087 (GRCm39)	H270R	probably damaging	Het
Or1l4	T	A	2: 37,092,024 (GRCm39)	I257N	possibly damaging	Het
Or2l5	T	A	16: 19,333,982 (GRCm39)	M135L	possibly damaging	Het
Or5p80	T	A	7: 108,230,114 (GRCm39)	M305K	probably benign	Het
Or9r7	G	A	10: 129,962,587 (GRCm39)	T113I	probably damaging	Het
Pik3c2g	A	G	6: 139,612,608 (GRCm39)		probably benign	Het
Pms1	A	T	1: 53,306,948 (GRCm39)		probably null	Het
Prkg1	T	C	19: 31,562,978 (GRCm39)	Y156C	probably damaging	Het
Prol1	A	G	5: 88,476,075 (GRCm39)	N155S	unknown	Het
Rapgefl1	A	G	11: 98,740,803 (GRCm39)	T552A	probably benign	Het
Slc22a28	T	A	19: 8,078,777 (GRCm39)	H304L	probably benign	Het
Stox1	C	T	10: 62,501,810 (GRCm39)	C250Y	probably benign	Het
Sult2a3	A	G	7: 13,855,662 (GRCm39)	W65R	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Syne2	C	A	12: 76,082,398 (GRCm39)	T4857K	probably damaging	Het
Tcp1	T	C	17: 13,136,970 (GRCm39)	L64S	probably benign	Het
Thap11	G	T	8: 106,582,548 (GRCm39)	E186*	probably null	Het
Tmem67	A	G	4: 12,040,633 (GRCm39)		probably null	Het
Trappc10	T	C	10: 78,046,216 (GRCm39)	Y458C	probably damaging	Het
Ufd1	A	G	16: 18,644,528 (GRCm39)	Y197C	possibly damaging	Het
Ung	G	T	5: 114,268,684 (GRCm39)		probably null	Het
Usp49	A	G	17: 47,985,674 (GRCm39)	T245A	probably damaging	Het
Washc1	A	T	17: 66,424,156 (GRCm39)	E289D	probably benign	Het
Zc3h7a	A	T	16: 10,969,011 (GRCm39)	V450E	probably benign	Het
Zcchc17	T	G	4: 130,223,418 (GRCm39)	I123L	possibly damaging	Het
Zfp955a	A	G	17: 33,460,675 (GRCm39)	Y486H	probably benign	Het

Other mutations in Pramel51

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Pramel51	APN	12	88,143,882 (GRCm39)	missense	probably benign	0.35
IGL01391:Pramel51	APN	12	88,145,225 (GRCm39)	missense	possibly damaging	0.84
IGL01432:Pramel51	APN	12	88,143,202 (GRCm39)	missense	probably benign	0.44
IGL01519:Pramel51	APN	12	88,144,331 (GRCm39)	missense	probably benign	0.00
IGL01784:Pramel51	APN	12	88,143,085 (GRCm39)	missense	probably benign
IGL02121:Pramel51	APN	12	88,145,242 (GRCm39)	missense	possibly damaging	0.83
IGL02728:Pramel51	APN	12	88,142,792 (GRCm39)	missense	probably benign	0.17
R0336:Pramel51	UTSW	12	88,144,961 (GRCm39)	missense	probably benign	0.20
R0554:Pramel51	UTSW	12	88,144,328 (GRCm39)	missense	probably benign	0.10
R1279:Pramel51	UTSW	12	88,142,650 (GRCm39)	missense	probably benign	0.42
R1832:Pramel51	UTSW	12	88,145,218 (GRCm39)	missense	possibly damaging	0.73
R1833:Pramel51	UTSW	12	88,145,218 (GRCm39)	missense	possibly damaging	0.73
R1900:Pramel51	UTSW	12	88,144,030 (GRCm39)	missense	probably benign	0.02
R2412:Pramel51	UTSW	12	88,143,880 (GRCm39)	missense	probably damaging	0.98
R3040:Pramel51	UTSW	12	88,145,118 (GRCm39)	missense	probably benign	0.00
R3625:Pramel51	UTSW	12	88,142,731 (GRCm39)	missense	probably benign	0.06
R4270:Pramel51	UTSW	12	88,145,053 (GRCm39)	missense	probably damaging	1.00
R4271:Pramel51	UTSW	12	88,145,053 (GRCm39)	missense	probably damaging	1.00
R5318:Pramel51	UTSW	12	88,142,998 (GRCm39)	missense	probably benign	0.01
R5552:Pramel51	UTSW	12	88,145,135 (GRCm39)	missense	probably benign	0.03
R5601:Pramel51	UTSW	12	88,142,817 (GRCm39)	missense	probably damaging	1.00
R5881:Pramel51	UTSW	12	88,143,111 (GRCm39)	missense	probably damaging	1.00
R5973:Pramel51	UTSW	12	88,142,683 (GRCm39)	missense	probably benign	0.02
R6058:Pramel51	UTSW	12	88,143,995 (GRCm39)	missense	possibly damaging	0.91
R6488:Pramel51	UTSW	12	88,144,357 (GRCm39)	missense	possibly damaging	0.87
R6656:Pramel51	UTSW	12	88,142,763 (GRCm39)	missense	possibly damaging	0.89
R7307:Pramel51	UTSW	12	88,148,519 (GRCm39)	missense	probably damaging	1.00
R7332:Pramel51	UTSW	12	88,143,187 (GRCm39)	missense	possibly damaging	0.72
R7544:Pramel51	UTSW	12	88,142,850 (GRCm39)	missense	probably benign	0.00
R7569:Pramel51	UTSW	12	88,143,085 (GRCm39)	missense	probably benign
R7645:Pramel51	UTSW	12	88,143,028 (GRCm39)	missense	probably damaging	1.00
R7752:Pramel51	UTSW	12	88,142,769 (GRCm39)	missense	probably damaging	1.00
R7855:Pramel51	UTSW	12	88,142,853 (GRCm39)	missense	probably benign	0.03
R7860:Pramel51	UTSW	12	88,143,122 (GRCm39)	missense	possibly damaging	0.89
R8113:Pramel51	UTSW	12	88,143,850 (GRCm39)	missense	probably benign	0.00
R8356:Pramel51	UTSW	12	88,143,986 (GRCm39)	missense	probably benign	0.01
R8456:Pramel51	UTSW	12	88,143,986 (GRCm39)	missense	probably benign	0.01
R8921:Pramel51	UTSW	12	88,143,952 (GRCm39)	missense	probably benign	0.10
R8953:Pramel51	UTSW	12	88,144,070 (GRCm39)	missense	probably benign	0.17
R9112:Pramel51	UTSW	12	88,144,055 (GRCm39)	missense	possibly damaging	0.64
R9546:Pramel51	UTSW	12	88,148,651 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGCTTGATTCTTTCTACAGATGC -3'
(R):5'- CTATGAGTGTTACCCTGCCC -3'

Sequencing Primer
(F):5'- TCACCAGCTCAGAGGAAGTTATTGAC -3'
(R):5'- GCCCCTATAGAGTGCTATGATGAC -3'

Posted On

2015-05-15