Mutagenetix > Incidental Mutation

Incidental Mutation 'R7777:Pramel12'

598944

Institutional Source

Beutler Lab

Gene Symbol

Pramel12

Ensembl Gene

ENSMUSG00000046862

Gene Name

PRAME like 12

Synonyms

Pramef8, 4732496O08Rik

MMRRC Submission

045833-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R7777 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143138996-143147661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143144331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 226 (Y226H)

Ref Sequence

ENSEMBL: ENSMUSP00000041323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037356] [ENSMUST00000059790] [ENSMUST00000132915] [ENSMUST00000155157]

AlphaFold

Q8CE24

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037356
AA Change: Y226H

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041323
Gene: ENSMUSG00000046862
AA Change: Y226H

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	205	410	3e-12	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059790
AA Change: Y226H

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058676
Gene: ENSMUSG00000046862
AA Change: Y226H

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	205	410	3e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000132915

Predicted Effect

probably benign
Transcript: ENSMUST00000155157

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	C	T	12: 113,453,758 (GRCm39)	P192S	possibly damaging	Het
Arhgef10	A	G	8: 14,995,373 (GRCm39)	T353A	probably damaging	Het
Cabyr	A	G	18: 12,877,828 (GRCm39)	D55G	probably damaging	Het
Dcaf4	T	C	12: 83,584,733 (GRCm39)	V322A	probably damaging	Het
Ephb2	T	A	4: 136,498,947 (GRCm39)	E44V	possibly damaging	Het
Fam3c	T	C	6: 22,328,573 (GRCm39)	I105V	probably benign	Het
Fras1	A	G	5: 96,900,763 (GRCm39)	D2994G	probably damaging	Het
Fryl	C	T	5: 73,228,641 (GRCm39)	D1697N	probably damaging	Het
Gapdh	A	T	6: 125,139,911 (GRCm39)	Y164*	probably null	Het
Gm4353	T	G	7: 115,682,998 (GRCm39)	Q194H	possibly damaging	Het
Ilvbl	T	A	10: 78,413,085 (GRCm39)		probably null	Het
Ism2	T	A	12: 87,333,658 (GRCm39)		probably null	Het
Jak2	C	T	19: 29,254,268 (GRCm39)	T196I	probably benign	Het
Lcor	T	G	19: 41,547,234 (GRCm39)	Y273D	probably benign	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Lysmd4	T	A	7: 66,873,446 (GRCm39)	M27K	possibly damaging	Het
Muc17	G	A	5: 137,175,564 (GRCm39)		silent	Het
Or11h4b	A	T	14: 50,918,261 (GRCm39)	Y277N	probably damaging	Het
Or13a25	T	A	7: 140,247,854 (GRCm39)	I211N	probably benign	Het
Or5m10	A	G	2: 85,717,951 (GRCm39)	E269G	possibly damaging	Het
Oscp1	T	C	4: 125,958,774 (GRCm39)		probably null	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Pkd2l2	C	A	18: 34,549,913 (GRCm39)	P186Q	probably damaging	Het
Plcb1	G	A	2: 135,062,677 (GRCm39)	G96R	possibly damaging	Het
Plcd3	G	C	11: 102,965,481 (GRCm39)	R535G	probably benign	Het
Plcg1	A	G	2: 160,596,523 (GRCm39)	M681V	possibly damaging	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Polrmt	A	T	10: 79,575,022 (GRCm39)	D836E	probably benign	Het
Prkag1	A	T	15: 98,712,478 (GRCm39)	I149N	probably damaging	Het
Prkci	A	T	3: 31,104,362 (GRCm39)	Q575L	possibly damaging	Het
Prss40	C	T	1: 34,591,846 (GRCm39)	W276*	probably null	Het
Ptprn	T	C	1: 75,228,946 (GRCm39)	D823G	possibly damaging	Het
Radil	A	C	5: 142,529,303 (GRCm39)	F131C	probably damaging	Het
Rif1	A	G	2: 52,006,368 (GRCm39)	I550V	probably benign	Het
Rmnd1	T	C	10: 4,361,713 (GRCm39)	E320G	probably damaging	Het
Sec31b	T	A	19: 44,512,212 (GRCm39)	K561*	probably null	Het
Spata31g1	C	T	4: 42,970,171 (GRCm39)	Q53*	probably null	Het
Spata31g1	T	C	4: 42,971,095 (GRCm39)	S143P	probably benign	Het
Tbx5	A	C	5: 120,021,232 (GRCm39)	T413P	probably benign	Het
Tmprss7	A	G	16: 45,480,963 (GRCm39)		probably null	Het
Tnfaip8l2	T	C	3: 95,047,307 (GRCm39)	*185W	probably null	Het
Tpst2	A	G	5: 112,457,560 (GRCm39)	E296G	possibly damaging	Het
Ubn2	T	A	6: 38,467,688 (GRCm39)	S801T	probably damaging	Het
Usp34	A	G	11: 23,332,638 (GRCm39)	S1141G		Het
Uts2r	A	G	11: 121,052,279 (GRCm39)	N381S	probably benign	Het
Vmn2r44	G	T	7: 8,381,314 (GRCm39)	T193K	possibly damaging	Het
Wdr18	T	A	10: 79,801,884 (GRCm39)	M223K	probably benign	Het
Wdr64	T	C	1: 175,617,564 (GRCm39)	C715R	possibly damaging	Het
Zfp672	A	G	11: 58,208,081 (GRCm39)	F80S	possibly damaging	Het

Other mutations in Pramel12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Pramel12	APN	4	143,143,237 (GRCm39)	start codon destroyed	probably null	1.00
IGL01483:Pramel12	APN	4	143,144,047 (GRCm39)	missense	probably damaging	0.99
IGL01800:Pramel12	APN	4	143,145,650 (GRCm39)	missense	probably damaging	1.00
IGL02063:Pramel12	APN	4	143,144,421 (GRCm39)	missense	probably benign	0.00
IGL02216:Pramel12	APN	4	143,144,298 (GRCm39)	splice site	probably null
IGL02236:Pramel12	APN	4	143,143,512 (GRCm39)	missense	probably benign	0.07
IGL03013:Pramel12	APN	4	143,144,037 (GRCm39)	missense	possibly damaging	0.64
R0658:Pramel12	UTSW	4	143,144,170 (GRCm39)	missense	probably damaging	1.00
R1485:Pramel12	UTSW	4	143,144,188 (GRCm39)	missense	probably benign	0.01
R2049:Pramel12	UTSW	4	143,143,441 (GRCm39)	missense	probably damaging	1.00
R2518:Pramel12	UTSW	4	143,144,473 (GRCm39)	missense	possibly damaging	0.89
R3720:Pramel12	UTSW	4	143,145,949 (GRCm39)	missense	probably benign	0.10
R3738:Pramel12	UTSW	4	143,143,212 (GRCm39)	utr 5 prime	probably benign
R3961:Pramel12	UTSW	4	143,145,888 (GRCm39)	missense	probably benign	0.00
R4583:Pramel12	UTSW	4	143,143,324 (GRCm39)	missense	probably damaging	1.00
R5135:Pramel12	UTSW	4	143,145,579 (GRCm39)	missense	probably benign	0.01
R5348:Pramel12	UTSW	4	143,143,351 (GRCm39)	missense	probably damaging	1.00
R5473:Pramel12	UTSW	4	143,145,874 (GRCm39)	missense	probably damaging	1.00
R5977:Pramel12	UTSW	4	143,144,229 (GRCm39)	missense	probably benign	0.02
R6909:Pramel12	UTSW	4	143,144,479 (GRCm39)	missense	probably damaging	1.00
R7441:Pramel12	UTSW	4	143,145,410 (GRCm39)	missense	probably benign	0.00
R8053:Pramel12	UTSW	4	143,144,208 (GRCm39)	missense	probably benign	0.01
R8218:Pramel12	UTSW	4	143,145,706 (GRCm39)	missense	probably benign	0.01
R8345:Pramel12	UTSW	4	143,143,438 (GRCm39)	missense	probably benign	0.18
R8963:Pramel12	UTSW	4	143,144,229 (GRCm39)	missense	probably benign	0.02
R9047:Pramel12	UTSW	4	143,145,673 (GRCm39)	missense	possibly damaging	0.93
R9395:Pramel12	UTSW	4	143,145,605 (GRCm39)	missense	probably benign	0.23
R9570:Pramel12	UTSW	4	143,144,514 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGTGCCTCAGGTTCCATTTG -3'
(R):5'- TGCTCACTGGAAAAGTAGATGCC -3'

Sequencing Primer
(F):5'- CAAGCATACTTGTTACAGTGGGCC -3'
(R):5'- CACTGGAAAAGTAGATGCCATTCATG -3'

Posted On

2019-11-26