Mutagenetix > Incidental Mutation

Incidental Mutation 'R9570:Pramel12'

721893

Institutional Source

Beutler Lab

Gene Symbol

Pramel12

Ensembl Gene

ENSMUSG00000046862

Gene Name

PRAME like 12

Synonyms

Pramef8, 4732496O08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R9570 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143138996-143147661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143144514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 287 (M287L)

Ref Sequence

ENSEMBL: ENSMUSP00000041323 (fasta)

Gene Model

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

AlphaFold

Q8CE24

Predicted Effect

probably benign
Transcript: ENSMUST00000037356
AA Change: M287L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000041323
Gene: ENSMUSG00000046862
AA Change: M287L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000059790
AA Change: M287L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000058676
Gene: ENSMUSG00000046862
AA Change: M287L

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	C	T	8: 41,277,687 (GRCm39)	T26I	probably benign	Het
Adgrg7	A	G	16: 56,570,813 (GRCm39)	L405P	probably damaging	Het
Ankle1	A	G	8: 71,859,424 (GRCm39)	D106G	probably damaging	Het
Ankrd17	G	T	5: 90,401,536 (GRCm39)	D1609E		Het
Anpep	A	G	7: 79,476,661 (GRCm39)	V772A	probably benign	Het
Anxa8	T	C	14: 33,814,509 (GRCm39)	V115A	possibly damaging	Het
Aoc1	T	C	6: 48,882,772 (GRCm39)	F216S	probably damaging	Het
Aplf	T	A	6: 87,640,781 (GRCm39)	E76V	possibly damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Arhgap42	T	A	9: 9,148,209 (GRCm39)	Y120F		Het
Atg2a	T	A	19: 6,305,749 (GRCm39)	H1316Q	probably benign	Het
Atp8b3	A	G	10: 80,361,822 (GRCm39)	F743S	probably benign	Het
Best1	A	T	19: 9,970,331 (GRCm39)	W94R	probably damaging	Het
Catsper3	T	C	13: 55,953,669 (GRCm39)		probably null	Het
Ccdc80	A	T	16: 44,915,449 (GRCm39)	E68D	probably benign	Het
Col8a1	T	A	16: 57,448,539 (GRCm39)	I324F	unknown	Het
Coro1c	G	A	5: 114,003,816 (GRCm39)	R68*	probably null	Het
Dennd4c	A	G	4: 86,747,208 (GRCm39)	D1464G	possibly damaging	Het
Dgat2	C	T	7: 98,818,926 (GRCm39)	V77I	possibly damaging	Het
Ecpas	G	A	4: 58,832,796 (GRCm39)	R855*	probably null	Het
Ednra	A	C	8: 78,393,961 (GRCm39)	N378K	possibly damaging	Het
Eif1ad4	A	G	12: 87,862,534 (GRCm39)	D132G	unknown	Het
Eml5	A	T	12: 98,782,243 (GRCm39)	D178E	probably benign	Het
Ethe1	G	T	7: 24,293,236 (GRCm39)		probably benign	Het
Fgf21	C	T	7: 45,264,594 (GRCm39)	R46Q	probably damaging	Het
Flt3	C	T	5: 147,309,424 (GRCm39)	V198M	possibly damaging	Het
Fryl	T	C	5: 73,179,498 (GRCm39)	N2970D	probably benign	Het
Gtf2e2	T	A	8: 34,252,076 (GRCm39)	D197E	probably damaging	Het
Gtf2i	G	A	5: 134,294,627 (GRCm39)	R362W	probably damaging	Het
Gtpbp10	C	T	5: 5,596,382 (GRCm39)	G188R	probably damaging	Het
Gzmc	A	C	14: 56,469,042 (GRCm39)	S226A	probably benign	Het
Hhatl	A	T	9: 121,613,282 (GRCm39)	V471D	possibly damaging	Het
Hoxd11	T	C	2: 74,512,812 (GRCm39)	S26P	possibly damaging	Het
Ighv1-85	A	T	12: 115,963,794 (GRCm39)	W69R	probably benign	Het
Kcnk3	T	C	5: 30,779,433 (GRCm39)	L161P	possibly damaging	Het
Klk6	A	G	7: 43,477,967 (GRCm39)	D113G	probably damaging	Het
Map3k5	A	G	10: 19,876,314 (GRCm39)	I158V	probably benign	Het
Marchf8	T	A	6: 116,382,639 (GRCm39)	M434K	probably benign	Het
Mcc	T	C	18: 44,578,925 (GRCm39)	R828G	probably damaging	Het
Muc4	A	T	16: 32,569,695 (GRCm39)	T252S	possibly damaging	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Nme7	A	G	1: 164,206,961 (GRCm39)	D282G	probably benign	Het
Npdc1	G	T	2: 25,298,312 (GRCm39)	A228S	probably benign	Het
Nrbp1	T	A	5: 31,401,272 (GRCm39)	S49R	probably damaging	Het
Ntan1	T	C	16: 13,637,248 (GRCm39)	V10A	possibly damaging	Het
Or10a3	A	G	7: 108,480,504 (GRCm39)	V103A	possibly damaging	Het
Or10b1	T	C	10: 78,356,084 (GRCm39)	V214A	probably benign	Het
Or51b4	A	G	7: 103,530,856 (GRCm39)	V198A	probably benign	Het
Pdcd2l	T	C	7: 33,892,401 (GRCm39)	D156G	probably benign	Het
Pde11a	A	G	2: 75,877,157 (GRCm39)	S771P	probably damaging	Het
Pilra	T	A	5: 137,834,342 (GRCm39)	M14L	probably benign	Het
Pkd1l1	T	A	11: 8,840,697 (GRCm39)	E1237V		Het
Pkp2	A	T	16: 16,078,278 (GRCm39)	T507S	possibly damaging	Het
Polm	A	G	11: 5,779,713 (GRCm39)	Y362H	probably damaging	Het
Prcd	C	T	11: 116,550,583 (GRCm39)	S85F	possibly damaging	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Ptger1	T	C	8: 84,395,461 (GRCm39)	W313R	probably damaging	Het
Ptpn23	T	C	9: 110,227,217 (GRCm39)	E44G	probably damaging	Het
Rai1	A	G	11: 60,076,568 (GRCm39)	T211A	probably benign	Het
Rgl1	C	A	1: 152,430,082 (GRCm39)	D234Y	possibly damaging	Het
Rlf	A	G	4: 121,007,087 (GRCm39)	V741A	possibly damaging	Het
Rnaseh2b	T	C	14: 62,597,978 (GRCm39)		probably null	Het
Selenon	C	T	4: 134,270,055 (GRCm39)	R383H	probably benign	Het
Sh3rf2	A	T	18: 42,272,620 (GRCm39)	H368L	possibly damaging	Het
Slc9c1	A	T	16: 45,380,705 (GRCm39)	I544L	probably benign	Het
Smarca4	A	G	9: 21,580,849 (GRCm39)	E993G	probably damaging	Het
Stab1	T	A	14: 30,864,638 (GRCm39)	I1966F	probably benign	Het
Stard9	G	A	2: 120,534,714 (GRCm39)	S3657N	probably benign	Het
Tex15	G	A	8: 34,067,309 (GRCm39)	M2246I	probably damaging	Het
Ttc41	A	T	10: 86,549,598 (GRCm39)	N264I	possibly damaging	Het
Use1	T	A	8: 71,820,473 (GRCm39)	M96K	possibly damaging	Het
Vmn1r201	T	C	13: 22,659,236 (GRCm39)	I150T	probably damaging	Het
Vmn1r34	T	C	6: 66,614,718 (GRCm39)	I7V	probably benign	Het
Vps8	T	A	16: 21,462,953 (GRCm39)	F1406Y	probably benign	Het
Zfp788	A	T	7: 41,300,006 (GRCm39)	T881S	possibly damaging	Het
Zfp804a	C	T	2: 82,088,844 (GRCm39)	T891I	probably benign	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
R7777:Pramel12	UTSW	4	143,144,331 (GRCm39)	missense	possibly damaging	0.88
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

Predicted Primers

PCR Primer
(F):5'- TTACCTGGACCAGATGAGAAACC -3'
(R):5'- CCTCTGCTTAATGAGTGGTCATG -3'

Sequencing Primer
(F):5'- CTTCAAAAACTCCTTTTAACACGG -3'
(R):5'- TGGAACAAACTGAGCTCTCAATTCAG -3'

Posted On

2022-08-09