Mutagenetix > Incidental Mutation

Incidental Mutation 'R9047:Pramel12'

688102

Institutional Source

Beutler Lab

Gene Symbol

Pramel12

Ensembl Gene

ENSMUSG00000046862

Gene Name

PRAME like 12

Synonyms

Pramef8, 4732496O08Rik

MMRRC Submission

068873-MU

Accession Numbers

Essential gene?

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

Stock #

R9047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143138996-143147661 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 143145673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 381 (Q381K)

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: Q381K

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041323
Gene: ENSMUSG00000046862
AA Change: Q381K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059790
AA Change: Q381K

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058676
Gene: ENSMUSG00000046862
AA Change: Q381K

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: 99.9%
20x: 99.7%

Validation Efficiency

100% (76/76)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	A	3: 145,644,848 (GRCm39)	S156T	probably damaging	Het
4930522L14Rik	A	G	5: 109,885,420 (GRCm39)	L146P		Het
Adra1a	T	A	14: 66,875,634 (GRCm39)	M203K	probably damaging	Het
Adtrp	G	A	13: 41,969,636 (GRCm39)	T89I	possibly damaging	Het
Akt3	G	T	1: 176,886,955 (GRCm39)	T298K	probably damaging	Het
Aldh4a1	G	T	4: 139,350,511 (GRCm39)		probably benign	Het
Aplf	T	C	6: 87,640,779 (GRCm39)	T77A	possibly damaging	Het
Arid4b	T	A	13: 14,355,815 (GRCm39)	W618R	probably damaging	Het
Asxl3	C	A	18: 22,585,465 (GRCm39)	P130Q	probably damaging	Het
Asxl3	A	G	18: 22,585,471 (GRCm39)	K132R	probably damaging	Het
Atp11a	T	C	8: 12,878,483 (GRCm39)	M353T	probably damaging	Het
Atp11b	A	G	3: 35,861,038 (GRCm39)	D375G	probably damaging	Het
Cage1	C	T	13: 38,201,338 (GRCm39)	A656T	possibly damaging	Het
Casz1	C	T	4: 149,023,497 (GRCm39)	P801S	probably damaging	Het
Cdc14b	A	T	13: 64,368,758 (GRCm39)		probably benign	Het
Cdin1	A	G	2: 115,607,504 (GRCm39)	T286A	probably benign	Het
Cox6b2	A	G	7: 4,755,086 (GRCm39)	F63L	probably benign	Het
Cramp1	A	C	17: 25,198,603 (GRCm39)	V773G	possibly damaging	Het
Cul7	A	G	17: 46,965,448 (GRCm39)	E542G	probably benign	Het
Cyp2c55	T	C	19: 39,019,790 (GRCm39)	Y243H	possibly damaging	Het
Dnah9	C	A	11: 65,962,925 (GRCm39)	D1797Y	possibly damaging	Het
Dpep2	C	A	8: 106,715,944 (GRCm39)	A298S		Het
Dvl3	G	A	16: 20,342,826 (GRCm39)		probably null	Het
Dynlt2a3	A	G	17: 15,187,942 (GRCm39)	Y111H	probably damaging	Het
Enpp3	T	C	10: 24,674,172 (GRCm39)	D376G	possibly damaging	Het
Ffar4	T	C	19: 38,102,232 (GRCm39)	I289T	possibly damaging	Het
Gm5565	T	C	5: 146,094,849 (GRCm39)	Y299C	probably damaging	Het
Gm57858	A	G	3: 36,087,033 (GRCm39)	I187T	probably benign	Het
Gpat3	A	T	5: 100,994,788 (GRCm39)	M39L	probably benign	Het
Gpr153	T	C	4: 152,364,664 (GRCm39)	L240P	probably damaging	Het
Gpr182	T	C	10: 127,586,517 (GRCm39)	I145V	probably benign	Het
H2-Q4	A	T	17: 35,598,969 (GRCm39)	T80S	possibly damaging	Het
Hnf1a	T	A	5: 115,088,882 (GRCm39)	T545S	probably benign	Het
Kif5b	A	C	18: 6,208,261 (GRCm39)	F946V	probably benign	Het
Krtap16-1	C	T	11: 99,877,167 (GRCm39)	C79Y	probably damaging	Het
Lama2	A	G	10: 26,882,697 (GRCm39)	V2622A	possibly damaging	Het
Lrrc37a	T	A	11: 103,391,375 (GRCm39)	Q1350L	probably damaging	Het
Map2k2	G	A	10: 80,955,498 (GRCm39)	V294I	probably benign	Het
Meak7	T	C	8: 120,489,050 (GRCm39)	N411S	probably benign	Het
Mtus1	G	A	8: 41,536,760 (GRCm39)	H319Y	possibly damaging	Het
Ncdn	T	C	4: 126,644,621 (GRCm39)	D67G	possibly damaging	Het
Ngef	G	A	1: 87,431,010 (GRCm39)	P269L	probably damaging	Het
Nlrp9b	A	G	7: 19,757,401 (GRCm39)	I213V	possibly damaging	Het
Nyap2	G	A	1: 81,275,803 (GRCm39)	R649H	possibly damaging	Het
Or14a258	A	G	7: 86,035,248 (GRCm39)	S207P	probably benign	Het
Or4a67	C	A	2: 88,598,299 (GRCm39)	R120L	probably damaging	Het
Or5d20-ps1	T	G	2: 87,931,416 (GRCm39)	D305A	unknown	Het
Pi4kb	T	A	3: 94,900,428 (GRCm39)	L354Q	probably damaging	Het
Plekhh2	T	C	17: 84,898,190 (GRCm39)	S944P	probably damaging	Het
Podn	C	T	4: 107,878,743 (GRCm39)	V375M	probably damaging	Het
Psmb2	T	A	4: 126,599,895 (GRCm39)	H110Q	probably benign	Het
Rasip1	A	G	7: 45,282,066 (GRCm39)	E523G	possibly damaging	Het
Ripor1	T	G	8: 106,342,783 (GRCm39)	C219G	probably damaging	Het
Rps6ka2	G	C	17: 7,567,678 (GRCm39)	V714L	probably damaging	Het
Sass6	G	T	3: 116,407,647 (GRCm39)	L254F	probably damaging	Het
Scarf2	G	A	16: 17,624,270 (GRCm39)	G525E	probably damaging	Het
Sh3d21	T	A	4: 126,046,131 (GRCm39)		probably benign	Het
Sh3tc1	C	A	5: 35,863,827 (GRCm39)	A787S	probably benign	Het
Skint5	T	A	4: 113,512,919 (GRCm39)	N871I	unknown	Het
Slc48a1	T	G	15: 97,687,833 (GRCm39)	D62E	probably damaging	Het
Slc6a21	G	A	7: 44,936,398 (GRCm39)	M157I		Het
Slurp2	T	C	15: 74,614,961 (GRCm39)	D60G	probably benign	Het
Sparcl1	G	T	5: 104,240,979 (GRCm39)	N148K	possibly damaging	Het
Spata31e4	C	T	13: 50,856,128 (GRCm39)	R589*	probably null	Het
Spsb2	T	A	6: 124,786,976 (GRCm39)	N236K	probably benign	Het
Sptb	G	T	12: 76,679,308 (GRCm39)		probably benign	Het
Ssc4d	A	T	5: 135,990,030 (GRCm39)	C41S	probably damaging	Het
Tecta	A	T	9: 42,286,375 (GRCm39)	D760E	probably benign	Het
Tesmin	G	T	19: 3,439,431 (GRCm39)		probably benign	Het
Tiam1	A	C	16: 89,601,776 (GRCm39)		probably benign	Het
Tnrc6a	T	C	7: 122,778,946 (GRCm39)	L1219S	probably damaging	Het
Tram1	T	G	1: 13,639,830 (GRCm39)	I306L	probably benign	Het
Trank1	A	C	9: 111,191,500 (GRCm39)	D503A	probably damaging	Het
Ttc21b	T	C	2: 66,031,596 (GRCm39)	H1044R		Het
Ubac2	T	C	14: 122,145,626 (GRCm39)	F95L	probably benign	Het
Vmn2r91	A	T	17: 18,326,296 (GRCm39)	M194L	probably benign	Het
Yju2b	C	T	8: 84,990,527 (GRCm39)	R35Q	probably damaging	Het
Zdhhc1	G	T	8: 106,205,533 (GRCm39)	H90Q	probably damaging	Het
Zfp169	C	T	13: 48,652,292 (GRCm39)	V42I	probably damaging	Het
Zfp81	A	G	17: 33,553,387 (GRCm39)	C476R	probably 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
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
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'- TCACCATGTGCAAGCTTTCAC -3'
(R):5'- ACAAAGTTGGACAAATCTTCCC -3'

Sequencing Primer
(F):5'- GAATTCCTTGTCCCAGAGTCAGAG -3'
(R):5'- GTTGGACAAATCTTCCCATAAGG -3'

Posted On

2021-11-19