Mutagenetix > Incidental Mutation

Incidental Mutation 'R5591:Pramel28'

437516

Institutional Source

Beutler Lab

Gene Symbol

Pramel28

Ensembl Gene

ENSMUSG00000078510

Gene Name

PRAME like 28

Synonyms

Gm13101

MMRRC Submission

043269-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143691088-143693520 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 143691530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 398 (L398I)

Ref Sequence

ENSEMBL: ENSMUSP00000101389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105763]

AlphaFold

A2ASJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000105763
AA Change: L398I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101389
Gene: ENSMUSG00000078510
AA Change: L398I

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	210	414	2e-9	SMART

Meta Mutation Damage Score

0.3573

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

97% (56/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh16a1	T	C	7: 44,794,076 (GRCm39)	E13G	probably null	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Bub1	A	T	2: 127,661,263 (GRCm39)	M276K	probably benign	Het
Casp14	A	T	10: 78,550,179 (GRCm39)	D156E	unknown	Het
Ccdc82	T	A	9: 13,272,822 (GRCm39)		probably null	Het
Cdc42bpb	T	C	12: 111,289,521 (GRCm39)	N436S	probably benign	Het
Cyp2j12	A	G	4: 96,029,359 (GRCm39)		probably benign	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Daxx	T	C	17: 34,130,662 (GRCm39)	S226P	probably damaging	Het
Gm3676	T	C	14: 41,365,181 (GRCm39)	Y158C	probably benign	Het
Gnai1	A	T	5: 18,476,844 (GRCm39)	I285K	probably benign	Het
Gpr179	C	T	11: 97,236,581 (GRCm39)	V417I	probably benign	Het
Helz2	C	T	2: 180,882,051 (GRCm39)	M247I	probably damaging	Het
Hmcn2	C	T	2: 31,234,059 (GRCm39)	L275F	probably damaging	Het
Ifi27l2b	A	G	12: 103,417,566 (GRCm39)	V207A	probably damaging	Het
Isg20l2	C	T	3: 87,837,731 (GRCm39)		probably benign	Het
Itga6	A	G	2: 71,670,934 (GRCm39)	D221G	probably damaging	Het
Lca5l	T	C	16: 95,979,929 (GRCm39)	Y67C	probably damaging	Het
Loxl3	T	A	6: 83,025,018 (GRCm39)	C249S	probably damaging	Het
Luc7l3	T	C	11: 94,184,060 (GRCm39)		probably benign	Het
Lyst	T	G	13: 13,917,918 (GRCm39)	I3326S	probably damaging	Het
Mbd5	A	C	2: 49,164,681 (GRCm39)	Q958H	probably damaging	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrm3	G	A	11: 76,140,907 (GRCm39)	R305H	probably benign	Het
Mtrex	A	T	13: 113,063,890 (GRCm39)	M1K	probably null	Het
Or10ak7	A	T	4: 118,791,658 (GRCm39)	I127K	probably damaging	Het
Or1j18	A	T	2: 36,625,244 (GRCm39)	I304F	probably benign	Het
Or2aj5	T	A	16: 19,424,608 (GRCm39)	Q270L	probably damaging	Het
Or2ak7	A	G	11: 58,574,951 (GRCm39)	N84S	probably benign	Het
Or2d3c	A	T	7: 106,526,489 (GRCm39)	M59K	probably damaging	Het
Or4c126	A	G	2: 89,823,751 (GRCm39)	T5A	possibly damaging	Het
Or51q1	G	T	7: 103,629,320 (GRCm39)	R307L	probably benign	Het
P3h3	C	T	6: 124,831,658 (GRCm39)		probably benign	Het
Pals2	A	G	6: 50,157,159 (GRCm39)	S276G	probably benign	Het
Plekhg3	C	T	12: 76,607,066 (GRCm39)	S42L	possibly damaging	Het
Polq	A	G	16: 36,832,247 (GRCm39)		probably benign	Het
Pramel16	T	C	4: 143,675,377 (GRCm39)	Y483C	probably damaging	Het
Raph1	G	A	1: 60,540,905 (GRCm39)		probably benign	Het
Rnf144b	G	A	13: 47,396,430 (GRCm39)		probably null	Het
Ryr2	A	G	13: 11,609,900 (GRCm39)	S4309P	probably benign	Het
Sash1	A	T	10: 8,601,482 (GRCm39)	S1158T	probably benign	Het
Sim2	T	C	16: 93,898,048 (GRCm39)	V94A	probably damaging	Het
Sirt5	A	G	13: 43,525,317 (GRCm39)	D42G	possibly damaging	Het
Smarcal1	A	T	1: 72,630,412 (GRCm39)	K155N	probably damaging	Het
Spam1	A	G	6: 24,800,545 (GRCm39)	Y428C	probably damaging	Het
Spef2	T	C	15: 9,583,922 (GRCm39)	N1655S	probably benign	Het
Sympk	A	G	7: 18,787,964 (GRCm39)	E1160G	probably damaging	Het
Tmem192	A	G	8: 65,418,254 (GRCm39)	Y168C	possibly damaging	Het
Ttn	T	A	2: 76,540,012 (GRCm39)	M25998L	probably benign	Het
Usp48	A	G	4: 137,379,963 (GRCm39)		probably benign	Het
Vamp4	A	G	1: 162,415,811 (GRCm39)	I71V	possibly damaging	Het
Washc5	C	A	15: 59,241,012 (GRCm39)	D108Y	probably damaging	Het
Wdfy4	T	A	14: 32,829,087 (GRCm39)	H1043L	probably benign	Het
Zcchc14	C	T	8: 122,332,187 (GRCm39)		probably benign	Het
Zfp407	A	G	18: 84,579,262 (GRCm39)	F617S	probably damaging	Het
Zfp869	T	A	8: 70,160,342 (GRCm39)	N77I	probably benign	Het

Other mutations in Pramel28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Pramel28	APN	4	143,693,184 (GRCm39)	splice site	probably benign
IGL00688:Pramel28	APN	4	143,692,392 (GRCm39)	missense	possibly damaging	0.62
IGL00690:Pramel28	APN	4	143,692,392 (GRCm39)	missense	possibly damaging	0.62
IGL00693:Pramel28	APN	4	143,692,392 (GRCm39)	missense	possibly damaging	0.62
IGL00694:Pramel28	APN	4	143,692,392 (GRCm39)	missense	possibly damaging	0.62
IGL01412:Pramel28	APN	4	143,691,565 (GRCm39)	missense	probably damaging	1.00
IGL01781:Pramel28	APN	4	143,692,299 (GRCm39)	missense	probably benign
IGL02426:Pramel28	APN	4	143,693,229 (GRCm39)	missense	possibly damaging	0.75
IGL02508:Pramel28	APN	4	143,691,590 (GRCm39)	missense	probably benign	0.13
IGL03338:Pramel28	APN	4	143,692,608 (GRCm39)	missense	probably benign	0.03
IGL03338:Pramel28	APN	4	143,692,411 (GRCm39)	missense	probably benign	0.01
R0201:Pramel28	UTSW	4	143,691,460 (GRCm39)	missense	probably damaging	1.00
R0325:Pramel28	UTSW	4	143,693,310 (GRCm39)	missense	probably damaging	1.00
R0538:Pramel28	UTSW	4	143,691,653 (GRCm39)	missense	possibly damaging	0.76
R1471:Pramel28	UTSW	4	143,691,523 (GRCm39)	missense	probably benign	0.25
R1544:Pramel28	UTSW	4	143,692,632 (GRCm39)	missense	probably benign	0.00
R1891:Pramel28	UTSW	4	143,693,235 (GRCm39)	missense	probably damaging	1.00
R2012:Pramel28	UTSW	4	143,692,637 (GRCm39)	missense	probably benign	0.00
R2105:Pramel28	UTSW	4	143,692,390 (GRCm39)	missense	probably benign
R2939:Pramel28	UTSW	4	143,693,247 (GRCm39)	missense	probably benign	0.00
R2940:Pramel28	UTSW	4	143,693,247 (GRCm39)	missense	probably benign	0.00
R3723:Pramel28	UTSW	4	143,693,251 (GRCm39)	missense	probably benign
R3952:Pramel28	UTSW	4	143,692,356 (GRCm39)	nonsense	probably null
R4028:Pramel28	UTSW	4	143,692,354 (GRCm39)	missense	probably benign	0.02
R4029:Pramel28	UTSW	4	143,692,354 (GRCm39)	missense	probably benign	0.02
R4030:Pramel28	UTSW	4	143,692,354 (GRCm39)	missense	probably benign	0.02
R5059:Pramel28	UTSW	4	143,691,565 (GRCm39)	missense	probably damaging	0.99
R5222:Pramel28	UTSW	4	143,691,362 (GRCm39)	missense	possibly damaging	0.55
R5677:Pramel28	UTSW	4	143,691,708 (GRCm39)	missense	possibly damaging	0.59
R6021:Pramel28	UTSW	4	143,692,336 (GRCm39)	missense	probably benign
R6042:Pramel28	UTSW	4	143,692,631 (GRCm39)	missense	probably benign	0.04
R6155:Pramel28	UTSW	4	143,691,712 (GRCm39)	missense	probably benign	0.00
R6604:Pramel28	UTSW	4	143,692,567 (GRCm39)	missense	probably benign	0.02
R6807:Pramel28	UTSW	4	143,691,581 (GRCm39)	missense	probably damaging	1.00
R7244:Pramel28	UTSW	4	143,692,455 (GRCm39)	missense	probably benign
R7505:Pramel28	UTSW	4	143,691,556 (GRCm39)	missense	probably benign	0.00
R7526:Pramel28	UTSW	4	143,692,387 (GRCm39)	missense	probably benign	0.00
R8121:Pramel28	UTSW	4	143,691,611 (GRCm39)	missense	probably benign	0.01
R8408:Pramel28	UTSW	4	143,692,212 (GRCm39)	missense	probably benign
R8890:Pramel28	UTSW	4	143,691,494 (GRCm39)	missense	probably benign	0.10
R8989:Pramel28	UTSW	4	143,691,770 (GRCm39)	missense	probably benign	0.04
R9054:Pramel28	UTSW	4	143,692,314 (GRCm39)	missense	probably benign	0.18
R9622:Pramel28	UTSW	4	143,692,348 (GRCm39)	missense	probably benign	0.00
Z1088:Pramel28	UTSW	4	143,692,132 (GRCm39)	missense	probably benign
Z1177:Pramel28	UTSW	4	143,692,345 (GRCm39)	missense	probably benign	0.02
Z1177:Pramel28	UTSW	4	143,692,161 (GRCm39)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- ATAGAGTGGGGCTGCCTAAC -3'
(R):5'- GTGTCAGAGTCTCCATCATCTC -3'

Sequencing Primer
(F):5'- CTGCCTAACAGTGCAAAGTGTGTTC -3'
(R):5'- ATCTCAAACACCTGCATTTGG -3'

Posted On

2016-10-26