Mutagenetix > Incidental Mutation

Incidental Mutation 'R6898:Pramel7'

538438

Institutional Source

Beutler Lab

Gene Symbol

Pramel7

Ensembl Gene

ENSMUSG00000025839

Gene Name

PRAME like 7

Synonyms

MMRRC Submission

044992-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R6898 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87319432-87322762 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87320070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 408 (T408A)

Ref Sequence

ENSEMBL: ENSMUSP00000026957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026957]

AlphaFold

Q810Y8

Predicted Effect

probably damaging
Transcript: ENSMUST00000026957
AA Change: T408A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026957
Gene: ENSMUSG00000025839
AA Change: T408A

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	207	407	3e-14	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.5%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd7	G	T	6: 18,868,100 (GRCm39)		probably null	Het
Aoc1l2	A	T	6: 48,907,975 (GRCm39)	Y325F	probably damaging	Het
Aplnr	A	T	2: 84,970,155 (GRCm39)		probably benign	Het
Capns2	T	C	8: 93,628,605 (GRCm39)	S165P	probably damaging	Het
Col25a1	T	C	3: 130,378,377 (GRCm39)		probably null	Het
Crocc2	T	C	1: 93,143,304 (GRCm39)	V1302A	probably benign	Het
Cul9	C	A	17: 46,821,952 (GRCm39)	R1841M	possibly damaging	Het
Dnhd1	T	C	7: 105,336,584 (GRCm39)	L1213P	probably damaging	Het
Dscam	A	T	16: 96,631,100 (GRCm39)	I305K	probably benign	Het
Dsp	A	G	13: 38,376,193 (GRCm39)	E1326G	possibly damaging	Het
Eif4a3l1	T	A	6: 136,305,617 (GRCm39)	V26E	probably benign	Het
Emc9	A	G	14: 55,822,367 (GRCm39)		probably null	Het
Eppk1	A	C	15: 75,996,126 (GRCm39)	S252A	probably benign	Het
Fn1	T	A	1: 71,639,572 (GRCm39)	T1830S	probably damaging	Het
Fryl	A	T	5: 73,179,485 (GRCm39)	M2974K	probably damaging	Het
Gdpd3	C	A	7: 126,370,201 (GRCm39)	S250*	probably null	Het
Gnl3	A	T	14: 30,735,136 (GRCm39)	S485R	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Hsd17b3	T	C	13: 64,207,339 (GRCm39)	Y234C	probably benign	Het
Lima1	T	C	15: 99,679,148 (GRCm39)	H271R	possibly damaging	Het
Nfu1	G	A	6: 86,994,034 (GRCm39)		probably null	Het
Noto	A	G	6: 85,404,942 (GRCm39)	E97G	probably damaging	Het
Ntng1	T	C	3: 109,779,534 (GRCm39)	K348E	probably damaging	Het
Or2y13	G	A	11: 49,414,536 (GRCm39)		probably benign	Het
Or4a70	C	T	2: 89,324,594 (GRCm39)	G21R	possibly damaging	Het
Osmr	C	A	15: 6,845,364 (GRCm39)	V801F	probably damaging	Het
Papln	A	G	12: 83,824,234 (GRCm39)	E554G	probably benign	Het
Pitrm1	T	C	13: 6,605,495 (GRCm39)	L175P	probably damaging	Het
Pramel22	A	T	4: 143,382,053 (GRCm39)	N214K	probably damaging	Het
Serinc2	A	T	4: 130,149,235 (GRCm39)	D322E	probably benign	Het
Setx	T	C	2: 29,038,120 (GRCm39)	V1535A	probably benign	Het
Sgce	A	T	6: 4,689,666 (GRCm39)	V389E	probably damaging	Het
Snx11	G	A	11: 96,659,888 (GRCm39)	T267I	probably benign	Het
Spata6l	T	G	19: 28,921,688 (GRCm39)	Q146P	probably benign	Het
Specc1	G	A	11: 62,009,162 (GRCm39)	S306N	probably benign	Het
Spocd1	A	G	4: 129,850,305 (GRCm39)		probably benign	Het
St7	T	A	6: 17,854,945 (GRCm39)	V294D	probably damaging	Het
Stab1	C	T	14: 30,880,920 (GRCm39)	R624Q	probably benign	Het
Tcf21	T	C	10: 22,695,403 (GRCm39)	I134V	probably benign	Het
Tgfb2	T	A	1: 186,364,697 (GRCm39)	I266F	probably damaging	Het
Tgfbr3l	A	G	8: 4,300,365 (GRCm39)	I209M	possibly damaging	Het
Tmcc3	A	G	10: 94,387,034 (GRCm39)		probably null	Het
Toe1	A	G	4: 116,664,671 (GRCm39)	S16P	probably damaging	Het
Vps16	T	C	2: 130,279,601 (GRCm39)	V38A	possibly damaging	Het
Wnk2	G	T	13: 49,224,557 (GRCm39)	D1001E	probably damaging	Het

Other mutations in Pramel7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Pramel7	APN	2	87,321,429 (GRCm39)	missense	probably damaging	1.00
IGL01302:Pramel7	APN	2	87,321,717 (GRCm39)	missense	possibly damaging	0.58
IGL01365:Pramel7	APN	2	87,321,757 (GRCm39)	splice site	probably benign
IGL01728:Pramel7	APN	2	87,321,674 (GRCm39)	missense	possibly damaging	0.95
IGL01769:Pramel7	APN	2	87,319,932 (GRCm39)	missense	probably benign	0.09
IGL01932:Pramel7	APN	2	87,321,457 (GRCm39)	missense	possibly damaging	0.80
IGL02971:Pramel7	APN	2	87,320,417 (GRCm39)	missense	probably benign	0.03
IGL03376:Pramel7	APN	2	87,319,947 (GRCm39)	missense	probably damaging	1.00
IGL03380:Pramel7	APN	2	87,321,716 (GRCm39)	missense	probably benign	0.38
R0625:Pramel7	UTSW	2	87,321,352 (GRCm39)	missense	probably benign	0.02
R1077:Pramel7	UTSW	2	87,321,534 (GRCm39)	missense	probably damaging	1.00
R1455:Pramel7	UTSW	2	87,320,067 (GRCm39)	missense	probably benign	0.00
R1666:Pramel7	UTSW	2	87,322,747 (GRCm39)	missense	probably damaging	0.99
R1863:Pramel7	UTSW	2	87,321,675 (GRCm39)	missense	probably benign	0.35
R1977:Pramel7	UTSW	2	87,321,465 (GRCm39)	missense	probably benign	0.01
R2141:Pramel7	UTSW	2	87,320,321 (GRCm39)	missense	probably damaging	1.00
R3027:Pramel7	UTSW	2	87,321,747 (GRCm39)	missense	probably benign	0.01
R4374:Pramel7	UTSW	2	87,320,415 (GRCm39)	missense	probably benign	0.05
R4735:Pramel7	UTSW	2	87,321,187 (GRCm39)	nonsense	probably null
R5232:Pramel7	UTSW	2	87,320,320 (GRCm39)	missense	probably damaging	0.97
R6255:Pramel7	UTSW	2	87,320,007 (GRCm39)	missense	probably benign	0.00
R6611:Pramel7	UTSW	2	87,320,393 (GRCm39)	missense	probably damaging	1.00
R7246:Pramel7	UTSW	2	87,322,509 (GRCm39)	missense	probably damaging	1.00
R7293:Pramel7	UTSW	2	87,322,706 (GRCm39)	missense	probably benign	0.28
R7408:Pramel7	UTSW	2	87,321,189 (GRCm39)	missense	possibly damaging	0.89
R7431:Pramel7	UTSW	2	87,320,282 (GRCm39)	missense	possibly damaging	0.65
R7469:Pramel7	UTSW	2	87,321,748 (GRCm39)	missense	probably benign	0.01
R8300:Pramel7	UTSW	2	87,319,967 (GRCm39)	missense	probably benign	0.01
R8803:Pramel7	UTSW	2	87,320,405 (GRCm39)	missense	probably benign	0.00
R8940:Pramel7	UTSW	2	87,321,612 (GRCm39)	missense	probably benign	0.03
R9281:Pramel7	UTSW	2	87,321,495 (GRCm39)	missense	probably damaging	1.00
R9723:Pramel7	UTSW	2	87,320,019 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TGTTGTTACTCCTGGCACAAAC -3'
(R):5'- CTAACCTGCAGACTCTGGAC -3'

Sequencing Primer
(F):5'- TGTTACTCCTGGCACAAACAAAGTG -3'
(R):5'- CCTGCAGACTCTGGACTTAGAAG -3'

Posted On

2018-11-06