Mutagenetix > Incidental Mutation

Incidental Mutation 'R6186:Pramel52-ps'

502161

Institutional Source

Beutler Lab

Gene Symbol

Pramel52-ps

Ensembl Gene

ENSMUSG00000073497

Gene Name

PRAME like 52, pseudogene

Synonyms

AA792892

MMRRC Submission

044326-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R6186 (G1)

Quality Score

107.008

Status

Not validated

Chromosome

Chromosomal Location

94487609-94532938 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94531835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 240 (Y240N)

Ref Sequence

ENSEMBL: ENSMUSP00000143886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097477] [ENSMUST00000202253]

AlphaFold

Q8C6S1

Predicted Effect

probably benign
Transcript: ENSMUST00000097477
AA Change: Y240N

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000095085
Gene: ENSMUSG00000073497
AA Change: Y240N

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	88	276	5e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202253
AA Change: Y240N

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000143886
Gene: ENSMUSG00000073497
AA Change: Y240N

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	88	276	5e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,298,502 (GRCm39)	S409P	probably damaging	Het
Adgrg5	T	C	8: 95,660,652 (GRCm39)	V93A	possibly damaging	Het
Akap8l	C	T	17: 32,552,018 (GRCm39)	V420I	probably benign	Het
Ankrd36	T	G	11: 5,593,812 (GRCm39)	D472E	possibly damaging	Het
Apbb1	T	C	7: 105,216,933 (GRCm39)	E250G	probably damaging	Het
Cacna2d4	G	A	6: 119,258,650 (GRCm39)	E579K	possibly damaging	Het
Capn7	G	T	14: 31,092,875 (GRCm39)	G780W	probably damaging	Het
Celsr1	T	C	15: 85,805,394 (GRCm39)	E2419G	possibly damaging	Het
Cep164	A	T	9: 45,705,407 (GRCm39)	S363R	probably damaging	Het
Cfap221	T	A	1: 119,862,340 (GRCm39)	I581F	probably damaging	Het
Cog2	C	A	8: 125,273,425 (GRCm39)	T588N	probably damaging	Het
Cyp2a5	T	C	7: 26,542,813 (GRCm39)		probably benign	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Evx1	T	C	6: 52,291,203 (GRCm39)		probably null	Het
Fam186a	T	C	15: 99,845,206 (GRCm39)	H346R	unknown	Het
Fam53b	T	A	7: 132,317,445 (GRCm39)	D399V	possibly damaging	Het
Fcho2	T	A	13: 98,951,591 (GRCm39)	N9I	probably benign	Het
Fjx1	T	C	2: 102,281,152 (GRCm39)	E261G	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fkbpl	T	C	17: 34,865,153 (GRCm39)	F307S	probably benign	Het
Fn1	A	G	1: 71,676,449 (GRCm39)	I594T	probably damaging	Het
Inpp4b	T	A	8: 82,772,863 (GRCm39)	V719E	probably damaging	Het
Ldlr	C	T	9: 21,635,055 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,377,968 (GRCm39)	V1419A	probably damaging	Het
Mapkap1	A	G	2: 34,453,126 (GRCm39)	T340A	possibly damaging	Het
Mark2	A	G	19: 7,260,567 (GRCm39)	V403A	probably benign	Het
Mast3	T	C	8: 71,238,127 (GRCm39)	T521A	probably damaging	Het
Mrtfa	T	C	15: 80,900,853 (GRCm39)	K546R	probably damaging	Het
Myo1h	C	T	5: 114,457,864 (GRCm39)	T125I	possibly damaging	Het
Ndufa8	A	G	2: 35,929,752 (GRCm39)	V118A	probably benign	Het
Nphs1	A	G	7: 30,165,059 (GRCm39)	T551A	probably damaging	Het
Or2k2	T	C	4: 58,784,948 (GRCm39)	Y258C	probably damaging	Het
Or4k15c	T	A	14: 50,321,982 (GRCm39)	D52V	probably damaging	Het
Pcm1	T	C	8: 41,746,830 (GRCm39)	L1343P	probably benign	Het
Pdcd1	T	A	1: 93,967,846 (GRCm39)	R202*	probably null	Het
Prkab2	A	G	3: 97,571,307 (GRCm39)		probably null	Het
Ptdss2	T	C	7: 140,734,862 (GRCm39)		probably benign	Het
Rap1b	G	T	10: 117,656,457 (GRCm39)	F78L	probably damaging	Het
Rbl2	C	T	8: 91,833,358 (GRCm39)	T711I	probably damaging	Het
Rhobtb2	A	G	14: 70,035,693 (GRCm39)	I126T	probably damaging	Het
Rimoc1	C	A	15: 4,015,851 (GRCm39)	D238Y	possibly damaging	Het
Rnf123	A	C	9: 107,947,157 (GRCm39)	S210A	possibly damaging	Het
Shank1	T	A	7: 44,001,990 (GRCm39)	F1228L	probably benign	Het
Spata31f3	T	C	4: 42,872,000 (GRCm39)	K125R	possibly damaging	Het
Sumo1	C	A	1: 59,683,729 (GRCm39)	V38L	probably benign	Het
Sycp2	C	T	2: 178,025,353 (GRCm39)	S363N	probably damaging	Het
Tbx2	G	T	11: 85,728,672 (GRCm39)	E352*	probably null	Het
Timm44	T	C	8: 4,316,824 (GRCm39)	N270D	probably damaging	Het
Topaz1	A	T	9: 122,577,891 (GRCm39)	Q267L	probably benign	Het
Trp63	T	C	16: 25,695,483 (GRCm39)		probably benign	Het
Ushbp1	T	A	8: 71,843,647 (GRCm39)	T264S	possibly damaging	Het
Vav3	A	G	3: 109,423,383 (GRCm39)	Y334C	probably damaging	Het
Wdr36	G	C	18: 32,985,954 (GRCm39)	A553P	probably benign	Het
Zfhx2	A	T	14: 55,300,617 (GRCm39)	I2378K	probably damaging	Het
Zfp276	T	A	8: 123,982,672 (GRCm39)	Y145*	probably null	Het
Zfp458	T	C	13: 67,405,701 (GRCm39)	E246G	probably damaging	Het
Zfp526	A	G	7: 24,925,561 (GRCm39)	T607A	probably benign	Het

Other mutations in Pramel52-ps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1985:Pramel52-ps	UTSW	5	94,531,931 (GRCm39)	missense	probably benign	0.13
R4247:Pramel52-ps	UTSW	5	94,531,446 (GRCm39)	missense	possibly damaging	0.93
R4607:Pramel52-ps	UTSW	5	94,531,387 (GRCm39)	missense	probably benign	0.35
R6585:Pramel52-ps	UTSW	5	94,529,415 (GRCm39)	missense	probably benign
R6755:Pramel52-ps	UTSW	5	94,529,268 (GRCm39)	missense	probably benign	0.03
R6945:Pramel52-ps	UTSW	5	94,531,490 (GRCm39)	missense	possibly damaging	0.57
R7352:Pramel52-ps	UTSW	5	94,531,743 (GRCm39)	missense	probably damaging	1.00
R7960:Pramel52-ps	UTSW	5	94,531,739 (GRCm39)	missense	probably benign	0.01
R8355:Pramel52-ps	UTSW	5	94,531,772 (GRCm39)	missense	probably damaging	1.00
R8356:Pramel52-ps	UTSW	5	94,531,703 (GRCm39)	missense	probably damaging	0.99
R8381:Pramel52-ps	UTSW	5	94,531,881 (GRCm39)	missense	probably damaging	1.00
R8489:Pramel52-ps	UTSW	5	94,531,551 (GRCm39)	missense	probably damaging	1.00
R8752:Pramel52-ps	UTSW	5	94,529,354 (GRCm39)	missense	possibly damaging	0.63
R9101:Pramel52-ps	UTSW	5	94,531,899 (GRCm39)	missense	probably damaging	1.00
R9577:Pramel52-ps	UTSW	5	94,531,805 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCCTCAGTCAATGCACTC -3'
(R):5'- TCACAGTTTCTGAGCACTGCAG -3'

Sequencing Primer
(F):5'- TCAGTCAATGCACTCACCTC -3'
(R):5'- GCACTGCAGATTAAAGATGTGTTCC -3'

Posted On

2018-02-27