Mutagenetix > Incidental Mutation

Incidental Mutation 'R9362:Pramel39-ps'

708742

Institutional Source

Beutler Lab

Gene Symbol

Pramel39-ps

Ensembl Gene

ENSMUSG00000094560

Gene Name

PRAME like 39, pseudogene

Synonyms

A430089I19Rik, Gm16522, Pramel39

MMRRC Submission

Accession Numbers

Essential gene?

Not available question?

Stock #

R9362 (G1)

Quality Score

213.009

Status

Not validated

Chromosome

Chromosomal Location

94450378-94454655 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 94451001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 375 (P375H)

Ref Sequence

ENSEMBL: ENSMUSP00000095087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097479]

AlphaFold

Q8C9W1

Predicted Effect

probably damaging
Transcript: ENSMUST00000097479
AA Change: P375H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095087
Gene: ENSMUSG00000094560
AA Change: P375H

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	210	401	1e-13	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	T	A	15: 94,236,626 (GRCm39)	N798I	possibly damaging	Het
Ahdc1	G	A	4: 132,790,348 (GRCm39)	V530I	probably benign	Het
Arhgef17	A	C	7: 100,580,165 (GRCm39)	L261R	probably benign	Het
Bcr	C	A	10: 74,993,023 (GRCm39)	N839K	probably benign	Het
Bltp1	A	G	3: 37,011,162 (GRCm39)	T1786A	probably benign	Het
Bmpr1a	A	G	14: 34,156,360 (GRCm39)	I169T	probably benign	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Ccdc88a	T	A	11: 29,453,922 (GRCm39)	L1695Q	probably null	Het
Cnr1	T	C	4: 33,944,038 (GRCm39)	I142T	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Elmod1	T	A	9: 53,833,304 (GRCm39)	D167V	possibly damaging	Het
Fam136a	C	T	6: 86,345,855 (GRCm39)	T124I	possibly damaging	Het
Galnt13	A	G	2: 54,623,064 (GRCm39)	D70G	probably benign	Het
Ggcx	T	G	6: 72,405,015 (GRCm39)	N474K	probably damaging	Het
Gm10295	C	A	7: 71,000,755 (GRCm39)		probably benign	Het
Gm5145	A	G	17: 20,791,342 (GRCm39)	H240R	probably damaging	Het
Gsr	A	T	8: 34,179,406 (GRCm39)	D338V	probably damaging	Het
Hcfc2	C	T	10: 82,574,258 (GRCm39)	P144L	probably damaging	Het
Igf2r	A	T	17: 12,941,062 (GRCm39)	I473N	probably benign	Het
Ighv5-8	A	T	12: 113,616,940 (GRCm39)	D107E	probably benign	Het
Il23r	T	A	6: 67,400,384 (GRCm39)	S649C	probably damaging	Het
Ltbp3	A	G	19: 5,803,697 (GRCm39)	D794G	probably benign	Het
Mapk3	A	G	7: 126,363,444 (GRCm39)	I273V		Het
Mycbp2	C	T	14: 103,497,642 (GRCm39)	V977I	probably damaging	Het
Myh7	A	G	14: 55,222,932 (GRCm39)	F758L	probably benign	Het
Myom1	A	T	17: 71,343,288 (GRCm39)	I162F	probably benign	Het
Ncor2	C	T	5: 125,095,265 (GRCm39)	C1541Y		Het
Nwd2	G	T	5: 63,961,747 (GRCm39)	D444Y	probably benign	Het
Obsl1	A	G	1: 75,482,391 (GRCm39)	Y160H	probably benign	Het
Or8u8	C	A	2: 86,011,732 (GRCm39)	C241F	probably damaging	Het
Sall2	T	A	14: 52,550,601 (GRCm39)	K865*	probably null	Het
Shank2	A	T	7: 143,963,271 (GRCm39)	D293V	probably damaging	Het
Sidt1	T	C	16: 44,078,316 (GRCm39)	Y649C	possibly damaging	Het
Slc11a2	T	C	15: 100,304,236 (GRCm39)	E154G	probably damaging	Het
Slc5a12	C	T	2: 110,447,044 (GRCm39)	T184I	probably damaging	Het
Slfn3	T	C	11: 83,103,807 (GRCm39)	I226T	probably benign	Het
Snapc4	T	A	2: 26,254,865 (GRCm39)	N1220Y	probably damaging	Het
Tars1	A	G	15: 11,387,616 (GRCm39)	C557R	probably damaging	Het
Tead2	A	G	7: 44,881,740 (GRCm39)	E402G	probably damaging	Het
Zfp37	G	A	4: 62,110,299 (GRCm39)	S296F	probably benign	Het

Other mutations in Pramel39-ps

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2366:Pramel39-ps	UTSW	5	94,450,972 (GRCm39)	missense	probably benign	0.00
R7218:Pramel39-ps	UTSW	5	94,451,113 (GRCm39)	missense	probably benign
R7651:Pramel39-ps	UTSW	5	94,451,236 (GRCm39)	missense	probably benign	0.13
R9141:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9216:Pramel39-ps	UTSW	5	94,450,952 (GRCm39)	missense	possibly damaging	0.94
R9237:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9238:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9242:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9360:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9361:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9363:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9391:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9418:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9419:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9420:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9421:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00
R9426:Pramel39-ps	UTSW	5	94,451,001 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTTCCTGACAAAGTTGGGC -3'
(R):5'- CCAAATTTCACAGTCAGACTTGG -3'

Sequencing Primer
(F):5'- GTTCCTGACAAAGTTGGGCAAATC -3'
(R):5'- TCACAGTCAGACTTGGATTCC -3'

Posted On

2022-04-18