Mutagenetix > Incidental Mutation

Incidental Mutation 'R8531:Pramel27'

659039

Institutional Source

Beutler Lab

Gene Symbol

Pramel27

Ensembl Gene

ENSMUSG00000029451

Gene Name

PRAME like 27

Synonyms

Gm13103

MMRRC Submission

068501-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R8531 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143573067-143580207 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143579601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 395 (D395E)

Ref Sequence

ENSEMBL: ENSMUSP00000092099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094522] [ENSMUST00000105768] [ENSMUST00000139747]

AlphaFold

Q4VAD2

Predicted Effect

probably benign
Transcript: ENSMUST00000094522
AA Change: D395E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000092099
Gene: ENSMUSG00000029451
AA Change: D395E

Domain	Start	End	E-Value	Type
low complexity region	403	413	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105768

Predicted Effect

probably benign
Transcript: ENSMUST00000139747

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	T	15: 81,950,622 (GRCm39)	R1506S	probably benign	Het
Acox2	T	C	14: 8,247,960 (GRCm38)	T441A	probably damaging	Het
Adam6a	A	G	12: 113,508,917 (GRCm39)	E430G	probably damaging	Het
Afg3l2	T	C	18: 67,540,439 (GRCm39)	E690G	probably damaging	Het
Alb	A	G	5: 90,611,873 (GRCm39)	I101V	probably benign	Het
Arhgef19	T	C	4: 140,976,903 (GRCm39)	I493T	possibly damaging	Het
Btnl2	T	C	17: 34,577,028 (GRCm39)	M61T	probably benign	Het
Cyp2d11	A	G	15: 82,273,429 (GRCm39)	Y481H	probably benign	Het
Dennd4c	T	C	4: 86,744,319 (GRCm39)		probably null	Het
Dhx9	C	A	1: 153,334,182 (GRCm39)	V993F	possibly damaging	Het
Dlk1	A	G	12: 109,424,066 (GRCm39)	Q110R	probably null	Het
Dmp1	A	C	5: 104,360,269 (GRCm39)	D315A	probably damaging	Het
Dnah3	T	C	7: 119,550,591 (GRCm39)	K3243E	probably damaging	Het
Dsc3	T	C	18: 20,101,449 (GRCm39)	N648S	probably benign	Het
Dsc3	C	T	18: 20,114,274 (GRCm39)	D327N	probably damaging	Het
Egr4	T	C	6: 85,489,106 (GRCm39)	D318G	probably damaging	Het
Fiz1	A	T	7: 5,012,163 (GRCm39)	C118*	probably null	Het
Flad1	A	C	3: 89,310,517 (GRCm39)	Y479D	probably damaging	Het
Flnb	T	C	14: 7,929,939 (GRCm38)	F2023S	probably damaging	Het
Glp1r	T	C	17: 31,143,531 (GRCm39)	L189P	probably damaging	Het
Grm5	A	T	7: 87,779,724 (GRCm39)	T1055S	probably benign	Het
Gucy1a1	A	G	3: 82,018,468 (GRCm39)	I123T	probably benign	Het
Ifnar1	T	A	16: 91,292,344 (GRCm39)	C199*	probably null	Het
Lepr	A	T	4: 101,622,612 (GRCm39)	Y464F	probably damaging	Het
Mamdc4	G	T	2: 25,457,730 (GRCm39)	Q452K	possibly damaging	Het
Map2k6	A	G	11: 110,290,175 (GRCm39)		probably benign	Het
Mphosph10	T	C	7: 64,034,076 (GRCm39)	I429V	possibly damaging	Het
Neb	T	A	2: 52,181,074 (GRCm39)	M1178L	possibly damaging	Het
Nherf4	T	C	9: 44,159,670 (GRCm39)	E442G	probably damaging	Het
Npc2	C	A	12: 84,807,612 (GRCm39)	R82L	probably benign	Het
Olfm5	A	T	7: 103,803,029 (GRCm39)	M478K	probably benign	Het
Or5aq6	G	T	2: 86,923,670 (GRCm39)	Q24K	probably benign	Het
Or5k14	A	C	16: 58,693,016 (GRCm39)	L166V	probably damaging	Het
Osbpl9	T	C	4: 109,013,908 (GRCm39)	D62G	probably damaging	Het
Otog	C	T	7: 45,901,473 (GRCm39)	R391C	probably damaging	Het
Plppr4	T	C	3: 117,115,592 (GRCm39)	Y755C	probably damaging	Het
Pnpla8	T	A	12: 44,358,368 (GRCm39)	F708I	possibly damaging	Het
Pom121l12	A	T	11: 14,549,932 (GRCm39)	T213S	probably benign	Het
Rabep1	T	C	11: 70,799,332 (GRCm39)	S278P	probably benign	Het
Rigi	A	G	4: 40,225,596 (GRCm39)		probably null	Het
Rnf213	C	G	11: 119,365,031 (GRCm39)	Q4563E	probably benign	Het
Rttn	C	A	18: 89,131,467 (GRCm39)	R1949S	probably benign	Het
Rwdd3	T	C	3: 120,952,788 (GRCm39)	I140V	probably benign	Het
Serpinb6a	A	T	13: 34,115,462 (GRCm39)	M53K	probably damaging	Het
Serpinb9g	A	T	13: 33,676,896 (GRCm39)	D226V	possibly damaging	Het
Serpind1	A	T	16: 17,160,847 (GRCm39)	Y459F	probably damaging	Het
Skor2	T	C	18: 76,946,569 (GRCm39)	V97A	unknown	Het
Slc26a4	C	T	12: 31,599,911 (GRCm39)		probably null	Het
Slc4a10	T	C	2: 62,097,851 (GRCm39)	Y517H	probably damaging	Het
Sphkap	A	G	1: 83,254,909 (GRCm39)	W947R	probably damaging	Het
Sult3a2	T	C	10: 33,653,239 (GRCm39)	D167G	probably damaging	Het
Supt16	A	T	14: 52,410,020 (GRCm39)	M729K	probably damaging	Het
Tmem176b	A	G	6: 48,811,538 (GRCm39)	I37T	possibly damaging	Het
Tmem259	A	G	10: 79,813,819 (GRCm39)	V423A	probably damaging	Het
Tmem62	G	T	2: 120,837,533 (GRCm39)	L483F	probably damaging	Het
Tnfrsf13b	T	C	11: 61,031,777 (GRCm39)		probably null	Het
Tut7	A	T	13: 59,937,074 (GRCm39)	I1191K	probably damaging	Het
Txk	C	A	5: 72,893,720 (GRCm39)	C20F	possibly damaging	Het
Ube2w	A	C	1: 16,672,542 (GRCm39)	N46K	probably benign	Het
Unc79	A	T	12: 103,013,922 (GRCm39)	H300L	probably damaging	Het
Unc79	T	A	12: 103,049,855 (GRCm39)	H920Q	probably benign	Het
Vmn1r16	A	G	6: 57,299,900 (GRCm39)	Y241H	probably damaging	Het
Vmn2r100	A	T	17: 19,742,459 (GRCm39)	I278F	possibly damaging	Het
Zfp260	T	A	7: 29,804,884 (GRCm39)	H261Q	probably damaging	Het

Other mutations in Pramel27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01363:Pramel27	APN	4	143,579,846 (GRCm39)	missense	probably benign	0.01
IGL01383:Pramel27	APN	4	143,573,102 (GRCm39)	utr 5 prime	probably benign
IGL01735:Pramel27	APN	4	143,578,401 (GRCm39)	missense	probably damaging	1.00
IGL01976:Pramel27	APN	4	143,579,363 (GRCm39)	missense	probably benign	0.17
IGL03096:Pramel27	APN	4	143,577,485 (GRCm39)	missense	probably benign	0.01
IGL03280:Pramel27	APN	4	143,578,489 (GRCm39)	missense	possibly damaging	0.74
IGL03295:Pramel27	APN	4	143,579,759 (GRCm39)	missense	probably damaging	1.00
FR4342:Pramel27	UTSW	4	143,578,213 (GRCm39)	frame shift	probably null
PIT4687001:Pramel27	UTSW	4	143,573,103 (GRCm39)	start gained	probably benign
R0218:Pramel27	UTSW	4	143,578,401 (GRCm39)	missense	probably damaging	1.00
R0612:Pramel27	UTSW	4	143,578,658 (GRCm39)	unclassified	probably benign
R1755:Pramel27	UTSW	4	143,577,380 (GRCm39)	missense	probably damaging	1.00
R2509:Pramel27	UTSW	4	143,578,561 (GRCm39)	missense	probably benign	0.01
R2510:Pramel27	UTSW	4	143,578,561 (GRCm39)	missense	probably benign	0.01
R2511:Pramel27	UTSW	4	143,578,561 (GRCm39)	missense	probably benign	0.01
R4603:Pramel27	UTSW	4	143,579,451 (GRCm39)	missense	probably benign	0.01
R4694:Pramel27	UTSW	4	143,579,530 (GRCm39)	missense	probably damaging	0.97
R4856:Pramel27	UTSW	4	143,579,873 (GRCm39)	missense	probably benign	0.00
R4886:Pramel27	UTSW	4	143,579,873 (GRCm39)	missense	probably benign	0.00
R4927:Pramel27	UTSW	4	143,578,187 (GRCm39)	missense	probably damaging	1.00
R5168:Pramel27	UTSW	4	143,579,768 (GRCm39)	missense	probably benign	0.02
R5270:Pramel27	UTSW	4	143,578,468 (GRCm39)	missense	probably damaging	0.97
R5402:Pramel27	UTSW	4	143,578,225 (GRCm39)	critical splice donor site	probably null
R5618:Pramel27	UTSW	4	143,577,263 (GRCm39)	missense	possibly damaging	0.92
R6078:Pramel27	UTSW	4	143,578,155 (GRCm39)	missense	possibly damaging	0.58
R6138:Pramel27	UTSW	4	143,578,155 (GRCm39)	missense	possibly damaging	0.58
R6362:Pramel27	UTSW	4	143,579,435 (GRCm39)	missense	probably damaging	0.99
R6526:Pramel27	UTSW	4	143,579,384 (GRCm39)	missense	probably damaging	1.00
R6555:Pramel27	UTSW	4	143,578,140 (GRCm39)	missense	possibly damaging	0.58
R6595:Pramel27	UTSW	4	143,579,326 (GRCm39)	missense	probably damaging	1.00
R6675:Pramel27	UTSW	4	143,579,828 (GRCm39)	missense	probably damaging	0.98
R7216:Pramel27	UTSW	4	143,578,399 (GRCm39)	missense	probably damaging	0.96
R7282:Pramel27	UTSW	4	143,578,451 (GRCm39)	missense	possibly damaging	0.85
R7424:Pramel27	UTSW	4	143,579,779 (GRCm39)	missense	probably benign	0.01
R7511:Pramel27	UTSW	4	143,573,116 (GRCm39)	missense	possibly damaging	0.68
R7591:Pramel27	UTSW	4	143,577,481 (GRCm39)	missense	probably benign	0.01
R7868:Pramel27	UTSW	4	143,578,154 (GRCm39)	missense	possibly damaging	0.58
R8192:Pramel27	UTSW	4	143,578,109 (GRCm39)	nonsense	probably null
R8244:Pramel27	UTSW	4	143,579,854 (GRCm39)	missense	probably damaging	1.00
R8256:Pramel27	UTSW	4	143,578,255 (GRCm39)	missense	probably benign	0.05
R8540:Pramel27	UTSW	4	143,579,496 (GRCm39)	missense	probably benign	0.00
R8793:Pramel27	UTSW	4	143,577,627 (GRCm39)	intron	probably benign
R8880:Pramel27	UTSW	4	143,573,140 (GRCm39)	critical splice donor site	probably null
R9069:Pramel27	UTSW	4	143,578,345 (GRCm39)	missense	probably benign	0.00
R9603:Pramel27	UTSW	4	143,578,267 (GRCm39)	missense
R9748:Pramel27	UTSW	4	143,579,892 (GRCm39)	makesense	probably null
R9797:Pramel27	UTSW	4	143,579,818 (GRCm39)	missense	possibly damaging	0.79
U15987:Pramel27	UTSW	4	143,578,155 (GRCm39)	missense	possibly damaging	0.58
Z1176:Pramel27	UTSW	4	143,579,680 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- AGACTTGGATTACCTGCCCTATTG -3'
(R):5'- TGGGTATATCCAGGACTTCAGG -3'

Sequencing Primer
(F):5'- GCCCTATTGCCTGAATATTTTTGAG -3'
(R):5'- CCAGGACTTCAGGACAAAATTGTTC -3'

Posted On

2021-01-18