Mutagenetix > Incidental Mutation

Incidental Mutation 'R7105:Pramel26'

551096

Institutional Source

Beutler Lab

Gene Symbol

Pramel26

Ensembl Gene

ENSMUSG00000059218

Gene Name

PRAME like 26

Synonyms

Gm13084

MMRRC Submission

045197-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R7105 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143535817-143542663 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 143537341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 330 (N330S)

Ref Sequence

ENSEMBL: ENSMUSP00000074557 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075045] [ENSMUST00000105769]

AlphaFold

A2A8N0

Predicted Effect

probably benign
Transcript: ENSMUST00000075045
AA Change: N330S

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000074557
Gene: ENSMUSG00000059218
AA Change: N330S

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	222	409	9e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105769
AA Change: N330S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101395
Gene: ENSMUSG00000059218
AA Change: N330S

Domain	Start	End	E-Value	Type
low complexity region	223	238	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (65/68)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,347,842 (GRCm39)	I3565N	probably damaging	Het
Adam8	T	C	7: 139,569,968 (GRCm39)	E99G	probably benign	Het
Adnp2	A	C	18: 80,171,366 (GRCm39)	H1014Q	possibly damaging	Het
Agbl4	T	A	4: 111,423,920 (GRCm39)	N315K	probably benign	Het
Ankrd33b	G	T	15: 31,305,214 (GRCm39)	N183K	probably damaging	Het
Arhgef39	A	G	4: 43,498,913 (GRCm39)	S113P	possibly damaging	Het
Bdp1	G	A	13: 100,206,689 (GRCm39)	P618S	probably damaging	Het
Bhlhe40	C	T	6: 108,641,997 (GRCm39)	P314S	possibly damaging	Het
Birc2	A	C	9: 7,819,442 (GRCm39)	I490S	probably damaging	Het
Blm	T	C	7: 80,149,516 (GRCm39)	I698V	probably benign	Het
C4b	G	A	17: 34,949,885 (GRCm39)	T1433M	possibly damaging	Het
Car12	A	G	9: 66,659,688 (GRCm39)	T238A	probably damaging	Het
Cend1	G	A	7: 141,007,565 (GRCm39)	P85L	probably benign	Het
Cftr	A	T	6: 18,318,971 (GRCm39)	D1337V	probably damaging	Het
Chsy3	T	A	18: 59,309,491 (GRCm39)	M248K	probably damaging	Het
Chtf8	A	G	8: 107,611,883 (GRCm39)	F352S	probably damaging	Het
Cimip4	T	A	15: 78,270,318 (GRCm39)	D150V	possibly damaging	Het
Csf2ra	T	C	19: 61,213,458 (GRCm39)	D384G	possibly damaging	Het
Ctnnbip1	T	C	4: 149,630,937 (GRCm39)	S59P	probably benign	Het
Cyth3	A	G	5: 143,693,027 (GRCm39)	N312D	probably benign	Het
Dtnb	T	C	12: 3,698,391 (GRCm39)		probably null	Het
Duox2	A	G	2: 122,120,033 (GRCm39)	S826P	possibly damaging	Het
Enthd1	C	T	15: 80,393,410 (GRCm39)	A273T	probably benign	Het
Gm3138	T	C	14: 15,632,304 (GRCm39)	V159A	possibly damaging	Het
Hhip	T	C	8: 80,701,638 (GRCm39)	D632G	probably benign	Het
Igfn1	A	T	1: 135,911,956 (GRCm39)	C114S	probably benign	Het
Islr2	T	C	9: 58,105,097 (GRCm39)	D765G	probably damaging	Het
Klf14	TCCCC	TCCC	6: 30,935,476 (GRCm39)		probably null	Het
Mapk12	G	A	15: 89,015,361 (GRCm39)	P362L	probably benign	Het
Msi1	T	G	5: 115,571,929 (GRCm39)	F96V	probably damaging	Het
Mthfd1l	T	C	10: 4,053,261 (GRCm39)	V870A	probably benign	Het
Nfat5	T	C	8: 108,095,823 (GRCm39)	S1355P	possibly damaging	Het
Oplah	T	C	15: 76,181,887 (GRCm39)	N1079D	probably damaging	Het
Or2ah1	G	T	2: 85,654,224 (GRCm39)	R303M	probably benign	Het
Osbpl1a	T	A	18: 12,900,020 (GRCm39)	I645F	probably benign	Het
Pank4	T	C	4: 155,064,624 (GRCm39)	S728P	probably benign	Het
Parp2	TTGCCATAAGTGCTAAATGAAGCC	T	14: 51,047,521 (GRCm39)		probably null	Het
Piezo1	A	G	8: 123,208,857 (GRCm39)	I2503T	unknown	Het
Plekhg6	A	G	6: 125,355,768 (GRCm39)	L12P	probably damaging	Het
Plekhs1	T	A	19: 56,465,647 (GRCm39)	F204Y	probably damaging	Het
Pramel32	G	A	4: 88,548,339 (GRCm39)	S22F	probably damaging	Het
Prep	T	A	10: 45,002,159 (GRCm39)	I438N	probably benign	Het
Prss58	T	C	6: 40,874,700 (GRCm39)	H47R	probably damaging	Het
Rad51ap2	T	G	12: 11,508,278 (GRCm39)	D733E	possibly damaging	Het
Robo1	A	T	16: 72,539,049 (GRCm39)	I31F	probably damaging	Het
Setd2	A	G	9: 110,377,328 (GRCm39)	Y381C	probably damaging	Het
Slc47a2	A	G	11: 61,233,269 (GRCm39)	V87A	probably benign	Het
Slc5a9	T	C	4: 111,755,892 (GRCm39)	N2S	probably benign	Het
Spata13	A	G	14: 60,991,319 (GRCm39)	D1024G	probably damaging	Het
Stat1	T	G	1: 52,190,408 (GRCm39)	N554K	probably benign	Het
Suclg2	T	C	6: 95,572,635 (GRCm39)	D110G	possibly damaging	Het
Sult1c2	T	A	17: 54,280,917 (GRCm39)		probably null	Het
Taf5l	A	G	8: 124,729,951 (GRCm39)	I246T	probably damaging	Het
Tcof1	A	T	18: 60,976,368 (GRCm39)	D80E	probably damaging	Het
Tmem233	T	C	5: 116,221,057 (GRCm39)	Y63C	probably damaging	Het
Tshz3	A	G	7: 36,469,181 (GRCm39)	E390G	probably damaging	Het
Ttn	T	C	2: 76,560,610 (GRCm39)	T29264A	possibly damaging	Het
Ubr5	T	C	15: 38,009,019 (GRCm39)	T1065A		Het
Vcp	A	G	4: 42,985,991 (GRCm39)	V341A	probably damaging	Het
Vmn1r176	A	T	7: 23,534,748 (GRCm39)	L135*	probably null	Het
Vmn1r57	T	A	7: 5,223,499 (GRCm39)	I8N	probably damaging	Het
Ythdc2	C	T	18: 44,967,630 (GRCm39)	P209S	probably damaging	Het
Zfp213	A	T	17: 23,777,178 (GRCm39)	V288D	probably benign	Het
Zfp362	T	C	4: 128,668,319 (GRCm39)	I418V	probably damaging	Het
Zfp707	C	A	15: 75,846,595 (GRCm39)	T215K		Het
Zfp957	G	C	14: 79,450,402 (GRCm39)	R466G	probably benign	Het

Other mutations in Pramel26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Pramel26	APN	4	143,539,293 (GRCm39)	missense	probably benign	0.32
IGL01075:Pramel26	APN	4	143,538,216 (GRCm39)	missense	possibly damaging	0.47
IGL02705:Pramel26	APN	4	143,537,372 (GRCm39)	missense	probably damaging	1.00
IGL03011:Pramel26	APN	4	143,538,330 (GRCm39)	missense	possibly damaging	0.95
PIT4498001:Pramel26	UTSW	4	143,539,406 (GRCm39)	missense	possibly damaging	0.63
R0268:Pramel26	UTSW	4	143,537,338 (GRCm39)	missense	probably damaging	1.00
R0344:Pramel26	UTSW	4	143,537,338 (GRCm39)	missense	probably damaging	1.00
R0390:Pramel26	UTSW	4	143,538,269 (GRCm39)	missense	probably benign	0.09
R0597:Pramel26	UTSW	4	143,539,222 (GRCm39)	missense	probably damaging	0.98
R0646:Pramel26	UTSW	4	143,539,155 (GRCm39)	missense	possibly damaging	0.83
R0927:Pramel26	UTSW	4	143,539,378 (GRCm39)	missense	probably benign	0.05
R0973:Pramel26	UTSW	4	143,538,428 (GRCm39)	missense	probably damaging	1.00
R1851:Pramel26	UTSW	4	143,539,396 (GRCm39)	missense	probably benign	0.33
R1852:Pramel26	UTSW	4	143,539,396 (GRCm39)	missense	probably benign	0.33
R3699:Pramel26	UTSW	4	143,536,922 (GRCm39)	missense	probably benign	0.05
R3705:Pramel26	UTSW	4	143,538,345 (GRCm39)	missense	probably benign	0.06
R3845:Pramel26	UTSW	4	143,538,545 (GRCm39)	missense	probably damaging	0.96
R4035:Pramel26	UTSW	4	143,537,026 (GRCm39)	missense	probably benign	0.08
R4044:Pramel26	UTSW	4	143,538,170 (GRCm39)	missense	probably benign	0.34
R4439:Pramel26	UTSW	4	143,538,143 (GRCm39)	missense	possibly damaging	0.49
R4660:Pramel26	UTSW	4	143,538,435 (GRCm39)	missense	probably benign	0.19
R4770:Pramel26	UTSW	4	143,538,519 (GRCm39)	missense	probably damaging	0.96
R4838:Pramel26	UTSW	4	143,537,375 (GRCm39)	nonsense	probably null
R5534:Pramel26	UTSW	4	143,539,169 (GRCm39)	nonsense	probably null
R5691:Pramel26	UTSW	4	143,538,579 (GRCm39)	missense	probably benign	0.44
R5893:Pramel26	UTSW	4	143,537,038 (GRCm39)	missense	probably damaging	1.00
R6123:Pramel26	UTSW	4	143,539,334 (GRCm39)	missense	possibly damaging	0.89
R6285:Pramel26	UTSW	4	143,542,609 (GRCm39)	missense	probably damaging	1.00
R6886:Pramel26	UTSW	4	143,539,332 (GRCm39)	missense	probably benign	0.29
R7135:Pramel26	UTSW	4	143,537,233 (GRCm39)	missense	probably damaging	1.00
R7474:Pramel26	UTSW	4	143,538,269 (GRCm39)	missense	probably benign	0.03
R7594:Pramel26	UTSW	4	143,539,286 (GRCm39)	missense	probably damaging	0.99
R7610:Pramel26	UTSW	4	143,539,436 (GRCm39)	missense	probably damaging	1.00
R7635:Pramel26	UTSW	4	143,536,987 (GRCm39)	missense	probably damaging	1.00
R7682:Pramel26	UTSW	4	143,537,290 (GRCm39)	missense	probably benign	0.38
R7986:Pramel26	UTSW	4	143,538,590 (GRCm39)	nonsense	probably null
R8222:Pramel26	UTSW	4	143,536,893 (GRCm39)	missense	possibly damaging	0.61
R8328:Pramel26	UTSW	4	143,537,380 (GRCm39)	missense	probably damaging	1.00
R8678:Pramel26	UTSW	4	143,538,576 (GRCm39)	missense	probably benign	0.21
R8887:Pramel26	UTSW	4	143,539,257 (GRCm39)	missense	probably damaging	0.99
R8942:Pramel26	UTSW	4	143,536,861 (GRCm39)	missense	probably benign	0.00
R9219:Pramel26	UTSW	4	143,537,303 (GRCm39)	missense	probably benign	0.02
R9291:Pramel26	UTSW	4	143,539,251 (GRCm39)	missense	probably benign	0.13
R9649:Pramel26	UTSW	4	143,542,609 (GRCm39)	missense	probably damaging	1.00
R9746:Pramel26	UTSW	4	143,536,886 (GRCm39)	missense	probably benign	0.24
Z1177:Pramel26	UTSW	4	143,538,588 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- ACATTGACTTAGGGCAGGC -3'
(R):5'- AGAAGGCAATGTCCTGGGTG -3'

Sequencing Primer
(F):5'- CAGCAGGGCATTGAAGTGAGTTTC -3'
(R):5'- AGACTGAGTCTGTGAGAAGTGTCATC -3'

Posted On

2019-05-15