Mutagenetix > Incidental Mutation

Incidental Mutation 'R5379:Pramel25'

425740

Institutional Source

Beutler Lab

Gene Symbol

Pramel25

Ensembl Gene

ENSMUSG00000066031

Gene Name

PRAME like 25

Synonyms

MGC:91194, Gm13023

MMRRC Submission

042954-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5379 (G1)

Quality Score

221

Status

Not validated

Chromosome

Chromosomal Location

143515922-143522145 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143521493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 370 (I370V)

Ref Sequence

ENSEMBL: ENSMUSP00000082232 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085144] [ENSMUST00000105770] [ENSMUST00000149739]

AlphaFold

A2A8N2

Predicted Effect

probably benign
Transcript: ENSMUST00000085144
AA Change: I370V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000082232
Gene: ENSMUSG00000066031
AA Change: I370V

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	222	420	3e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105770

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139978

Predicted Effect

probably benign
Transcript: ENSMUST00000149739

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	T	A	11: 7,096,532 (GRCm39)	L640Q	probably damaging	Het
Afap1l1	T	C	18: 61,891,721 (GRCm39)	E32G	probably damaging	Het
Atp1a1	T	A	3: 101,489,411 (GRCm39)	M734L	probably benign	Het
B4galt6	T	C	18: 20,822,296 (GRCm39)	D294G	probably damaging	Het
Baz1a	T	G	12: 54,941,133 (GRCm39)	D1539A	probably damaging	Het
Bmper	T	A	9: 23,208,520 (GRCm39)	S141T	probably benign	Het
Camkv	T	C	9: 107,822,545 (GRCm39)	V20A	probably damaging	Het
Chst8	A	G	7: 34,375,279 (GRCm39)	Y187H	probably damaging	Het
Coro1c	A	G	5: 113,983,443 (GRCm39)	Y362H	probably damaging	Het
Csmd3	C	A	15: 47,499,846 (GRCm39)	G3008*	probably null	Het
Dnah17	T	C	11: 118,008,029 (GRCm39)		probably benign	Het
Dnajb1	C	T	8: 84,335,135 (GRCm39)	R59C	possibly damaging	Het
Dpf1	A	G	7: 29,003,533 (GRCm39)	K10E	probably benign	Het
Eif5	T	C	12: 111,509,989 (GRCm39)	L311P	probably damaging	Het
Eqtn	A	G	4: 94,795,825 (GRCm39)	F251S	probably damaging	Het
Fancg	A	G	4: 43,002,998 (GRCm39)	S620P	probably benign	Het
Farp1	T	C	14: 121,494,169 (GRCm39)	V550A	possibly damaging	Het
Fat2	T	C	11: 55,194,767 (GRCm39)	T1091A	probably damaging	Het
Fbxo33	A	G	12: 59,266,246 (GRCm39)		probably benign	Het
Fndc5	A	T	4: 129,035,887 (GRCm39)	I175F	probably damaging	Het
Gtf2ird2	G	C	5: 134,246,310 (GRCm39)	R856P	probably benign	Het
Hc	A	T	2: 34,881,077 (GRCm39)	F1481I	probably damaging	Het
Helz2	T	A	2: 180,876,862 (GRCm39)	T1211S	probably benign	Het
Hmcn2	G	A	2: 31,299,023 (GRCm39)	V2790M	probably damaging	Het
Ighv1-82	T	C	12: 115,916,297 (GRCm39)	Y71C	probably damaging	Het
Itgam	A	G	7: 127,711,560 (GRCm39)	D725G	probably damaging	Het
Kif9	T	C	9: 110,350,371 (GRCm39)	V754A	probably benign	Het
Larp4b	C	A	13: 9,186,945 (GRCm39)	T91K	probably benign	Het
Mki67	T	C	7: 135,299,190 (GRCm39)	E1948G	possibly damaging	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Mrgprb13	A	T	7: 47,961,496 (GRCm39)		noncoding transcript	Het
Nlrc4	A	T	17: 74,755,078 (GRCm39)	L46*	probably null	Het
Or13c7c	A	G	4: 43,836,010 (GRCm39)	I160T	probably benign	Het
Or7g21	A	T	9: 19,032,373 (GRCm39)	T38S	probably damaging	Het
Or8d1b	T	C	9: 38,887,151 (GRCm39)	Y60H	possibly damaging	Het
Orm1	A	G	4: 63,264,230 (GRCm39)		probably null	Het
Parva	A	T	7: 112,178,927 (GRCm39)	H311L	probably benign	Het
Proca1	C	A	11: 78,096,092 (GRCm39)	S154R	probably damaging	Het
R3hdm2	T	C	10: 127,307,771 (GRCm39)	V344A	probably damaging	Het
Rabep1	A	T	11: 70,799,247 (GRCm39)	K293N	probably damaging	Het
Ranbp6	A	G	19: 29,789,083 (GRCm39)	V423A	probably damaging	Het
Rnf20	T	A	4: 49,652,639 (GRCm39)	Y711N	possibly damaging	Het
Sf3b1	A	T	1: 55,042,309 (GRCm39)	M498K	possibly damaging	Het
Sin3a	T	C	9: 57,018,272 (GRCm39)	M897T	probably benign	Het
Sp140	T	A	1: 85,538,549 (GRCm39)	D95E	possibly damaging	Het
Srbd1	A	C	17: 86,308,964 (GRCm39)	I738S	possibly damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Svep1	A	G	4: 58,072,991 (GRCm39)	V2106A	possibly damaging	Het
Tasor2	T	C	13: 3,638,496 (GRCm39)	R412G	probably benign	Het
Tex47	G	A	5: 7,354,843 (GRCm39)	R8Q	probably null	Het
Trpc7	A	G	13: 56,952,363 (GRCm39)	Y548H	probably damaging	Het
Vmn1r170	A	T	7: 23,306,054 (GRCm39)	H152L	possibly damaging	Het
Zfp184	A	G	13: 22,144,051 (GRCm39)	I586V	probably damaging	Het
Zfp454	T	C	11: 50,774,629 (GRCm39)	T15A	probably damaging	Het

Other mutations in Pramel25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:Pramel25	APN	4	143,521,844 (GRCm39)	missense	probably benign	0.43
IGL01621:Pramel25	APN	4	143,520,502 (GRCm39)	missense	probably benign
IGL01777:Pramel25	APN	4	143,521,688 (GRCm39)	missense	possibly damaging	0.87
IGL02075:Pramel25	APN	4	143,521,602 (GRCm39)	missense	probably benign	0.05
IGL02098:Pramel25	APN	4	143,520,248 (GRCm39)	critical splice donor site	probably null
IGL02148:Pramel25	APN	4	143,519,304 (GRCm39)	missense	probably benign	0.25
IGL02355:Pramel25	APN	4	143,519,580 (GRCm39)	missense	probably damaging	1.00
IGL02362:Pramel25	APN	4	143,519,580 (GRCm39)	missense	probably damaging	1.00
IGL02828:Pramel25	APN	4	143,521,695 (GRCm39)	missense	possibly damaging	0.95
IGL03102:Pramel25	APN	4	143,520,116 (GRCm39)	missense	possibly damaging	0.84
IGL03234:Pramel25	APN	4	143,521,506 (GRCm39)	missense	probably benign	0.33
BB004:Pramel25	UTSW	4	143,519,536 (GRCm39)	missense	probably benign	0.29
BB014:Pramel25	UTSW	4	143,519,536 (GRCm39)	missense	probably benign	0.29
K3955:Pramel25	UTSW	4	143,521,710 (GRCm39)	missense	possibly damaging	0.79
R0054:Pramel25	UTSW	4	143,521,572 (GRCm39)	missense	probably damaging	1.00
R0637:Pramel25	UTSW	4	143,520,479 (GRCm39)	missense	probably benign	0.35
R1227:Pramel25	UTSW	4	143,520,134 (GRCm39)	missense	probably benign	0.00
R1370:Pramel25	UTSW	4	143,521,874 (GRCm39)	missense	possibly damaging	0.94
R1709:Pramel25	UTSW	4	143,520,116 (GRCm39)	missense	possibly damaging	0.84
R1982:Pramel25	UTSW	4	143,521,720 (GRCm39)	missense	probably benign	0.02
R2292:Pramel25	UTSW	4	143,520,446 (GRCm39)	missense	probably benign	0.08
R3087:Pramel25	UTSW	4	143,520,416 (GRCm39)	missense	probably benign	0.25
R4235:Pramel25	UTSW	4	143,521,344 (GRCm39)	missense	probably damaging	0.97
R4454:Pramel25	UTSW	4	143,519,394 (GRCm39)	missense	probably benign	0.00
R4504:Pramel25	UTSW	4	143,520,553 (GRCm39)	missense	probably benign	0.08
R4937:Pramel25	UTSW	4	143,520,407 (GRCm39)	missense	possibly damaging	0.46
R5041:Pramel25	UTSW	4	143,520,260 (GRCm39)	missense	probably benign	0.01
R5399:Pramel25	UTSW	4	143,521,602 (GRCm39)	missense	probably benign	0.00
R5445:Pramel25	UTSW	4	143,521,707 (GRCm39)	missense	possibly damaging	0.50
R6059:Pramel25	UTSW	4	143,520,550 (GRCm39)	missense	possibly damaging	0.80
R6885:Pramel25	UTSW	4	143,520,103 (GRCm39)	missense	probably damaging	1.00
R7846:Pramel25	UTSW	4	143,520,563 (GRCm39)	missense	probably benign	0.02
R7927:Pramel25	UTSW	4	143,519,536 (GRCm39)	missense	probably benign	0.29
R8285:Pramel25	UTSW	4	143,520,636 (GRCm39)	missense	probably benign	0.02
R8840:Pramel25	UTSW	4	143,521,638 (GRCm39)	missense	probably damaging	1.00
R8849:Pramel25	UTSW	4	143,521,596 (GRCm39)	missense	probably damaging	0.99
R8921:Pramel25	UTSW	4	143,519,322 (GRCm39)	nonsense	probably null
R9128:Pramel25	UTSW	4	143,520,178 (GRCm39)	missense	probably benign	0.00
R9232:Pramel25	UTSW	4	143,520,263 (GRCm39)	missense	probably benign	0.01
R9643:Pramel25	UTSW	4	143,521,855 (GRCm39)	nonsense	probably null
R9674:Pramel25	UTSW	4	143,520,162 (GRCm39)	missense	probably benign	0.02
Z1177:Pramel25	UTSW	4	143,521,551 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGCCATCTGCTTAGCTGTC -3'
(R):5'- CTCACTGATCAGCTGACTCAG -3'

Sequencing Primer
(F):5'- AAAGCCCTTGGAGACACTTTG -3'
(R):5'- AGCAGGGCTGTGTGGTGTAG -3'

Posted On

2016-08-04