Mutagenetix > Incidental Mutation

Incidental Mutation 'R6567:Pate5'

522755

Institutional Source

Beutler Lab

Gene Symbol

Pate5

Ensembl Gene

ENSMUSG00000047980

Gene Name

prostate and testis expressed 5

Synonyms

Pate-A, 9230110F15Rik, mANLP3, D730048I06Rik, Pate-C, Anlp2

MMRRC Submission

044691-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6567 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35749625-35755446 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35750411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 87 (Y87F)

Ref Sequence

ENSEMBL: ENSMUSP00000051917 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054175]

AlphaFold

Q9D262

Predicted Effect

probably benign
Transcript: ENSMUST00000054175
AA Change: Y87F

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000051917
Gene: ENSMUSG00000047980
AA Change: Y87F

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194200

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,950 (GRCm39)	T546A	probably benign	Het
Ahnak	G	T	19: 8,986,170 (GRCm39)	V2485L	probably benign	Het
C2cd5	T	C	6: 142,976,974 (GRCm39)	I722M	possibly damaging	Het
Clca4b	A	G	3: 144,638,100 (GRCm39)	I54T	possibly damaging	Het
Dennd2c	C	T	3: 103,039,335 (GRCm39)	A161V	probably benign	Het
Dmxl1	T	C	18: 49,992,246 (GRCm39)	Y331H	probably damaging	Het
Dnaaf11	C	T	15: 66,310,228 (GRCm39)	V347I	probably benign	Het
Dnajc2	G	A	5: 21,971,676 (GRCm39)	R247W	probably damaging	Het
Dock3	T	C	9: 106,773,946 (GRCm39)	T380A	probably benign	Het
Evc2	T	C	5: 37,576,508 (GRCm39)	V1044A	probably benign	Het
Ints2	T	C	11: 86,117,487 (GRCm39)	H745R	probably benign	Het
Kcnh1	T	A	1: 191,959,412 (GRCm39)	M322K	probably benign	Het
Mmp19	A	G	10: 128,632,275 (GRCm39)	T191A	probably benign	Het
Mms19	A	G	19: 41,938,206 (GRCm39)		probably null	Het
Mtcl3	G	T	10: 29,023,279 (GRCm39)	V209F	probably benign	Het
Ncapd3	T	C	9: 26,978,300 (GRCm39)	I833T	possibly damaging	Het
Nif3l1	T	A	1: 58,494,789 (GRCm39)	C253S	probably benign	Het
Or52e2	A	T	7: 102,804,135 (GRCm39)	I273K	possibly damaging	Het
Pcsk1	T	A	13: 75,278,189 (GRCm39)	I584N	probably damaging	Het
Pms2	T	C	5: 143,865,786 (GRCm39)	V50A	probably damaging	Het
Rptor	A	G	11: 119,786,838 (GRCm39)	I1268V	probably benign	Het
Scap	C	T	9: 110,212,630 (GRCm39)	R1021W	probably damaging	Het
Sos1	A	T	17: 80,740,932 (GRCm39)	Y618N	probably damaging	Het
Tesk2	C	T	4: 116,649,361 (GRCm39)	A157V	probably damaging	Het
Tm6sf2	C	A	8: 70,528,174 (GRCm39)	H108N	probably damaging	Het
Trank1	T	C	9: 111,176,589 (GRCm39)	V287A	probably benign	Het
Tsks	A	T	7: 44,603,305 (GRCm39)	Q369L	probably damaging	Het
Vmn2r58	T	C	7: 41,514,673 (GRCm39)	T99A	probably benign	Het
Wbp11	C	T	6: 136,797,537 (GRCm39)	S294N	probably benign	Het
Zfp608	T	C	18: 55,030,628 (GRCm39)	Y1104C	probably damaging	Het
Zfp759	T	A	13: 67,287,150 (GRCm39)	S234T	probably benign	Het

Other mutations in Pate5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02732:Pate5	APN	9	35,750,345 (GRCm39)	missense	probably damaging	1.00
R0904:Pate5	UTSW	9	35,750,366 (GRCm39)	missense	probably damaging	1.00
R1599:Pate5	UTSW	9	35,750,333 (GRCm39)	missense	probably benign	0.05
R2135:Pate5	UTSW	9	35,750,479 (GRCm39)	splice site	probably null
R4135:Pate5	UTSW	9	35,750,724 (GRCm39)	missense	possibly damaging	0.94
R4951:Pate5	UTSW	9	35,750,732 (GRCm39)	missense	probably damaging	0.99
R6455:Pate5	UTSW	9	35,755,351 (GRCm39)	nonsense	probably null
R8206:Pate5	UTSW	9	35,750,719 (GRCm39)	missense	possibly damaging	0.77
R8889:Pate5	UTSW	9	35,750,682 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGATAGTTAGTGTGGACATTCAC -3'
(R):5'- GCATTCTTACCGAGAAGAAGC -3'

Sequencing Primer
(F):5'- AGTTAGTGTGGACATTCACTTCATG -3'
(R):5'- GAAGAAGCTATATTCCTCCTCGGG -3'

Posted On

2018-06-06