Mutagenetix > Incidental Mutation

Incidental Mutation 'R4323:Pate2'

323919

Institutional Source

Beutler Lab

Gene Symbol

Pate2

Ensembl Gene

ENSMUSG00000074452

Gene Name

prostate and testis expressed 2

Synonyms

LOC330921, mANLP1

MMRRC Submission

041094-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4323 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35580935-35584185 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 35581767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098906] [ENSMUST00000118254]

AlphaFold

Q3UW31

Predicted Effect

probably benign
Transcript: ENSMUST00000098906

SMART Domains

Protein: ENSMUSP00000096505
Gene: ENSMUSG00000074452

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118254

SMART Domains

Protein: ENSMUSP00000113239
Gene: ENSMUSG00000074452

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173488

Predicted Effect

probably benign
Transcript: ENSMUST00000217565

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

95% (59/62)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	A	G	4: 62,465,548 (GRCm39)	Y414C	probably damaging	Het
Akr1b1	T	C	6: 34,287,862 (GRCm39)	T166A	probably benign	Het
Ankhd1	C	T	18: 36,711,686 (GRCm39)	S94L	probably damaging	Het
B4galt3	G	T	1: 171,103,515 (GRCm39)	M68I	possibly damaging	Het
Bpnt1	A	C	1: 185,088,786 (GRCm39)	H312P	probably benign	Het
Ccdc178	T	A	18: 22,166,600 (GRCm39)	K530*	probably null	Het
Ccdc191	A	G	16: 43,767,872 (GRCm39)	E624G	probably damaging	Het
Clasp2	T	C	9: 113,719,027 (GRCm39)	V724A	possibly damaging	Het
Copa	G	T	1: 171,946,831 (GRCm39)	C1022F	probably damaging	Het
Cwf19l2	T	G	9: 3,430,452 (GRCm39)	F261L	probably damaging	Het
Esr1	G	A	10: 4,951,307 (GRCm39)	V562M	possibly damaging	Het
Fap	T	C	2: 62,333,716 (GRCm39)	H643R	probably damaging	Het
Fbxo38	T	A	18: 62,648,232 (GRCm39)	M769L	probably benign	Het
Fgfr1	A	G	8: 26,063,915 (GRCm39)	N814S	probably benign	Het
Hipk3	C	A	2: 104,276,916 (GRCm39)	V388L	probably damaging	Het
Hspa1l	T	A	17: 35,196,832 (GRCm39)	Y290*	probably null	Het
Itsn1	G	A	16: 91,615,440 (GRCm39)		probably benign	Het
Jam2	T	C	16: 84,619,744 (GRCm39)		probably benign	Het
Kprp	G	A	3: 92,732,163 (GRCm39)	R296W	probably damaging	Het
Med23	T	C	10: 24,746,603 (GRCm39)	I14T	probably benign	Het
Mitf	A	G	6: 97,968,910 (GRCm39)	Y10C	probably benign	Het
Mpo	T	C	11: 87,686,865 (GRCm39)	S165P	probably damaging	Het
Neb	T	G	2: 52,154,122 (GRCm39)	M2330L	possibly damaging	Het
Nup214	T	C	2: 31,884,696 (GRCm39)	S486P	probably benign	Het
Or2y1f	G	A	11: 49,184,503 (GRCm39)	M118I	probably damaging	Het
Parp6	G	A	9: 59,537,969 (GRCm39)	V205I	possibly damaging	Het
Pdss1	T	C	2: 22,802,608 (GRCm39)		probably benign	Het
Pira13	A	G	7: 3,825,754 (GRCm39)	S372P	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Septin1	G	A	7: 126,816,200 (GRCm39)	P77S	probably damaging	Het
Slitrk3	A	G	3: 72,958,118 (GRCm39)	L218P	probably damaging	Het
Sltm	T	C	9: 70,487,529 (GRCm39)	I521T	probably benign	Het
Smchd1	A	G	17: 71,735,270 (GRCm39)	I618T	probably benign	Het
Sox6	A	G	7: 115,179,798 (GRCm39)		probably null	Het
Sp8	A	G	12: 118,812,171 (GRCm39)	I9V	probably benign	Het
Usp9y	T	A	Y: 1,434,407 (GRCm39)	M352L	possibly damaging	Het
Vmn1r46	T	C	6: 89,953,349 (GRCm39)	M66T	probably benign	Het
Vmn2r111	A	T	17: 22,792,159 (GRCm39)	N32K	probably benign	Het
Vmn2r63	A	G	7: 42,576,406 (GRCm39)	F469S	probably benign	Het
Vps13d	T	A	4: 144,879,348 (GRCm39)	T1486S	probably benign	Het
Wdr55	A	G	18: 36,896,153 (GRCm39)	N281S	probably benign	Het
Zswim6	G	A	13: 108,025,938 (GRCm39)		noncoding transcript	Het

Other mutations in Pate2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:Pate2	APN	9	35,580,998 (GRCm39)	start codon destroyed	probably null
IGL01729:Pate2	APN	9	35,581,888 (GRCm39)	missense	probably damaging	1.00
IGL03055:Pate2	APN	9	35,523,069 (GRCm39)	splice site	probably benign
foie_gras	UTSW	9	35,581,797 (GRCm39)	nonsense	probably null
PIT4576001:Pate2	UTSW	9	35,581,889 (GRCm39)	missense	probably damaging	1.00
R1229:Pate2	UTSW	9	35,580,991 (GRCm39)	missense	probably damaging	0.98
R1397:Pate2	UTSW	9	35,580,991 (GRCm39)	missense	probably damaging	0.98
R2393:Pate2	UTSW	9	35,581,036 (GRCm39)	splice site	probably benign
R2426:Pate2	UTSW	9	35,581,776 (GRCm39)	critical splice acceptor site	probably null
R3407:Pate2	UTSW	9	35,582,262 (GRCm39)	missense	probably damaging	0.99
R4574:Pate2	UTSW	9	35,596,969 (GRCm39)	intron	probably benign
R4716:Pate2	UTSW	9	35,596,978 (GRCm39)	intron	probably benign
R5023:Pate2	UTSW	9	35,597,407 (GRCm39)	intron	probably benign
R5057:Pate2	UTSW	9	35,597,407 (GRCm39)	intron	probably benign
R5384:Pate2	UTSW	9	35,581,837 (GRCm39)	missense	probably damaging	0.98
R5574:Pate2	UTSW	9	35,597,411 (GRCm39)	intron	probably benign
R5593:Pate2	UTSW	9	35,581,778 (GRCm39)	missense	possibly damaging	0.76
R5851:Pate2	UTSW	9	35,581,797 (GRCm39)	nonsense	probably null
R6510:Pate2	UTSW	9	35,581,018 (GRCm39)	missense	probably null	0.99
R6800:Pate2	UTSW	9	35,596,941 (GRCm39)	intron	probably benign
R6819:Pate2	UTSW	9	35,581,801 (GRCm39)	missense	probably damaging	1.00
R7531:Pate2	UTSW	9	35,582,008 (GRCm39)	splice site	probably null
R7765:Pate2	UTSW	9	35,581,197 (GRCm39)	missense	probably benign	0.15
R7842:Pate2	UTSW	9	35,581,829 (GRCm39)	missense	probably damaging	1.00
R8015:Pate2	UTSW	9	35,581,814 (GRCm39)	missense	probably damaging	0.99
R8957:Pate2	UTSW	9	35,596,911 (GRCm39)	missense	probably benign	0.03
R9126:Pate2	UTSW	9	35,581,908 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCGGACCTCCTTAAATGGTATAC -3'
(R):5'- TGGTTAGCTGCCCATCATTC -3'

Sequencing Primer
(F):5'- TTAAGTTCTAGCCCAGCCAGG -3'
(R):5'- GGTTAGCTGCCCATCATTCCATTAC -3'

Posted On

2015-06-24