Mutagenetix > Incidental Mutation

Incidental Mutation 'R5593:Pate2'

437629

Institutional Source

Beutler Lab

Gene Symbol

Pate2

Ensembl Gene

ENSMUSG00000074452

Gene Name

prostate and testis expressed 2

Synonyms

LOC330921, mANLP1

MMRRC Submission

043145-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5593 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35580935-35584185 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35581778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 24 (D24V)

Ref Sequence

ENSEMBL: ENSMUSP00000096505 (fasta)

Gene Model

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

AlphaFold

Q3UW31

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098906
AA Change: D24V

PolyPhen 2 Score 0.765 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096505
Gene: ENSMUSG00000074452
AA Change: D24V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118254
AA Change: D24V

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113239
Gene: ENSMUSG00000074452
AA Change: D24V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173488

Predicted Effect

unknown
Transcript: ENSMUST00000217565
AA Change: D20V

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	C	T	11: 3,888,027 (GRCm39)	V120I	unknown	Het
Anpep	T	G	7: 79,491,794 (GRCm39)	K69T	probably benign	Het
Appbp2	A	T	11: 85,085,409 (GRCm39)	I499K	possibly damaging	Het
Copb2	A	G	9: 98,469,091 (GRCm39)		probably null	Het
Cpa5	T	C	6: 30,630,848 (GRCm39)	I370T	probably benign	Het
Cpn2	T	C	16: 30,078,898 (GRCm39)	T268A	probably benign	Het
Ctbp2	C	A	7: 132,600,598 (GRCm39)	R99I	possibly damaging	Het
Cul1	G	A	6: 47,462,020 (GRCm39)	W196*	probably null	Het
Cul1	T	C	6: 47,491,925 (GRCm39)	F402L	probably damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Dyrk1a	C	A	16: 94,460,442 (GRCm39)	Q33K	possibly damaging	Het
Elapor2	T	A	5: 9,316,350 (GRCm39)	L27Q	probably benign	Het
Epg5	T	A	18: 78,000,689 (GRCm39)	S542T	probably damaging	Het
Eps8l3	A	T	3: 107,798,504 (GRCm39)		probably benign	Het
Evc2	A	G	5: 37,544,321 (GRCm39)	H690R	probably damaging	Het
Fam227a	G	A	15: 79,524,259 (GRCm39)		probably benign	Het
Gadl1	G	T	9: 115,835,718 (GRCm39)	G382V	probably damaging	Het
Gbf1	A	G	19: 46,260,963 (GRCm39)	Q1176R	possibly damaging	Het
Gdf9	A	T	11: 53,324,558 (GRCm39)	H109L	probably damaging	Het
Gsdmd	T	A	15: 75,738,856 (GRCm39)	V411D	probably damaging	Het
Hdc	T	C	2: 126,460,504 (GRCm39)		probably benign	Het
Ifrd2	A	G	9: 107,467,374 (GRCm39)	D82G	probably damaging	Het
Itpkb	T	C	1: 180,161,661 (GRCm39)	S596P	probably damaging	Het
Kcnmb3	A	G	3: 32,546,096 (GRCm39)	V8A	possibly damaging	Het
Lyst	T	G	13: 13,917,918 (GRCm39)	I3326S	probably damaging	Het
Mcm9	G	A	10: 53,414,393 (GRCm39)	T229I	probably damaging	Het
Medag	T	A	5: 149,350,415 (GRCm39)	F21L	probably benign	Het
Mefv	A	T	16: 3,533,315 (GRCm39)	C319S	probably benign	Het
Mettl23	T	A	11: 116,734,593 (GRCm39)	V54D	probably damaging	Het
Mul1	A	G	4: 138,166,543 (GRCm39)	D199G	probably damaging	Het
Ncor1	A	T	11: 62,260,130 (GRCm39)	I266N	probably damaging	Het
Nek10	A	T	14: 14,980,544 (GRCm38)	K967*	probably null	Het
Nrcam	A	G	12: 44,606,483 (GRCm39)	T410A	probably damaging	Het
Or1p1	A	G	11: 74,179,618 (GRCm39)	I49V	possibly damaging	Het
Or2b11	T	C	11: 59,461,874 (GRCm39)	R231G	possibly damaging	Het
Or52d13	C	T	7: 103,109,592 (GRCm39)		silent	Het
Or52e4	T	C	7: 104,705,711 (GRCm39)	I86T	probably damaging	Het
Plcb3	T	C	19: 6,932,117 (GRCm39)	I1124V	possibly damaging	Het
Ptprc	A	T	1: 138,045,458 (GRCm39)		probably benign	Het
Rab6a	T	C	7: 100,257,378 (GRCm39)		probably benign	Het
Rnf208	G	T	2: 25,133,345 (GRCm39)	W13L	possibly damaging	Het
Rps6kl1	G	T	12: 85,193,675 (GRCm39)	Q139K	possibly damaging	Het
Sdk1	T	A	5: 141,941,879 (GRCm39)	I509N	probably damaging	Het
Sephs1	A	G	2: 4,898,098 (GRCm39)	I170V	probably benign	Het
Slc17a8	C	T	10: 89,442,702 (GRCm39)	D44N	probably benign	Het
Slc23a1	T	A	18: 35,755,349 (GRCm39)	I489F	probably damaging	Het
Slc25a19	A	T	11: 115,507,418 (GRCm39)	Y235N	probably damaging	Het
Slc47a2	A	G	11: 61,233,486 (GRCm39)	V40A	probably benign	Het
Slurp2	C	T	15: 74,614,917 (GRCm39)	V75I	probably benign	Het
Smc1b	A	C	15: 85,005,842 (GRCm39)	M354R	probably benign	Het
Spice1	C	A	16: 44,191,115 (GRCm39)	A323E	possibly damaging	Het
Sptbn2	T	A	19: 4,798,975 (GRCm39)	V2015E	probably damaging	Het
Sptlc2	A	C	12: 87,415,857 (GRCm39)	F57V	probably benign	Het
Srsf1	A	G	11: 87,938,705 (GRCm39)	N14S	possibly damaging	Het
Ssh2	T	A	11: 77,312,192 (GRCm39)	D228E	probably damaging	Het
Synj2	A	G	17: 6,088,390 (GRCm39)	*1480W	probably null	Het
Syt14	A	T	1: 192,613,231 (GRCm39)	M523K	probably damaging	Het
Tff3	A	T	17: 31,348,516 (GRCm39)	V12E	probably benign	Het
Tgm2	C	A	2: 157,969,262 (GRCm39)	C371F	probably damaging	Het
Tmem260	A	C	14: 48,711,501 (GRCm39)	I197L	probably benign	Het
Unc5a	A	G	13: 55,152,747 (GRCm39)	D887G	possibly damaging	Het
Vstm4	G	T	14: 32,641,247 (GRCm39)	A277S	probably benign	Het
Wdtc1	A	T	4: 133,021,702 (GRCm39)		probably null	Het
Zan	A	G	5: 137,466,600 (GRCm39)	F419S	possibly damaging	Het
Zfp317	G	A	9: 19,558,584 (GRCm39)	R266Q	probably damaging	Het
Zfp931	T	A	2: 177,709,595 (GRCm39)	T264S	possibly damaging	Het
Zpld2	T	C	4: 133,920,350 (GRCm39)	K605R	probably damaging	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
R4323:Pate2	UTSW	9	35,581,767 (GRCm39)	splice site	probably benign
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
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'- GAACTCGGACCTCCTTAAATGGTATAC -3'
(R):5'- AGAAGGTGTGGTTAGCTGCC -3'

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

Posted On

2016-10-26