Mutagenetix > Incidental Mutation

Incidental Mutation 'R0369:Hnrnpul2'

30407

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpul2

Ensembl Gene

ENSMUSG00000071659

Gene Name

heterogeneous nuclear ribonucleoprotein U-like 2

Synonyms

1110031M08Rik, Hnrpul2

MMRRC Submission

038575-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.865) question?

Stock #

R0369 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8797374-8811507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 8801777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 328 (D328E)

Ref Sequence

ENSEMBL: ENSMUSP00000094515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096753]

AlphaFold

Q00PI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000096753
AA Change: D328E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000094515
Gene: ENSMUSG00000071659
AA Change: D328E

Domain	Start	End	E-Value	Type
SAP	3	37	6.03e-9	SMART
low complexity region	68	126	N/A	INTRINSIC
low complexity region	224	240	N/A	INTRINSIC
SPRY	287	416	5.23e-32	SMART
Pfam:AAA_33	452	597	1.2e-25	PFAM
low complexity region	637	666	N/A	INTRINSIC
low complexity region	700	719	N/A	INTRINSIC
low complexity region	728	745	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 94.8%
20x: 87.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	G	A	9: 114,129,077 (GRCm39)		noncoding transcript	Het
Aadacl2	T	A	3: 59,932,143 (GRCm39)	Y219*	probably null	Het
Adamts13	C	A	2: 26,895,198 (GRCm39)	D1096E	probably benign	Het
Adamts16	T	G	13: 70,927,671 (GRCm39)	K523Q	possibly damaging	Het
Adcy2	A	G	13: 68,820,019 (GRCm39)	F740S	probably benign	Het
Carmil1	T	A	13: 24,266,003 (GRCm39)	N253I	probably damaging	Het
Ccdc97	T	C	7: 25,413,833 (GRCm39)	T283A	probably damaging	Het
Cmpk2	G	T	12: 26,527,150 (GRCm39)	E380*	probably null	Het
Csmd3	A	G	15: 47,833,543 (GRCm39)	I911T	probably damaging	Het
Cyp2c39	T	C	19: 39,502,079 (GRCm39)	L156P	probably damaging	Het
D7Ertd443e	T	C	7: 133,899,866 (GRCm39)	I499V	possibly damaging	Het
Dhx58	A	C	11: 100,592,374 (GRCm39)		probably null	Het
Dip2a	C	T	10: 76,134,621 (GRCm39)	G390S	probably damaging	Het
Dusp10	A	G	1: 183,801,253 (GRCm39)	D340G	probably damaging	Het
Epha1	A	T	6: 42,342,407 (GRCm39)	C314S	probably damaging	Het
Exph5	A	T	9: 53,284,602 (GRCm39)	H561L	probably benign	Het
Fbxw26	A	G	9: 109,552,780 (GRCm39)		probably null	Het
Foxc1	A	C	13: 31,991,495 (GRCm39)	N102T	probably damaging	Het
Fsip2	T	C	2: 82,814,908 (GRCm39)	I3547T	probably benign	Het
Gm5464	G	T	14: 67,106,774 (GRCm39)		probably benign	Het
Gnptab	C	T	10: 88,269,456 (GRCm39)	R720C	possibly damaging	Het
Greb1l	T	C	18: 10,469,375 (GRCm39)	V130A	possibly damaging	Het
Hmg20a	A	T	9: 56,394,934 (GRCm39)	D216V	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ift172	T	C	5: 31,410,985 (GRCm39)	Y1691C	probably damaging	Het
Kremen2	T	C	17: 23,961,784 (GRCm39)	D241G	probably benign	Het
Meis2	T	C	2: 115,893,897 (GRCm39)	D5G	possibly damaging	Het
Mrps5	G	A	2: 127,433,749 (GRCm39)	R46K	probably benign	Het
Myh14	C	T	7: 44,310,374 (GRCm39)	V170M	probably damaging	Het
Nexn	T	C	3: 151,953,894 (GRCm39)	N123D	probably benign	Het
Or11g26	T	A	14: 50,753,282 (GRCm39)	M207K	probably benign	Het
Or4d11	A	T	19: 12,013,765 (GRCm39)	S114T	probably benign	Het
Or51l14	T	A	7: 103,101,423 (GRCm39)	I293N	probably damaging	Het
Pacs1	C	T	19: 5,191,726 (GRCm39)	V704M	probably damaging	Het
Papolg	A	G	11: 23,822,425 (GRCm39)		probably null	Het
Pdlim3	T	C	8: 46,370,543 (GRCm39)	V281A	probably benign	Het
Plpp4	T	G	7: 128,925,190 (GRCm39)	F142V	probably damaging	Het
Prb1a	G	A	6: 132,184,620 (GRCm39)	Q338*	probably null	Het
Psg26	G	T	7: 18,216,481 (GRCm39)	Y119*	probably null	Het
Ptger4	A	G	15: 5,272,491 (GRCm39)	C68R	probably benign	Het
Ptpre	T	A	7: 135,272,444 (GRCm39)	I399N	probably damaging	Het
Ripply2	A	G	9: 86,898,372 (GRCm39)	Y72C	probably damaging	Het
Rp1l1	T	A	14: 64,266,837 (GRCm39)	S808T	possibly damaging	Het
Scn5a	G	A	9: 119,362,838 (GRCm39)	T594I	probably damaging	Het
Sf3b1	T	C	1: 55,037,267 (GRCm39)	D883G	probably benign	Het
Skint5	A	T	4: 113,369,220 (GRCm39)		probably null	Het
Terf1	A	G	1: 15,889,207 (GRCm39)	H212R	probably damaging	Het
Tmco5	T	G	2: 116,711,269 (GRCm39)		probably null	Het
Tnfaip3	A	T	10: 18,882,660 (GRCm39)	Y252*	probably null	Het
Tnrc6a	T	A	7: 122,770,083 (GRCm39)	N624K	probably damaging	Het
Top3a	C	A	11: 60,633,615 (GRCm39)	R827L	probably damaging	Het
Unc79	G	A	12: 103,055,031 (GRCm39)		probably null	Het
Usp20	T	C	2: 30,901,116 (GRCm39)	S422P	probably benign	Het
Utrn	T	C	10: 12,509,766 (GRCm39)	E2402G	probably benign	Het
Wdr3	G	A	3: 100,063,734 (GRCm39)	Q181*	probably null	Het
Zfp536	T	C	7: 37,267,373 (GRCm39)	E681G	probably damaging	Het
Zfp91	C	T	19: 12,747,438 (GRCm39)	V562I	possibly damaging	Het
Zfp942	A	T	17: 22,148,017 (GRCm39)	I204N	probably benign	Het

Other mutations in Hnrnpul2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01989:Hnrnpul2	APN	19	8,800,992 (GRCm39)	missense	probably damaging	1.00
R0136:Hnrnpul2	UTSW	19	8,804,165 (GRCm39)	missense	probably damaging	1.00
R0781:Hnrnpul2	UTSW	19	8,804,110 (GRCm39)	missense	probably damaging	1.00
R0784:Hnrnpul2	UTSW	19	8,802,416 (GRCm39)	missense	possibly damaging	0.82
R1110:Hnrnpul2	UTSW	19	8,804,110 (GRCm39)	missense	probably damaging	1.00
R1227:Hnrnpul2	UTSW	19	8,800,601 (GRCm39)	missense	possibly damaging	0.91
R1589:Hnrnpul2	UTSW	19	8,808,696 (GRCm39)	missense	probably benign	0.00
R2126:Hnrnpul2	UTSW	19	8,801,802 (GRCm39)	nonsense	probably null
R2226:Hnrnpul2	UTSW	19	8,802,349 (GRCm39)	missense	probably damaging	0.96
R2243:Hnrnpul2	UTSW	19	8,798,001 (GRCm39)	missense	probably benign
R3703:Hnrnpul2	UTSW	19	8,801,773 (GRCm39)	missense	probably damaging	1.00
R4038:Hnrnpul2	UTSW	19	8,800,591 (GRCm39)	unclassified	probably benign
R4856:Hnrnpul2	UTSW	19	8,807,191 (GRCm39)	missense	probably benign	0.20
R4886:Hnrnpul2	UTSW	19	8,807,191 (GRCm39)	missense	probably benign	0.20
R5016:Hnrnpul2	UTSW	19	8,800,189 (GRCm39)	missense	possibly damaging	0.94
R5365:Hnrnpul2	UTSW	19	8,798,080 (GRCm39)	missense	probably benign
R5435:Hnrnpul2	UTSW	19	8,797,682 (GRCm39)	missense	probably benign	0.32
R5951:Hnrnpul2	UTSW	19	8,802,255 (GRCm39)	missense	probably damaging	1.00
R6181:Hnrnpul2	UTSW	19	8,800,596 (GRCm39)	missense	possibly damaging	0.70
R6824:Hnrnpul2	UTSW	19	8,804,081 (GRCm39)	missense	possibly damaging	0.89
R6924:Hnrnpul2	UTSW	19	8,808,873 (GRCm39)	missense	unknown
R6978:Hnrnpul2	UTSW	19	8,801,640 (GRCm39)	missense	probably damaging	1.00
R7602:Hnrnpul2	UTSW	19	8,808,673 (GRCm39)	missense	probably damaging	0.99
R7688:Hnrnpul2	UTSW	19	8,797,994 (GRCm39)	missense	probably benign
R7726:Hnrnpul2	UTSW	19	8,808,644 (GRCm39)	missense	possibly damaging	0.61
R7749:Hnrnpul2	UTSW	19	8,797,788 (GRCm39)	missense	probably benign
R7753:Hnrnpul2	UTSW	19	8,802,336 (GRCm39)	missense	probably damaging	1.00
R8007:Hnrnpul2	UTSW	19	8,798,179 (GRCm39)	critical splice donor site	probably null
R8725:Hnrnpul2	UTSW	19	8,798,064 (GRCm39)	missense	probably benign	0.00
R8727:Hnrnpul2	UTSW	19	8,798,064 (GRCm39)	missense	probably benign	0.00
R8901:Hnrnpul2	UTSW	19	8,801,809 (GRCm39)	missense	probably damaging	0.98
R8994:Hnrnpul2	UTSW	19	8,802,350 (GRCm39)	missense	probably damaging	1.00
R9012:Hnrnpul2	UTSW	19	8,801,829 (GRCm39)	missense	possibly damaging	0.69
R9187:Hnrnpul2	UTSW	19	8,808,319 (GRCm39)	missense	probably benign	0.28
R9347:Hnrnpul2	UTSW	19	8,798,080 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTCCCAATGAAAGAAGGCTGCAC -3'
(R):5'- TGAATGCTGGGGCTATTGCACATC -3'

Sequencing Primer
(F):5'- AGGCTGCACAGAAGTCTCTC -3'
(R):5'- GGGGCTATTGCACATCTCAAATAAC -3'

Posted On

2013-04-24