Mutagenetix > Incidental Mutation

Incidental Mutation 'R3703:Hnrnpul2'

258635

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpul2

Ensembl Gene

ENSMUSG00000071659

Gene Name

heterogeneous nuclear ribonucleoprotein U-like 2

Synonyms

1110031M08Rik, Hnrpul2

MMRRC Submission

040696-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.827) question?

Stock #

R3703 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8797374-8811507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8801773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 327 (E327G)

Ref Sequence

ENSEMBL: ENSMUSP00000094515 (fasta)

Gene Model

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

AlphaFold

Q00PI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000096753
AA Change: E327G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000094515
Gene: ENSMUSG00000071659
AA Change: E327G

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

Meta Mutation Damage Score

0.6157

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	C	T	8: 77,985,685 (GRCm39)		probably null	Het
Asap3	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGAGGAGGA	4: 135,968,552 (GRCm39)		probably benign	Het
Bcap29	T	C	12: 31,667,151 (GRCm39)	H170R	probably benign	Het
Bltp1	T	A	3: 37,041,730 (GRCm39)	C2703S	probably damaging	Het
Brf1	T	C	12: 112,932,991 (GRCm39)		probably null	Het
Btnl7-ps	T	A	17: 34,752,941 (GRCm39)		noncoding transcript	Het
Cdh12	C	A	15: 21,583,912 (GRCm39)	T584K	probably damaging	Het
Col13a1	A	G	10: 61,703,608 (GRCm39)		probably null	Het
Col25a1	A	G	3: 130,343,682 (GRCm39)		probably null	Het
Csrp2	G	A	10: 110,773,735 (GRCm39)		probably benign	Het
Ctla2a	T	A	13: 61,083,821 (GRCm39)	D37V	probably damaging	Het
Cubn	T	A	2: 13,355,754 (GRCm39)	H1826L	probably damaging	Het
Dnajc19	A	G	3: 34,134,378 (GRCm39)		probably null	Het
Dxo	T	C	17: 35,057,745 (GRCm39)		probably benign	Het
Edil3	A	T	13: 89,325,417 (GRCm39)	M269L	probably benign	Het
Fbxl7	C	A	15: 26,543,841 (GRCm39)	G269C	probably damaging	Het
Gpnmb	T	A	6: 49,028,799 (GRCm39)	I439N	possibly damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Gtpbp3	T	G	8: 71,944,779 (GRCm39)	S345A	probably benign	Het
Ifi207	A	T	1: 173,555,029 (GRCm39)	Y884*	probably null	Het
Ifi47	T	C	11: 48,986,352 (GRCm39)	S40P	probably benign	Het
Kcnq3	A	G	15: 65,893,588 (GRCm39)		probably null	Het
Kifc3	G	A	8: 95,830,656 (GRCm39)		probably benign	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Mug1	C	T	6: 121,865,515 (GRCm39)		probably benign	Het
Myh2	A	G	11: 67,080,427 (GRCm39)	I1214V	probably benign	Het
Naa30	A	G	14: 49,425,059 (GRCm39)	N337S	probably benign	Het
Nap1l3	A	T	X: 121,305,221 (GRCm39)	I499N	possibly damaging	Het
Nfat5	T	A	8: 108,078,053 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,898,702 (GRCm39)		probably benign	Het
Nt5c3	A	G	6: 56,860,652 (GRCm39)		probably benign	Het
Pklr	C	T	3: 89,050,008 (GRCm39)	R328C	probably damaging	Het
Prrc2c	G	A	1: 162,538,260 (GRCm39)	R457C	probably damaging	Het
Rab1a	T	G	11: 20,174,506 (GRCm39)		probably benign	Het
Rasa3	A	T	8: 13,638,972 (GRCm39)	D278E	probably benign	Het
Rdh8	C	T	9: 20,734,629 (GRCm39)	P99S	probably damaging	Het
Snx9	T	A	17: 5,978,475 (GRCm39)		probably null	Het
Spns3	C	T	11: 72,390,356 (GRCm39)		probably benign	Het
Sympk	A	G	7: 18,774,486 (GRCm39)	Y421C	probably damaging	Het
Tas1r2	G	A	4: 139,394,729 (GRCm39)	C495Y	probably damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Tmprss15	T	C	16: 78,851,030 (GRCm39)		probably null	Het
Tox3	G	T	8: 90,975,533 (GRCm39)	T366K	possibly damaging	Het
Trdmt1	T	A	2: 13,526,108 (GRCm39)	Q170L	probably benign	Het
Ttn	A	T	2: 76,565,752 (GRCm39)	V28200D	probably damaging	Het
Zfp616	G	A	11: 73,974,145 (GRCm39)	W138*	probably null	Het
Zfr2	T	G	10: 81,081,913 (GRCm39)	V493G	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
R0369:Hnrnpul2	UTSW	19	8,801,777 (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
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'- TCCCAATGAAAGAAGGCTGC -3'
(R):5'- GGCTATTGCACATCTCAAATAACC -3'

Sequencing Primer
(F):5'- GAAGGCTGCACAGAAGTCTCTCTC -3'
(R):5'- GGAAGCATAGCAGAATCCTCTTAGC -3'

Posted On

2015-01-23