Mutagenetix > Incidental Mutation

Incidental Mutation 'R6824:Hnrnpul2'

534078

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpul2

Ensembl Gene

ENSMUSG00000071659

Gene Name

heterogeneous nuclear ribonucleoprotein U-like 2

Synonyms

1110031M08Rik, Hnrpul2

MMRRC Submission

044936-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.826) question?

Stock #

R6824 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8819401-8834142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8826717 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 560 (V560A)

Ref Sequence

ENSEMBL: ENSMUSP00000094515 (fasta)

Gene Model

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

AlphaFold

Q00PI9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096753
AA Change: V560A

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000094515
Gene: ENSMUSG00000071659
AA Change: V560A

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck2	A	G	6: 39,575,124	D275G	probably benign	Het
Cdh4	G	A	2: 179,797,558	R166H	probably damaging	Het
Chl1	A	G	6: 103,714,549	K1051E	probably damaging	Het
Chn2	A	T	6: 54,272,953	M16L	probably benign	Het
Cmas	A	G	6: 142,771,236	T285A	possibly damaging	Het
Cnga4	A	T	7: 105,406,829	M213L	probably benign	Het
Ctif	C	T	18: 75,521,711	R248Q	probably damaging	Het
Cyth3	T	C	5: 143,686,510	I60T	probably damaging	Het
Dach1	A	G	14: 98,018,892	I310T	possibly damaging	Het
Defb6	T	C	8: 19,228,083	I57T	probably benign	Het
Dnajc27	T	C	12: 4,106,897	V262A	possibly damaging	Het
Emsy	G	A	7: 98,593,407	T1175M	probably benign	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Fam50b	G	A	13: 34,747,101	E187K	possibly damaging	Het
Fat4	T	A	3: 38,957,525	V2258E	probably benign	Het
Gm136	G	A	4: 34,746,591	T140I	probably benign	Het
Gm1673	T	C	5: 33,983,725		probably benign	Het
Gps1	T	C	11: 120,787,428	F265S	probably damaging	Het
Grik5	C	T	7: 25,046,355	R431Q	possibly damaging	Het
Kmt2b	A	G	7: 30,586,276		probably benign	Het
Krt8	T	C	15: 101,998,440	N317S	possibly damaging	Het
Lad1	A	G	1: 135,827,741	T252A	probably benign	Het
Maml2	G	A	9: 13,697,217	S743N	possibly damaging	Het
Mrpl9	C	A	3: 94,443,370	P7H	possibly damaging	Het
Myb	T	A	10: 21,145,120	H470L	probably benign	Het
Nr1i3	T	C	1: 171,214,973	I56T	probably benign	Het
Nrd1	A	G	4: 109,043,425	Y338C	probably damaging	Het
Olfr702	A	G	7: 106,824,457	V23A	probably benign	Het
Pcdhb20	T	A	18: 37,505,699	M426K	probably benign	Het
Pde6d	T	C	1: 86,545,763	T104A	possibly damaging	Het
Ptprz1	A	T	6: 23,002,131	T1407S	probably benign	Het
Recql5	C	T	11: 115,923,212	R369Q	possibly damaging	Het
Rnf180	T	A	13: 105,181,515	D463V	probably damaging	Het
Sart3	C	T	5: 113,744,539		probably null	Het
Sdk2	T	C	11: 113,867,934	D488G	probably benign	Het
Slc9a9	C	T	9: 95,227,198	P538S	probably damaging	Het
Snap29	A	G	16: 17,422,506	K159E	probably benign	Het
Spaca1	A	G	4: 34,049,869	V43A	probably benign	Het
Stk10	T	C	11: 32,587,363	S191P	probably damaging	Het
Tbc1d1	A	G	5: 64,256,902	H73R	probably benign	Het
Tcerg1l	A	G	7: 138,394,115		probably null	Het
Tmem67	T	C	4: 12,051,449	Y793C	probably damaging	Het
Ttll12	A	T	15: 83,591,377		probably null	Het
Vmn2r61	G	T	7: 42,299,979	V608L	probably benign	Het
Xpo4	A	T	14: 57,613,403	I348N	probably damaging	Het
Zfp941	G	A	7: 140,812,699	T249M	probably benign	Het

Other mutations in Hnrnpul2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01989:Hnrnpul2	APN	19	8823628	missense	probably damaging	1.00
R0136:Hnrnpul2	UTSW	19	8826801	missense	probably damaging	1.00
R0369:Hnrnpul2	UTSW	19	8824413	missense	probably damaging	1.00
R0781:Hnrnpul2	UTSW	19	8826746	missense	probably damaging	1.00
R0784:Hnrnpul2	UTSW	19	8825052	missense	possibly damaging	0.82
R1110:Hnrnpul2	UTSW	19	8826746	missense	probably damaging	1.00
R1227:Hnrnpul2	UTSW	19	8823237	missense	possibly damaging	0.91
R1589:Hnrnpul2	UTSW	19	8831332	missense	probably benign	0.00
R2126:Hnrnpul2	UTSW	19	8824438	nonsense	probably null
R2226:Hnrnpul2	UTSW	19	8824985	missense	probably damaging	0.96
R2243:Hnrnpul2	UTSW	19	8820637	missense	probably benign
R3703:Hnrnpul2	UTSW	19	8824409	missense	probably damaging	1.00
R4038:Hnrnpul2	UTSW	19	8823227	unclassified	probably benign
R4856:Hnrnpul2	UTSW	19	8829827	missense	probably benign	0.20
R4886:Hnrnpul2	UTSW	19	8829827	missense	probably benign	0.20
R5016:Hnrnpul2	UTSW	19	8822825	missense	possibly damaging	0.94
R5365:Hnrnpul2	UTSW	19	8820716	missense	probably benign
R5435:Hnrnpul2	UTSW	19	8820318	missense	probably benign	0.32
R5951:Hnrnpul2	UTSW	19	8824891	missense	probably damaging	1.00
R6181:Hnrnpul2	UTSW	19	8823232	missense	possibly damaging	0.70
R6924:Hnrnpul2	UTSW	19	8831509	missense	unknown
R6978:Hnrnpul2	UTSW	19	8824276	missense	probably damaging	1.00
R7602:Hnrnpul2	UTSW	19	8831309	missense	probably damaging	0.99
R7688:Hnrnpul2	UTSW	19	8820630	missense	probably benign
R7726:Hnrnpul2	UTSW	19	8831280	missense	possibly damaging	0.61
R7749:Hnrnpul2	UTSW	19	8820424	missense	probably benign
R7753:Hnrnpul2	UTSW	19	8824972	missense	probably damaging	1.00
R8007:Hnrnpul2	UTSW	19	8820815	critical splice donor site	probably null
R8725:Hnrnpul2	UTSW	19	8820700	missense	probably benign	0.00
R8727:Hnrnpul2	UTSW	19	8820700	missense	probably benign	0.00
R8901:Hnrnpul2	UTSW	19	8824445	missense	probably damaging	0.98
R8994:Hnrnpul2	UTSW	19	8824986	missense	probably damaging	1.00
R9012:Hnrnpul2	UTSW	19	8824465	missense	possibly damaging	0.69
R9187:Hnrnpul2	UTSW	19	8830955	missense	probably benign	0.28
R9347:Hnrnpul2	UTSW	19	8820716	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCTAATGACTCTCTGCTTGTG -3'
(R):5'- AGATGTGGAGAGTCACTCTTGG -3'

Sequencing Primer
(F):5'- GCTCACGGGTAGAACAATTTTC -3'
(R):5'- ACTCTTGGTGATAAGCAAGGTTG -3'

Posted On

2018-09-12