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: 0.865) question?

Stock #

R6824 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8797374-8811507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8804081 bp (GRCm39)

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: 39,552,058 (GRCm39)	D275G	probably benign	Het
Cdh4	G	A	2: 179,439,351 (GRCm39)	R166H	probably damaging	Het
Chl1	A	G	6: 103,691,510 (GRCm39)	K1051E	probably damaging	Het
Chn2	A	T	6: 54,249,938 (GRCm39)	M16L	probably benign	Het
Cmas	A	G	6: 142,716,962 (GRCm39)	T285A	possibly damaging	Het
Cnga4	A	T	7: 105,056,036 (GRCm39)	M213L	probably benign	Het
Ctif	C	T	18: 75,654,782 (GRCm39)	R248Q	probably damaging	Het
Cyth3	T	C	5: 143,672,265 (GRCm39)	I60T	probably damaging	Het
Dach1	A	G	14: 98,256,328 (GRCm39)	I310T	possibly damaging	Het
Defb6	T	C	8: 19,278,099 (GRCm39)	I57T	probably benign	Het
Dnajc27	T	C	12: 4,156,897 (GRCm39)	V262A	possibly damaging	Het
Emsy	G	A	7: 98,242,614 (GRCm39)	T1175M	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Fat4	T	A	3: 39,011,674 (GRCm39)	V2258E	probably benign	Het
Gm136	G	A	4: 34,746,591 (GRCm39)	T140I	probably benign	Het
Gps1	T	C	11: 120,678,254 (GRCm39)	F265S	probably damaging	Het
Grik5	C	T	7: 24,745,780 (GRCm39)	R431Q	possibly damaging	Het
Kmt2b	A	G	7: 30,285,701 (GRCm39)		probably benign	Het
Krt8	T	C	15: 101,906,875 (GRCm39)	N317S	possibly damaging	Het
Lad1	A	G	1: 135,755,479 (GRCm39)	T252A	probably benign	Het
Maml2	G	A	9: 13,608,513 (GRCm39)	S743N	possibly damaging	Het
Mrpl9	C	A	3: 94,350,677 (GRCm39)	P7H	possibly damaging	Het
Myb	T	A	10: 21,021,019 (GRCm39)	H470L	probably benign	Het
Nicol1	T	C	5: 34,141,069 (GRCm39)		probably benign	Het
Nr1i3	T	C	1: 171,042,542 (GRCm39)	I56T	probably benign	Het
Nrdc	A	G	4: 108,900,622 (GRCm39)	Y338C	probably damaging	Het
Or13n4	A	G	7: 106,423,664 (GRCm39)	V23A	probably benign	Het
Pcdhb20	T	A	18: 37,638,752 (GRCm39)	M426K	probably benign	Het
Pde6d	T	C	1: 86,473,485 (GRCm39)	T104A	possibly damaging	Het
Ptprz1	A	T	6: 23,002,130 (GRCm39)	T1407S	probably benign	Het
Recql5	C	T	11: 115,814,038 (GRCm39)	R369Q	possibly damaging	Het
Rnf180	T	A	13: 105,318,023 (GRCm39)	D463V	probably damaging	Het
Sart3	C	T	5: 113,882,600 (GRCm39)		probably null	Het
Sdk2	T	C	11: 113,758,760 (GRCm39)	D488G	probably benign	Het
Slc9a9	C	T	9: 95,109,251 (GRCm39)	P538S	probably damaging	Het
Snap29	A	G	16: 17,240,370 (GRCm39)	K159E	probably benign	Het
Spaca1	A	G	4: 34,049,869 (GRCm39)	V43A	probably benign	Het
Stk10	T	C	11: 32,537,363 (GRCm39)	S191P	probably damaging	Het
Tbc1d1	A	G	5: 64,414,245 (GRCm39)	H73R	probably benign	Het
Tcerg1l	A	G	7: 137,995,844 (GRCm39)		probably null	Het
Tmem67	T	C	4: 12,051,449 (GRCm39)	Y793C	probably damaging	Het
Ttll12	A	T	15: 83,475,578 (GRCm39)		probably null	Het
Vmn2r61	G	T	7: 41,949,403 (GRCm39)	V608L	probably benign	Het
Xpo4	A	T	14: 57,850,860 (GRCm39)	I348N	probably damaging	Het
Zfp941	G	A	7: 140,392,612 (GRCm39)	T249M	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
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
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'- ACCTAATGACTCTCTGCTTGTG -3'
(R):5'- AGATGTGGAGAGTCACTCTTGG -3'

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

Posted On

2018-09-12