Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01989:Hnrnpul2'

182813

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hnrnpul2

Ensembl Gene

ENSMUSG00000071659

Gene Name

heterogeneous nuclear ribonucleoprotein U-like 2

Synonyms

1110031M08Rik, Hnrpul2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.865) question?

Stock #

IGL01989

Quality Score

Status

Chromosome

Chromosomal Location

8797374-8811507 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8800992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 282 (T282A)

Ref Sequence

ENSEMBL: ENSMUSP00000094515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088092] [ENSMUST00000096751] [ENSMUST00000096753] [ENSMUST00000153281]

AlphaFold

Q00PI9

Predicted Effect

probably benign
Transcript: ENSMUST00000088092

SMART Domains

Protein: ENSMUSP00000085413
Gene: ENSMUSG00000071660

Domain	Start	End	E-Value	Type
TPR	8	41	1.11e1	SMART
TPR	72	107	3.41e1	SMART
TPR	108	141	7.34e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000096751

SMART Domains

Protein: ENSMUSP00000094513
Gene: ENSMUSG00000071660

Domain	Start	End	E-Value	Type
TPR	8	41	1.11e1	SMART
TPR	72	107	3.41e1	SMART
TPR	108	141	7.34e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000096753
AA Change: T282A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000094515
Gene: ENSMUSG00000071659
AA Change: T282A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148090

Predicted Effect

probably benign
Transcript: ENSMUST00000153281

SMART Domains

Protein: ENSMUSP00000120656
Gene: ENSMUSG00000071660

Domain	Start	End	E-Value	Type
Pfam:TPR_11	6	93	1e-8	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	T	10: 28,862,266 (GRCm39)	V8D	probably damaging	Het
Asb15	A	G	6: 24,565,943 (GRCm39)	T299A	probably damaging	Het
Asph	A	T	4: 9,602,462 (GRCm39)		probably benign	Het
Cadm3	G	A	1: 173,165,578 (GRCm39)		probably benign	Het
Cep164	G	A	9: 45,704,313 (GRCm39)		probably benign	Het
Ces2c	C	A	8: 105,576,375 (GRCm39)	N129K	probably damaging	Het
Chdh	C	A	14: 29,753,688 (GRCm39)	P199Q	possibly damaging	Het
Dnah7b	T	C	1: 46,328,694 (GRCm39)	V3142A	probably damaging	Het
Dnmbp	A	G	19: 43,855,994 (GRCm39)	L254P	probably damaging	Het
Dock2	G	T	11: 34,218,053 (GRCm39)	N1172K	probably benign	Het
Dppa5a	T	A	9: 78,275,103 (GRCm39)	E66D	probably benign	Het
F5	A	G	1: 164,003,876 (GRCm39)	S224G	probably benign	Het
Fign	T	C	2: 63,810,794 (GRCm39)	T159A	probably benign	Het
Fsip2	A	T	2: 82,824,211 (GRCm39)	D6648V	probably damaging	Het
Gbp2b	A	T	3: 142,317,201 (GRCm39)	E519V	probably benign	Het
Hdac10	A	G	15: 89,009,546 (GRCm39)	L462P	probably damaging	Het
Hecw2	A	G	1: 53,879,951 (GRCm39)	L1286S	probably damaging	Het
Hnrnpll	A	G	17: 80,346,169 (GRCm39)	V364A	probably benign	Het
Il12a	T	A	3: 68,598,909 (GRCm39)		probably benign	Het
Insl5	C	A	4: 102,883,838 (GRCm39)	V28L	probably benign	Het
Kcnj3	G	A	2: 55,327,243 (GRCm39)	D11N	probably benign	Het
Lrfn2	A	G	17: 49,378,113 (GRCm39)	D398G	probably damaging	Het
Lrp1	C	T	10: 127,413,998 (GRCm39)	D1137N	probably damaging	Het
Mettl18	C	A	1: 163,823,872 (GRCm39)	D64E	probably benign	Het
Mrpl3	A	G	9: 104,948,678 (GRCm39)	T245A	probably benign	Het
Mrps18c	C	A	5: 100,949,775 (GRCm39)	P52Q	probably damaging	Het
Myh3	A	T	11: 66,977,481 (GRCm39)	D377V	probably damaging	Het
N4bp1	C	A	8: 87,575,115 (GRCm39)	V727L	probably damaging	Het
Npffr2	A	G	5: 89,730,831 (GRCm39)	T254A	probably benign	Het
Nsfl1c	C	A	2: 151,342,649 (GRCm39)	T73K	probably damaging	Het
Or8a1b	C	T	9: 37,623,132 (GRCm39)	V148I	probably damaging	Het
Plxna1	C	T	6: 89,306,396 (GRCm39)	W1442*	probably null	Het
Serpina3n	T	A	12: 104,379,750 (GRCm39)	M381K	probably benign	Het
Shank3	C	T	15: 89,387,502 (GRCm39)		probably benign	Het
Smtnl1	T	C	2: 84,648,814 (GRCm39)	N147D	probably benign	Het
Sprr2j-ps	T	C	3: 92,326,412 (GRCm39)	S96P	unknown	Het
Ssh2	A	G	11: 77,344,511 (GRCm39)	E832G	possibly damaging	Het
Stxbp1	T	C	2: 32,702,076 (GRCm39)	D207G	probably benign	Het
Sult1c2	A	T	17: 54,281,055 (GRCm39)	M16K	probably benign	Het
Tmem247	A	G	17: 87,225,719 (GRCm39)	E53G	probably damaging	Het
Tmem86a	A	T	7: 46,703,187 (GRCm39)	I105F	probably benign	Het
Tph2	A	G	10: 114,981,921 (GRCm39)	S304P	probably benign	Het
Ttn	T	C	2: 76,608,883 (GRCm39)	D17711G	probably damaging	Het
Urb1	A	T	16: 90,566,474 (GRCm39)		probably benign	Het
Vcan	T	A	13: 89,837,478 (GRCm39)	I1729L	possibly damaging	Het
Vmn2r90	T	A	17: 17,933,494 (GRCm39)	Y351*	probably null	Het
Wfdc5	C	T	2: 164,020,651 (GRCm39)		probably null	Het
Wnt3	G	A	11: 103,703,233 (GRCm39)	D239N	probably benign	Het
Zbtb8b	T	A	4: 129,326,181 (GRCm39)	E295V	probably damaging	Het
Zfp458	T	C	13: 67,407,691 (GRCm39)	T52A	probably damaging	Het

Other mutations in Hnrnpul2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-05-07