Mutagenetix > Incidental Mutation

Incidental Mutation 'R8007:Hnrnpul2'

616717

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpul2

Ensembl Gene

ENSMUSG00000071659

Gene Name

heterogeneous nuclear ribonucleoprotein U-like 2

Synonyms

1110031M08Rik, Hnrpul2

MMRRC Submission

046047-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.865) question?

Stock #

R8007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8797374-8811507 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 8798179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000096753

SMART Domains

Protein: ENSMUSP00000094515
Gene: ENSMUSG00000071659

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

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,647,845 (GRCm39)		probably benign	Het
A430033K04Rik	T	C	5: 138,644,901 (GRCm39)	I262T	probably benign	Het
Acacb	A	G	5: 114,356,935 (GRCm39)	R1289G	probably damaging	Het
Adgre4	A	T	17: 56,121,233 (GRCm39)	H433L	probably damaging	Het
Adgrv1	A	G	13: 81,431,585 (GRCm39)	F5948L	probably benign	Het
Adtrp	A	T	13: 41,969,707 (GRCm39)	D97E	probably damaging	Het
Anapc5	T	C	5: 122,929,963 (GRCm39)	T543A	probably benign	Het
Ank2	G	C	3: 126,730,096 (GRCm39)		probably benign	Het
Cacna2d4	C	T	6: 119,289,405 (GRCm39)	A813V	probably benign	Het
Cc2d2a	T	A	5: 43,863,442 (GRCm39)	Y684N	possibly damaging	Het
Cenpf	G	A	1: 189,379,144 (GRCm39)	P35L		Het
Chtf18	A	G	17: 25,944,508 (GRCm39)	F281L	probably damaging	Het
Clstn1	T	C	4: 149,716,305 (GRCm39)	V257A	probably damaging	Het
Cnmd	A	T	14: 79,875,406 (GRCm39)	V338E	probably damaging	Het
Col6a3	A	C	1: 90,705,179 (GRCm39)	F2848V	unknown	Het
Corin	T	C	5: 72,473,446 (GRCm39)	S888G	probably damaging	Het
Ctss	A	T	3: 95,457,465 (GRCm39)	S309C	probably null	Het
Dmxl2	G	A	9: 54,290,975 (GRCm39)	Q2492*	probably null	Het
Exoc7	C	T	11: 116,197,465 (GRCm39)	R12Q	possibly damaging	Het
F12	A	G	13: 55,566,265 (GRCm39)	I509T	probably damaging	Het
F13b	A	G	1: 139,434,680 (GRCm39)	K149E	probably benign	Het
Fasn	A	G	11: 120,700,353 (GRCm39)	I2159T	probably benign	Het
Fgfr2	A	T	7: 129,765,719 (GRCm39)	Y831*	probably null	Het
Foxp1	A	T	6: 98,918,595 (GRCm39)	S514R	unknown	Het
Gm11569	A	G	11: 99,689,688 (GRCm39)	S4P	unknown	Het
Gria4	T	C	9: 4,503,740 (GRCm39)		probably benign	Het
Ibtk	A	T	9: 85,572,770 (GRCm39)	D1257E	probably benign	Het
Ip6k2	T	C	9: 108,682,955 (GRCm39)	V355A	probably benign	Het
Kcnd2	G	A	6: 21,217,073 (GRCm39)	R259H	probably damaging	Het
Kcnj2	A	C	11: 110,963,884 (GRCm39)	E425D	probably benign	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lgi2	C	A	5: 52,723,375 (GRCm39)	A25S	probably benign	Het
Lrp2	T	C	2: 69,336,849 (GRCm39)	T1308A	probably benign	Het
Ly6g2	A	G	15: 75,088,552 (GRCm39)	T7A	probably benign	Het
Matn2	A	T	15: 34,426,315 (GRCm39)	N609I	probably benign	Het
Mocs2	T	A	13: 114,957,409 (GRCm39)	S9T	possibly damaging	Het
Nebl	T	A	2: 17,375,300 (GRCm39)	I102F		Het
Nudt19	A	G	7: 35,255,045 (GRCm39)	V62A	probably benign	Het
Or10u4	T	A	10: 129,801,744 (GRCm39)	D269V	possibly damaging	Het
Or12k8	T	A	2: 36,974,855 (GRCm39)	R302W	probably damaging	Het
Or4a68	C	T	2: 89,270,684 (GRCm39)			Het
Or4k42	A	T	2: 111,320,068 (GRCm39)	V145E	probably damaging	Het
Pacrg	A	G	17: 11,058,919 (GRCm39)		probably benign	Het
Pappa2	A	G	1: 158,609,874 (GRCm39)	I1529T	probably damaging	Het
Pcdhga7	A	T	18: 37,849,946 (GRCm39)	H651L	probably benign	Het
Plch2	A	G	4: 155,087,288 (GRCm39)	L321P	probably damaging	Het
Ppargc1b	A	T	18: 61,443,565 (GRCm39)	S549T	possibly damaging	Het
Rtel1	T	A	2: 180,976,767 (GRCm39)	N254K	probably damaging	Het
Rtl1	T	C	12: 109,558,060 (GRCm39)	N1260D	possibly damaging	Het
Samd7	T	A	3: 30,812,531 (GRCm39)	W324R	probably damaging	Het
Serpinb9e	A	G	13: 33,435,605 (GRCm39)	I13V	probably benign	Het
Skint10	A	G	4: 112,568,865 (GRCm39)	L284S	possibly damaging	Het
Slc25a38	T	A	9: 119,951,208 (GRCm39)	I247K	possibly damaging	Het
Smarce1	G	C	11: 99,115,876 (GRCm39)	N48K	possibly damaging	Het
Stmn4	T	G	14: 66,593,032 (GRCm39)		probably benign	Het
Stt3a	G	C	9: 36,653,065 (GRCm39)	T539R	probably damaging	Het
Tab1	G	A	15: 80,042,969 (GRCm39)	V388I	possibly damaging	Het
Tcf12	G	C	9: 71,841,905 (GRCm39)		probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Trp53inp1	T	C	4: 11,164,525 (GRCm39)	F23S	probably damaging	Het
Vmn2r14	A	T	5: 109,368,324 (GRCm39)	L223M	probably benign	Het
Yae1d1	G	A	13: 18,164,329 (GRCm39)	S96L	probably damaging	Het
Zfp142	T	C	1: 74,610,655 (GRCm39)	I1047V	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
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
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'- ACTGGATGCTGAGATGCTGG -3'
(R):5'- CCCTCCTGCAAACAGTGTAAAG -3'

Sequencing Primer
(F):5'- CGCTGCTTGAGGACGAAGAC -3'
(R):5'- CCTTCAAAAAGATGGACAGCG -3'

Posted On

2020-01-23