Mutagenetix > Incidental Mutation

Incidental Mutation 'R7749:Hnrnpul2'

597128

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpul2

Ensembl Gene

ENSMUSG00000071659

Gene Name

heterogeneous nuclear ribonucleoprotein U-like 2

Synonyms

1110031M08Rik, Hnrpul2

MMRRC Submission

045805-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.864) question?

Stock #

R7749 (G1)

Quality Score

206.009

Status

Validated

Chromosome

Chromosomal Location

8819401-8834142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8820424 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 48 (V48A)

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 benign
Transcript: ENSMUST00000096753
AA Change: V48A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000094515
Gene: ENSMUSG00000071659
AA Change: V48A

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: 99.7%
20x: 99.2%

Validation Efficiency

99% (66/67)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406M09Rik	A	T	1: 134,390,512	M341L	probably benign	Het
Actr1a	A	T	19: 46,379,747	S254T	probably benign	Het
Adam12	G	A	7: 134,224,813	A22V	unknown	Het
Adarb2	A	G	13: 8,569,739	D87G	possibly damaging	Het
Aldh6a1	A	T	12: 84,442,081	I59N	probably benign	Het
Ankrd50	C	T	3: 38,482,721	C161Y	probably damaging	Het
Ankrd7	A	G	6: 18,879,516		probably null	Het
Anks1	T	A	17: 28,038,141	I707N	probably damaging	Het
Atoh1	A	T	6: 64,729,920	M200L	possibly damaging	Het
Bmp1	C	T	14: 70,492,844	R416H	probably damaging	Het
Caprin1	A	G	2: 103,771,754	S548P	probably benign	Het
Ccdc167	T	A	17: 29,705,273	Y63F	possibly damaging	Het
Cfap99	T	A	5: 34,307,940	D174E	probably benign	Het
Chil3	T	G	3: 106,148,845	N331T	probably benign	Het
Chmp5	T	A	4: 40,949,488	I35N	probably damaging	Het
Cpt1c	A	T	7: 44,962,265	S537T	probably benign	Het
Dctn1	A	T	6: 83,186,141		probably benign	Het
Dhx57	T	A	17: 80,238,858	M1366L	probably benign	Het
Dnah9	T	A	11: 65,911,830	Y3478F	probably damaging	Het
Efna3	A	G	3: 89,316,640	Y81H	probably damaging	Het
Eif4enif1	T	C	11: 3,242,608	V812A	probably damaging	Het
Erg	A	T	16: 95,377,357	I237N	probably benign	Het
Fem1c	G	T	18: 46,524,118	N176K	probably damaging	Het
Fgd4	T	C	16: 16,475,154	Y233C	probably benign	Het
Foxd2	G	A	4: 114,907,812	A337V	unknown	Het
Gsdma2	T	C	11: 98,657,721	L433P	unknown	Het
Hmcn2	C	A	2: 31,453,033		probably null	Het
Hsf1	T	A	15: 76,499,187	S396T	probably benign	Het
Htr5b	G	T	1: 121,527,758	N144K	probably damaging	Het
Igkv9-120	T	C	6: 68,050,188	S29P	probably damaging	Het
Igsf10	T	A	3: 59,329,128	N1211Y	possibly damaging	Het
Kcnh1	A	C	1: 192,277,139	I334L	probably benign	Het
Laptm4b	T	C	15: 34,276,200	I158T	probably benign	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Nav3	T	C	10: 109,703,352	T2063A	probably damaging	Het
Nceh1	T	A	3: 27,207,382	D47E	probably benign	Het
Nckap5	A	G	1: 126,024,646	S1390P	probably damaging	Het
Npepps	T	G	11: 97,267,628	I104L	probably benign	Het
Numb	A	G	12: 83,801,277	S229P	not run	Het
Olfr1156	G	A	2: 87,949,478	H252Y	probably damaging	Het
Olfr1342	T	C	4: 118,690,228	S75G	probably damaging	Het
Olfr1443	A	T	19: 12,680,212	I35F	probably benign	Het
Opn1sw	T	A	6: 29,380,169	I83F	probably benign	Het
Pigg	T	G	5: 108,336,296	C603G	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pkhd1l1	C	A	15: 44,527,737	H1504N	probably benign	Het
Plcd4	A	G	1: 74,565,133	N757D	possibly damaging	Het
Ppia	A	G	11: 6,419,569	T152A	probably benign	Het
Psmd8	G	A	7: 29,178,921		probably null	Het
Pxn	T	A	5: 115,548,516	Y356N	probably benign	Het
Rhoa	G	C	9: 108,336,715	C159S	probably damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rita1	C	T	5: 120,611,441	C69Y	probably benign	Het
Satb1	A	G	17: 51,767,933	S512P	possibly damaging	Het
Sectm1b	A	G	11: 121,054,942	I191T	possibly damaging	Het
Slc22a6	A	G	19: 8,621,896	K297R	possibly damaging	Het
Snrnp48	T	C	13: 38,221,287	Y287H	probably benign	Het
Sntg2	A	T	12: 30,226,911	C381S	probably benign	Het
Syngap1	T	A	17: 26,959,964	M649K	probably damaging	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Thap2	T	C	10: 115,376,384	I79V	probably damaging	Het
Thap7	T	C	16: 17,528,603	N172S	probably benign	Het
Ticrr	A	G	7: 79,679,096	Y661C	possibly damaging	Het
Ttn	T	C	2: 76,776,315	N18084D	probably damaging	Het
Usp48	A	T	4: 137,650,417	K1020M	probably damaging	Het
Vmn2r12	T	C	5: 109,086,054	N764S	probably damaging	Het
Vmn2r91	A	G	17: 18,136,278	I736V	possibly damaging	Het
Wfdc6b	T	A	2: 164,617,419	C134S	probably damaging	Het
Zcchc2	A	T	1: 106,018,273	D481V	probably damaging	Het
Zfp949	G	A	9: 88,569,870	G498R	probably damaging	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
R6824:Hnrnpul2	UTSW	19	8826717	missense	possibly damaging	0.89
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
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'- AGAGTGTGTCGGAAGCTGC -3'
(R):5'- TCCATGGCTGACGTCTCCG -3'

Sequencing Primer
(F):5'- TGTGTCGGAAGCTGCTCCTC -3'
(R):5'- GACGTCTCCGGGGGCTC -3'

Posted On

2019-11-26