Mutagenetix > Incidental Mutation

Incidental Mutation 'R2416:Ulk2'

249010

Institutional Source

Beutler Lab

Gene Symbol

Ulk2

Ensembl Gene

ENSMUSG00000004798

Gene Name

unc-51 like kinase 2

Synonyms

A830085I22Rik, Unc51.2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R2416 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

61666475-61745899 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 61672865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 910 (G910R)

Ref Sequence

ENSEMBL: ENSMUSP00000004920 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004920]

AlphaFold

Q9QY01

Predicted Effect

probably damaging
Transcript: ENSMUST00000004920
AA Change: G910R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000004920
Gene: ENSMUSG00000004798
AA Change: G910R

Domain	Start	End	E-Value	Type
S_TKc	9	271	1.1e-93	SMART
low complexity region	274	309	N/A	INTRINSIC
Blast:S_TKc	310	413	9e-28	BLAST
Blast:S_TKc	433	738	1e-29	BLAST
low complexity region	751	766	N/A	INTRINSIC
low complexity region	771	791	N/A	INTRINSIC
Pfam:DUF3543	821	1032	1.8e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129025

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous mutation of this gene results in an increased anxiety-like response in males. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,385,791 (GRCm39)	D58G	probably benign	Het
Atp8a2	T	C	14: 60,162,457 (GRCm39)	R755G	probably damaging	Het
Bard1	G	T	1: 71,113,811 (GRCm39)	T390N	probably benign	Het
Birc6	T	C	17: 74,915,214 (GRCm39)	S1635P	possibly damaging	Het
Cep152	A	T	2: 125,406,092 (GRCm39)	L1480*	probably null	Het
Cryba1	T	A	11: 77,611,726 (GRCm39)	I116F	probably damaging	Het
Cttnbp2	A	G	6: 18,448,285 (GRCm39)	S125P	probably damaging	Het
Cyp2b13	A	G	7: 25,795,246 (GRCm39)	*492W	probably null	Het
Eif3m	G	T	2: 104,844,178 (GRCm39)	P76T	probably benign	Het
Eya1	A	G	1: 14,340,927 (GRCm39)		probably null	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Fat1	T	C	8: 45,479,420 (GRCm39)	I2822T	probably damaging	Het
Glyat	T	A	19: 12,628,618 (GRCm39)	S138T	possibly damaging	Het
Gpr160	A	G	3: 30,950,158 (GRCm39)	T77A	probably benign	Het
Hdac1-ps	G	T	17: 78,799,945 (GRCm39)	W312L	probably damaging	Het
Krt19	T	C	11: 100,036,433 (GRCm39)	I85V	probably benign	Het
Mbtps1	A	G	8: 120,265,656 (GRCm39)	I297T	probably damaging	Het
Park7	A	G	4: 150,992,858 (GRCm39)	S3P	probably benign	Het
Rtel1	C	T	2: 180,982,324 (GRCm39)	T358I	possibly damaging	Het
Slc11a1	T	C	1: 74,422,803 (GRCm39)	L311P	probably damaging	Het
Zdhhc14	G	A	17: 5,803,283 (GRCm39)	R462H	probably benign	Het
Zfp382	A	G	7: 29,833,828 (GRCm39)	Y493C	probably damaging	Het

Other mutations in Ulk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01599:Ulk2	APN	11	61,682,262 (GRCm39)	nonsense	probably null
IGL02044:Ulk2	APN	11	61,672,465 (GRCm39)	missense	probably damaging	1.00
IGL02185:Ulk2	APN	11	61,672,886 (GRCm39)	missense	probably damaging	1.00
IGL03036:Ulk2	APN	11	61,725,660 (GRCm39)	missense	probably damaging	1.00
BB007:Ulk2	UTSW	11	61,682,258 (GRCm39)	critical splice donor site	probably null
BB009:Ulk2	UTSW	11	61,698,916 (GRCm39)	missense	probably benign
BB017:Ulk2	UTSW	11	61,682,258 (GRCm39)	critical splice donor site	probably null
BB019:Ulk2	UTSW	11	61,698,916 (GRCm39)	missense	probably benign
R0207:Ulk2	UTSW	11	61,668,611 (GRCm39)	missense	probably benign	0.42
R0362:Ulk2	UTSW	11	61,678,412 (GRCm39)	missense	probably benign
R0657:Ulk2	UTSW	11	61,698,880 (GRCm39)	splice site	probably benign
R1076:Ulk2	UTSW	11	61,710,135 (GRCm39)	missense	probably damaging	1.00
R1144:Ulk2	UTSW	11	61,690,886 (GRCm39)	missense	possibly damaging	0.80
R1573:Ulk2	UTSW	11	61,670,581 (GRCm39)	missense	probably damaging	1.00
R1583:Ulk2	UTSW	11	61,674,371 (GRCm39)	missense	possibly damaging	0.95
R1619:Ulk2	UTSW	11	61,672,572 (GRCm39)	missense	probably damaging	1.00
R1757:Ulk2	UTSW	11	61,732,165 (GRCm39)	splice site	probably benign
R1845:Ulk2	UTSW	11	61,703,564 (GRCm39)	missense	probably benign	0.04
R1883:Ulk2	UTSW	11	61,721,438 (GRCm39)	missense	probably damaging	1.00
R1966:Ulk2	UTSW	11	61,710,297 (GRCm39)	splice site	probably null
R2177:Ulk2	UTSW	11	61,682,335 (GRCm39)	missense	probably benign	0.01
R2509:Ulk2	UTSW	11	61,678,340 (GRCm39)	missense	probably benign	0.00
R2847:Ulk2	UTSW	11	61,715,555 (GRCm39)	critical splice acceptor site	probably null
R4736:Ulk2	UTSW	11	61,724,261 (GRCm39)	missense	probably damaging	1.00
R4997:Ulk2	UTSW	11	61,689,982 (GRCm39)	missense	probably benign	0.00
R5081:Ulk2	UTSW	11	61,694,488 (GRCm39)	missense	probably damaging	1.00
R5190:Ulk2	UTSW	11	61,672,537 (GRCm39)	missense	probably benign
R5346:Ulk2	UTSW	11	61,725,740 (GRCm39)	missense	probably damaging	1.00
R5348:Ulk2	UTSW	11	61,674,439 (GRCm39)	missense	probably benign
R5520:Ulk2	UTSW	11	61,698,970 (GRCm39)	missense	probably damaging	1.00
R5954:Ulk2	UTSW	11	61,694,622 (GRCm39)	splice site	probably benign
R6153:Ulk2	UTSW	11	61,672,572 (GRCm39)	missense	probably damaging	1.00
R6223:Ulk2	UTSW	11	61,678,330 (GRCm39)	nonsense	probably null
R7204:Ulk2	UTSW	11	61,674,457 (GRCm39)	missense	probably benign	0.11
R7205:Ulk2	UTSW	11	61,725,657 (GRCm39)	missense	possibly damaging	0.84
R7259:Ulk2	UTSW	11	61,672,909 (GRCm39)	missense	probably damaging	1.00
R7353:Ulk2	UTSW	11	61,710,174 (GRCm39)	missense	probably damaging	1.00
R7734:Ulk2	UTSW	11	61,744,127 (GRCm39)	nonsense	probably null
R7797:Ulk2	UTSW	11	61,672,928 (GRCm39)	missense	probably benign	0.06
R7808:Ulk2	UTSW	11	61,745,378 (GRCm39)	missense	probably damaging	1.00
R7930:Ulk2	UTSW	11	61,682,258 (GRCm39)	critical splice donor site	probably null
R7932:Ulk2	UTSW	11	61,698,916 (GRCm39)	missense	probably benign
R8882:Ulk2	UTSW	11	61,698,887 (GRCm39)	critical splice donor site	probably null
R8909:Ulk2	UTSW	11	61,690,380 (GRCm39)	missense	probably benign
R9704:Ulk2	UTSW	11	61,716,694 (GRCm39)	missense	probably damaging	1.00
X0028:Ulk2	UTSW	11	61,690,394 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGTGACATGTACCTTTCCCCG -3'
(R):5'- AAGCTGTTTGGATGGTAGCC -3'

Sequencing Primer
(F):5'- GAGAGTGACACTACATGCTCACTG -3'
(R):5'- AGCCTGATATTTAGCATGCTGAGTC -3'

Posted On

2014-11-12