Mutagenetix > Incidental Mutation

Incidental Mutation 'R0352:Cux2'

65381

Institutional Source

Beutler Lab

Gene Symbol

Cux2

Ensembl Gene

ENSMUSG00000042589

Gene Name

cut-like homeobox 2

Synonyms

1700051K22Rik, ENSMUSG00000072641, Cutl2, Cux2, Cux-2

MMRRC Submission

038558-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.383) question?

Stock #

R0352 (G1)

Quality Score

155

Status

Validated

Chromosome

Chromosomal Location

121996025-122188522 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 122022802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000130302 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086317] [ENSMUST00000111752] [ENSMUST00000134326] [ENSMUST00000154139] [ENSMUST00000168288]

AlphaFold

P70298

Predicted Effect

probably benign
Transcript: ENSMUST00000086317

SMART Domains

Protein: ENSMUSP00000083497
Gene: ENSMUSG00000042589

Domain	Start	End	E-Value	Type
coiled coil region	133	214	N/A	INTRINSIC
coiled coil region	235	311	N/A	INTRINSIC
low complexity region	373	394	N/A	INTRINSIC
low complexity region	397	408	N/A	INTRINSIC
low complexity region	459	474	N/A	INTRINSIC
CUT	484	569	7.62e-34	SMART
coiled coil region	626	655	N/A	INTRINSIC
low complexity region	688	696	N/A	INTRINSIC
low complexity region	740	757	N/A	INTRINSIC
CUT	829	917	6.52e-42	SMART
low complexity region	965	976	N/A	INTRINSIC
CUT	984	1070	1.12e-40	SMART
HOX	1113	1175	7.54e-13	SMART
low complexity region	1318	1332	N/A	INTRINSIC
low complexity region	1351	1370	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111752

SMART Domains

Protein: ENSMUSP00000107381
Gene: ENSMUSG00000042589

Domain	Start	End	E-Value	Type
coiled coil region	133	214	N/A	INTRINSIC
coiled coil region	235	311	N/A	INTRINSIC
low complexity region	373	394	N/A	INTRINSIC
low complexity region	397	408	N/A	INTRINSIC
low complexity region	459	474	N/A	INTRINSIC
CUT	484	569	7.62e-34	SMART
coiled coil region	626	655	N/A	INTRINSIC
low complexity region	688	696	N/A	INTRINSIC
low complexity region	740	757	N/A	INTRINSIC
CUT	829	917	6.52e-42	SMART
low complexity region	965	976	N/A	INTRINSIC
CUT	984	1070	1.12e-40	SMART
HOX	1113	1175	7.54e-13	SMART
low complexity region	1318	1332	N/A	INTRINSIC
low complexity region	1351	1370	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133760

Predicted Effect

probably benign
Transcript: ENSMUST00000134326

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144069

Predicted Effect

probably benign
Transcript: ENSMUST00000154139

SMART Domains

Protein: ENSMUSP00000114948
Gene: ENSMUSG00000042589

Domain	Start	End	E-Value	Type
low complexity region	1	27	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168288

SMART Domains

Protein: ENSMUSP00000130302
Gene: ENSMUSG00000042589

Domain	Start	End	E-Value	Type
coiled coil region	133	214	N/A	INTRINSIC
coiled coil region	235	311	N/A	INTRINSIC
low complexity region	373	394	N/A	INTRINSIC
low complexity region	397	408	N/A	INTRINSIC
low complexity region	459	474	N/A	INTRINSIC
CUT	484	569	7.62e-34	SMART
coiled coil region	626	655	N/A	INTRINSIC
low complexity region	688	696	N/A	INTRINSIC
low complexity region	740	757	N/A	INTRINSIC
CUT	829	917	6.52e-42	SMART
low complexity region	965	976	N/A	INTRINSIC
CUT	984	1070	1.12e-40	SMART
HOX	1113	1175	7.54e-13	SMART
low complexity region	1318	1332	N/A	INTRINSIC
low complexity region	1351	1370	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.4%
20x: 90.0%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: This gene is a member of the Cut family of transcription factors that have multiple DNA binding domains and regulate cell proliferation and differentiation. This gene is primarily expressed in nervous tissues where it controls the proliferation of neuronal precursors, and may play a role in organogenesis earlier during embryonic development. Mice lacking the encoded protein exhibit smaller spinal cords with deficits in neural progenitor development as well as in neuroblast and interneuron differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit various neural defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,184,804 (GRCm39)	T64M	possibly damaging	Het
3110040N11Rik	G	T	7: 81,438,208 (GRCm39)	N49K	probably benign	Het
Adrb1	T	A	19: 56,711,293 (GRCm39)	F164I	probably damaging	Het
Aplf	C	T	6: 87,630,866 (GRCm39)	V190I	probably benign	Het
Aqr	A	G	2: 114,000,533 (GRCm39)	Y50H	probably damaging	Het
Arfgef3	A	C	10: 18,537,135 (GRCm39)	I182R	probably benign	Het
Cacna1b	G	A	2: 24,515,244 (GRCm39)		probably benign	Het
Casp9	A	G	4: 141,532,841 (GRCm39)	T246A	probably damaging	Het
Clcn6	A	G	4: 148,099,063 (GRCm39)	S427P	probably damaging	Het
Cnga1	T	C	5: 72,761,846 (GRCm39)	N556S	possibly damaging	Het
Cntnap2	G	A	6: 45,969,018 (GRCm39)		probably null	Het
Col11a2	T	G	17: 34,261,501 (GRCm39)	V120G	probably benign	Het
Dmrt2	T	C	19: 25,656,026 (GRCm39)	S542P	probably damaging	Het
Dnah7b	A	G	1: 46,316,286 (GRCm39)	H3133R	probably damaging	Het
Drosha	G	A	15: 12,837,374 (GRCm39)	R286Q	unknown	Het
Eipr1	A	G	12: 28,816,784 (GRCm39)	D47G	probably damaging	Het
Fras1	T	G	5: 96,874,399 (GRCm39)	Y2275D	probably damaging	Het
Grm4	C	T	17: 27,670,865 (GRCm39)		probably benign	Het
Hebp1	A	G	6: 135,129,918 (GRCm39)	V100A	possibly damaging	Het
Hivep2	G	A	10: 14,019,039 (GRCm39)	V1937I	possibly damaging	Het
Hs3st6	T	C	17: 24,977,168 (GRCm39)	V216A	probably damaging	Het
Hsd17b4	T	C	18: 50,324,851 (GRCm39)	I688T	probably benign	Het
Hydin	T	C	8: 111,296,533 (GRCm39)		probably null	Het
Iws1	A	G	18: 32,217,258 (GRCm39)	E426G	probably damaging	Het
Klrb1f	T	C	6: 129,030,680 (GRCm39)	S64P	probably damaging	Het
Lacc1	C	T	14: 77,272,629 (GRCm39)	G56R	probably damaging	Het
Lcmt2	A	G	2: 120,969,377 (GRCm39)	S569P	probably benign	Het
Lipm	C	T	19: 34,090,275 (GRCm39)		probably benign	Het
Lum	A	G	10: 97,404,471 (GRCm39)	H122R	probably damaging	Het
Magi2	A	G	5: 20,270,664 (GRCm39)	Y15C	probably damaging	Het
Mal	A	T	2: 127,482,286 (GRCm39)	I39N	probably damaging	Het
Mgme1	A	G	2: 144,118,319 (GRCm39)	H197R	probably benign	Het
Mmrn1	A	T	6: 60,921,955 (GRCm39)	K137N	probably benign	Het
Myh3	T	A	11: 66,981,254 (GRCm39)	C706S	possibly damaging	Het
Myo18b	A	T	5: 113,022,389 (GRCm39)		probably benign	Het
Myom1	A	G	17: 71,352,744 (GRCm39)	E356G	possibly damaging	Het
Nfib	A	G	4: 82,422,954 (GRCm39)		probably benign	Het
Npc1l1	T	C	11: 6,173,076 (GRCm39)	M788V	probably benign	Het
Or9a2	C	T	6: 41,749,058 (GRCm39)	M58I	probably damaging	Het
Pdha2	A	G	3: 140,917,457 (GRCm39)	V17A	probably benign	Het
Pgap1	A	T	1: 54,525,617 (GRCm39)		probably benign	Het
Polr1a	G	T	6: 71,897,747 (GRCm39)		probably benign	Het
Ppp1r16a	C	T	15: 76,574,999 (GRCm39)		probably benign	Het
Pramel20	A	T	4: 143,297,878 (GRCm39)		probably benign	Het
Pramel21	A	T	4: 143,342,559 (GRCm39)	D222V	possibly damaging	Het
Prmt2	A	T	10: 76,044,337 (GRCm39)	V405D	possibly damaging	Het
Psg26	T	A	7: 18,209,181 (GRCm39)	Y409F	probably benign	Het
Psme3ip1	A	G	8: 95,314,639 (GRCm39)	F73S	probably damaging	Het
Ptges	G	T	2: 30,793,144 (GRCm39)	Y29*	probably null	Het
Ptrhd1	A	G	12: 4,286,399 (GRCm39)	T97A	probably benign	Het
Ripk3	T	A	14: 56,024,200 (GRCm39)		probably benign	Het
Rnf114	A	T	2: 167,353,136 (GRCm39)	I136F	probably benign	Het
Serinc5	A	G	13: 92,844,497 (GRCm39)		probably null	Het
Slc17a3	C	T	13: 24,039,841 (GRCm39)	S293F	probably damaging	Het
Slc23a2	C	A	2: 131,902,716 (GRCm39)	M495I	probably benign	Het
Slc52a3	T	A	2: 151,849,433 (GRCm39)	L360*	probably null	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Syt5	A	G	7: 4,544,170 (GRCm39)	V290A	probably benign	Het
Szt2	G	A	4: 118,239,790 (GRCm39)	A1931V	unknown	Het
Tasp1	A	G	2: 139,793,378 (GRCm39)		probably null	Het
Tcp10a	C	A	17: 7,593,805 (GRCm39)	D43E	probably damaging	Het
Tnfsf11	A	T	14: 78,516,408 (GRCm39)	Y187N	probably benign	Het
Tppp2	T	A	14: 52,156,807 (GRCm39)	N61K	possibly damaging	Het
Wwtr1	A	T	3: 57,482,548 (GRCm39)	W100R	probably damaging	Het
Zfp623	A	G	15: 75,820,433 (GRCm39)	D463G	probably benign	Het
Zfp990	A	G	4: 145,263,174 (GRCm39)	I57M	probably damaging	Het
Zmat5	G	A	11: 4,672,413 (GRCm39)	C10Y	probably damaging	Het

Other mutations in Cux2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Cux2	APN	5	122,006,601 (GRCm39)	missense	possibly damaging	0.92
IGL00917:Cux2	APN	5	122,007,168 (GRCm39)	missense	probably null	0.05
IGL00979:Cux2	APN	5	122,011,777 (GRCm39)	missense	probably damaging	0.98
IGL01069:Cux2	APN	5	122,005,414 (GRCm39)	missense	possibly damaging	0.84
IGL01303:Cux2	APN	5	122,003,991 (GRCm39)	missense	probably benign	0.03
IGL01583:Cux2	APN	5	122,012,170 (GRCm39)	missense	probably damaging	0.98
IGL01762:Cux2	APN	5	122,011,208 (GRCm39)	missense	probably damaging	1.00
IGL02508:Cux2	APN	5	121,998,885 (GRCm39)	missense	possibly damaging	0.93
R0333:Cux2	UTSW	5	121,998,671 (GRCm39)	missense	probably benign	0.04
R0443:Cux2	UTSW	5	122,025,500 (GRCm39)	missense	possibly damaging	0.66
R1853:Cux2	UTSW	5	122,007,184 (GRCm39)	missense	possibly damaging	0.95
R2011:Cux2	UTSW	5	121,999,389 (GRCm39)	missense	probably benign	0.21
R2057:Cux2	UTSW	5	122,007,567 (GRCm39)	missense	probably benign	0.02
R2165:Cux2	UTSW	5	122,025,540 (GRCm39)	missense	possibly damaging	0.78
R3964:Cux2	UTSW	5	122,025,539 (GRCm39)	nonsense	probably null
R4182:Cux2	UTSW	5	122,006,555 (GRCm39)	missense	probably damaging	1.00
R4579:Cux2	UTSW	5	121,998,716 (GRCm39)	missense	probably benign	0.01
R4655:Cux2	UTSW	5	122,023,997 (GRCm39)	missense	possibly damaging	0.95
R4673:Cux2	UTSW	5	122,025,539 (GRCm39)	nonsense	probably null
R4697:Cux2	UTSW	5	122,011,816 (GRCm39)	missense	probably damaging	1.00
R4927:Cux2	UTSW	5	122,015,152 (GRCm39)	missense	probably benign	0.13
R5348:Cux2	UTSW	5	122,004,041 (GRCm39)	missense	probably damaging	0.99
R6208:Cux2	UTSW	5	121,998,885 (GRCm39)	missense	possibly damaging	0.93
R6500:Cux2	UTSW	5	122,002,789 (GRCm39)	missense	probably benign	0.03
R6661:Cux2	UTSW	5	122,007,360 (GRCm39)	missense	probably benign	0.04
R6986:Cux2	UTSW	5	122,006,642 (GRCm39)	missense	possibly damaging	0.84
R7296:Cux2	UTSW	5	121,999,319 (GRCm39)	missense	probably benign	0.25
R7561:Cux2	UTSW	5	122,017,931 (GRCm39)	missense	probably benign	0.31
R7702:Cux2	UTSW	5	122,006,648 (GRCm39)	missense	possibly damaging	0.70
R7705:Cux2	UTSW	5	122,007,736 (GRCm39)	missense	probably benign	0.13
R7791:Cux2	UTSW	5	122,005,162 (GRCm39)	missense	probably benign	0.10
R7998:Cux2	UTSW	5	122,006,648 (GRCm39)	missense	possibly damaging	0.70
R8081:Cux2	UTSW	5	122,007,519 (GRCm39)	missense	probably benign	0.13
R8096:Cux2	UTSW	5	122,007,160 (GRCm39)	missense	possibly damaging	0.70
R8191:Cux2	UTSW	5	122,012,217 (GRCm39)	missense	probably benign	0.31
R8794:Cux2	UTSW	5	122,007,306 (GRCm39)	missense	probably benign	0.31
R8957:Cux2	UTSW	5	121,999,011 (GRCm39)	missense	probably benign	0.36
R9601:Cux2	UTSW	5	122,025,461 (GRCm39)	missense	possibly damaging	0.85
R9749:Cux2	UTSW	5	122,007,780 (GRCm39)	missense	possibly damaging	0.95
R9765:Cux2	UTSW	5	122,007,195 (GRCm39)	missense	probably benign	0.00
X0027:Cux2	UTSW	5	122,022,814 (GRCm39)	missense	probably benign	0.13
Z1176:Cux2	UTSW	5	122,023,997 (GRCm39)	missense	probably benign	0.02
Z1176:Cux2	UTSW	5	122,011,876 (GRCm39)	nonsense	probably null
Z1177:Cux2	UTSW	5	122,015,192 (GRCm39)	missense	probably benign	0.13
Z1177:Cux2	UTSW	5	122,011,743 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTTAGTGCATGGCTGTCAAAGG -3'
(R):5'- TAACTTTCCTCGCAAGGGCTCCTG -3'

Sequencing Primer
(F):5'- CAAAGGTTTGCCCCATTTGG -3'
(R):5'- CTCCTGAGCGTCCAAGC -3'

Posted On

2013-08-08