Mutagenetix > Incidental Mutation

Incidental Mutation 'R4697:Cux2'

355765

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

041947-MU

Accession Numbers

Essential gene?

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

Stock #

R4697 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

121996025-122188522 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122011816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 540 (T540A)

Ref Sequence

ENSEMBL: ENSMUSP00000130302 (fasta)

Gene Model

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

AlphaFold

P70298

Predicted Effect

probably damaging
Transcript: ENSMUST00000086317
AA Change: T540A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083497
Gene: ENSMUSG00000042589
AA Change: T540A

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 damaging
Transcript: ENSMUST00000111752
AA Change: T540A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107381
Gene: ENSMUSG00000042589
AA Change: T540A

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: ENSMUST00000156942

SMART Domains

Protein: ENSMUSP00000114239
Gene: ENSMUSG00000042589

Domain	Start	End	E-Value	Type
low complexity region	25	40	N/A	INTRINSIC
CUT	50	135	7.62e-34	SMART
low complexity region	152	162	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000168288
AA Change: T540A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130302
Gene: ENSMUSG00000042589
AA Change: T540A

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

Meta Mutation Damage Score

0.3211

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (75/78)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,615,243 (GRCm39)	M1T	probably null	Het
Aatf	T	A	11: 84,339,964 (GRCm39)	D449V	probably damaging	Het
Acbd3	T	A	1: 180,549,509 (GRCm39)		probably benign	Het
Bicc1	T	A	10: 70,789,314 (GRCm39)	I366F	possibly damaging	Het
Ccdc74a	T	C	16: 17,467,613 (GRCm39)	S184P	possibly damaging	Het
Cntn4	T	C	6: 106,502,446 (GRCm39)	V401A	probably damaging	Het
Disp2	G	T	2: 118,622,165 (GRCm39)	E966*	probably null	Het
Dpp7	A	G	2: 25,244,931 (GRCm39)	Y209H	probably benign	Het
Dstyk	T	A	1: 132,377,225 (GRCm39)	F277Y	probably damaging	Het
Dtx1	A	T	5: 120,832,473 (GRCm39)		probably null	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Ednra	T	C	8: 78,391,624 (GRCm39)	H422R	probably benign	Het
Erlec1	T	A	11: 30,902,640 (GRCm39)	I67F	probably benign	Het
Fam161b	G	A	12: 84,395,332 (GRCm39)		probably benign	Het
Gata5	A	T	2: 179,969,172 (GRCm39)	C345*	probably null	Het
Glmp	T	C	3: 88,235,581 (GRCm39)	V47A	probably damaging	Het
Gm9762	T	A	3: 78,873,857 (GRCm39)		noncoding transcript	Het
Gnas	A	T	2: 174,139,873 (GRCm39)	D14V	probably damaging	Het
Gnl3	T	C	14: 30,739,286 (GRCm39)	S53G	probably damaging	Het
Grhl3	C	T	4: 135,275,777 (GRCm39)	V527M	probably damaging	Het
Hoxd10	T	A	2: 74,524,531 (GRCm39)	L281*	probably null	Het
Kif16b	T	G	2: 142,532,614 (GRCm39)	Y1175S	probably benign	Het
Kif2b	A	G	11: 91,467,672 (GRCm39)	S204P	probably benign	Het
Klhl40	T	A	9: 121,607,800 (GRCm39)	I320N	probably damaging	Het
Ksr2	G	A	5: 117,846,212 (GRCm39)	R693Q	probably damaging	Het
Mis12	A	G	11: 70,916,152 (GRCm39)	K62E	possibly damaging	Het
Mlc1	A	G	15: 88,858,980 (GRCm39)	C102R	probably damaging	Het
Muc5b	T	C	7: 141,411,098 (GRCm39)	I1348T	unknown	Het
Myh7b	A	G	2: 155,471,242 (GRCm39)	E1130G	probably damaging	Het
Nat8f4	T	C	6: 85,878,368 (GRCm39)	T52A	probably benign	Het
Nxpe2	C	A	9: 48,231,821 (GRCm39)	V379L	probably benign	Het
Or10ad1c	G	A	15: 98,084,749 (GRCm39)	R310W	probably damaging	Het
Or4c1	T	A	2: 89,133,247 (GRCm39)	S230C	probably damaging	Het
Or4c1	C	A	2: 89,133,246 (GRCm39)	S230I	possibly damaging	Het
Or5b111	A	T	19: 13,291,081 (GRCm39)	D189E	probably benign	Het
Or5b12	C	T	19: 12,897,298 (GRCm39)	C125Y	probably damaging	Het
Pcdhga7	A	T	18: 37,850,261 (GRCm39)	Y756F	probably damaging	Het
Pcsk6	T	A	7: 65,608,989 (GRCm39)	Y284N	probably damaging	Het
Pdcd11	T	C	19: 47,114,786 (GRCm39)	V1367A	possibly damaging	Het
Postn	T	A	3: 54,282,492 (GRCm39)	N484K	probably damaging	Het
Prkd3	C	T	17: 79,268,600 (GRCm39)	V572I	probably benign	Het
Qser1	T	C	2: 104,617,528 (GRCm39)	S1005G	probably benign	Het
Radil	G	T	5: 142,472,556 (GRCm39)	D951E	probably benign	Het
Ripk1	C	T	13: 34,211,925 (GRCm39)	R352*	probably null	Het
Sacs	T	C	14: 61,450,196 (GRCm39)	F4081L	probably benign	Het
Sbf1	A	G	15: 89,199,288 (GRCm39)	V11A	possibly damaging	Het
Sgip1	T	A	4: 102,791,784 (GRCm39)	F536I	probably damaging	Het
Slc45a1	A	G	4: 150,722,741 (GRCm39)	L381P	probably damaging	Het
Smarcad1	C	T	6: 65,029,625 (GRCm39)	P71L	probably benign	Het
Spns1	T	A	7: 125,976,209 (GRCm39)	D14V	probably damaging	Het
Sv2c	T	A	13: 96,122,526 (GRCm39)	I417F	possibly damaging	Het
Tas2r113	T	A	6: 132,870,479 (GRCm39)	M169K	probably benign	Het
Tgm1	A	T	14: 55,943,138 (GRCm39)	N567K	probably benign	Het
Thoc2l	A	G	5: 104,670,106 (GRCm39)	K1543E	probably benign	Het
Tln2	C	T	9: 67,302,743 (GRCm39)	R76Q	probably damaging	Het
Trpm6	T	C	19: 18,831,155 (GRCm39)	V1340A	probably benign	Het
Tspan18	A	T	2: 93,142,375 (GRCm39)		probably null	Het
Txndc11	C	T	16: 10,902,178 (GRCm39)	V679I	probably damaging	Het
Usf1	G	T	1: 171,244,532 (GRCm39)	G144V	possibly damaging	Het
Vmn1r59	T	C	7: 5,457,451 (GRCm39)	Y103C	probably damaging	Het
Vmn2r23	A	T	6: 123,718,785 (GRCm39)	I713F	probably damaging	Het
Vmn2r79	A	T	7: 86,687,168 (GRCm39)	I850F	probably damaging	Het
Vps35l	T	A	7: 118,390,671 (GRCm39)	I455N	probably damaging	Het
Wdr90	C	T	17: 26,074,337 (GRCm39)	R676H	probably benign	Het
Zfp867	G	A	11: 59,354,487 (GRCm39)	R281W	probably damaging	Het
Zfp939	T	C	7: 39,122,366 (GRCm39)		noncoding transcript	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
R0352:Cux2	UTSW	5	122,022,802 (GRCm39)	splice site	probably benign
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
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'- GAGTCTGTCCCTCGAAATAGG -3'
(R):5'- CCAAACATATGATGGGCCCAG -3'

Sequencing Primer
(F):5'- GGAAACCAAGGCACAGGGTG -3'
(R):5'- ACTTTCTACGGTGGTGCCAAG -3'

Posted On

2015-10-21