Mutagenetix > Incidental Mutation

Incidental Mutation 'R9749:Cux2'

732396

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

Accession Numbers

Essential gene?

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

Stock #

R9749 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121996025-122188522 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122007780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 627 (S627L)

Ref Sequence

ENSEMBL: ENSMUSP00000083497 (fasta)

Gene Model

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

AlphaFold

P70298

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086317
AA Change: S627L

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000083497
Gene: ENSMUSG00000042589
AA Change: S627L

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

possibly damaging
Transcript: ENSMUST00000111752
AA Change: S627L

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107381
Gene: ENSMUSG00000042589
AA Change: S627L

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

possibly damaging
Transcript: ENSMUST00000168288
AA Change: S627L

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000130302
Gene: ENSMUSG00000042589
AA Change: S627L

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.3%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	A	11: 72,080,521 (GRCm39)	I382F	possibly damaging	Het
Adamtsl3	A	G	7: 82,099,394 (GRCm39)	S183G	probably benign	Het
Adamtsl4	T	C	3: 95,591,457 (GRCm39)	H170R	probably benign	Het
Adcy2	T	C	13: 68,773,974 (GRCm39)	D1023G	probably damaging	Het
Agrn	C	A	4: 156,258,114 (GRCm39)	V1083F	probably benign	Het
Arhgap21	T	C	2: 20,854,026 (GRCm39)	T1789A	probably benign	Het
Atr	T	C	9: 95,819,703 (GRCm39)		probably null	Het
Bcl2l13	T	C	6: 120,842,633 (GRCm39)	S109P	possibly damaging	Het
Bik	A	T	15: 83,425,540 (GRCm39)	T14S	possibly damaging	Het
Car7	A	G	8: 105,275,054 (GRCm39)	D164G	probably damaging	Het
Cat	T	A	2: 103,285,445 (GRCm39)	K499M	probably benign	Het
Ccar2	T	A	14: 70,388,728 (GRCm39)	Q161L	probably benign	Het
Cd109	T	G	9: 78,592,166 (GRCm39)	V760G	probably damaging	Het
Cep350	A	T	1: 155,828,985 (GRCm39)	H246Q	probably benign	Het
Cfap91	A	G	16: 38,128,487 (GRCm39)	I496T	probably damaging	Het
Chst13	T	C	6: 90,295,251 (GRCm39)	D54G	probably damaging	Het
Cilk1	T	A	9: 78,060,999 (GRCm39)	V215E	probably damaging	Het
Col4a4	A	G	1: 82,463,353 (GRCm39)	S1046P	unknown	Het
Col6a5	T	C	9: 105,739,190 (GRCm39)	Q2581R	probably damaging	Het
Cox5b-ps	G	A	13: 21,685,515 (GRCm39)	A25V	probably benign	Het
Csmd2	A	T	4: 128,389,921 (GRCm39)	I2219F		Het
Cyp2a22	A	T	7: 26,638,715 (GRCm39)	W24R	probably null	Het
Dhrs7c	A	T	11: 67,702,479 (GRCm39)	T156S	probably damaging	Het
Dnah9	A	G	11: 65,986,202 (GRCm39)	V1144A	probably damaging	Het
Folh1	T	C	7: 86,368,908 (GRCm39)	T740A	probably damaging	Het
Foxo4	G	A	X: 100,301,955 (GRCm39)	S209N	probably benign	Het
Gm10300	A	G	4: 131,802,029 (GRCm39)	T8A	unknown	Het
Gns	T	A	10: 121,214,057 (GRCm39)	I244N	probably benign	Het
Gsdmd	A	G	15: 75,735,411 (GRCm39)	K52E	probably damaging	Het
H1f0	A	G	15: 78,913,217 (GRCm39)	D99G	probably benign	Het
Hapln4	T	C	8: 70,539,724 (GRCm39)	Y252H	probably damaging	Het
Hmcn1	A	C	1: 150,632,339 (GRCm39)	I866S	possibly damaging	Het
Hrnr	C	T	3: 93,231,384 (GRCm39)	R541C	unknown	Het
Igkv4-57-1	A	G	6: 69,521,408 (GRCm39)	I98T	probably damaging	Het
Itih3	T	A	14: 30,641,279 (GRCm39)	D253V	probably damaging	Het
Kansl1l	T	A	1: 66,760,970 (GRCm39)	E869D	probably damaging	Het
Kif13a	T	C	13: 46,914,227 (GRCm39)	Q502R	probably damaging	Het
Lama5	T	A	2: 179,825,433 (GRCm39)	Q2447L	probably benign	Het
Lcn6	A	T	2: 25,570,034 (GRCm39)	M1L	probably benign	Het
Lrrtm1	T	C	6: 77,220,855 (GRCm39)	V104A	probably damaging	Het
Map3k13	T	C	16: 21,740,581 (GRCm39)	L636P	probably benign	Het
Melk	T	A	4: 44,307,067 (GRCm39)	H74Q	possibly damaging	Het
Mixl1	A	T	1: 180,522,311 (GRCm39)	M190K	probably benign	Het
Mttp	A	G	3: 137,830,989 (GRCm39)	S27P	probably damaging	Het
Myh6	T	C	14: 55,190,943 (GRCm39)	I911V	probably damaging	Het
Ncapd3	T	A	9: 26,956,873 (GRCm39)	I262N	probably benign	Het
Ncapg2	C	A	12: 116,411,368 (GRCm39)	S1051*	probably null	Het
Nckap1	G	A	2: 80,401,568 (GRCm39)	Q39*	probably null	Het
Nemp1	A	G	10: 127,524,198 (GRCm39)	D76G	probably benign	Het
Or12e10	A	C	2: 87,640,202 (GRCm39)	K13Q	probably benign	Het
Or2a20	G	A	6: 43,194,258 (GRCm39)	W137*	probably null	Het
Or2l13	A	T	16: 19,306,113 (GRCm39)	H175L	possibly damaging	Het
Or4a2	T	A	2: 89,248,662 (GRCm39)	I32F	possibly damaging	Het
Or8k36-ps1	T	C	2: 86,437,909 (GRCm39)	E2G	probably benign	Het
Osbpl5	C	A	7: 143,249,308 (GRCm39)	V578L	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Rabl3	A	G	16: 37,377,190 (GRCm39)	D49G	possibly damaging	Het
Rngtt	A	G	4: 33,368,618 (GRCm39)	I384V	possibly damaging	Het
Robo1	T	C	16: 72,105,257 (GRCm39)		probably benign	Het
Rtcb	C	A	10: 85,785,453 (GRCm39)	R125L	probably damaging	Het
Rtn4rl2	C	A	2: 84,702,954 (GRCm39)	R206L	probably damaging	Het
Sbk2	A	T	7: 4,960,333 (GRCm39)	I279N	probably benign	Het
Scaf1	A	G	7: 44,656,576 (GRCm39)	S768P	unknown	Het
Slc6a9	A	G	4: 117,721,198 (GRCm39)	H316R	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Tas2r136	G	T	6: 132,755,106 (GRCm39)	T7K	probably damaging	Het
Tbc1d9	T	A	8: 83,968,339 (GRCm39)		probably null	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tmem40	T	C	6: 115,719,306 (GRCm39)	D53G	probably benign	Het
Tram1	A	T	1: 13,640,238 (GRCm39)	V272D	possibly damaging	Het
Trpc4	G	A	3: 54,102,302 (GRCm39)	D67N	probably damaging	Het
Ttc6	A	T	12: 57,701,559 (GRCm39)	T591S	probably benign	Het
Ube2g1	A	T	11: 72,570,199 (GRCm39)	E144V	probably benign	Het
Unc80	A	G	1: 66,544,179 (GRCm39)	D434G	probably damaging	Het
Vmn1r168	C	A	7: 23,240,237 (GRCm39)	N31K	probably damaging	Het
Vmn1r79	A	T	7: 11,910,450 (GRCm39)	T111S	probably damaging	Het
Vmn2r118	C	T	17: 55,915,415 (GRCm39)		probably null	Het
Vps35l	C	A	7: 118,352,107 (GRCm39)	D195E	probably benign	Het
Yy1	A	G	12: 108,772,417 (GRCm39)	D231G	possibly damaging	Het
Zfp748	A	G	13: 67,690,573 (GRCm39)	V229A	probably benign	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
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
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'- GCTTCACGCAGGTCAGGG -3'
(R):5'- GGCTTTGTTTTAACACTGCCTCC -3'

Sequencing Primer
(F):5'- AGGTCAGGGCCCCATTCTG -3'
(R):5'- TAATGCCTGCCTAATATTGCACCAG -3'

Posted On

2022-11-14