Mutagenetix > Incidental Mutation

Incidental Mutation 'R4655:Cux2'

352346

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

041915-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.340) question?

Stock #

R4655 (G1)

Quality Score

171

Status

Not validated

Chromosome

Chromosomal Location

121996025-122188522 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122023997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 92 (T92M)

Ref Sequence

ENSEMBL: ENSMUSP00000114948 (fasta)

Gene Model

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

AlphaFold

P70298

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086317
AA Change: T92M

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000083497
Gene: ENSMUSG00000042589
AA Change: T92M

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: T92M

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107381
Gene: ENSMUSG00000042589
AA Change: T92M

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

possibly damaging
Transcript: ENSMUST00000154139
AA Change: T92M

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114948
Gene: ENSMUSG00000042589
AA Change: T92M

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168288
AA Change: T92M

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130302
Gene: ENSMUSG00000042589
AA Change: T92M

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

96% (79/82)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	G	2: 151,314,778 (GRCm39)	V300A	probably benign	Het
Aadacl4fm2	A	T	4: 144,281,645 (GRCm39)	F382L	probably benign	Het
Abca4	A	G	3: 121,941,147 (GRCm39)	N405S	possibly damaging	Het
Acsl3	A	G	1: 78,668,063 (GRCm39)	T212A	probably damaging	Het
Ahnak	A	G	19: 8,986,065 (GRCm39)	K2450E	probably damaging	Het
Akap9	G	A	5: 4,096,403 (GRCm39)	R2426H	probably benign	Het
Akr1c6	T	C	13: 4,499,428 (GRCm39)	V266A	probably damaging	Het
Ccs	A	G	19: 4,889,232 (GRCm39)	V11A	probably benign	Het
Cdc14a	T	A	3: 116,122,136 (GRCm39)	H228L	probably damaging	Het
Cgn	G	A	3: 94,686,559 (GRCm39)	Q248*	probably null	Het
Cyb5r4	A	G	9: 86,941,482 (GRCm39)	K68E	probably benign	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dnah9	T	C	11: 65,846,558 (GRCm39)	N2918S	probably benign	Het
Dyrk1b	T	C	7: 27,885,176 (GRCm39)	V438A	probably damaging	Het
Eml1	G	A	12: 108,500,972 (GRCm39)	D625N	probably damaging	Het
Eno2	T	C	6: 124,740,889 (GRCm39)		probably null	Het
Ephb3	G	A	16: 21,040,958 (GRCm39)	G672D	probably damaging	Het
Evx1	A	T	6: 52,291,182 (GRCm39)	D118V	probably damaging	Het
Fbxl13	A	G	5: 21,787,037 (GRCm39)	L300S	probably damaging	Het
Fbxo30	T	C	10: 11,166,837 (GRCm39)	F520L	probably damaging	Het
Flt3	G	A	5: 147,286,403 (GRCm39)	P728S	possibly damaging	Het
Gas2l2	T	C	11: 83,314,001 (GRCm39)	E437G	possibly damaging	Het
Gldc	A	T	19: 30,138,102 (GRCm39)		probably benign	Het
Gm18856	T	C	13: 14,140,232 (GRCm39)		probably benign	Het
Gm7358	A	T	17: 14,279,410 (GRCm39)		noncoding transcript	Het
Grifin	A	G	5: 140,550,300 (GRCm39)	V47A	possibly damaging	Het
H3c7	T	C	13: 23,728,923 (GRCm39)	V90A	probably benign	Het
Hddc2	G	T	10: 31,204,016 (GRCm39)		probably benign	Het
Hkdc1	T	A	10: 62,236,242 (GRCm39)	R433S	probably benign	Het
Htt	A	G	5: 35,063,476 (GRCm39)	D2918G	probably benign	Het
Itga2	A	C	13: 115,009,805 (GRCm39)	D383E	probably benign	Het
Itpr1	G	A	6: 108,458,254 (GRCm39)	C2007Y	probably damaging	Het
Krt42	C	A	11: 100,160,671 (GRCm39)	Q9H	probably damaging	Het
Lyrm7	T	C	11: 54,739,434 (GRCm39)	Q72R	probably damaging	Het
Mmp9	A	G	2: 164,793,122 (GRCm39)	S424G	probably benign	Het
Mtr	A	G	13: 12,242,679 (GRCm39)	V457A	probably damaging	Het
Myo15b	T	C	11: 115,781,523 (GRCm39)	L1359P	probably damaging	Het
Neb	A	G	2: 52,117,311 (GRCm39)	L4087P	probably damaging	Het
Npl	T	C	1: 153,391,152 (GRCm39)	D201G	probably damaging	Het
Or1af1	A	G	2: 37,109,885 (GRCm39)	N128S	probably benign	Het
Or8b1c	C	A	9: 38,384,120 (GRCm39)	P26T	probably damaging	Het
Or8k3	A	G	2: 86,059,037 (GRCm39)	S93P	probably benign	Het
Pclo	T	C	5: 14,732,397 (GRCm39)		probably benign	Het
Pdp2	A	G	8: 105,321,168 (GRCm39)	D339G	probably benign	Het
Pfdn6	A	T	17: 34,159,014 (GRCm39)	Y16*	probably null	Het
Pilra	C	T	5: 137,833,588 (GRCm39)		probably null	Het
Prrc2a	A	T	17: 35,374,590 (GRCm39)	N1353K	probably benign	Het
Prss3l	T	A	6: 41,422,984 (GRCm39)	I6F	probably benign	Het
Ptger4	C	A	15: 5,272,545 (GRCm39)	A50S	probably benign	Het
Pus10	T	C	11: 23,622,707 (GRCm39)	V109A	probably benign	Het
Pus3	A	C	9: 35,476,228 (GRCm39)	D39A	probably benign	Het
Rab44	A	G	17: 29,358,168 (GRCm39)	N119D	probably benign	Het
Rasgrp2	T	C	19: 6,454,876 (GRCm39)		probably benign	Het
Rhobtb2	T	A	14: 70,033,438 (GRCm39)	I511F	probably damaging	Het
Sfxn1	C	A	13: 54,246,457 (GRCm39)	A167D	probably benign	Het
Slc12a6	A	G	2: 112,188,111 (GRCm39)		probably null	Het
Smyd4	C	T	11: 75,281,558 (GRCm39)	L344F	probably damaging	Het
Srsf11	A	G	3: 157,728,972 (GRCm39)	V93A	probably benign	Het
Tle1	A	G	4: 72,063,581 (GRCm39)	I224T	possibly damaging	Het
Tmc6	A	T	11: 117,663,868 (GRCm39)	S479R	possibly damaging	Het
Tmprss4	T	C	9: 45,087,702 (GRCm39)	M296V	probably benign	Het
Togaram1	A	G	12: 65,013,894 (GRCm39)	N382D	possibly damaging	Het
Tpcn1	A	G	5: 120,677,322 (GRCm39)	S662P	probably damaging	Het
Tppp	G	T	13: 74,178,983 (GRCm39)	R141S	probably benign	Het
Ttc21a	A	G	9: 119,790,828 (GRCm39)	D858G	possibly damaging	Het
Tuba3a	A	G	6: 125,258,130 (GRCm39)	S287P	possibly damaging	Het
Unc80	T	G	1: 66,710,821 (GRCm39)	S2697A	probably benign	Het
Vmn1r69	A	G	7: 10,314,026 (GRCm39)	V235A	probably benign	Het
Vmn2r26	T	A	6: 124,038,375 (GRCm39)	I650N	probably damaging	Het
Vmn2r53	G	A	7: 12,315,932 (GRCm39)	T629I	possibly damaging	Het
Vmn2r74	T	C	7: 85,610,555 (GRCm39)	T46A	probably benign	Het
Vmn2r84	A	T	10: 130,229,973 (GRCm39)	C46*	probably null	Het
Vps13b	T	C	15: 35,770,835 (GRCm39)	S2093P	probably benign	Het
Wdfy4	T	C	14: 32,711,893 (GRCm39)	R2375G	probably damaging	Het
Wnk2	T	G	13: 49,210,359 (GRCm39)	E1820A	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
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
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'- GCCTCAGAGTCCCTCACCC -3'
(R):5'- GGAACTTTGAGAGCTTGGCTT -3'

Sequencing Primer
(F):5'- AGAGTCCCTCACCCTTTCC -3'
(R):5'- TCAGAAGACTCTAGCCTGTGTCAG -3'

Posted On

2015-10-08