Mutagenetix > Incidental Mutation

Incidental Mutation 'R2165:Cux2'

235422

Institutional Source

Beutler Lab

Gene Symbol

Cux2

Ensembl Gene

ENSMUSG00000042589

Gene Name

cut-like homeobox 2

Synonyms

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

MMRRC Submission

040168-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.405) question?

Stock #

R2165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121856366-122050102 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121887477 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 43 (S43P)

Ref Sequence

ENSEMBL: ENSMUSP00000114948 (fasta)

Gene Model

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

AlphaFold

P70298

Predicted Effect

probably benign
Transcript: ENSMUST00000086317
AA Change: S43P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000083497
Gene: ENSMUSG00000042589
AA Change: S43P

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
AA Change: S43P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000107381
Gene: ENSMUSG00000042589
AA Change: S43P

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
AA Change: S43P

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144069

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154139
AA Change: S43P

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114948
Gene: ENSMUSG00000042589
AA Change: S43P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168288
AA Change: S43P

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000130302
Gene: ENSMUSG00000042589
AA Change: S43P

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (71/72)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,112,399	T806A	possibly damaging	Het
Adgre1	T	G	17: 57,419,338	L403R	probably damaging	Het
AF067061	A	T	13: 120,264,097	Q99L	probably damaging	Het
Alox12	A	T	11: 70,242,572		probably null	Het
Ankib1	A	T	5: 3,713,210	D506E	possibly damaging	Het
Ascc3	T	G	10: 50,721,839	Y1268D	probably damaging	Het
Bik	A	G	15: 83,541,423	M42V	probably benign	Het
Bola1	A	T	3: 96,197,201	S26T	probably benign	Het
Bub1	T	C	2: 127,801,281	I1048V	probably benign	Het
Cad	A	G	5: 31,062,220	N621S	probably damaging	Het
Camkv	C	A	9: 107,945,600	N69K	possibly damaging	Het
Ccdc110	T	C	8: 45,942,839	M589T	probably benign	Het
Ccdc154	T	A	17: 25,170,890	V498E	probably damaging	Het
Ccr1l1	A	G	9: 123,977,654	L252P	probably damaging	Het
Cdh1	T	C	8: 106,664,321	C690R	probably damaging	Het
Cfap157	T	G	2: 32,778,163		probably null	Het
Cyb5rl	C	T	4: 107,068,683	P21S	probably damaging	Het
Cyp51	T	G	5: 4,086,594	Q400P	probably damaging	Het
Dnah7b	T	C	1: 46,097,992		probably benign	Het
Ephb4	A	G	5: 137,354,426	I90M	probably benign	Het
Fam13c	A	G	10: 70,542,693	N269S	probably damaging	Het
Fam83c	T	A	2: 155,831,524	Y248F	possibly damaging	Het
Fat2	A	G	11: 55,303,716	F1166L	probably benign	Het
Fem1a	A	G	17: 56,257,686	N260D	probably benign	Het
Fnbp4	T	A	2: 90,767,399		probably null	Het
Fut9	T	A	4: 25,619,733	*360Y	probably null	Het
Fut9	T	A	4: 25,619,734	*360L	probably null	Het
Gm11639	G	A	11: 104,751,862	V1104I	possibly damaging	Het
Gm3727	T	A	14: 7,264,625	Q10L	probably damaging	Het
Gpat2	G	A	2: 127,428,291	V75M	probably damaging	Het
Haspin	A	C	11: 73,136,630	N544K	probably damaging	Het
Havcr1	A	G	11: 46,778,552	N286S	probably benign	Het
Lrp6	A	C	6: 134,459,283	C1307G	probably damaging	Het
Lrrc2	A	C	9: 110,979,577	H294P	possibly damaging	Het
Mon2	A	C	10: 123,042,364		probably null	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mrgprb1	T	C	7: 48,447,322	I281V	probably benign	Het
Muc4	A	G	16: 32,750,476	E118G	probably damaging	Het
Nefh	T	C	11: 4,943,872	D394G	probably damaging	Het
Neurl4	A	G	11: 69,903,221	T168A	probably benign	Het
Olfr347	T	A	2: 36,734,701	C127S	probably damaging	Het
Olfr642	T	C	7: 104,049,638	T239A	probably benign	Het
Olfr982	A	G	9: 40,074,915	N207D	possibly damaging	Het
Olfr987	A	T	2: 85,331,102	N265K	probably benign	Het
Oxsr1	A	C	9: 119,294,432	M92R	probably damaging	Het
Pde8a	T	C	7: 81,295,768		probably null	Het
Pex5l	T	A	3: 32,953,132		probably null	Het
Pik3r4	T	A	9: 105,672,785	M1025K	probably benign	Het
Plch1	C	T	3: 63,698,482	E1325K	probably benign	Het
Plin2	A	T	4: 86,668,432	V54E	probably damaging	Het
Pqlc3	G	A	12: 16,989,839	L192F	probably damaging	Het
Prss47	A	T	13: 65,045,073	I298N	probably damaging	Het
Prune2	A	G	19: 17,120,182	R1017G	probably benign	Het
Psg19	T	A	7: 18,796,986	Y81F	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rrnad1	A	T	3: 87,927,053		probably null	Het
Serpinb1a	T	C	13: 32,850,414		probably benign	Het
Sh3pxd2a	A	T	19: 47,278,355	V265E	probably damaging	Het
Slc22a17	A	T	14: 54,908,825	Y337*	probably null	Het
Slc25a27	A	G	17: 43,657,772	V138A	probably benign	Het
Slc4a2	A	G	5: 24,431,316	Y220C	probably damaging	Het
Stab1	A	T	14: 31,168,435	S20T	probably benign	Het
Thsd1	G	T	8: 22,238,522		probably benign	Het
Tmem204	G	A	17: 25,080,592		probably benign	Het
Tom1l1	A	G	11: 90,649,895		probably benign	Het
Toporsl	T	A	4: 52,612,072	F655Y	possibly damaging	Het
Vmn2r98	A	G	17: 19,081,291	K852E	unknown	Het
Wdpcp	T	G	11: 21,691,884	L174R	probably damaging	Het
Zbbx	G	A	3: 75,112,107	P99S	probably damaging	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	Het
Zfp600	A	T	4: 146,196,918	R719*	probably null	Het
Zfp697	C	A	3: 98,428,014	A365E	unknown	Het
Zfp957	A	C	14: 79,213,613	S249A	probably benign	Het

Other mutations in Cux2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00424:Cux2	APN	5	121868538	missense	possibly damaging	0.92
IGL00917:Cux2	APN	5	121869105	missense	probably null	0.05
IGL00979:Cux2	APN	5	121873714	missense	probably damaging	0.98
IGL01069:Cux2	APN	5	121867351	missense	possibly damaging	0.84
IGL01303:Cux2	APN	5	121865928	missense	probably benign	0.03
IGL01583:Cux2	APN	5	121874107	missense	probably damaging	0.98
IGL01762:Cux2	APN	5	121873145	missense	probably damaging	1.00
IGL02508:Cux2	APN	5	121860822	missense	possibly damaging	0.93
R0333:Cux2	UTSW	5	121860608	missense	probably benign	0.04
R0352:Cux2	UTSW	5	121884739	splice site	probably benign
R0443:Cux2	UTSW	5	121887437	missense	possibly damaging	0.66
R1853:Cux2	UTSW	5	121869121	missense	possibly damaging	0.95
R2011:Cux2	UTSW	5	121861326	missense	probably benign	0.21
R2057:Cux2	UTSW	5	121869504	missense	probably benign	0.02
R3964:Cux2	UTSW	5	121887476	nonsense	probably null
R4182:Cux2	UTSW	5	121868492	missense	probably damaging	1.00
R4579:Cux2	UTSW	5	121860653	missense	probably benign	0.01
R4655:Cux2	UTSW	5	121885934	missense	possibly damaging	0.95
R4673:Cux2	UTSW	5	121887476	nonsense	probably null
R4697:Cux2	UTSW	5	121873753	missense	probably damaging	1.00
R4927:Cux2	UTSW	5	121877089	missense	probably benign	0.13
R5348:Cux2	UTSW	5	121865978	missense	probably damaging	0.99
R6208:Cux2	UTSW	5	121860822	missense	possibly damaging	0.93
R6500:Cux2	UTSW	5	121864726	missense	probably benign	0.03
R6661:Cux2	UTSW	5	121869297	missense	probably benign	0.04
R6986:Cux2	UTSW	5	121868579	missense	possibly damaging	0.84
R7296:Cux2	UTSW	5	121861256	missense	probably benign	0.25
R7561:Cux2	UTSW	5	121879868	missense	probably benign	0.31
R7702:Cux2	UTSW	5	121868585	missense	possibly damaging	0.70
R7705:Cux2	UTSW	5	121869673	missense	probably benign	0.13
R7791:Cux2	UTSW	5	121867099	missense	probably benign	0.10
R7998:Cux2	UTSW	5	121868585	missense	possibly damaging	0.70
R8081:Cux2	UTSW	5	121869456	missense	probably benign	0.13
R8096:Cux2	UTSW	5	121869097	missense	possibly damaging	0.70
R8191:Cux2	UTSW	5	121874154	missense	probably benign	0.31
R8794:Cux2	UTSW	5	121869243	missense	probably benign	0.31
R8957:Cux2	UTSW	5	121860948	missense	probably benign	0.36
R9601:Cux2	UTSW	5	121887398	missense	possibly damaging	0.85
R9749:Cux2	UTSW	5	121869717	missense	possibly damaging	0.95
R9765:Cux2	UTSW	5	121869132	missense	probably benign	0.00
X0027:Cux2	UTSW	5	121884751	missense	probably benign	0.13
Z1176:Cux2	UTSW	5	121873813	nonsense	probably null
Z1176:Cux2	UTSW	5	121885934	missense	probably benign	0.02
Z1177:Cux2	UTSW	5	121873680	missense	probably damaging	1.00
Z1177:Cux2	UTSW	5	121877129	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- ACATCTAGGTTTGTCCCCAAC -3'
(R):5'- TGCTGGGATTAAAGGCATGCG -3'

Sequencing Primer
(F):5'- CATCCCGCAGTGGTGTCATTG -3'
(R):5'- GCCAGGCTCACACACACAG -3'

Posted On

2014-10-01