Mutagenetix > Incidental Mutations

Incidental Mutation 'R1674:Unc5c'

187888

Institutional Source

Beutler Lab

Gene Symbol

Unc5c

Ensembl Gene

ENSMUSG00000059921

Gene Name

unc-5 netrin receptor C

Synonyms

B130051O18Rik, Unc5h3

MMRRC Submission

039710-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1674 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141465216-141834924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 141757837 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 240 (V240I)

Ref Sequence

ENSEMBL: ENSMUSP00000118212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075282] [ENSMUST00000106236] [ENSMUST00000130636] [ENSMUST00000142762]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075282
AA Change: V240I

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074758
Gene: ENSMUSG00000059921
AA Change: V240I

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
SCOP:d2fcba2	64	164	9e-3	SMART
IGc2	179	246	2.72e-5	SMART
TSP1	263	314	8.54e-13	SMART
TSP1	319	368	1.18e-6	SMART
transmembrane domain	396	418	N/A	INTRINSIC
ZU5	547	650	6.92e-63	SMART
low complexity region	695	704	N/A	INTRINSIC
DEATH	857	948	6.68e-24	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106236
AA Change: V240I

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101843
Gene: ENSMUSG00000059921
AA Change: V240I

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
SCOP:d2fcba2	64	164	9e-3	SMART
IGc2	179	246	2.72e-5	SMART
TSP1	263	314	8.54e-13	SMART
TSP1	319	368	1.18e-6	SMART
transmembrane domain	377	399	N/A	INTRINSIC
ZU5	528	631	6.92e-63	SMART
low complexity region	676	685	N/A	INTRINSIC
DEATH	838	929	6.68e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130636
AA Change: V166I

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117487
Gene: ENSMUSG00000059921
AA Change: V166I

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
IGc2	105	172	2.72e-5	SMART
TSP1	189	240	8.54e-13	SMART
TSP1	245	294	1.18e-6	SMART
transmembrane domain	322	344	N/A	INTRINSIC
ZU5	473	576	6.92e-63	SMART
low complexity region	621	630	N/A	INTRINSIC
DEATH	783	874	6.68e-24	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142762
AA Change: V240I

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118212
Gene: ENSMUSG00000059921
AA Change: V240I

Domain	Start	End	E-Value	Type
signal peptide	1	39	N/A	INTRINSIC
SCOP:d2fcba2	64	164	9e-3	SMART
IGc2	179	246	2.72e-5	SMART
TSP1	263	314	8.54e-13	SMART
TSP1	319	368	1.18e-6	SMART
transmembrane domain	396	418	N/A	INTRINSIC
ZU5	547	650	6.92e-63	SMART
low complexity region	695	704	N/A	INTRINSIC
DEATH	857	948	6.68e-24	SMART

Meta Mutation Damage Score

0.2206

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (91/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product belongs to the UNC-5 family of netrin receptors. Netrins are secreted proteins that direct axon extension and cell migration during neural development. They are bifunctional proteins that act as attractants for some cell types and as repellents for others, and these opposite actions are thought to be mediated by two classes of receptors. The UNC-5 family of receptors mediate the repellent response to netrin; they are transmembrane proteins containing 2 immunoglobulin (Ig)-like domains and 2 type I thrombospondin motifs in the extracellular region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants exhibit ataxia, and reduced size early in life. Mutants exhibit cerebellar defects including reduced size and ectopic cerebellar cells in the midbrain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579G24Rik	A	G	3: 79,631,144	T66A	probably benign	Het
5430401F13Rik	A	T	6: 131,552,803	Q120L	unknown	Het
Akirin1	A	G	4: 123,743,463	S110P	possibly damaging	Het
Ankmy2	T	A	12: 36,187,669	S256T	probably benign	Het
Areg	T	C	5: 91,143,626	F143L	probably damaging	Het
Arhgap42	A	G	9: 9,006,584	S604P	probably damaging	Het
Arid1a	A	G	4: 133,689,260	V1068A	unknown	Het
Arid4a	G	A	12: 71,075,338	S509N	probably benign	Het
Atoh1	T	G	6: 64,729,930	I203S	possibly damaging	Het
Atp5l	T	C	9: 44,914,659	T69A	possibly damaging	Het
Baz1b	A	G	5: 135,205,111	E164G	probably damaging	Het
Baz2b	A	T	2: 59,912,992	V1545E	possibly damaging	Het
Best1	A	G	19: 9,993,226		probably null	Het
Casp8	T	A	1: 58,844,416	I314N	probably damaging	Het
Ccdc13	T	C	9: 121,809,142	T26A	probably damaging	Het
Ccr6	A	T	17: 8,256,217	I85L	probably damaging	Het
Cdh10	A	T	15: 18,985,066	N272I	probably benign	Het
Cdh10	T	A	15: 19,013,330	I672K	probably damaging	Het
Cdk17	A	T	10: 93,221,630	E163V	probably benign	Het
Chsy1	T	C	7: 66,171,663	F549L	probably damaging	Het
CN725425	T	C	15: 91,246,921	Y420H	possibly damaging	Het
Cpt1b	A	T	15: 89,422,332	M281K	possibly damaging	Het
Crlf2	A	G	5: 109,558,803		probably null	Het
Ctif	T	C	18: 75,637,180	T45A	probably benign	Het
Ddx31	T	C	2: 28,858,816	F252S	probably damaging	Het
Dennd2d	T	C	3: 106,492,517	I242T	probably benign	Het
Dennd5b	A	G	6: 148,998,284	F1205S	probably damaging	Het
Dopey1	T	C	9: 86,536,160	S1981P	probably damaging	Het
Dsg1b	A	T	18: 20,399,521	T541S	probably benign	Het
Dst	T	A	1: 34,223,795		probably null	Het
Dysf	T	C	6: 84,179,715	V1508A	probably benign	Het
Erf	A	T	7: 25,245,306	L200Q	possibly damaging	Het
Erich3	A	G	3: 154,762,623		probably benign	Het
Esrrb	C	T	12: 86,514,451	L320F	probably damaging	Het
Fap	T	A	2: 62,519,005	D508V	probably benign	Het
Fdft1	A	C	14: 63,164,585	N48K	probably benign	Het
Fdps	A	G	3: 89,100,730	V94A	probably benign	Het
Fes	A	T	7: 80,377,938	H819Q	probably benign	Het
Foxd1	G	T	13: 98,354,839	D74Y	unknown	Het
Gm136	A	T	4: 34,746,662		probably benign	Het
Gm14685	G	T	X: 73,127,655	G218C	probably damaging	Het
Gm5919	T	A	9: 83,883,285	L58*	probably null	Het
Gm6871	C	T	7: 41,573,635	V10I	possibly damaging	Het
Isy1	T	C	6: 87,834,487	R29G	probably damaging	Het
Kif16b	T	A	2: 142,712,953	K653*	probably null	Het
Kif17	A	G	4: 138,301,258	T706A	probably benign	Het
Kif18b	G	T	11: 102,913,060	P425T	probably benign	Het
Lama1	T	A	17: 67,791,244	V1812E	probably benign	Het
Lama5	A	G	2: 180,201,987	V430A	probably benign	Het
Lclat1	A	G	17: 73,239,781	E231G	probably damaging	Het
Lig4	T	C	8: 9,971,692	D696G	probably benign	Het
Mylpf	T	A	7: 127,214,137	V151E	probably damaging	Het
Naa16	A	T	14: 79,387,057	M1K	probably null	Het
Ndufaf6	T	C	4: 11,070,264	K119R	probably benign	Het
Nt5c1b	T	C	12: 10,370,055		probably benign	Het
Olfr1080	T	A	2: 86,553,860	D88V	probably damaging	Het
Olfr1102	T	C	2: 87,002,233	V88A	probably benign	Het
Olfr1197	A	G	2: 88,729,257	V114A	probably damaging	Het
Olfr1504	T	A	19: 13,887,590	I207L	probably benign	Het
Olfr307	G	A	7: 86,335,557	P280S	probably damaging	Het
Otud4	A	G	8: 79,673,147	N830S	probably benign	Het
Pdcd10	A	C	3: 75,541,179	M26R	probably damaging	Het
Pitpnc1	A	G	11: 107,226,245	V223A	possibly damaging	Het
Pkp2	A	G	16: 16,240,558	D368G	possibly damaging	Het
Pla1a	A	T	16: 38,414,810	M174K	probably benign	Het
Polr2b	A	G	5: 77,326,623	K436E	possibly damaging	Het
Rdh16	A	G	10: 127,801,357	M54V	probably benign	Het
Sall2	C	A	14: 52,313,836	C632F	probably damaging	Het
Sart1	T	A	19: 5,385,825	I120F	probably damaging	Het
Slco1a1	A	T	6: 141,935,935	M157K	probably damaging	Het
Snapc4	T	C	2: 26,376,197	T178A	probably benign	Het
Sox6	T	C	7: 115,801,419	I63V	probably benign	Het
Spin1	T	A	13: 51,149,099	Y243N	probably damaging	Het
Stmnd1	T	C	13: 46,299,621	Y258H	possibly damaging	Het
Tex13b	A	T	X: 140,810,070	N184K	probably benign	Het
Tgm5	T	C	2: 121,071,544	T215A	possibly damaging	Het
Tnks2	A	G	19: 36,871,622	T165A	probably benign	Het
Top2a	A	T	11: 99,009,273	F667Y	probably damaging	Het
Tpo	T	C	12: 30,100,568	M438V	probably benign	Het
Tyw1	A	G	5: 130,269,328	R237G	probably benign	Het
Unc80	A	C	1: 66,509,308	T580P	probably damaging	Het
Upp2	G	A	2: 58,790,064	E301K	probably benign	Het
Utp18	A	G	11: 93,876,053		probably null	Het
Vmn1r23	T	C	6: 57,926,061	D244G	possibly damaging	Het
Vps13c	T	A	9: 67,853,703	L51*	probably null	Het
Xpnpep3	A	G	15: 81,430,767	T223A	probably benign	Het
Zfp28	T	A	7: 6,394,943	H792Q	possibly damaging	Het
Zfp804a	A	G	2: 82,258,824	K999R	probably benign	Het
Zkscan16	G	A	4: 58,948,918	V158M	possibly damaging	Het

Other mutations in Unc5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Unc5c	APN	3	141788940	missense	probably damaging	0.99
IGL01089:Unc5c	APN	3	141818202	splice site	probably benign
IGL01478:Unc5c	APN	3	141828451	missense	probably damaging	1.00
IGL02083:Unc5c	APN	3	141714647	missense	probably damaging	0.99
IGL02269:Unc5c	APN	3	141788982	missense	probably damaging	1.00
IGL02565:Unc5c	APN	3	141803919	missense	probably damaging	1.00
IGL02973:Unc5c	APN	3	141788890	missense	probably benign	0.12
R0179:Unc5c	UTSW	3	141818067	nonsense	probably null
R0309:Unc5c	UTSW	3	141733933	missense	probably benign	0.01
R0371:Unc5c	UTSW	3	141827522	missense	probably benign	0.01
R0603:Unc5c	UTSW	3	141771102	missense	probably damaging	1.00
R0904:Unc5c	UTSW	3	141803840	missense	probably benign	0.08
R0907:Unc5c	UTSW	3	141789033	missense	probably damaging	0.99
R1300:Unc5c	UTSW	3	141828543	missense	possibly damaging	0.94
R1491:Unc5c	UTSW	3	141789822	missense	probably damaging	1.00
R1494:Unc5c	UTSW	3	141827549	missense	possibly damaging	0.93
R1676:Unc5c	UTSW	3	141757837	missense	possibly damaging	0.74
R1726:Unc5c	UTSW	3	141818103	missense	probably damaging	1.00
R1750:Unc5c	UTSW	3	141827517	missense	possibly damaging	0.89
R1815:Unc5c	UTSW	3	141757757	missense	probably damaging	1.00
R2381:Unc5c	UTSW	3	141678155	missense	probably damaging	1.00
R2394:Unc5c	UTSW	3	141678131	missense	probably damaging	1.00
R2945:Unc5c	UTSW	3	141789974	missense	probably damaging	0.97
R4284:Unc5c	UTSW	3	141714674	missense	probably damaging	1.00
R4285:Unc5c	UTSW	3	141714674	missense	probably damaging	1.00
R4287:Unc5c	UTSW	3	141714674	missense	probably damaging	1.00
R4681:Unc5c	UTSW	3	141768613	critical splice donor site	probably null
R4736:Unc5c	UTSW	3	141816931	missense	probably benign	0.00
R4740:Unc5c	UTSW	3	141816931	missense	probably benign	0.00
R4774:Unc5c	UTSW	3	141828517	missense	probably damaging	1.00
R4862:Unc5c	UTSW	3	141789773	missense	probably damaging	1.00
R4905:Unc5c	UTSW	3	141801310	missense	probably benign	0.19
R4921:Unc5c	UTSW	3	141788966	missense	probably damaging	1.00
R5150:Unc5c	UTSW	3	141757793	missense	probably damaging	1.00
R5559:Unc5c	UTSW	3	141803787	missense	probably damaging	1.00
R5562:Unc5c	UTSW	3	141768530	missense	probably damaging	1.00
R5643:Unc5c	UTSW	3	141678125	missense	probably damaging	1.00
R5644:Unc5c	UTSW	3	141678125	missense	probably damaging	1.00
R5775:Unc5c	UTSW	3	141828520	missense	probably damaging	1.00
R5912:Unc5c	UTSW	3	141789006	missense	probably damaging	1.00
R6154:Unc5c	UTSW	3	141678153	missense	probably damaging	0.97
R6547:Unc5c	UTSW	3	141790019	missense	probably benign	0.16
R6558:Unc5c	UTSW	3	141789729	missense	probably damaging	0.98
R7104:Unc5c	UTSW	3	141733904	missense	probably damaging	1.00
R7113:Unc5c	UTSW	3	141801293	missense	probably benign	0.00
R7282:Unc5c	UTSW	3	141677990	missense	probably damaging	0.98
R7317:Unc5c	UTSW	3	141789942	missense	probably benign	0.00
R7787:Unc5c	UTSW	3	141768552	missense	probably damaging	1.00
R7873:Unc5c	UTSW	3	141827549	missense	probably benign	0.04
R7896:Unc5c	UTSW	3	141771161	missense	possibly damaging	0.73
R7936:Unc5c	UTSW	3	141828477	missense	possibly damaging	0.48
R8041:Unc5c	UTSW	3	141465784	missense	possibly damaging	0.92
R8277:Unc5c	UTSW	3	141768612	critical splice donor site	probably null
X0018:Unc5c	UTSW	3	141714739	missense	probably damaging	1.00
X0065:Unc5c	UTSW	3	141827661	missense	probably damaging	1.00
Z1088:Unc5c	UTSW	3	141733900	missense	probably damaging	1.00
Z1176:Unc5c	UTSW	3	141678010	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTCTGCTTGGATGCAATTCATAGC -3'
(R):5'- ATCACACTTAGGGCCTCCTGGAAG -3'

Sequencing Primer
(F):5'- TGTTATATACACTGCAAAACCCAGG -3'
(R):5'- GGGCCTCCTGGAAGTAATTAAATC -3'

Posted On

2014-05-09