Mutagenetix > Incidental Mutations

Incidental Mutation 'R7282:Unc5c'

565710

Institutional Source

Beutler Lab

Gene Symbol

Unc5c

Ensembl Gene

ENSMUSG00000059921

Gene Name

unc-5 netrin receptor C

Synonyms

B130051O18Rik, Unc5h3

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7282 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

141465216-141834924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141677990 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 43 (D43G)

Ref Sequence

ENSEMBL: ENSMUSP00000074758 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000075282
AA Change: D43G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074758
Gene: ENSMUSG00000059921
AA Change: D43G

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: D43G

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101843
Gene: ENSMUSG00000059921
AA Change: D43G

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

SMART Domains

Protein: ENSMUSP00000117487
Gene: ENSMUSG00000059921

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

probably damaging
Transcript: ENSMUST00000142762
AA Change: D43G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118212
Gene: ENSMUSG00000059921
AA Change: D43G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	C	A	11: 58,425,756	D187E	probably damaging	Het
9530053A07Rik	A	G	7: 28,144,408	N907S	probably benign	Het
A830010M20Rik	G	T	5: 107,507,196	V954L	probably benign	Het
A830010M20Rik	A	G	5: 107,510,505	D1647G	probably damaging	Het
Abl2	T	C	1: 156,630,060	Y299H	probably damaging	Het
Acsl3	T	A	1: 78,681,992	N120K	probably damaging	Het
Aldh1a1	A	G	19: 20,629,070	K255R	possibly damaging	Het
Baz2b	C	T	2: 59,920,437	R1205H	probably benign	Het
Carmil1	A	G	13: 24,013,404	S1350P	probably benign	Het
Cecr2	A	T	6: 120,761,621	N325I		Het
Cep120	C	T	18: 53,740,089	A57T	probably damaging	Het
Chst8	T	C	7: 34,748,203		probably null	Het
Cntn4	A	T	6: 106,525,460	I393F	probably damaging	Het
Crocc	T	C	4: 141,022,341	D1494G	probably damaging	Het
Cwc25	T	C	11: 97,748,006	E364G	possibly damaging	Het
Dnah7a	C	A	1: 53,684,900		probably null	Het
Drg2	A	G	11: 60,454,693	E5G	probably benign	Het
Ehd4	T	C	2: 120,091,248	H509R	probably damaging	Het
Enam	A	T	5: 88,502,327	N565I	probably damaging	Het
Evi2a	G	T	11: 79,527,423	N120K	probably benign	Het
Faim	A	G	9: 98,992,126	T2A	probably benign	Het
Fmnl1	T	C	11: 103,196,265	V836A	unknown	Het
Fosb	T	C	7: 19,305,188	I224V	possibly damaging	Het
Frem3	A	T	8: 80,612,031	T318S	probably damaging	Het
Gm13103	A	G	4: 143,851,881	N237S	possibly damaging	Het
Gm9972	G	A	11: 43,036,804	G93R	unknown	Het
Gtf2a1	A	T	12: 91,567,835	I215N	possibly damaging	Het
Hs3st3b1	A	G	11: 63,921,571	V106A	probably benign	Het
Igkv19-93	T	C	6: 68,736,501	D48G	probably benign	Het
Itgb8	A	T	12: 119,237,708	W31R	probably benign	Het
Kmt2d	A	T	15: 98,854,104	W1995R	unknown	Het
Lama3	G	T	18: 12,439,392	Q551H	probably damaging	Het
Lama5	T	C	2: 180,201,795	Y453C	probably damaging	Het
Lbhd2	G	A	12: 111,410,290	R57H	probably damaging	Het
Lcmt2	A	G	2: 121,138,790	V384A	probably damaging	Het
Lgsn	T	G	1: 31,203,371	L178R	probably damaging	Het
Lhcgr	C	T	17: 88,758,383	V193I	probably benign	Het
Lta4h	T	C	10: 93,453,511	M1T	probably null	Het
Ly6l	T	C	15: 75,449,496	S14P	probably damaging	Het
Met	C	A	6: 17,547,012	C881*	probably null	Het
Mettl21e	A	T	1: 44,210,239	Y86N	probably damaging	Het
Mgam	A	T	6: 40,656,512	N251Y	possibly damaging	Het
Mgam	A	G	6: 40,763,111	T1673A	probably benign	Het
Mmp27	T	A	9: 7,578,230	V357D	probably damaging	Het
Muc2	A	G	7: 141,752,744	E740G		Het
Myoc	C	A	1: 162,648,844	S372R	probably benign	Het
Ncor2	A	T	5: 125,020,040	M1358K		Het
Nol6	A	G	4: 41,119,468	S613P	probably benign	Het
Nuggc	T	A	14: 65,617,623	I334N	probably damaging	Het
Nxnl2	C	T	13: 51,171,506	P62S	probably damaging	Het
Ogfod1	C	T	8: 94,037,439	H51Y	possibly damaging	Het
Olfml1	T	A	7: 107,590,323	D198E	possibly damaging	Het
Olfr1395	A	C	11: 49,149,118	N287T	probably damaging	Het
Ovch2	C	T	7: 107,794,370	R183H	possibly damaging	Het
Plxnd1	A	T	6: 115,960,837	L1516Q	probably damaging	Het
Prrc2c	A	G	1: 162,679,974	V2448A	possibly damaging	Het
Rexo5	C	T	7: 119,818,413	T212I	probably damaging	Het
Rgl2	C	T	17: 33,933,429	R367W	probably damaging	Het
Rnf213	T	G	11: 119,437,992	I2030S		Het
Rtf1	C	T	2: 119,675,099	A11V	unknown	Het
Setdb1	T	G	3: 95,338,674	T647P	probably damaging	Het
Shisa6	G	C	11: 66,502,654	P272R	possibly damaging	Het
Slc25a54	G	T	3: 109,116,501	G471*	probably null	Het
Slc30a1	A	G	1: 191,909,432	T397A	probably benign	Het
Slc7a14	A	G	3: 31,227,153	F336S	possibly damaging	Het
Slitrk3	C	T	3: 73,050,465	V325I	possibly damaging	Het
Sptan1	A	G	2: 29,986,929	Y361C	probably damaging	Het
Stard9	A	G	2: 120,698,503	D1747G	probably benign	Het
Taf3	T	C	2: 9,951,442	E638G	probably damaging	Het
Tbc1d8	T	C	1: 39,372,533	D1074G	probably benign	Het
Tecrl	G	A	5: 83,354,907	H32Y	probably benign	Het
Tgm3	T	A	2: 130,024,561	M133K	probably benign	Het
Tmem131	A	G	1: 36,841,604	F195S	probably damaging	Het
Tmem82	T	C	4: 141,614,950	I314V	possibly damaging	Het
Trappc10	T	C	10: 78,207,493	E555G	probably damaging	Het
Ubn2	A	T	6: 38,452,876	K176*	probably null	Het
Ucp1	G	A	8: 83,293,902	G114R	probably benign	Het
Vmn2r3	C	T	3: 64,261,404	V571M	possibly damaging	Het
Vwa3a	A	T	7: 120,786,465	I677L	probably benign	Het
Wdr48	T	C	9: 119,911,081	S319P	probably 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
R1674:Unc5c	UTSW	3	141757837	missense	possibly damaging	0.74
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
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
R7956:Unc5c	UTSW	3	141827549	missense	probably benign	0.04
R7979:Unc5c	UTSW	3	141771161	missense	possibly damaging	0.73
R8041:Unc5c	UTSW	3	141465784	missense	possibly damaging	0.92
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'- CTGGACTTCATTTTGCAGATTGC -3'
(R):5'- ATGAACCCACTCGCTGTTG -3'

Sequencing Primer
(F):5'- GGACTTCATTTTGCAGATTGCTACTC -3'
(R):5'- CACTCGCTGTTGCACTTGAAGTAG -3'

Posted On

2019-06-26