Mutagenetix > Incidental Mutations

Incidental Mutation 'R6154:Unc5c'

489431

Institutional Source

Beutler Lab

Gene Symbol

Unc5c

Ensembl Gene

ENSMUSG00000059921

Gene Name

unc-5 netrin receptor C

Synonyms

B130051O18Rik, Unc5h3

MMRRC Submission

044301-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6154 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141465216-141834924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 141678153 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 97 (S97R)

Ref Sequence

ENSEMBL: ENSMUSP00000118212 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000075282
AA Change: S97R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074758
Gene: ENSMUSG00000059921
AA Change: S97R

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

probably damaging
Transcript: ENSMUST00000106236
AA Change: S97R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101843
Gene: ENSMUSG00000059921
AA Change: S97R

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: S97R

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118212
Gene: ENSMUSG00000059921
AA Change: S97R

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

noncoding transcript
Transcript: ENSMUST00000155416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160604

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

97% (70/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	G	10: 107,123,349	I79L	probably benign	Het
Adam6a	C	T	12: 113,545,672	T555I	probably benign	Het
Adap1	A	G	5: 139,307,776	V60A	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Angpt1	T	C	15: 42,523,655	E101G	probably damaging	Het
Asxl2	T	C	12: 3,496,593	V459A	possibly damaging	Het
Cabs1	C	T	5: 87,979,754	T88I	possibly damaging	Het
Camta2	G	A	11: 70,678,385	A578V	probably damaging	Het
Cdc16	A	G	8: 13,768,609	N316D	possibly damaging	Het
Chrm3	T	A	13: 9,878,440	M187L	possibly damaging	Het
Clcn4	T	C	7: 7,291,482	T367A	probably benign	Het
Clcn7	T	C	17: 25,157,954	S654P	probably damaging	Het
Col6a3	T	A	1: 90,773,665	T2510S	unknown	Het
Crisp4	T	C	1: 18,122,788	E192G	possibly damaging	Het
Dmbt1	T	A	7: 131,109,641		probably null	Het
Dnah5	T	G	15: 28,204,031	L18R	probably benign	Het
Dnah9	T	G	11: 65,855,338	D3983A	probably benign	Het
Dock5	C	A	14: 67,859,912	V71L	probably benign	Het
Dync1h1	T	C	12: 110,617,993	V610A	probably damaging	Het
Dynlrb2	A	G	8: 116,515,689	Y86C	probably benign	Het
Ep400	T	C	5: 110,755,933	I267V	probably damaging	Het
Gaa	A	G	11: 119,278,352	Y575C	probably damaging	Het
Gm8094	T	A	14: 43,076,563	D24V	probably benign	Het
Gm884	A	G	11: 103,614,143	V2333A	probably benign	Het
Grina	T	C	15: 76,248,887	I244T	possibly damaging	Het
Haus6	A	G	4: 86,583,756	L626P	possibly damaging	Het
Hexdc	A	T	11: 121,221,271	H439L	probably benign	Het
Ifna12	A	T	4: 88,603,294	C5*	probably null	Het
Igf2bp2	G	T	16: 22,076,093	S300*	probably null	Het
Ighv6-5	T	C	12: 114,416,742	R71G	probably benign	Het
Lrrn4cl	T	C	19: 8,851,888	S77P	probably damaging	Het
Mast4	A	G	13: 102,787,421	L302P	probably damaging	Het
Mink1	T	C	11: 70,610,101	V831A	possibly damaging	Het
Mme	T	A	3: 63,300,253	I40N	probably damaging	Het
Myh2	A	G	11: 67,186,612	T858A	probably benign	Het
Ncbp3	T	A	11: 73,049,874	Y67N	probably damaging	Het
Nedd1	T	A	10: 92,698,242	I349F	possibly damaging	Het
Nek11	A	T	9: 105,323,169	*81K	probably null	Het
Nrip1	A	G	16: 76,293,830	Y280H	probably damaging	Het
Obsl1	T	C	1: 75,500,144	D722G	probably benign	Het
Olfr1117-ps1	T	G	2: 87,309,558	S256R	probably benign	Het
Olfr1209	A	G	2: 88,910,390	M1T	probably null	Het
Olfr152	A	G	2: 87,782,756	D72G	possibly damaging	Het
Olfr164	A	T	16: 19,286,431	I104K	probably damaging	Het
Olfr789	C	T	10: 129,487,676	T222I	probably damaging	Het
Pcdhb6	A	G	18: 37,334,913	I296V	probably benign	Het
Pcnx2	G	T	8: 125,762,813	L1681M	probably damaging	Het
Pdlim5	T	C	3: 142,277,913	R360G	possibly damaging	Het
Peli2	C	T	14: 48,250,594	Q81*	probably null	Het
Pitpnb	C	T	5: 111,338,397	Q56*	probably null	Het
Ppp1r3a	A	G	6: 14,754,604	S215P	possibly damaging	Het
Prrt3	A	G	6: 113,495,028	Y728H	probably damaging	Het
Rsf1	A	AAGGCGACGG	7: 97,579,904		probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,579,907		probably benign	Het
Sbno1	T	C	5: 124,378,479	H1277R	possibly damaging	Het
Siglecg	C	A	7: 43,412,017	N481K	possibly damaging	Het
Sirt6	C	T	10: 81,626,505	G20D	probably damaging	Het
Sit1	C	A	4: 43,482,981	R89S	probably benign	Het
Slc7a12	A	G	3: 14,481,034	R80G	probably damaging	Het
Smok3c	T	A	5: 138,064,485	M78K	probably benign	Het
Stk10	T	A	11: 32,603,654		probably null	Het
Tada2b	A	G	5: 36,476,664	V190A	probably damaging	Het
Tnk1	C	T	11: 69,856,954	V41I	probably damaging	Het
Tpr	T	A	1: 150,423,816	V1146E	probably benign	Het
Trappc9	T	C	15: 73,058,081	D142G	probably benign	Het
Trpm3	T	C	19: 22,987,814	Y1558H	probably damaging	Het
Vmn1r172	T	C	7: 23,660,158	I156T	probably damaging	Het
Vmn2r51	A	T	7: 10,087,994	M588K	possibly damaging	Het
Vps26a	T	G	10: 62,468,340	E117D	probably damaging	Het
Zfp451	A	T	1: 33,803,546		probably benign	Het
Zfp534	C	A	4: 147,674,688	R508I	probably benign	Het
Zp3r	C	T	1: 130,598,905	C187Y	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
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'- ACAAGAATGCCGTATTTTGACC -3'
(R):5'- AGACATCATTTTCCAGGATGTTCC -3'

Sequencing Primer
(F):5'- GAATGCCGTATTTTGACCATATTCC -3'
(R):5'- TGAACAGTCACATAGTTCATCAAC -3'

Posted On

2017-10-10