Mutagenetix > Incidental Mutations

Incidental Mutation 'R7896:Unc5c'

609670

Institutional Source

Beutler Lab

Gene Symbol

Unc5c

Ensembl Gene

ENSMUSG00000059921

Gene Name

unc-5 netrin receptor C

Synonyms

B130051O18Rik, Unc5h3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7896 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141465216-141834924 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141771161 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 363 (T363S)

Ref Sequence

ENSEMBL: ENSMUSP00000074758 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075282
AA Change: T363S

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074758
Gene: ENSMUSG00000059921
AA Change: T363S

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 benign
Transcript: ENSMUST00000106236
AA Change: T363S

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101843
Gene: ENSMUSG00000059921
AA Change: T363S

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 damaging
Transcript: ENSMUST00000130636
AA Change: T289S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117487
Gene: ENSMUSG00000059921
AA Change: T289S

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: T363S

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118212
Gene: ENSMUSG00000059921
AA Change: T363S

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: 99.1%

Validation Efficiency

99% (82/83)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 80,004,958	T894A	probably damaging	Het
Abcc10	T	A	17: 46,324,309	H256L	probably benign	Het
Abcc6	A	G	7: 45,977,379	L1418P	probably damaging	Het
Actn2	G	A	13: 12,294,317	A290V	possibly damaging	Het
Actrt2	A	T	4: 154,667,195	D161E	probably benign	Het
Adam19	T	A	11: 46,137,543	C668S	probably damaging	Het
Alg8	T	C	7: 97,390,916	L435S	probably damaging	Het
Amz2	G	A	11: 109,436,587	E322K	possibly damaging	Het
Ankrd12	T	A	17: 65,985,685	R918*	probably null	Het
Atp5f1	A	G	3: 105,955,943	I59T	probably damaging	Het
Bach1	T	A	16: 87,719,005	C145S	possibly damaging	Het
Bcl6b	G	T	11: 70,227,022	S309*	probably null	Het
Birc6	G	T	17: 74,622,082	R2323L	probably damaging	Het
Catspere2	A	T	1: 178,111,174	M538L	probably benign	Het
Ccdc154	A	T	17: 25,171,826	M647L	probably benign	Het
Cdc14a	T	C	3: 116,294,833	T447A	probably benign	Het
Chst9	C	T	18: 15,452,789	R239H	probably damaging	Het
Cs	C	T	10: 128,353,135	A171V	probably damaging	Het
D3Ertd751e	T	A	3: 41,756,073	F107I	probably benign	Het
D430041D05Rik	T	C	2: 104,258,040	D197G	probably benign	Het
Dcdc2c	G	A	12: 28,470,620	Q486*	probably null	Het
Dolk	A	T	2: 30,285,949	V28E	possibly damaging	Het
Dpf2	C	T	19: 5,904,305	S191N	probably benign	Het
Eml3	T	A	19: 8,933,807	F267I	possibly damaging	Het
Fam184a	C	A	10: 53,633,706	E126*	probably null	Het
Fam189a1	T	C	7: 64,776,809	H232R	probably damaging	Het
Foxo3	T	C	10: 42,197,736	S262G	possibly damaging	Het
Gm1527	T	G	3: 28,921,593		probably null	Het
Gm49380	G	A	9: 44,112,799	L51F	probably damaging	Het
Gm9195	A	T	14: 72,455,738	H1582Q	unknown	Het
Gm9573	G	A	17: 35,620,025	P1090S	unknown	Het
Grip1	A	G	10: 119,978,545	Q327R	possibly damaging	Het
Gstt1	A	G	10: 75,784,142	F207S	probably damaging	Het
Itsn1	G	A	16: 91,818,558	R397H	unknown	Het
Kif16b	A	G	2: 142,834,075		probably null	Het
Kif5a	A	G	10: 127,242,004	V407A	probably benign	Het
Lrrc57	C	A	2: 120,607,891	D134Y	probably damaging	Het
Map1a	A	G	2: 121,305,176	T2158A	probably benign	Het
Mink1	A	G	11: 70,612,282	N1068S	possibly damaging	Het
Mmp8	A	T	9: 7,564,977	I295F	probably damaging	Het
Mup18	G	T	4: 61,672,688		probably null	Het
Myo1h	G	T	5: 114,336,311		probably null	Het
Nap1l5	C	T	6: 58,906,520	G52S	probably damaging	Het
Npr3	A	G	15: 11,883,362	F327S	probably damaging	Het
Nrxn2	C	A	19: 6,532,053	Q1673K	possibly damaging	Het
Olfr457	T	A	6: 42,472,166	D4V	probably benign	Het
Olfr53	G	T	7: 140,652,901	L307F	probably benign	Het
Paf1	T	C	7: 28,396,647	Y260H	probably damaging	Het
Pcmtd2	T	C	2: 181,854,983	I251T	probably damaging	Het
Pde9a	C	T	17: 31,459,967	Q261*	probably null	Het
Ppip5k1	T	C	2: 121,347,330	D332G	probably damaging	Het
Ppl	C	T	16: 5,088,861	R1190H	probably damaging	Het
Ppp1r36	A	G	12: 76,428,149		probably null	Het
Pprc1	T	C	19: 46,061,449	L67P	unknown	Het
Prkdc	T	G	16: 15,708,903	L1346R	probably damaging	Het
Prl7c1	A	T	13: 27,778,087	M79K	possibly damaging	Het
Ptprb	C	T	10: 116,369,457		probably null	Het
R3hdm1	T	A	1: 128,168,966		probably null	Het
Ralgapa1	A	G	12: 55,697,878	V1276A	probably benign	Het
Rapsn	T	C	2: 91,044,955	L361P	probably benign	Het
Rbm22	G	T	18: 60,569,433	A275S	probably benign	Het
Rsph3a	A	G	17: 7,946,108	Y100C	probably damaging	Het
Rsrp1	A	T	4: 134,923,963	M13L	unknown	Het
Rtn4	T	G	11: 29,705,536	D169E	probably damaging	Het
Setd7	C	A	3: 51,536,656		probably null	Het
Slc38a2	A	G	15: 96,693,585	I206T	probably damaging	Het
Slc9a8	T	C	2: 167,465,358	F321L	probably benign	Het
Sppl2c	A	G	11: 104,187,130	D252G	possibly damaging	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,853,553		probably benign	Het
Syne2	A	G	12: 76,035,623	T117A	probably damaging	Het
Szt2	A	T	4: 118,402,913	F79I	possibly damaging	Het
Tlr3	T	A	8: 45,397,053	K860*	probably null	Het
Ttn	T	C	2: 76,794,674	S15187G	probably benign	Het
Ubr5	A	G	15: 38,041,573	V204A	probably benign	Het
Usp40	G	A	1: 87,978,479	T678I	possibly damaging	Het
Vmn1r62	A	T	7: 5,675,610	T97S	probably damaging	Het
Vmn1r85	T	A	7: 13,084,521	H232L	probably benign	Het
Vmn2r67	A	G	7: 85,136,712	I695T	probably damaging	Het
Zfp383	C	A	7: 29,912,201	D35E	probably damaging	Het
Zfp65	A	T	13: 67,729,055		probably null	Het
Zfp692	A	G	11: 58,314,236	K437R	probably damaging	Het
Zfp831	A	T	2: 174,647,128	T1199S	possibly damaging	Het
Zfr	T	A	15: 12,146,377	I338N	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
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
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
R8669:Unc5c	UTSW	3	141803943	missense	possibly damaging	0.91
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'- ACATTGAGTACTGCTCCTTCTG -3'
(R):5'- GCTATGATTCATTTCAGTTCCCAAG -3'

Sequencing Primer
(F):5'- GAGTACTGCTCCTTCTGACCTCATG -3'
(R):5'- TTCAGTTCCCAAGATATTAACTCAAC -3'

Posted On

2019-12-20