Mutagenetix > Incidental Mutation

Incidental Mutation 'R4921:Unc5c'

378551

Institutional Source

Beutler Lab

Gene Symbol

Unc5c

Ensembl Gene

ENSMUSG00000059921

Gene Name

unc-5 netrin receptor C

Synonyms

B130051O18Rik, Unc5h3

MMRRC Submission

042523-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4921 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141171360-141540685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141494727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 347 (Y347N)

Ref Sequence

ENSEMBL: ENSMUSP00000117487 (fasta)

Gene Model

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

AlphaFold

O08747

Predicted Effect

probably damaging
Transcript: ENSMUST00000075282
AA Change: Y421N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074758
Gene: ENSMUSG00000059921
AA Change: Y421N

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: Y402N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101843
Gene: ENSMUSG00000059921
AA Change: Y402N

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

noncoding transcript
Transcript: ENSMUST00000123631

Predicted Effect

probably damaging
Transcript: ENSMUST00000130636
AA Change: Y347N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117487
Gene: ENSMUSG00000059921
AA Change: Y347N

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: Y421N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118212
Gene: ENSMUSG00000059921
AA Change: Y421N

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: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.3%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,885,662 (GRCm39)	N65K	probably benign	Het
Abcc9	T	C	6: 142,536,162 (GRCm39)	Y1524C	probably benign	Het
Acap1	A	G	11: 69,778,019 (GRCm39)	I102T	probably damaging	Het
Acvr2a	T	C	2: 48,783,553 (GRCm39)	V284A	possibly damaging	Het
Adam3	T	C	8: 25,174,630 (GRCm39)	M712V	probably benign	Het
Adck1	T	C	12: 88,407,908 (GRCm39)	V213A	probably benign	Het
Adgrl3	G	T	5: 81,659,957 (GRCm39)	W242L	probably damaging	Het
Alk	T	C	17: 72,211,310 (GRCm39)	T857A	probably benign	Het
Alms1	A	G	6: 85,605,528 (GRCm39)	T2393A	probably benign	Het
Ank3	C	T	10: 69,837,939 (GRCm39)	P240L	probably damaging	Het
Ankrd35	C	A	3: 96,592,140 (GRCm39)	L809M	possibly damaging	Het
Birc6	T	A	17: 74,957,094 (GRCm39)	L3690Q	probably damaging	Het
Bmp3	C	A	5: 99,019,920 (GRCm39)	F114L	probably damaging	Het
Cage1	G	A	13: 38,203,184 (GRCm39)	H627Y	probably benign	Het
Cars1	T	C	7: 143,123,212 (GRCm39)	D468G	probably damaging	Het
Ccdc148	T	C	2: 58,719,814 (GRCm39)	E487G	probably damaging	Het
Ccdc80	A	T	16: 44,938,530 (GRCm39)	I746F	probably damaging	Het
Ccl25	A	G	8: 4,403,913 (GRCm39)	Q119R	possibly damaging	Het
Cdh24	C	T	14: 54,870,672 (GRCm39)	D178N	probably damaging	Het
Cdk12	A	T	11: 98,113,513 (GRCm39)	T766S	unknown	Het
Chst15	T	A	7: 131,849,613 (GRCm39)	T443S	probably benign	Het
Cnbp	T	C	6: 87,822,128 (GRCm39)	D125G	possibly damaging	Het
Cntn2	A	T	1: 132,443,770 (GRCm39)	V1003E	possibly damaging	Het
Crct1	A	G	3: 92,922,132 (GRCm39)		probably benign	Het
Dand5	C	T	8: 85,543,113 (GRCm39)	C121Y	probably damaging	Het
Dmkn	A	T	7: 30,470,658 (GRCm39)	D382V	probably damaging	Het
Dnase2b	T	A	3: 146,299,196 (GRCm39)	T86S	probably damaging	Het
Dusp8	GCCACCACCACCACCACCACCACC	GCCACCACCACCACCACCACC	7: 141,635,891 (GRCm39)		probably benign	Het
Eef1akmt1	C	T	14: 57,788,089 (GRCm39)	V90M	probably damaging	Het
Egfl7	G	T	2: 26,480,992 (GRCm39)	W168L	probably benign	Het
Ep400	A	G	5: 110,813,676 (GRCm39)	C2908R	probably damaging	Het
Espl1	A	G	15: 102,223,676 (GRCm39)	K1076E	probably damaging	Het
Exoc4	A	G	6: 33,887,452 (GRCm39)	N747D	probably benign	Het
Fancm	T	C	12: 65,123,915 (GRCm39)	V191A	probably benign	Het
Fbxo17	A	G	7: 28,432,214 (GRCm39)	D97G	probably benign	Het
Fer1l6	G	T	15: 58,472,160 (GRCm39)		probably null	Het
Flt4	T	C	11: 49,517,970 (GRCm39)	W337R	probably damaging	Het
Fpr-rs7	T	C	17: 20,334,082 (GRCm39)	H136R	possibly damaging	Het
Frem3	T	A	8: 81,339,765 (GRCm39)	I686N	possibly damaging	Het
Galnt9	A	G	5: 110,725,315 (GRCm39)	K84R	probably damaging	Het
Gfm2	T	A	13: 97,312,184 (GRCm39)	M760K	probably damaging	Het
Glis3	T	C	19: 28,643,504 (GRCm39)	T13A	probably damaging	Het
H2-K2	A	G	17: 34,216,050 (GRCm39)	V323A	possibly damaging	Het
Hbb-bs	G	A	7: 103,475,927 (GRCm39)	A130V	probably damaging	Het
Herc2	T	A	7: 55,879,438 (GRCm39)	H4685Q	probably benign	Het
Ighv5-9-1	C	T	12: 113,699,914 (GRCm39)	R56H	possibly damaging	Het
Itgb4	A	G	11: 115,897,431 (GRCm39)	N1548S	probably benign	Het
Itpr3	T	C	17: 27,316,979 (GRCm39)	Y745H	probably damaging	Het
Kank3	G	T	17: 34,036,174 (GRCm39)	G14V	probably damaging	Het
Kif24	G	T	4: 41,394,329 (GRCm39)	S982Y	probably damaging	Het
Kifc5b	C	T	17: 27,139,997 (GRCm39)	R53W	probably damaging	Het
Krt39	A	G	11: 99,405,575 (GRCm39)	S442P	possibly damaging	Het
Lcat	G	A	8: 106,669,074 (GRCm39)	P67L	possibly damaging	Het
Maml2	T	C	9: 13,532,471 (GRCm39)	S562P	probably damaging	Het
Map3k8	G	A	18: 4,349,124 (GRCm39)	R65W	possibly damaging	Het
Mbd3	G	T	10: 80,231,410 (GRCm39)	R12S	probably damaging	Het
Msr1	T	C	8: 40,077,292 (GRCm39)	E106G	possibly damaging	Het
Myh4	T	A	11: 67,144,854 (GRCm39)	L1256Q	probably damaging	Het
Mypn	G	A	10: 62,983,715 (GRCm39)	T511M	possibly damaging	Het
Nub1	A	T	5: 24,906,467 (GRCm39)	N331I	probably benign	Het
Nup107	A	G	10: 117,606,416 (GRCm39)	V440A	possibly damaging	Het
Ofcc1	A	G	13: 40,367,993 (GRCm39)	F174L	probably benign	Het
Or10d5	A	C	9: 39,861,521 (GRCm39)	V182G	probably damaging	Het
Or52ab2	A	T	7: 102,969,750 (GRCm39)	N44I	probably damaging	Het
Or9q2	T	C	19: 13,772,829 (GRCm39)	I49V	probably benign	Het
Parp2	C	A	14: 51,056,725 (GRCm39)	L310I	probably damaging	Het
Pcdh20	A	G	14: 88,707,162 (GRCm39)	V46A	probably benign	Het
Pcdhgb6	A	G	18: 37,876,525 (GRCm39)	D411G	probably damaging	Het
Pkd1l2	T	C	8: 117,781,624 (GRCm39)	E807G	probably benign	Het
Pkd1l2	A	T	8: 117,799,288 (GRCm39)	N267K	probably damaging	Het
Pramel24	A	T	4: 143,454,896 (GRCm39)	K398M	possibly damaging	Het
Rell1	C	A	5: 64,093,376 (GRCm39)	M126I	probably damaging	Het
Robo4	G	A	9: 37,313,856 (GRCm39)	E36K	probably benign	Het
Rpgrip1l	T	C	8: 91,987,637 (GRCm39)	S807G	probably benign	Het
Rpl10a	T	C	17: 28,549,826 (GRCm39)	V169A	probably benign	Het
Rubcn	C	T	16: 32,667,664 (GRCm39)	V166I	probably damaging	Het
Sall2	T	C	14: 52,552,850 (GRCm39)	E113G	possibly damaging	Het
Sars2	T	C	7: 28,451,863 (GRCm39)	S423P	possibly damaging	Het
Scaper	A	G	9: 55,799,519 (GRCm39)	I182T	probably benign	Het
Selp	A	G	1: 163,968,966 (GRCm39)	D522G	possibly damaging	Het
Sema4b	T	A	7: 79,848,504 (GRCm39)	I35N	possibly damaging	Het
Sgce	A	T	6: 4,694,153 (GRCm39)	F268I	probably damaging	Het
Slc14a2	G	T	18: 78,235,403 (GRCm39)	A258E	probably damaging	Het
Slc17a9	T	C	2: 180,377,742 (GRCm39)	Y213H	probably benign	Het
Slc22a7	T	G	17: 46,747,859 (GRCm39)	I233L	probably benign	Het
Slc35f1	A	G	10: 52,938,698 (GRCm39)	Q210R	probably damaging	Het
Slc6a21	A	G	7: 44,937,734 (GRCm39)	E350G	possibly damaging	Het
Spata21	A	T	4: 140,839,402 (GRCm39)	D639V	probably damaging	Het
Svil	A	G	18: 5,108,631 (GRCm39)	D1519G	probably damaging	Het
Tbccd1	T	C	16: 22,660,649 (GRCm39)	T56A	probably benign	Het
Tigit	A	T	16: 43,482,380 (GRCm39)	I118N	probably damaging	Het
Tlr11	A	T	14: 50,600,342 (GRCm39)	Q776L	possibly damaging	Het
Tspan12	A	C	6: 21,835,448 (GRCm39)	I9S	possibly damaging	Het
Unk	A	G	11: 115,945,771 (GRCm39)	T481A	probably benign	Het
Vmn1r192	A	C	13: 22,371,650 (GRCm39)	V190G	probably damaging	Het
Vnn3	A	T	10: 23,740,473 (GRCm39)	M259L	probably benign	Het
Zan	T	C	5: 137,406,632 (GRCm39)		probably benign	Het
Zdhhc6	T	C	19: 55,301,642 (GRCm39)	H113R	probably damaging	Het

Other mutations in Unc5c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Unc5c	APN	3	141,494,701 (GRCm39)	missense	probably damaging	0.99
IGL01089:Unc5c	APN	3	141,523,963 (GRCm39)	splice site	probably benign
IGL01478:Unc5c	APN	3	141,534,212 (GRCm39)	missense	probably damaging	1.00
IGL02083:Unc5c	APN	3	141,420,408 (GRCm39)	missense	probably damaging	0.99
IGL02269:Unc5c	APN	3	141,494,743 (GRCm39)	missense	probably damaging	1.00
IGL02565:Unc5c	APN	3	141,509,680 (GRCm39)	missense	probably damaging	1.00
IGL02973:Unc5c	APN	3	141,494,651 (GRCm39)	missense	probably benign	0.12
R0179:Unc5c	UTSW	3	141,523,828 (GRCm39)	nonsense	probably null
R0309:Unc5c	UTSW	3	141,439,694 (GRCm39)	missense	probably benign	0.01
R0371:Unc5c	UTSW	3	141,533,283 (GRCm39)	missense	probably benign	0.01
R0603:Unc5c	UTSW	3	141,476,863 (GRCm39)	missense	probably damaging	1.00
R0904:Unc5c	UTSW	3	141,509,601 (GRCm39)	missense	probably benign	0.08
R0907:Unc5c	UTSW	3	141,494,794 (GRCm39)	missense	probably damaging	0.99
R1300:Unc5c	UTSW	3	141,534,304 (GRCm39)	missense	possibly damaging	0.94
R1491:Unc5c	UTSW	3	141,495,583 (GRCm39)	missense	probably damaging	1.00
R1494:Unc5c	UTSW	3	141,533,310 (GRCm39)	missense	possibly damaging	0.93
R1674:Unc5c	UTSW	3	141,463,598 (GRCm39)	missense	possibly damaging	0.74
R1676:Unc5c	UTSW	3	141,463,598 (GRCm39)	missense	possibly damaging	0.74
R1726:Unc5c	UTSW	3	141,523,864 (GRCm39)	missense	probably damaging	1.00
R1750:Unc5c	UTSW	3	141,533,278 (GRCm39)	missense	possibly damaging	0.89
R1815:Unc5c	UTSW	3	141,463,518 (GRCm39)	missense	probably damaging	1.00
R2381:Unc5c	UTSW	3	141,383,916 (GRCm39)	missense	probably damaging	1.00
R2394:Unc5c	UTSW	3	141,383,892 (GRCm39)	missense	probably damaging	1.00
R2945:Unc5c	UTSW	3	141,495,735 (GRCm39)	missense	probably damaging	0.97
R4284:Unc5c	UTSW	3	141,420,435 (GRCm39)	missense	probably damaging	1.00
R4285:Unc5c	UTSW	3	141,420,435 (GRCm39)	missense	probably damaging	1.00
R4287:Unc5c	UTSW	3	141,420,435 (GRCm39)	missense	probably damaging	1.00
R4681:Unc5c	UTSW	3	141,474,374 (GRCm39)	critical splice donor site	probably null
R4736:Unc5c	UTSW	3	141,522,692 (GRCm39)	missense	probably benign	0.00
R4740:Unc5c	UTSW	3	141,522,692 (GRCm39)	missense	probably benign	0.00
R4774:Unc5c	UTSW	3	141,534,278 (GRCm39)	missense	probably damaging	1.00
R4862:Unc5c	UTSW	3	141,495,534 (GRCm39)	missense	probably damaging	1.00
R4905:Unc5c	UTSW	3	141,507,071 (GRCm39)	missense	probably benign	0.19
R5150:Unc5c	UTSW	3	141,463,554 (GRCm39)	missense	probably damaging	1.00
R5559:Unc5c	UTSW	3	141,509,548 (GRCm39)	missense	probably damaging	1.00
R5562:Unc5c	UTSW	3	141,474,291 (GRCm39)	missense	probably damaging	1.00
R5643:Unc5c	UTSW	3	141,383,886 (GRCm39)	missense	probably damaging	1.00
R5644:Unc5c	UTSW	3	141,383,886 (GRCm39)	missense	probably damaging	1.00
R5775:Unc5c	UTSW	3	141,534,281 (GRCm39)	missense	probably damaging	1.00
R5912:Unc5c	UTSW	3	141,494,767 (GRCm39)	missense	probably damaging	1.00
R6154:Unc5c	UTSW	3	141,383,914 (GRCm39)	missense	probably damaging	0.97
R6547:Unc5c	UTSW	3	141,495,780 (GRCm39)	missense	probably benign	0.16
R6558:Unc5c	UTSW	3	141,495,490 (GRCm39)	missense	probably damaging	0.98
R7104:Unc5c	UTSW	3	141,439,665 (GRCm39)	missense	probably damaging	1.00
R7113:Unc5c	UTSW	3	141,507,054 (GRCm39)	missense	probably benign	0.00
R7282:Unc5c	UTSW	3	141,383,751 (GRCm39)	missense	probably damaging	0.98
R7317:Unc5c	UTSW	3	141,495,703 (GRCm39)	missense	probably benign	0.00
R7787:Unc5c	UTSW	3	141,474,313 (GRCm39)	missense	probably damaging	1.00
R7873:Unc5c	UTSW	3	141,533,310 (GRCm39)	missense	probably benign	0.04
R7896:Unc5c	UTSW	3	141,476,922 (GRCm39)	missense	possibly damaging	0.73
R7936:Unc5c	UTSW	3	141,534,238 (GRCm39)	missense	possibly damaging	0.48
R8041:Unc5c	UTSW	3	141,171,545 (GRCm39)	missense	possibly damaging	0.92
R8277:Unc5c	UTSW	3	141,474,373 (GRCm39)	critical splice donor site	probably null
R8669:Unc5c	UTSW	3	141,509,704 (GRCm39)	missense	possibly damaging	0.91
R8886:Unc5c	UTSW	3	141,509,581 (GRCm39)	missense	probably benign	0.02
R8989:Unc5c	UTSW	3	141,509,467 (GRCm39)	splice site	probably benign
R9244:Unc5c	UTSW	3	141,533,370 (GRCm39)	missense	probably benign	0.00
R9444:Unc5c	UTSW	3	141,507,209 (GRCm39)	critical splice donor site	probably null
R9508:Unc5c	UTSW	3	141,494,736 (GRCm39)	missense	possibly damaging	0.75
R9524:Unc5c	UTSW	3	141,494,683 (GRCm39)	missense	possibly damaging	0.56
R9633:Unc5c	UTSW	3	141,495,654 (GRCm39)	missense	probably damaging	0.99
X0018:Unc5c	UTSW	3	141,420,500 (GRCm39)	missense	probably damaging	1.00
X0065:Unc5c	UTSW	3	141,533,422 (GRCm39)	missense	probably damaging	1.00
Z1088:Unc5c	UTSW	3	141,439,661 (GRCm39)	missense	probably damaging	1.00
Z1176:Unc5c	UTSW	3	141,383,771 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTTCCACTGAAAAGCCACAGTC -3'
(R):5'- CACCTGGATGATACAAATGGC -3'

Sequencing Primer
(F):5'- GCCACAGTCATTTTATATAGCTTTTG -3'
(R):5'- CCTGGATGATACAAATGGCATTTAG -3'

Posted On

2016-04-15