Mutagenetix > Incidental Mutation

Incidental Mutation 'R4284:Unc5c'

321980

Institutional Source

Beutler Lab

Gene Symbol

Unc5c

Ensembl Gene

ENSMUSG00000059921

Gene Name

unc-5 netrin receptor C

Synonyms

B130051O18Rik, Unc5h3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4284 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141171360-141540685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141420435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 52 (I52T)

Ref Sequence

ENSEMBL: ENSMUSP00000117487 (fasta)

Gene Model

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

AlphaFold

O08747

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075282
AA Change: I126T

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074758
Gene: ENSMUSG00000059921
AA Change: I126T

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: I126T

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101843
Gene: ENSMUSG00000059921
AA Change: I126T

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: I52T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117487
Gene: ENSMUSG00000059921
AA Change: I52T

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: I126T

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118212
Gene: ENSMUSG00000059921
AA Change: I126T

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

0.3926

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.7%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	G	A	3: 116,545,827 (GRCm39)	S1323L	possibly damaging	Het
Capg	T	C	6: 72,538,082 (GRCm39)	Y323H	probably damaging	Het
Cdh23	T	C	10: 60,139,272 (GRCm39)	T3314A	possibly damaging	Het
Cilp	A	T	9: 65,185,560 (GRCm39)	T552S	probably damaging	Het
Cox16	T	C	12: 81,521,293 (GRCm39)		probably null	Het
Ctu2	G	A	8: 123,204,978 (GRCm39)	V88I	probably benign	Het
Elfn1	A	T	5: 139,958,069 (GRCm39)	K358*	probably null	Het
Enpp6	T	C	8: 47,522,050 (GRCm39)	F328S	probably damaging	Het
Galnt12	T	C	4: 47,104,231 (GRCm39)	L163P	probably damaging	Het
Gcfc2	G	A	6: 81,918,372 (GRCm39)	R354H	probably damaging	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,269 (GRCm39)		probably benign	Het
Ikbke	C	T	1: 131,203,515 (GRCm39)		probably null	Het
Il1rn	T	C	2: 24,239,557 (GRCm39)	L151P	probably damaging	Het
Jmjd6	T	C	11: 116,733,534 (GRCm39)	R48G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lilra6	T	C	7: 3,911,803 (GRCm39)	H285R	possibly damaging	Het
Lrp2	G	A	2: 69,310,438 (GRCm39)	R2712C	possibly damaging	Het
Magi3	C	A	3: 103,923,184 (GRCm39)	G1178*	probably null	Het
Memo1	T	C	17: 74,562,293 (GRCm39)		probably null	Het
Mug2	T	A	6: 122,040,632 (GRCm39)	D727E	probably benign	Het
Relch	A	G	1: 105,649,012 (GRCm39)	D717G	probably damaging	Het
Sema3c	A	G	5: 17,883,345 (GRCm39)	T318A	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc20a2	G	A	8: 23,051,365 (GRCm39)	R466Q	probably benign	Het
Slc25a51	C	T	4: 45,399,768 (GRCm39)	V141M	probably benign	Het
Sox5	T	C	6: 143,781,055 (GRCm39)	K570E	probably damaging	Het
Ssbp1	T	G	6: 40,454,851 (GRCm39)		probably null	Het
Sult5a1	A	G	8: 123,875,969 (GRCm39)	S116P	probably damaging	Het
Tktl2	T	A	8: 66,965,808 (GRCm39)	D455E	probably damaging	Het
Tm9sf1	T	C	14: 55,878,780 (GRCm39)	Y204C	probably damaging	Het
Tmem161a	A	G	8: 70,630,076 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,623,211 (GRCm39)	K13663*	probably null	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
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
R4921:Unc5c	UTSW	3	141,494,727 (GRCm39)	missense	probably damaging	1.00
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'- TGGAGCTCTTAGAAAGTGATAGGTG -3'
(R):5'- ATGCAGAACCCTGGGTTTGG -3'

Sequencing Primer
(F):5'- CTCTTAGAAAGTGATAGGTGAGAGGC -3'
(R):5'- ATCTTGAGTTAGATCTCTGGGCC -3'

Posted On

2015-06-20