Mutagenetix > Incidental Mutation

Incidental Mutation 'R0907:Unc5c'

83350

Institutional Source

Beutler Lab

Gene Symbol

Unc5c

Ensembl Gene

ENSMUSG00000059921

Gene Name

unc-5 netrin receptor C

Synonyms

B130051O18Rik, Unc5h3

MMRRC Submission

039065-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0907 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141171360-141540685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141494794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 369 (Q369R)

Ref Sequence

ENSEMBL: ENSMUSP00000117487 (fasta)

Gene Model

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

AlphaFold

O08747

Predicted Effect

probably benign
Transcript: ENSMUST00000075282
AA Change: Q443R

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000074758
Gene: ENSMUSG00000059921
AA Change: Q443R

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: Q424R

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000101843
Gene: ENSMUSG00000059921
AA Change: Q424R

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: Q369R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117487
Gene: ENSMUSG00000059921
AA Change: Q369R

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 benign
Transcript: ENSMUST00000142762
AA Change: Q443R

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000118212
Gene: ENSMUSG00000059921
AA Change: Q443R

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

0.1074

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (34/34)

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
Abl2	G	A	1: 156,457,429 (GRCm39)	V225M	probably damaging	Het
Afmid	T	A	11: 117,726,416 (GRCm39)		probably benign	Het
Ccdc191	G	A	16: 43,735,901 (GRCm39)	V216I	probably benign	Het
Cep112	C	A	11: 108,461,258 (GRCm39)		probably benign	Het
Dcbld1	T	C	10: 52,137,910 (GRCm39)	V58A	possibly damaging	Het
Dop1b	A	T	16: 93,598,481 (GRCm39)	H1882L	probably damaging	Het
Fat1	A	G	8: 45,479,635 (GRCm39)	I2894V	probably benign	Het
Focad	T	C	4: 88,196,498 (GRCm39)		probably null	Het
Gm45713	G	A	7: 44,781,788 (GRCm39)	T203M	possibly damaging	Het
Gstm1	T	C	3: 107,924,696 (GRCm39)	Y28C	probably damaging	Het
Gucy1a1	T	C	3: 82,018,498 (GRCm39)	D113G	probably benign	Het
Hat1	G	T	2: 71,250,961 (GRCm39)	E170*	probably null	Het
Herc1	C	A	9: 66,340,710 (GRCm39)	F1686L	possibly damaging	Het
Iffo1	A	G	6: 125,130,124 (GRCm39)	E270G	probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrp3	A	T	7: 34,902,718 (GRCm39)	Y522N	probably damaging	Het
Lrp6	A	T	6: 134,484,488 (GRCm39)	D378E	probably damaging	Het
Mmrn1	A	G	6: 60,950,103 (GRCm39)	N351S	probably benign	Het
Or1e16	A	T	11: 73,285,945 (GRCm39)	L301Q	probably damaging	Het
Or9q1	T	C	19: 13,805,220 (GRCm39)	D180G	probably damaging	Het
Pcnx3	T	C	19: 5,721,553 (GRCm39)	K1082E	possibly damaging	Het
Pikfyve	T	C	1: 65,241,989 (GRCm39)	V243A	possibly damaging	Het
Qdpr	G	C	5: 45,596,728 (GRCm39)	I145M	probably benign	Het
Rasgrp3	G	T	17: 75,816,822 (GRCm39)		probably null	Het
Rd3l	G	T	12: 111,946,574 (GRCm39)	Y1*	probably null	Het
Sf3b3	A	G	8: 111,538,142 (GRCm39)		probably benign	Het
Smn1	C	T	13: 100,264,404 (GRCm39)	T45I	probably damaging	Het
Sprr3	A	T	3: 92,364,316 (GRCm39)	I176N	probably benign	Het
Sv2c	T	C	13: 96,224,763 (GRCm39)	D182G	probably damaging	Het
Tnni3k	A	T	3: 154,647,316 (GRCm39)	V397D	probably damaging	Het
Trpt1	G	T	19: 6,976,308 (GRCm39)	G235V	possibly damaging	Het
Ttll10	A	T	4: 156,120,621 (GRCm39)	C367*	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
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
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'- TCCTGACTCAGATGATGTGGCTCTC -3'
(R):5'- TGCAGGTGGACAGATCAAAGGCTC -3'

Sequencing Primer
(F):5'- ACCGTGACTTTGAGTCTGAC -3'
(R):5'- TGCCTTGGGATCTAATCATGAC -3'

Posted On

2013-11-08