Mutagenetix > Incidental Mutation

Incidental Mutation 'R4720:Unc5a'

354399

Institutional Source

Beutler Lab

Gene Symbol

Unc5a

Ensembl Gene

ENSMUSG00000025876

Gene Name

unc-5 netrin receptor A

Synonyms

Unc5h1

MMRRC Submission

041958-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4720 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55097224-55153831 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55151696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 709 (W709R)

Ref Sequence

ENSEMBL: ENSMUSP00000105621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026994] [ENSMUST00000052949] [ENSMUST00000109994] [ENSMUST00000123097] [ENSMUST00000126234] [ENSMUST00000132309] [ENSMUST00000136852] [ENSMUST00000137967] [ENSMUST00000153665]

AlphaFold

Q8K1S4

Predicted Effect

probably null
Transcript: ENSMUST00000026994
AA Change: W765R

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026994
Gene: ENSMUSG00000025876
AA Change: W765R

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
SCOP:d1biha1	44	143	1e-4	SMART
IG	155	240	1.8e-5	SMART
TSP1	245	296	1.25e-14	SMART
TSP1	301	350	1.98e-8	SMART
transmembrane domain	360	382	N/A	INTRINSIC
ZU5	495	598	3.68e-58	SMART
DEATH	805	896	5.86e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000052949

SMART Domains

Protein: ENSMUSP00000051215
Gene: ENSMUSG00000025877

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	29	232	3.7e-76	PFAM
Pfam:Hexokinase_2	234	473	1.9e-87	PFAM
Pfam:Hexokinase_1	475	674	2.2e-77	PFAM
Pfam:Hexokinase_2	676	915	2.3e-103	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109994
AA Change: W709R

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

SMART Domains

Protein: ENSMUSP00000105621
Gene: ENSMUSG00000025876
AA Change: W709R

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
SCOP:d1biha1	44	143	1e-4	SMART
IG	155	240	1.8e-5	SMART
TSP1	245	294	1.98e-8	SMART
transmembrane domain	305	327	N/A	INTRINSIC
ZU5	439	542	3.68e-58	SMART
DEATH	749	840	5.86e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123097

SMART Domains

Protein: ENSMUSP00000116717
Gene: ENSMUSG00000025877

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	29	232	3.3e-77	PFAM
Pfam:Hexokinase_2	234	457	6e-74	PFAM
Pfam:Hexokinase_1	430	629	3e-78	PFAM
Pfam:Hexokinase_2	631	870	1e-104	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126234

SMART Domains

Protein: ENSMUSP00000123233
Gene: ENSMUSG00000025877

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	31	230	2.4e-63	PFAM
Pfam:Hexokinase_2	236	470	2.9e-62	PFAM
Pfam:Hexokinase_1	480	673	2e-69	PFAM
Pfam:Hexokinase_2	678	912	1.5e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132309

SMART Domains

Protein: ENSMUSP00000117254
Gene: ENSMUSG00000025877

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	29	164	4.1e-39	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000136852

SMART Domains

Protein: ENSMUSP00000116585
Gene: ENSMUSG00000025876

Domain	Start	End	E-Value	Type
low complexity region	1	14	N/A	INTRINSIC
TSP1	20	70	1.23e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142906

Predicted Effect

probably null
Transcript: ENSMUST00000137967
AA Change: W40R

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115531
Gene: ENSMUSG00000025876
AA Change: W40R

Domain	Start	End	E-Value	Type
PDB:3G5B\|A	1	118	6e-36	PDB
Blast:DEATH	80	119	9e-22	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000153665

SMART Domains

Protein: ENSMUSP00000115227
Gene: ENSMUSG00000025877

Domain	Start	End	E-Value	Type
Pfam:Hexokinase_1	1	177	8.5e-70	PFAM
Pfam:Hexokinase_2	179	418	9.4e-88	PFAM
Pfam:Hexokinase_1	420	619	1.2e-77	PFAM
Pfam:Hexokinase_2	621	860	1.1e-103	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[supplied by OMIM, Apr 2004]
PHENOTYPE: Homozygous null mice are viable through adulthood but display decreased apoptotic cell death, supernumerary neurons and morphological alterations in the embryonic cervical spinal cord. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,018,248 (GRCm39)	I1124T	probably damaging	Het
Acacb	A	G	5: 114,367,975 (GRCm39)	T1658A	possibly damaging	Het
Acvrl1	C	A	15: 101,033,654 (GRCm39)	P112Q	probably damaging	Het
Ankar	A	T	1: 72,738,170 (GRCm39)	I4K	possibly damaging	Het
Ankfn1	G	C	11: 89,332,252 (GRCm39)	D431E	possibly damaging	Het
Apobec4	T	C	1: 152,632,425 (GRCm39)	V151A	possibly damaging	Het
Atp10b	A	G	11: 43,093,949 (GRCm39)	S498G	probably benign	Het
Azin1	A	G	15: 38,493,744 (GRCm39)	V293A	probably benign	Het
Ccdc88b	T	C	19: 6,835,083 (GRCm39)	E46G	probably damaging	Het
Ccdc96	T	C	5: 36,642,219 (GRCm39)		probably benign	Het
Ccnyl1	A	G	1: 64,752,290 (GRCm39)	D169G	probably benign	Het
Cdca3	T	A	6: 124,809,127 (GRCm39)	V89E	probably damaging	Het
Cdh19	A	T	1: 110,823,111 (GRCm39)		probably null	Het
Chka	G	A	19: 3,936,375 (GRCm39)	V238I	probably damaging	Het
Cntn3	T	C	6: 102,218,983 (GRCm39)	K546E	possibly damaging	Het
Crybg3	A	G	16: 59,360,180 (GRCm39)	V787A	probably damaging	Het
Dlgap3	T	C	4: 127,089,508 (GRCm39)		probably null	Het
Dnah8	C	T	17: 30,902,608 (GRCm39)	L889F	probably benign	Het
Dnah9	T	C	11: 65,967,184 (GRCm39)	E1658G	probably damaging	Het
Dnajc11	A	G	4: 152,052,996 (GRCm39)	D102G	probably damaging	Het
Dync1i2	T	G	2: 71,064,018 (GRCm39)	S121A	probably damaging	Het
Ece1	G	A	4: 137,684,486 (GRCm39)	E591K	probably damaging	Het
Enthd1	G	A	15: 80,444,510 (GRCm39)	S15L	probably damaging	Het
Epb41l2	T	A	10: 25,347,524 (GRCm39)	H372Q	probably damaging	Het
Errfi1	T	A	4: 150,951,204 (GRCm39)	Y211N	probably damaging	Het
Fam193b	G	A	13: 55,691,250 (GRCm39)	T208M	probably benign	Het
Flacc1	T	C	1: 58,717,507 (GRCm39)	I135V	possibly damaging	Het
Fmnl2	C	T	2: 52,997,552 (GRCm39)	T501M	possibly damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm4841	G	T	18: 60,403,135 (GRCm39)	D319E	probably benign	Het
Gucd1	A	G	10: 75,345,494 (GRCm39)	F187S	probably damaging	Het
Hcar2	GCGGATGCGCAC	GC	5: 124,002,752 (GRCm39)		probably null	Het
Helz2	T	C	2: 180,880,210 (GRCm39)	D502G	probably damaging	Het
Hspa2	A	G	12: 76,451,639 (GRCm39)	E111G	possibly damaging	Het
Htr2a	T	A	14: 74,882,499 (GRCm39)	S162T	probably damaging	Het
Ift80	A	G	3: 68,869,623 (GRCm39)	Y223H	possibly damaging	Het
Il1rl1	A	G	1: 40,485,838 (GRCm39)	K330E	probably benign	Het
Il23r	A	T	6: 67,400,645 (GRCm39)	F562I	probably damaging	Het
Isx	T	C	8: 75,600,487 (GRCm39)		probably null	Het
Jcad	G	A	18: 4,674,055 (GRCm39)	V606I	probably benign	Het
Kcnn2	A	T	18: 45,816,187 (GRCm39)	T333S	possibly damaging	Het
Kcnq5	C	T	1: 21,473,274 (GRCm39)	A630T	probably damaging	Het
Kif2c	T	C	4: 117,028,946 (GRCm39)	M188V	probably benign	Het
Kntc1	T	C	5: 123,903,086 (GRCm39)	V321A	possibly damaging	Het
Krtap4-8	A	T	11: 99,671,271 (GRCm39)		probably benign	Het
Lcor	G	C	19: 41,574,334 (GRCm39)	A1030P	probably benign	Het
Lgals3bp	A	C	11: 118,289,295 (GRCm39)	L52R	probably damaging	Het
Lipk	C	A	19: 33,999,099 (GRCm39)	H126Q	probably damaging	Het
Lpgat1	T	C	1: 191,495,779 (GRCm39)	Y323H	probably damaging	Het
Lrp2	T	G	2: 69,311,517 (GRCm39)	N2654H	probably damaging	Het
Lsm14b	C	T	2: 179,669,774 (GRCm39)	Q6*	probably null	Het
Lysmd3	C	T	13: 81,817,584 (GRCm39)	A187V	possibly damaging	Het
Map2k5	A	G	9: 63,201,001 (GRCm39)	S211P	probably damaging	Het
Mlph	A	T	1: 90,869,419 (GRCm39)	I474F	probably damaging	Het
Mpped2	T	C	2: 106,614,091 (GRCm39)	S142P	probably damaging	Het
Nemf	A	C	12: 69,371,062 (GRCm39)	M678R	probably benign	Het
Nfe2l1	A	T	11: 96,718,515 (GRCm39)	Y7N	probably damaging	Het
Nfkbie	T	G	17: 45,867,232 (GRCm39)	D122E	probably benign	Het
Noc3l	C	A	19: 38,778,066 (GRCm39)	A783S	probably benign	Het
Nol8	T	C	13: 49,816,229 (GRCm39)	V761A	probably damaging	Het
Nvl	A	G	1: 180,929,152 (GRCm39)	L743P	probably damaging	Het
Or1j1	T	A	2: 36,702,484 (GRCm39)	I207F	probably benign	Het
Plcb1	A	G	2: 135,093,667 (GRCm39)	K160R	possibly damaging	Het
Plekhg3	G	T	12: 76,625,096 (GRCm39)	G1313C	possibly damaging	Het
Plekhh1	GTCAAA	G	12: 79,122,194 (GRCm39)		probably null	Het
Popdc3	G	A	10: 45,191,002 (GRCm39)	V38I	probably benign	Het
Prdx3	A	T	19: 60,858,551 (GRCm39)	V114D	possibly damaging	Het
Prkdc	T	A	16: 15,485,579 (GRCm39)	S469T	probably benign	Het
Rbm22	G	A	18: 60,697,463 (GRCm39)	R56H	probably damaging	Het
Reln	A	T	5: 22,491,894 (GRCm39)	F113I	possibly damaging	Het
Rims1	A	G	1: 22,497,731 (GRCm39)	Y808H	probably damaging	Het
Rsbn1	C	A	3: 103,836,336 (GRCm39)	T458N	possibly damaging	Het
Serpina3b	A	G	12: 104,096,889 (GRCm39)	S57G	possibly damaging	Het
Skor2	G	T	18: 76,948,878 (GRCm39)		probably null	Het
Slc22a4	A	T	11: 53,879,719 (GRCm39)	Y447N	probably damaging	Het
Slco1a7	C	A	6: 141,668,948 (GRCm39)	A495S	probably damaging	Het
Stx19	G	T	16: 62,642,682 (GRCm39)	R166L	probably damaging	Het
Svep1	T	C	4: 58,205,869 (GRCm39)	T170A	possibly damaging	Het
Sycp2	T	G	2: 178,016,225 (GRCm39)	S746R	probably benign	Het
Tchh	G	T	3: 93,355,189 (GRCm39)	R1543L	unknown	Het
Tjp2	T	C	19: 24,078,169 (GRCm39)	D908G	probably damaging	Het
Ttc8	C	A	12: 98,946,068 (GRCm39)	A452E	possibly damaging	Het
Unc80	T	A	1: 66,549,951 (GRCm39)	S736R	possibly damaging	Het
Vmn2r100	C	A	17: 19,742,788 (GRCm39)	H387Q	probably benign	Het
Vmn2r39	C	T	7: 9,026,469 (GRCm39)		probably null	Het
Vmn2r88	T	A	14: 51,650,702 (GRCm39)	D138E	probably benign	Het
Vwce	T	C	19: 10,625,831 (GRCm39)	F448L	possibly damaging	Het
Wdr75	C	T	1: 45,861,645 (GRCm39)	S695F	probably benign	Het
Zfand4	T	C	6: 116,265,122 (GRCm39)		probably null	Het
Zfp511	T	A	7: 139,617,424 (GRCm39)		probably null	Het
Zfyve9	T	C	4: 108,501,565 (GRCm39)	K584E	possibly damaging	Het

Other mutations in Unc5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Unc5a	APN	13	55,143,633 (GRCm39)	missense	probably benign	0.00
IGL00339:Unc5a	APN	13	55,143,628 (GRCm39)	missense	possibly damaging	0.89
IGL00924:Unc5a	APN	13	55,152,327 (GRCm39)	missense	probably damaging	0.99
IGL01411:Unc5a	APN	13	55,150,741 (GRCm39)	missense	probably damaging	1.00
IGL01511:Unc5a	APN	13	55,152,629 (GRCm39)	missense	probably damaging	0.97
IGL02430:Unc5a	APN	13	55,150,295 (GRCm39)	missense	probably damaging	1.00
IGL02996:Unc5a	APN	13	55,143,991 (GRCm39)	missense	probably damaging	0.99
IGL03188:Unc5a	APN	13	55,147,316 (GRCm39)	missense	probably damaging	0.98
PIT1430001:Unc5a	UTSW	13	55,151,709 (GRCm39)	missense	probably damaging	1.00
PIT4378001:Unc5a	UTSW	13	55,143,681 (GRCm39)	missense	possibly damaging	0.95
R0009:Unc5a	UTSW	13	55,150,692 (GRCm39)	missense	probably damaging	1.00
R0009:Unc5a	UTSW	13	55,150,692 (GRCm39)	missense	probably damaging	1.00
R0028:Unc5a	UTSW	13	55,151,726 (GRCm39)	missense	possibly damaging	0.70
R0505:Unc5a	UTSW	13	55,152,767 (GRCm39)	missense	probably damaging	1.00
R0744:Unc5a	UTSW	13	55,151,746 (GRCm39)	missense	possibly damaging	0.92
R0745:Unc5a	UTSW	13	55,153,068 (GRCm39)	frame shift	probably null
R0836:Unc5a	UTSW	13	55,151,746 (GRCm39)	missense	possibly damaging	0.92
R1018:Unc5a	UTSW	13	55,138,765 (GRCm39)	missense	possibly damaging	0.81
R1432:Unc5a	UTSW	13	55,152,285 (GRCm39)	unclassified	probably benign
R1469:Unc5a	UTSW	13	55,144,232 (GRCm39)	missense	probably damaging	1.00
R1469:Unc5a	UTSW	13	55,144,232 (GRCm39)	missense	probably damaging	1.00
R1691:Unc5a	UTSW	13	55,150,737 (GRCm39)	missense	probably damaging	1.00
R2132:Unc5a	UTSW	13	55,138,896 (GRCm39)	missense	probably damaging	0.96
R4020:Unc5a	UTSW	13	55,151,182 (GRCm39)	missense	probably damaging	1.00
R4080:Unc5a	UTSW	13	55,152,294 (GRCm39)	missense	possibly damaging	0.62
R4876:Unc5a	UTSW	13	55,145,042 (GRCm39)	missense	probably benign
R4953:Unc5a	UTSW	13	55,147,683 (GRCm39)	missense	probably benign	0.02
R5112:Unc5a	UTSW	13	55,151,231 (GRCm39)	critical splice donor site	probably null
R5593:Unc5a	UTSW	13	55,152,747 (GRCm39)	missense	possibly damaging	0.91
R5903:Unc5a	UTSW	13	55,147,503 (GRCm39)	missense	possibly damaging	0.92
R6521:Unc5a	UTSW	13	55,152,748 (GRCm39)	missense	probably benign	0.01
R6723:Unc5a	UTSW	13	55,143,702 (GRCm39)	missense	probably benign	0.23
R7038:Unc5a	UTSW	13	55,152,297 (GRCm39)	missense	probably damaging	1.00
R7065:Unc5a	UTSW	13	55,138,896 (GRCm39)	missense	probably damaging	1.00
R7241:Unc5a	UTSW	13	55,138,833 (GRCm39)	missense	probably damaging	1.00
R7365:Unc5a	UTSW	13	55,144,386 (GRCm39)	missense	possibly damaging	0.80
R7487:Unc5a	UTSW	13	55,144,362 (GRCm39)	missense	probably benign	0.40
R7980:Unc5a	UTSW	13	55,147,319 (GRCm39)	missense	possibly damaging	0.57
R8032:Unc5a	UTSW	13	55,144,299 (GRCm39)	missense	possibly damaging	0.65
R8087:Unc5a	UTSW	13	55,143,985 (GRCm39)	missense	probably damaging	1.00
R8910:Unc5a	UTSW	13	55,151,401 (GRCm39)	missense	possibly damaging	0.66
R9126:Unc5a	UTSW	13	55,145,774 (GRCm39)	missense	possibly damaging	0.80
R9492:Unc5a	UTSW	13	55,150,288 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAGCTCCTTGTCAGCTACC -3'
(R):5'- TCCCCAGAAACTTGGAAGAAG -3'

Sequencing Primer
(F):5'- CCTTGTCAGCTACCAGGTG -3'
(R):5'- AGCTAGAAGGGGCAGCTC -3'

Posted On

2015-10-21