Mutagenetix > Incidental Mutation

Incidental Mutation 'R0836:Unc5a'

77943

Institutional Source

Beutler Lab

Gene Symbol

Unc5a

Ensembl Gene

ENSMUSG00000025876

Gene Name

unc-5 netrin receptor A

Synonyms

Unc5h1

MMRRC Submission

039015-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0836 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55097224-55153831 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 55151746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 56 (N56K)

Ref Sequence

ENSEMBL: ENSMUSP00000115531 (fasta)

Gene Model

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

AlphaFold

Q8K1S4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026994
AA Change: N781K

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000026994
Gene: ENSMUSG00000025876
AA Change: N781K

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

possibly damaging
Transcript: ENSMUST00000109994
AA Change: N725K

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105621
Gene: ENSMUSG00000025876
AA Change: N725K

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 benign
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

possibly damaging
Transcript: ENSMUST00000137967
AA Change: N56K

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

SMART Domains

Protein: ENSMUSP00000115531
Gene: ENSMUSG00000025876
AA Change: N56K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142906

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

Meta Mutation Damage Score

0.0975

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.2%

Validation Efficiency

100% (102/102)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	A	G	5: 139,349,875 (GRCm39)	V58A	possibly damaging	Het
4932415M13Rik	A	T	17: 54,031,374 (GRCm39)		noncoding transcript	Het
A930003A15Rik	T	C	16: 19,702,622 (GRCm39)		noncoding transcript	Het
Abca8a	A	T	11: 109,931,390 (GRCm39)	D1253E	possibly damaging	Het
Acsm3	T	C	7: 119,376,323 (GRCm39)	I350T	possibly damaging	Het
Adcy9	T	C	16: 4,237,135 (GRCm39)	D92G	possibly damaging	Het
Aldh9a1	G	A	1: 167,177,824 (GRCm39)	G7D	probably benign	Het
Alg14	A	G	3: 121,092,259 (GRCm39)	H34R	probably damaging	Het
Ankrd27	A	G	7: 35,307,772 (GRCm39)	N337S	probably damaging	Het
Apoa2	T	A	1: 171,052,948 (GRCm39)		probably benign	Het
Asphd2	A	T	5: 112,539,635 (GRCm39)	L66H	probably damaging	Het
Astl	T	C	2: 127,184,339 (GRCm39)	F21L	probably benign	Het
Bptf	C	A	11: 107,001,638 (GRCm39)		probably null	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cadps2	T	C	6: 23,328,775 (GRCm39)		probably benign	Het
Camk4	G	T	18: 33,072,507 (GRCm39)	S20I	unknown	Het
Ccdc85a	T	A	11: 28,533,296 (GRCm39)	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,730,131 (GRCm39)	M336K	probably benign	Het
Cd209e	G	T	8: 3,903,205 (GRCm39)	D62E	probably benign	Het
Ceacam23	C	A	7: 17,638,906 (GRCm39)	A301E	possibly damaging	Het
Ces1f	A	T	8: 93,996,652 (GRCm39)	S214T	probably damaging	Het
Cfap43	C	A	19: 47,804,285 (GRCm39)	V304L	probably benign	Het
Col26a1	A	G	5: 136,794,154 (GRCm39)		probably null	Het
Cpa5	T	C	6: 30,623,210 (GRCm39)	S124P	probably damaging	Het
Crtc1	A	G	8: 70,845,663 (GRCm39)	V306A	probably benign	Het
D130043K22Rik	G	A	13: 25,047,563 (GRCm39)		probably benign	Het
D17H6S53E	A	T	17: 35,346,385 (GRCm39)		probably null	Het
Dmxl1	T	C	18: 49,966,215 (GRCm39)	V20A	probably damaging	Het
Dnah11	G	A	12: 118,160,397 (GRCm39)	A111V	probably benign	Het
Dyrk2	T	C	10: 118,697,027 (GRCm39)	H77R	probably benign	Het
Epha3	A	G	16: 63,423,882 (GRCm39)		probably benign	Het
Epn2	T	C	11: 61,410,317 (GRCm39)	N611S	probably benign	Het
Erich6	A	C	3: 58,526,365 (GRCm39)		probably benign	Het
Fam217b	T	C	2: 178,062,782 (GRCm39)	S249P	probably benign	Het
Fezf1	T	C	6: 23,246,998 (GRCm39)	H278R	probably benign	Het
Fhod3	T	A	18: 25,199,275 (GRCm39)	Y649N	probably damaging	Het
Ftdc2	G	A	16: 58,455,886 (GRCm39)	S129L	probably damaging	Het
Grap	T	A	11: 61,551,065 (GRCm39)	D32E	possibly damaging	Het
Hipk1	A	G	3: 103,661,612 (GRCm39)	S670P	probably damaging	Het
Iho1	A	T	9: 108,282,000 (GRCm39)	C563S	probably benign	Het
Ilrun	A	T	17: 28,005,112 (GRCm39)	S148R	probably damaging	Het
Itga2	A	G	13: 114,993,215 (GRCm39)	V800A	probably damaging	Het
Itgae	A	T	11: 73,020,032 (GRCm39)	M845L	probably benign	Het
Itgb5	A	G	16: 33,720,953 (GRCm39)	K339R	probably damaging	Het
Itpka	T	A	2: 119,581,312 (GRCm39)	N448K	probably damaging	Het
Jak3	A	C	8: 72,136,622 (GRCm39)	N643T	probably damaging	Het
Kcnd2	T	A	6: 21,727,328 (GRCm39)	V627E	probably damaging	Het
Kcnd2	T	C	6: 21,726,238 (GRCm39)		probably benign	Het
Ktn1	A	G	14: 47,938,519 (GRCm39)		probably null	Het
Lamp1	T	A	8: 13,222,654 (GRCm39)	F279L	probably damaging	Het
Macf1	A	G	4: 123,388,675 (GRCm39)		probably null	Het
Mark2	A	G	19: 7,263,189 (GRCm39)	Y193H	probably damaging	Het
Mcrs1	T	C	15: 99,141,330 (GRCm39)		probably benign	Het
Mtnr1a	A	T	8: 45,540,974 (GRCm39)	I312F	probably benign	Het
Myom2	A	T	8: 15,182,924 (GRCm39)	K1454*	probably null	Het
Nfkbia	C	A	12: 55,537,561 (GRCm39)	A211S	probably damaging	Het
Or52ae9	T	C	7: 103,390,132 (GRCm39)	H105R	probably damaging	Het
Or56b1b	T	C	7: 108,164,205 (GRCm39)	T266A	possibly damaging	Het
Or8b1c	A	T	9: 38,384,081 (GRCm39)	I13F	probably benign	Het
Otog	C	T	7: 45,918,786 (GRCm39)	T954I	possibly damaging	Het
Phlpp2	A	G	8: 110,663,738 (GRCm39)	T926A	probably damaging	Het
Plec	GGCAGCAG	GGCAGCAGCAG	15: 76,066,107 (GRCm39)		probably benign	Het
Plekha5	T	A	6: 140,535,360 (GRCm39)		probably benign	Het
Pmch	A	G	10: 87,927,086 (GRCm39)	I30V	probably benign	Het
Ppat	A	C	5: 77,070,348 (GRCm39)	Y157D	probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Rab27b	T	C	18: 70,120,112 (GRCm39)		probably benign	Het
Rapsn	T	C	2: 90,867,153 (GRCm39)	Y152H	probably damaging	Het
Rasd1	A	T	11: 59,855,379 (GRCm39)	F85I	probably damaging	Het
Rbp3	T	G	14: 33,678,595 (GRCm39)	S848A	possibly damaging	Het
Rgs1	A	T	1: 144,123,671 (GRCm39)	S85T	probably damaging	Het
Rictor	A	G	15: 6,793,759 (GRCm39)		probably null	Het
Rims1	T	C	1: 22,497,709 (GRCm39)		probably null	Het
Shc1	A	G	3: 89,330,276 (GRCm39)	D70G	probably damaging	Het
Slc22a28	T	C	19: 8,094,197 (GRCm39)	Y245C	possibly damaging	Het
Slc25a1	T	A	16: 17,745,300 (GRCm39)	H78L	probably benign	Het
Slc30a7	T	A	3: 115,783,789 (GRCm39)		probably null	Het
Slc34a2	A	G	5: 53,225,049 (GRCm39)	T397A	probably benign	Het
Slc51a	T	A	16: 32,294,667 (GRCm39)	T306S	probably benign	Het
Sorcs3	G	A	19: 48,475,833 (GRCm39)	V231I	probably benign	Het
Sp100	A	T	1: 85,627,465 (GRCm39)	I86L	probably damaging	Het
Spata31e5	A	G	1: 28,816,902 (GRCm39)	S377P	possibly damaging	Het
Stard9	T	G	2: 120,527,480 (GRCm39)	S1246A	possibly damaging	Het
Stxbp5	A	T	10: 9,740,843 (GRCm39)	S116R	probably damaging	Het
Tas2r105	T	C	6: 131,664,393 (GRCm39)	I12V	probably benign	Het
Tas2r121	A	G	6: 132,677,325 (GRCm39)	S216P	probably damaging	Het
Tax1bp1	C	T	6: 52,718,925 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,978,904 (GRCm39)	D48G	probably damaging	Het
Tex24	A	T	8: 27,834,748 (GRCm39)	H92L	possibly damaging	Het
Tgm3	C	T	2: 129,868,602 (GRCm39)		probably benign	Het
Thbs4	T	G	13: 92,894,546 (GRCm39)	D659A	probably damaging	Het
Tmed11	A	T	5: 108,943,175 (GRCm39)	M1K	probably null	Het
Tmpo	A	T	10: 90,997,815 (GRCm39)	C657*	probably null	Het
Urb1	T	C	16: 90,592,336 (GRCm39)	D308G	possibly damaging	Het
Vav3	A	G	3: 109,554,995 (GRCm39)	N81S	possibly damaging	Het
Vmn2r108	A	T	17: 20,691,721 (GRCm39)	D267E	probably benign	Het
Vmn2r17	A	T	5: 109,575,822 (GRCm39)	H231L	possibly damaging	Het
Wrn	A	G	8: 33,785,034 (GRCm39)	I446T	possibly damaging	Het
Zfp266	G	A	9: 20,411,095 (GRCm39)	H361Y	probably 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
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
R4720:Unc5a	UTSW	13	55,151,696 (GRCm39)	missense	probably null	1.00
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'- AGAGCAAGCTCCTTGTCAGCTACC -3'
(R):5'- ACCAGTTAGAACTCTGACCCCTGC -3'

Sequencing Primer
(F):5'- TTGTCAGCTACCAGGTGAGAC -3'
(R):5'- ATCTCAGAGATGAAGTCACCTG -3'

Posted On

2013-10-16