Mutagenetix > Incidental Mutation

Incidental Mutation 'R5112:Unc5a'

393960

Institutional Source

Beutler Lab

Gene Symbol

Unc5a

Ensembl Gene

ENSMUSG00000025876

Gene Name

unc-5 netrin receptor A

Synonyms

Unc5h1

MMRRC Submission

042700-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5112 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55097224-55153831 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 55151231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105621 (fasta)

Gene Model

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

AlphaFold

Q8K1S4

Predicted Effect

probably null
Transcript: ENSMUST00000026994

SMART Domains

Protein: ENSMUSP00000026994
Gene: ENSMUSG00000025876

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

SMART Domains

Protein: ENSMUSP00000105621
Gene: ENSMUSG00000025876

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000137967

SMART Domains

Protein: ENSMUSP00000115531
Gene: ENSMUSG00000025876

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,328,383 (GRCm39)	K846R	probably damaging	Het
Acsbg3	T	A	17: 57,184,465 (GRCm39)	M80K	probably benign	Het
Acsm5	A	G	7: 119,136,502 (GRCm39)	K358E	possibly damaging	Het
Adam26a	A	T	8: 44,021,893 (GRCm39)	D532E	probably benign	Het
Adamts19	C	T	18: 59,164,876 (GRCm39)	R993*	probably null	Het
Akr1c13	A	G	13: 4,244,151 (GRCm39)	K68R	possibly damaging	Het
Amer3	T	A	1: 34,626,157 (GRCm39)	M132K	possibly damaging	Het
Ankrd2	A	G	19: 42,028,326 (GRCm39)	D38G	possibly damaging	Het
Ano7	G	A	1: 93,325,085 (GRCm39)	V546M	possibly damaging	Het
Aox1	G	A	1: 58,349,254 (GRCm39)		probably null	Het
Apc	T	A	18: 34,449,162 (GRCm39)	C1985*	probably null	Het
Astn1	C	T	1: 158,484,763 (GRCm39)	S15F	possibly damaging	Het
Atp13a4	A	T	16: 29,228,686 (GRCm39)	N950K	possibly damaging	Het
Bcl6	A	G	16: 23,791,496 (GRCm39)	V286A	probably benign	Het
Brox	T	A	1: 183,073,541 (GRCm39)	T79S	probably benign	Het
C2cd3	A	T	7: 100,092,692 (GRCm39)	I512F	possibly damaging	Het
Camta1	A	G	4: 151,158,511 (GRCm39)	L542S	probably damaging	Het
Capn13	GCA	G	17: 73,658,501 (GRCm39)		probably null	Het
Card10	C	T	15: 78,686,580 (GRCm39)		probably null	Het
Cd96	A	G	16: 45,919,301 (GRCm39)	M240T	probably benign	Het
Cdc123	A	G	2: 5,809,748 (GRCm39)	L221P	possibly damaging	Het
Cdh19	A	G	1: 110,882,354 (GRCm39)	V46A	possibly damaging	Het
Clcn3	G	A	8: 61,407,586 (GRCm39)	H24Y	probably benign	Het
Col11a2	T	C	17: 34,283,062 (GRCm39)		probably benign	Het
Cpsf3	A	T	12: 21,341,785 (GRCm39)	M50L	probably benign	Het
Csf3	T	A	11: 98,593,749 (GRCm39)	L197Q	probably damaging	Het
Ctsw	T	A	19: 5,516,285 (GRCm39)	D196V	probably damaging	Het
Dcun1d3	A	T	7: 119,457,250 (GRCm39)	I154K	probably damaging	Het
Ddr1	T	C	17: 35,993,377 (GRCm39)	T877A	probably benign	Het
Dnah8	T	A	17: 30,950,012 (GRCm39)	L1944I	probably benign	Het
Dpf3	G	T	12: 83,417,385 (GRCm39)	S29*	probably null	Het
Ephb1	A	G	9: 101,848,378 (GRCm39)	I640T	probably damaging	Het
Fat1	G	A	8: 45,477,319 (GRCm39)	G2099S	probably damaging	Het
Fbxo41	G	T	6: 85,454,906 (GRCm39)	N667K	probably damaging	Het
Flacc1	T	C	1: 58,698,441 (GRCm39)	T326A	probably benign	Het
Gart	A	T	16: 91,430,933 (GRCm39)	D376E	probably benign	Het
Glyr1	G	A	16: 4,836,740 (GRCm39)	Q475*	probably null	Het
Gm28051	G	A	12: 102,686,430 (GRCm39)	Q77*	probably null	Het
Gnmt	C	A	17: 47,037,256 (GRCm39)	R176L	probably damaging	Het
Gpr176	A	T	2: 118,110,629 (GRCm39)	V210D	possibly damaging	Het
Gtf2ird1	A	T	5: 134,431,038 (GRCm39)	D339E	probably damaging	Het
Hmbox1	A	G	14: 65,063,061 (GRCm39)	Y372H	probably damaging	Het
Ier2	G	T	8: 85,389,361 (GRCm39)	A7E	probably damaging	Het
Il20ra	A	G	10: 19,634,691 (GRCm39)	T311A	possibly damaging	Het
Il24	T	C	1: 130,811,179 (GRCm39)		probably null	Het
Insl6	G	A	19: 29,298,996 (GRCm39)	Q139*	probably null	Het
Itga2b	A	T	11: 102,349,017 (GRCm39)	I729K	probably damaging	Het
Itpr2	A	T	6: 146,135,489 (GRCm39)	M1814K	possibly damaging	Het
Klhl3	G	A	13: 58,166,703 (GRCm39)	S429F	probably damaging	Het
Lipo2	T	C	19: 33,725,865 (GRCm39)	N129S	probably benign	Het
Lrba	C	T	3: 86,132,678 (GRCm39)	T28M	probably benign	Het
Ly86	G	T	13: 37,559,013 (GRCm39)	G71C	probably damaging	Het
Maob	T	C	X: 16,582,662 (GRCm39)	T400A	probably benign	Het
Mical2	A	G	7: 111,919,818 (GRCm39)	S443G	probably damaging	Het
Mmp17	A	G	5: 129,679,229 (GRCm39)	H376R	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Myo7b	T	C	18: 32,116,640 (GRCm39)	H989R	probably damaging	Het
Neil2	A	G	14: 63,425,909 (GRCm39)	W154R	probably damaging	Het
Nlrp12	G	A	7: 3,289,613 (GRCm39)	H300Y	possibly damaging	Het
Nlrp3	A	T	11: 59,439,554 (GRCm39)	Y377F	probably damaging	Het
Notch2	T	C	3: 98,008,952 (GRCm39)		probably null	Het
Nudcd1	A	T	15: 44,240,039 (GRCm39)	C500*	probably null	Het
Or5b24	T	C	19: 12,912,180 (GRCm39)	V26A	probably benign	Het
Or5d37	A	G	2: 87,923,353 (GRCm39)	V309A	probably damaging	Het
Or8g18	A	G	9: 39,149,717 (GRCm39)	M1T	probably null	Het
Or8h9	A	T	2: 86,789,698 (GRCm39)	Y35N	probably damaging	Het
Pabpc6	T	A	17: 9,888,540 (GRCm39)	S4C	probably damaging	Het
Pan2	C	T	10: 128,151,464 (GRCm39)	R835*	probably null	Het
Parp9	G	A	16: 35,784,683 (GRCm39)	V346I	probably damaging	Het
Pcbp4	C	T	9: 106,337,917 (GRCm39)	T69M	probably damaging	Het
Pclo	T	A	5: 14,727,896 (GRCm39)		probably benign	Het
Phldb3	A	T	7: 24,324,110 (GRCm39)	I495F	possibly damaging	Het
Plce1	G	T	19: 38,640,277 (GRCm39)	V508F	probably benign	Het
Pmpca	A	T	2: 26,285,178 (GRCm39)	I468F	probably damaging	Het
Pmpcb	G	A	5: 21,961,441 (GRCm39)	R399H	probably damaging	Het
Ptprc	A	G	1: 138,022,037 (GRCm39)	S544P	probably damaging	Het
Rev3l	T	A	10: 39,699,326 (GRCm39)	D1274E	probably benign	Het
Ryr3	A	T	2: 112,733,010 (GRCm39)	V612E	probably damaging	Het
Scfd2	G	T	5: 74,366,982 (GRCm39)	H639Q	probably benign	Het
Sell	T	A	1: 163,892,887 (GRCm39)	H34Q	possibly damaging	Het
Setd2	A	G	9: 110,377,226 (GRCm39)	D347G	probably benign	Het
Sgip1	G	A	4: 102,726,966 (GRCm39)	D81N	probably damaging	Het
Slc12a1	A	T	2: 125,060,144 (GRCm39)	I940F	possibly damaging	Het
Slc25a34	T	A	4: 141,348,769 (GRCm39)	I232L	probably benign	Het
Slc36a3	T	A	11: 55,039,399 (GRCm39)	K76N	probably damaging	Het
Slc6a15	T	A	10: 103,225,087 (GRCm39)	D58E	probably benign	Het
Slc6a7	T	C	18: 61,140,448 (GRCm39)	S195G	probably null	Het
Svep1	G	A	4: 58,068,610 (GRCm39)	Q3059*	probably null	Het
Syce1l	A	C	8: 114,378,274 (GRCm39)	H56P	probably damaging	Het
Tbc1d2	A	G	4: 46,606,503 (GRCm39)	V814A	probably damaging	Het
Tbx18	T	A	9: 87,597,740 (GRCm39)	I265F	probably damaging	Het
Thbs2	T	C	17: 14,890,852 (GRCm39)		probably null	Het
Ttll1	T	C	15: 83,380,597 (GRCm39)	H256R	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttyh2	A	T	11: 114,587,583 (GRCm39)	T195S	probably benign	Het
Unc119b	A	G	5: 115,263,553 (GRCm39)	L217P	probably damaging	Het
Usp6nl	A	G	2: 6,425,714 (GRCm39)	K152E	probably benign	Het
Vcam1	T	C	3: 115,910,941 (GRCm39)	R486G	probably benign	Het
Vmn2r1	A	C	3: 63,997,544 (GRCm39)	Q400P	possibly damaging	Het
Vmn2r80	T	A	10: 79,030,292 (GRCm39)	V706D	possibly damaging	Het
Vmn2r87	A	T	10: 130,314,422 (GRCm39)	L388Q	probably damaging	Het
Vwa3a	A	T	7: 120,383,208 (GRCm39)	Y603F	probably damaging	Het
Zfp850	A	T	7: 27,689,658 (GRCm39)	C183*	probably null	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
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
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'- TCTCTACTACTGCCAGCTGG -3'
(R):5'- ACAGACGTAGGTTGTGGTAAC -3'

Sequencing Primer
(F):5'- TGCTATGTCTTCACCGAG -3'
(R):5'- AACTGTCTTTGAAGTGCAGGAC -3'

Posted On

2016-06-15