Mutagenetix > Incidental Mutation

Incidental Mutation 'R9126:Unc5a'

693274

Institutional Source

Beutler Lab

Gene Symbol

Unc5a

Ensembl Gene

ENSMUSG00000025876

Gene Name

unc-5 netrin receptor A

Synonyms

Unc5h1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9126 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55097224-55153831 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55145774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 312 (L312P)

Ref Sequence

ENSEMBL: ENSMUSP00000026994 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026994] [ENSMUST00000109994] [ENSMUST00000136852]

AlphaFold

Q8K1S4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026994
AA Change: L312P

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026994
Gene: ENSMUSG00000025876
AA Change: L312P

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

possibly damaging
Transcript: ENSMUST00000109994
AA Change: L256P

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105621
Gene: ENSMUSG00000025876
AA Change: L256P

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

possibly damaging
Transcript: ENSMUST00000136852
AA Change: L31P

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116585
Gene: ENSMUSG00000025876
AA Change: L31P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	G	T	3: 98,068,307 (GRCm39)	V47L	probably benign	Het
Atm	T	C	9: 53,370,134 (GRCm39)	K2323R	probably benign	Het
Bbx	A	G	16: 50,020,813 (GRCm39)	L865P	probably damaging	Het
C2cd3	T	A	7: 100,081,430 (GRCm39)	I1024N		Het
Cacna1e	A	T	1: 154,343,510 (GRCm39)	C1161S	probably benign	Het
Caskin2	A	T	11: 115,702,730 (GRCm39)	V26E	possibly damaging	Het
Ccnb3	T	G	X: 6,874,413 (GRCm39)	D722A	probably damaging	Het
Cep135	C	A	5: 76,781,550 (GRCm39)	Q846K	probably benign	Het
Cfap44	A	T	16: 44,295,619 (GRCm39)	D1639V	possibly damaging	Het
Cfh	G	T	1: 140,014,111 (GRCm39)	R1238S	probably damaging	Het
Dctn1	A	T	6: 83,169,835 (GRCm39)	D712V	probably damaging	Het
Ddx21	T	C	10: 62,424,479 (GRCm39)	D574G	probably damaging	Het
Dele1	A	G	18: 38,384,210 (GRCm39)	T35A	probably benign	Het
Dipk1b	A	G	2: 26,525,989 (GRCm39)	T308A	probably benign	Het
Dlgap5	A	G	14: 47,638,989 (GRCm39)	I443T	probably damaging	Het
Dusp7	G	A	9: 106,250,966 (GRCm39)	V364I		Het
Entpd1	G	T	19: 40,714,608 (GRCm39)	R268L	possibly damaging	Het
Fermt3	C	T	19: 6,979,745 (GRCm39)	A463T	probably benign	Het
Frat2	T	C	19: 41,836,106 (GRCm39)	D82G	probably damaging	Het
Git1	T	A	11: 77,390,380 (GRCm39)	I75N	probably damaging	Het
Gpr171	T	A	3: 59,005,488 (GRCm39)	I96F	probably damaging	Het
Gzmb	G	T	14: 56,497,845 (GRCm39)	R132S	probably benign	Het
Hecw1	C	T	13: 14,546,608 (GRCm39)	R132H	probably damaging	Het
Hey1	T	G	3: 8,729,651 (GRCm39)	S269R	probably benign	Het
Hgf	T	A	5: 16,765,979 (GRCm39)	N38K	possibly damaging	Het
Lag3	T	C	6: 124,881,809 (GRCm39)	R467G	probably damaging	Het
Lama3	A	T	18: 12,583,527 (GRCm39)	H705L	probably damaging	Het
Lce3f	T	G	3: 92,900,327 (GRCm39)	S49R	unknown	Het
Lrrc49	T	C	9: 60,578,594 (GRCm39)	D250G	probably damaging	Het
Lzts3	T	C	2: 130,477,248 (GRCm39)	K400R	possibly damaging	Het
Macc1	T	C	12: 119,409,711 (GRCm39)	S160P	probably benign	Het
Macf1	T	C	4: 123,276,193 (GRCm39)	T6155A	possibly damaging	Het
Mboat4	C	T	8: 34,582,348 (GRCm39)	T34I	probably benign	Het
Nav3	T	A	10: 109,541,524 (GRCm39)	Q1913L	probably benign	Het
Notch4	T	C	17: 34,800,080 (GRCm39)	S1014P	probably benign	Het
Or1o4	T	C	17: 37,590,745 (GRCm39)	T189A	probably benign	Het
Or2h1b	T	C	17: 37,462,123 (GRCm39)	T247A	possibly damaging	Het
Or52z1	T	G	7: 103,437,002 (GRCm39)	I161L	probably benign	Het
Orc2	A	C	1: 58,515,628 (GRCm39)	H293Q	probably benign	Het
Otoa	A	G	7: 120,693,845 (GRCm39)	Y75C	probably damaging	Het
Pate2	T	A	9: 35,581,908 (GRCm39)		probably null	Het
Phldb3	G	A	7: 24,326,726 (GRCm39)	V585I	probably damaging	Het
Plk3	ACACTCAC	ACAC	4: 116,989,090 (GRCm39)		probably benign	Het
Pou2f1	A	T	1: 165,722,603 (GRCm39)	N443K	unknown	Het
Prkci	T	A	3: 31,072,793 (GRCm39)	F66I	probably damaging	Het
Ptprz1	C	T	6: 23,002,334 (GRCm39)	Q1475*	probably null	Het
Qars1	C	T	9: 108,386,399 (GRCm39)	R143C	probably damaging	Het
Reln	T	C	5: 22,160,194 (GRCm39)	D2125G	probably damaging	Het
Rp1	A	T	1: 4,417,136 (GRCm39)	D1325E	probably damaging	Het
Rpl36a-ps1	A	T	14: 99,231,694 (GRCm39)	C15S	probably damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Scn9a	A	G	2: 66,314,744 (GRCm39)	I1658T	probably damaging	Het
Serinc1	C	T	10: 57,395,577 (GRCm39)	G370S	probably benign	Het
Spef1	G	T	2: 131,013,829 (GRCm39)	T197K	probably damaging	Het
Spmap2l	A	G	5: 77,164,453 (GRCm39)	Y152C	probably damaging	Het
Sptan1	G	A	2: 29,920,597 (GRCm39)	V2363I	probably damaging	Het
Ssh2	T	A	11: 77,346,102 (GRCm39)	C1362*	probably null	Het
Star	T	C	8: 26,302,832 (GRCm39)	V258A	probably benign	Het
Sympk	T	C	7: 18,778,873 (GRCm39)	I588T	possibly damaging	Het
Tas2r136	T	C	6: 132,754,584 (GRCm39)	N181S	probably damaging	Het
Tbc1d4	A	T	14: 101,724,952 (GRCm39)	V555E	probably benign	Het
Topaz1	G	A	9: 122,625,228 (GRCm39)	V1438I	probably benign	Het
Trmt112	T	A	19: 6,887,786 (GRCm39)	M45K		Het
Tshr	G	A	12: 91,503,992 (GRCm39)	R310H	probably damaging	Het
Ulk4	G	T	9: 121,090,988 (GRCm39)	P238Q	probably damaging	Het
Urb1	T	C	16: 90,566,290 (GRCm39)	D1499G	possibly damaging	Het
Ushbp1	A	G	8: 71,843,653 (GRCm39)	S262P	probably damaging	Het
Vmn1r173	G	A	7: 23,402,008 (GRCm39)	R81K	probably benign	Het
Vmn2r5	G	A	3: 64,399,159 (GRCm39)	P607S	probably benign	Het
Vtn	G	T	11: 78,391,256 (GRCm39)	G223V	probably damaging	Het
Zfhx4	T	C	3: 5,394,589 (GRCm39)	V1061A	probably damaging	Het
Zfp169	T	C	13: 48,644,557 (GRCm39)	E190G	unknown	Het
Zfp616	T	A	11: 73,976,280 (GRCm39)	C850S	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
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
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
R9492:Unc5a	UTSW	13	55,150,288 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGCTGGACACTCAAGGTCC -3'
(R):5'- CAAGCTTTGGAGAGACACAGGC -3'

Sequencing Primer
(F):5'- TCAAGGTCCGACCGATCAGAG -3'
(R):5'- AGAGTGGCTGCCCTGAC -3'

Posted On

2022-01-20