Mutagenetix > Incidental Mutation

Incidental Mutation 'R0071:Unc5d'

43855

Institutional Source

Beutler Lab

Gene Symbol

Unc5d

Ensembl Gene

ENSMUSG00000063626

Gene Name

unc-5 netrin receptor D

Synonyms

D930029E11Rik, Unc5h4

MMRRC Submission

038362-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.316) question?

Stock #

R0071 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29136745-29709664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29209854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 422 (V422A)

Ref Sequence

ENSEMBL: ENSMUSP00000147306 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168630] [ENSMUST00000209401] [ENSMUST00000210298] [ENSMUST00000210785] [ENSMUST00000211448]

AlphaFold

Q8K1S2

Predicted Effect

probably benign
Transcript: ENSMUST00000168630
AA Change: V494A

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128521
Gene: ENSMUSG00000063626
AA Change: V494A

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
SCOP:d1cs6a2	52	146	5e-3	SMART
IGc2	169	236	2.66e-8	SMART
TSP1	253	304	2.29e-13	SMART
TSP1	309	358	6.33e-7	SMART
transmembrane domain	383	405	N/A	INTRINSIC
Pfam:ZU5	545	642	1.6e-33	PFAM
DEATH	850	941	4.77e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000209401
AA Change: V420A

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000210298
AA Change: V433A

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210785
AA Change: V476A

PolyPhen 2 Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211448
AA Change: V422A

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)

Meta Mutation Damage Score

0.1233

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.2%

Validation Efficiency

99% (78/79)

MGI Phenotype

PHENOTYPE: Mice exhibit impaired induced growth cone collapse response and accelerated radial migration of cortical neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	A	G	14: 35,812,746 (GRCm39)		probably benign	Het
Acot12	T	C	13: 91,929,293 (GRCm39)		probably benign	Het
Acrbp	T	C	6: 125,027,915 (GRCm39)		probably benign	Het
Amotl1	G	A	9: 14,460,069 (GRCm39)	A890V	probably benign	Het
Aox3	T	A	1: 58,211,050 (GRCm39)	C931*	probably null	Het
Apob	T	A	12: 8,052,111 (GRCm39)	V1184E	probably damaging	Het
Arhgap44	A	T	11: 64,902,721 (GRCm39)	L582Q	possibly damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
Bccip	A	G	7: 133,315,960 (GRCm39)	D72G	probably damaging	Het
Bckdha	A	T	7: 25,329,868 (GRCm39)		probably null	Het
Bmerb1	A	G	16: 13,906,818 (GRCm39)	D11G	probably damaging	Het
Cald1	C	T	6: 34,735,069 (GRCm39)		probably benign	Het
Cby2	A	G	14: 75,821,621 (GRCm39)	S44P	probably benign	Het
Cdk11b	T	C	4: 155,733,880 (GRCm39)		probably benign	Het
Cebpe	G	T	14: 54,948,061 (GRCm39)	R261S	probably damaging	Het
Cep95	C	T	11: 106,681,554 (GRCm39)		probably benign	Het
Chi3l1	T	C	1: 134,113,017 (GRCm39)	Y150H	probably benign	Het
Chrnd	T	C	1: 87,120,559 (GRCm39)		probably benign	Het
Clec4g	T	A	8: 3,767,489 (GRCm39)		probably benign	Het
Cog2	T	C	8: 125,275,407 (GRCm39)		probably benign	Het
Coro7	A	T	16: 4,488,391 (GRCm39)	L93Q	probably damaging	Het
Csmd3	T	C	15: 47,460,217 (GRCm39)	T3525A	probably benign	Het
Ctsc	G	A	7: 87,957,357 (GRCm39)		probably benign	Het
Dnajc16	T	C	4: 141,495,318 (GRCm39)	T467A	probably benign	Het
Dnmt1	G	A	9: 20,819,916 (GRCm39)	T1409I	probably damaging	Het
Fam227b	T	A	2: 125,965,994 (GRCm39)	N144Y	probably benign	Het
Fam83h	A	G	15: 75,874,377 (GRCm39)	S987P	probably benign	Het
Fhod1	A	T	8: 106,063,857 (GRCm39)		probably null	Het
Folr1	A	G	7: 101,513,130 (GRCm39)		probably null	Het
Glis3	C	T	19: 28,241,255 (GRCm39)		probably benign	Het
Gm10069	T	C	6: 128,449,688 (GRCm39)		noncoding transcript	Het
Golgb1	G	A	16: 36,735,865 (GRCm39)	R1704Q	probably benign	Het
Gpr158	C	A	2: 21,815,479 (GRCm39)	T624K	probably benign	Het
Helz2	T	C	2: 180,878,200 (GRCm39)	Y866C	probably damaging	Het
Itpkb	T	A	1: 180,160,330 (GRCm39)	V152E	probably damaging	Het
Kcnma1	C	T	14: 23,576,835 (GRCm39)	R236H	probably damaging	Het
Klhl32	A	G	4: 24,743,907 (GRCm39)	V88A	probably damaging	Het
Lct	C	T	1: 128,219,755 (GRCm39)	W1631*	probably null	Het
Lipa	T	A	19: 34,472,482 (GRCm39)	K313M	probably damaging	Het
Ly75	T	C	2: 60,152,163 (GRCm39)	K1130R	probably benign	Het
Mamdc2	C	A	19: 23,280,994 (GRCm39)	E685*	probably null	Het
Mdm1	A	G	10: 117,982,701 (GRCm39)	E112G	probably damaging	Het
Metrnl	A	T	11: 121,606,826 (GRCm39)	M212L	probably benign	Het
Mettl2	A	G	11: 105,022,468 (GRCm39)		probably benign	Het
Mxd3	A	T	13: 55,477,449 (GRCm39)	L11Q	probably damaging	Het
Myo7a	A	T	7: 97,706,037 (GRCm39)	Y1836N	probably damaging	Het
Nsun7	A	G	5: 66,421,388 (GRCm39)	Y118C	probably benign	Het
Obscn	G	A	11: 58,955,027 (GRCm39)	T3962M	possibly damaging	Het
Or13a20	A	T	7: 140,232,170 (GRCm39)	I93F	probably benign	Het
Or2d36	A	G	7: 106,746,919 (GRCm39)	Y132C	probably damaging	Het
Or5k3	C	A	16: 58,969,578 (GRCm39)	R122S	probably benign	Het
Osbpl11	T	C	16: 33,034,708 (GRCm39)		probably benign	Het
Pcdhb22	A	T	18: 37,653,131 (GRCm39)	D276V	probably damaging	Het
Pik3cb	A	T	9: 98,926,918 (GRCm39)	D886E	probably benign	Het
Pkhd1	T	A	1: 20,271,568 (GRCm39)	Y2995F	probably benign	Het
Raver2	C	T	4: 100,977,642 (GRCm39)		probably benign	Het
Rhbdf1	A	G	11: 32,160,498 (GRCm39)	L684P	probably damaging	Het
Rufy2	C	A	10: 62,824,946 (GRCm39)	L75M	possibly damaging	Het
Sec22c	A	G	9: 121,521,979 (GRCm39)	F44L	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Serpina1a	T	C	12: 103,822,002 (GRCm39)	K310R	probably benign	Het
Shoc1	A	G	4: 59,059,643 (GRCm39)	Y1006H	possibly damaging	Het
Sobp	A	G	10: 43,033,993 (GRCm39)	L111P	probably damaging	Het
Sparcl1	G	T	5: 104,233,707 (GRCm39)	Y547*	probably null	Het
Spata31d1b	G	A	13: 59,863,163 (GRCm39)	A104T	probably benign	Het
Spsb3	A	G	17: 25,106,878 (GRCm39)	D184G	probably damaging	Het
Sptan1	A	T	2: 29,893,354 (GRCm39)	K1148*	probably null	Het
Tdrd12	A	G	7: 35,228,671 (GRCm39)	V17A	possibly damaging	Het
Tlr9	A	G	9: 106,100,777 (GRCm39)	T23A	probably benign	Het
Tra2b	A	T	16: 22,073,151 (GRCm39)		probably benign	Het
Tspan15	A	G	10: 62,038,849 (GRCm39)		probably benign	Het
Ttc41	A	G	10: 86,572,710 (GRCm39)	N694S	probably benign	Het
Ttn	T	G	2: 76,597,813 (GRCm39)	D19700A	probably damaging	Het
Ube3b	G	A	5: 114,557,558 (GRCm39)	G1014D	probably damaging	Het
Vmn2r80	C	T	10: 79,007,566 (GRCm39)	T514I	possibly damaging	Het
Zfp595	T	C	13: 67,464,917 (GRCm39)	K452E	possibly damaging	Het
Zfp607a	A	G	7: 27,577,694 (GRCm39)	K255E	probably damaging	Het
Zxdc	T	G	6: 90,347,398 (GRCm39)	V253G	probably damaging	Het

Other mutations in Unc5d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Unc5d	APN	8	29,209,854 (GRCm39)	missense	probably damaging	0.97
IGL00687:Unc5d	APN	8	29,205,841 (GRCm39)	splice site	probably benign
IGL00970:Unc5d	APN	8	29,186,456 (GRCm39)	missense	probably benign	0.15
IGL01992:Unc5d	APN	8	29,142,819 (GRCm39)	missense	probably damaging	0.98
IGL02024:Unc5d	APN	8	29,142,855 (GRCm39)	missense	probably benign	0.08
IGL02080:Unc5d	APN	8	29,381,316 (GRCm39)	splice site	probably null
IGL02902:Unc5d	APN	8	29,365,634 (GRCm39)	missense	probably damaging	1.00
IGL02982:Unc5d	APN	8	29,142,881 (GRCm39)	missense	probably damaging	1.00
R0071:Unc5d	UTSW	8	29,209,854 (GRCm39)	missense	possibly damaging	0.62
R0761:Unc5d	UTSW	8	29,186,560 (GRCm39)	splice site	probably null
R0941:Unc5d	UTSW	8	29,249,055 (GRCm39)	missense	possibly damaging	0.85
R1086:Unc5d	UTSW	8	29,365,658 (GRCm39)	missense	possibly damaging	0.87
R1625:Unc5d	UTSW	8	29,173,234 (GRCm39)	missense	probably damaging	1.00
R1635:Unc5d	UTSW	8	29,250,777 (GRCm39)	missense	probably benign	0.14
R1682:Unc5d	UTSW	8	29,249,109 (GRCm39)	missense	probably damaging	1.00
R1698:Unc5d	UTSW	8	29,186,506 (GRCm39)	missense	probably damaging	0.99
R2015:Unc5d	UTSW	8	29,249,007 (GRCm39)	missense	probably damaging	1.00
R2132:Unc5d	UTSW	8	29,365,557 (GRCm39)	missense	possibly damaging	0.50
R2174:Unc5d	UTSW	8	29,184,568 (GRCm39)	missense	probably damaging	0.99
R2210:Unc5d	UTSW	8	29,251,825 (GRCm39)	missense	probably damaging	0.97
R3684:Unc5d	UTSW	8	29,184,620 (GRCm39)	missense	probably damaging	1.00
R3734:Unc5d	UTSW	8	29,251,826 (GRCm39)	missense	probably benign	0.02
R4093:Unc5d	UTSW	8	29,334,865 (GRCm39)	missense	possibly damaging	0.87
R4287:Unc5d	UTSW	8	29,209,824 (GRCm39)	missense	probably benign	0.00
R4888:Unc5d	UTSW	8	29,156,927 (GRCm39)	missense	probably benign	0.02
R5000:Unc5d	UTSW	8	29,205,775 (GRCm39)	missense	possibly damaging	0.90
R5060:Unc5d	UTSW	8	29,209,723 (GRCm39)	missense	probably benign	0.00
R5076:Unc5d	UTSW	8	29,184,704 (GRCm39)	missense	possibly damaging	0.88
R5696:Unc5d	UTSW	8	29,156,870 (GRCm39)	missense	probably benign	0.06
R6024:Unc5d	UTSW	8	29,365,539 (GRCm39)	missense	possibly damaging	0.96
R6077:Unc5d	UTSW	8	29,165,335 (GRCm39)	missense	possibly damaging	0.94
R6259:Unc5d	UTSW	8	29,156,820 (GRCm39)	missense	probably benign	0.00
R6387:Unc5d	UTSW	8	29,365,554 (GRCm39)	nonsense	probably null
R7038:Unc5d	UTSW	8	29,205,749 (GRCm39)	critical splice donor site	probably null
R7577:Unc5d	UTSW	8	29,381,449 (GRCm39)	missense	probably damaging	1.00
R7641:Unc5d	UTSW	8	29,210,003 (GRCm39)	missense	probably damaging	1.00
R8175:Unc5d	UTSW	8	29,334,855 (GRCm39)	missense	probably damaging	1.00
R8426:Unc5d	UTSW	8	29,210,016 (GRCm39)	missense	probably damaging	1.00
R8465:Unc5d	UTSW	8	29,156,877 (GRCm39)	missense	probably damaging	1.00
R8748:Unc5d	UTSW	8	29,186,453 (GRCm39)	missense	probably benign	0.15
R9228:Unc5d	UTSW	8	29,165,448 (GRCm39)	missense	probably damaging	1.00
R9234:Unc5d	UTSW	8	29,250,877 (GRCm39)	missense	probably damaging	0.98
R9257:Unc5d	UTSW	8	29,215,174 (GRCm39)	critical splice donor site	probably null
R9338:Unc5d	UTSW	8	29,709,471 (GRCm39)	unclassified	probably benign
R9524:Unc5d	UTSW	8	29,365,639 (GRCm39)	missense	probably damaging	1.00
R9732:Unc5d	UTSW	8	29,381,319 (GRCm39)	critical splice donor site	probably null
R9738:Unc5d	UTSW	8	29,214,332 (GRCm39)	missense	probably benign	0.07
R9742:Unc5d	UTSW	8	29,156,792 (GRCm39)	critical splice donor site	probably null
R9743:Unc5d	UTSW	8	29,209,801 (GRCm39)	missense	possibly damaging	0.84
X0058:Unc5d	UTSW	8	29,250,758 (GRCm39)	missense	probably benign	0.12
X0060:Unc5d	UTSW	8	29,184,704 (GRCm39)	missense	possibly damaging	0.88
Z1176:Unc5d	UTSW	8	29,249,081 (GRCm39)	missense	probably damaging	1.00
Z1177:Unc5d	UTSW	8	29,381,336 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGCCTTCGCTGATCACTTCCAAATG -3'
(R):5'- TACTGAATCCTGCCATGCAGCC -3'

Sequencing Primer
(F):5'- CACCTGTATTTGGCATTACTAAGCG -3'
(R):5'- AGCTCATGACAGAGTCCTCACT -3'

Posted On

2013-05-29