Mutagenetix > Incidental Mutation

Incidental Mutation 'R2174:Unc5d'

237699

Institutional Source

Beutler Lab

Gene Symbol

Unc5d

Ensembl Gene

ENSMUSG00000063626

Gene Name

unc-5 netrin receptor D

Synonyms

D930029E11Rik, Unc5h4

MMRRC Submission

040176-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.322) question?

Stock #

R2174 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29136745-29709664 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29184568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 644 (V644E)

Ref Sequence

ENSEMBL: ENSMUSP00000147306 (fasta)

Gene Model

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

AlphaFold

Q8K1S2

Predicted Effect

probably damaging
Transcript: ENSMUST00000168630
AA Change: V716E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128521
Gene: ENSMUSG00000063626
AA Change: V716E

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 damaging
Transcript: ENSMUST00000209401
AA Change: V642E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210298
AA Change: V655E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000210785
AA Change: V698E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211448
AA Change: V644E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.4131

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

99% (73/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C10Rik	T	C	7: 37,894,252 (GRCm39)	I95T	possibly damaging	Het
Adarb1	A	G	10: 77,131,632 (GRCm39)	I619T	probably benign	Het
Aldh2	T	C	5: 121,710,731 (GRCm39)		probably benign	Het
Antxrl	T	A	14: 33,782,357 (GRCm39)	L180Q	probably damaging	Het
Asnsd1	A	T	1: 53,386,760 (GRCm39)	I289N	probably benign	Het
Asxl3	T	G	18: 22,586,701 (GRCm39)	S164A	possibly damaging	Het
Cacnb2	C	T	2: 14,963,578 (GRCm39)	T108I	probably benign	Het
Capn2	A	T	1: 182,307,290 (GRCm39)	I516N	probably benign	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Cenpo	T	C	12: 4,267,318 (GRCm39)	K73R	probably benign	Het
Cfap20dc	T	C	14: 8,558,109 (GRCm38)	I159V	probably benign	Het
Clasp1	A	G	1: 118,487,825 (GRCm39)	H823R	probably damaging	Het
Col6a4	T	C	9: 105,937,331 (GRCm39)	D1395G	probably damaging	Het
Ddx60	A	G	8: 62,409,175 (GRCm39)	I404V	probably damaging	Het
Ddx60	G	T	8: 62,470,234 (GRCm39)	M1407I	probably benign	Het
Dennd3	A	T	15: 73,427,154 (GRCm39)	R844W	probably damaging	Het
Depdc1b	A	T	13: 108,498,787 (GRCm39)	K157*	probably null	Het
Dnai7	T	C	6: 145,120,896 (GRCm39)	H641R	probably damaging	Het
Dnajc1	T	C	2: 18,312,762 (GRCm39)	D196G	probably damaging	Het
Fanca	A	G	8: 123,998,009 (GRCm39)	W1226R	probably benign	Het
Fbxl13	A	G	5: 21,787,046 (GRCm39)	V297A	possibly damaging	Het
Fnta	A	T	8: 26,503,498 (GRCm39)	F96I	possibly damaging	Het
Fzd3	T	C	14: 65,449,680 (GRCm39)		probably benign	Het
Gckr	T	C	5: 31,484,353 (GRCm39)	V597A	possibly damaging	Het
Gm43302	T	C	5: 105,422,216 (GRCm39)	K496R	probably benign	Het
Gm5283	A	G	3: 17,285,005 (GRCm39)		noncoding transcript	Het
Gm6741	A	G	17: 91,544,332 (GRCm39)	I32V	probably benign	Het
Gnptab	T	A	10: 88,269,906 (GRCm39)	F870I	probably damaging	Het
Gpx8	G	A	13: 113,182,140 (GRCm39)	P98S	probably benign	Het
Grm2	T	C	9: 106,524,994 (GRCm39)	I574V	probably benign	Het
Gtf3c5	T	C	2: 28,457,787 (GRCm39)	D468G	probably benign	Het
Hectd3	A	T	4: 116,856,898 (GRCm39)	M482L	probably benign	Het
Ier5	G	T	1: 154,974,599 (GRCm39)	P193H	possibly damaging	Het
Inpp4a	A	G	1: 37,435,211 (GRCm39)	N827S	probably damaging	Het
Kif13a	A	G	13: 46,922,652 (GRCm39)	L387P	probably damaging	Het
Map3k1	G	C	13: 111,889,016 (GRCm39)	H1314D	possibly damaging	Het
Mbl2	G	A	19: 30,211,412 (GRCm39)	C11Y	possibly damaging	Het
Msr1	A	G	8: 40,084,381 (GRCm39)	L58P	probably damaging	Het
Mtmr10	T	A	7: 63,986,512 (GRCm39)	F530Y	possibly damaging	Het
Myo7b	A	G	18: 32,116,610 (GRCm39)	L999P	probably damaging	Het
Myoz3	T	C	18: 60,723,296 (GRCm39)	E8G	probably benign	Het
Naip6	C	A	13: 100,435,495 (GRCm39)	M1009I	probably benign	Het
Nav2	T	A	7: 49,102,411 (GRCm39)	M342K	probably damaging	Het
Ndufaf6	T	C	4: 11,070,228 (GRCm39)	H131R	probably benign	Het
Nlrp4a	T	C	7: 26,148,849 (GRCm39)	L152P	probably damaging	Het
Or9s23	A	G	1: 92,501,379 (GRCm39)	N162S	probably benign	Het
Pan3	T	C	5: 147,387,463 (GRCm39)	I144T	possibly damaging	Het
Prkdc	A	T	16: 15,552,786 (GRCm39)	Q2074L	probably benign	Het
Pthlh	G	A	6: 147,158,510 (GRCm39)	T150I	probably benign	Het
Ptprq	A	T	10: 107,541,414 (GRCm39)	Y371N	probably damaging	Het
Rfwd3	A	G	8: 112,009,975 (GRCm39)	S377P	probably damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Sap130	T	C	18: 31,810,532 (GRCm39)		probably null	Het
Sap25	T	G	5: 137,640,891 (GRCm39)	M229R	possibly damaging	Het
Scaper	A	T	9: 55,766,321 (GRCm39)	V479E	probably null	Het
Scn3a	T	A	2: 65,337,550 (GRCm39)	D649V	probably damaging	Het
Slco1a7	A	T	6: 141,673,319 (GRCm39)	Y406*	probably null	Het
Smc1b	A	G	15: 85,006,052 (GRCm39)		probably benign	Het
Sowahb	T	C	5: 93,192,284 (GRCm39)	E145G	possibly damaging	Het
Stxbp5	T	A	10: 9,711,590 (GRCm39)	I277F	possibly damaging	Het
Tanc1	T	C	2: 59,674,177 (GRCm39)	S1754P	possibly damaging	Het
Tanc2	A	G	11: 105,801,135 (GRCm39)	D1117G	probably benign	Het
Tbc1d31	A	G	15: 57,815,137 (GRCm39)	M605V	possibly damaging	Het
Tekt3	A	T	11: 62,985,514 (GRCm39)	D440V	possibly damaging	Het
Tmem67	C	T	4: 12,063,730 (GRCm39)	W477*	probably null	Het
Tra2a	T	C	6: 49,227,861 (GRCm39)		probably benign	Het
Trappc12	A	G	12: 28,797,380 (GRCm39)	F51L	possibly damaging	Het
Trrap	C	A	5: 144,758,665 (GRCm39)	P2183Q	probably benign	Het
Ubn2	T	A	6: 38,447,076 (GRCm39)		probably null	Het
Xpo4	A	G	14: 57,827,547 (GRCm39)	L883P	probably damaging	Het
Zbbx	T	G	3: 74,959,721 (GRCm39)	D616A	possibly damaging	Het
Zfp943	T	A	17: 22,211,804 (GRCm39)	C297S	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
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
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'- CCCCGTCTTGAGTGTCAATTG -3'
(R):5'- TGAGTCCACATCCTGTTACTGC -3'

Sequencing Primer
(F):5'- GAAATGTCCTCTGAAGGCCCATG -3'
(R):5'- ACATCCTGTTACTGCCTCTTGGATC -3'

Posted On

2014-10-02