Mutagenetix > Incidental Mutation

Incidental Mutation 'R5413:Igdcc3'

427597

Institutional Source

Beutler Lab

Gene Symbol

Igdcc3

Ensembl Gene

ENSMUSG00000032394

Gene Name

immunoglobulin superfamily, DCC subclass, member 3

Synonyms

Punc, WI-14920, 2810401C09Rik

MMRRC Submission

042982-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R5413 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65048471-65093154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65084797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 189 (V189A)

Ref Sequence

ENSEMBL: ENSMUSP00000149084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034961] [ENSMUST00000217371]

AlphaFold

Q8BQC3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034961
AA Change: V189A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034961
Gene: ENSMUSG00000032394
AA Change: V189A

Domain	Start	End	E-Value	Type
signal peptide	1	47	N/A	INTRINSIC
IGc2	66	136	1.28e-10	SMART
IGc2	163	228	4.77e-10	SMART
IGc2	262	326	8.06e-8	SMART
IGc2	354	419	3.17e-15	SMART
FN3	436	519	1.2e-13	SMART
FN3	534	615	2.66e-6	SMART
transmembrane domain	631	653	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217135

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217371
AA Change: V189A

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a gene trap mutation exhibit reduced performance on the rotarod, suggesting impaired cerebellar function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	T	A	11: 48,911,204 (GRCm39)	T410S	possibly damaging	Het
Adamts3	A	G	5: 89,856,626 (GRCm39)	S316P	probably damaging	Het
Angptl3	A	T	4: 98,919,259 (GRCm39)	L6F	probably benign	Het
Clint1	T	C	11: 45,777,307 (GRCm39)	V98A	probably damaging	Het
Clk2	A	G	3: 89,080,785 (GRCm39)	N258S	probably benign	Het
Col18a1	T	C	10: 76,905,310 (GRCm39)	D723G	probably damaging	Het
Csmd3	A	T	15: 47,701,831 (GRCm39)	W1751R	probably damaging	Het
Daam1	C	A	12: 71,993,066 (GRCm39)	L352M	unknown	Het
Dennd2a	A	T	6: 39,441,227 (GRCm39)	F964I	probably damaging	Het
Dock5	A	G	14: 68,002,104 (GRCm39)	L1622P	probably damaging	Het
Dpy19l4	A	G	4: 11,289,700 (GRCm39)	L195P	probably damaging	Het
Esp24	A	C	17: 39,350,893 (GRCm39)	E31A	possibly damaging	Het
Fars2	T	A	13: 36,388,545 (GRCm39)	Y11*	probably null	Het
Fbxl16	C	A	17: 26,035,817 (GRCm39)	T138K	possibly damaging	Het
Frmpd1	A	G	4: 45,249,196 (GRCm39)	I129V	probably benign	Het
Gria1	A	G	11: 57,108,620 (GRCm39)	N241S	probably benign	Het
Homer1	A	G	13: 93,528,287 (GRCm39)	E274G	probably benign	Het
Igkv12-98	A	G	6: 68,548,078 (GRCm39)	Y68C	possibly damaging	Het
Igkv3-3	G	C	6: 70,664,414 (GRCm39)	R85S	probably damaging	Het
Ldha	A	G	7: 46,500,320 (GRCm39)	T144A	possibly damaging	Het
Lrp1	A	G	10: 127,423,936 (GRCm39)		probably null	Het
Myh9	A	T	15: 77,692,186 (GRCm39)	Y124*	probably null	Het
Or14c44	A	G	7: 86,061,675 (GRCm39)	Y35C	probably benign	Het
Or2n1d	G	T	17: 38,646,515 (GRCm39)	A156S	probably benign	Het
Or2y1b	A	T	11: 49,209,240 (GRCm39)	Y289F	probably damaging	Het
Or6b13	A	T	7: 139,782,635 (GRCm39)	V16E	possibly damaging	Het
Osbp	T	C	19: 11,961,855 (GRCm39)	Y551H	probably damaging	Het
Paf1	T	C	7: 28,096,040 (GRCm39)	M249T	possibly damaging	Het
Pcsk2	T	C	2: 143,538,620 (GRCm39)		probably null	Het
Piwil1	G	A	5: 128,820,944 (GRCm39)	V290I	possibly damaging	Het
Prmt9	A	T	8: 78,298,638 (GRCm39)	D444V	possibly damaging	Het
Rapgef2	T	C	3: 78,995,173 (GRCm39)	D677G	probably damaging	Het
Tmem59	A	G	4: 107,057,659 (GRCm39)	E237G	probably benign	Het
Trpm5	A	T	7: 142,634,705 (GRCm39)	I664N	probably damaging	Het
Unc13b	G	A	4: 43,257,936 (GRCm39)		probably null	Het
Usp17lc	C	A	7: 103,067,763 (GRCm39)	Q353K	probably benign	Het
Uvssa	G	A	5: 33,568,252 (GRCm39)	V547M	probably damaging	Het
Vdac1	G	T	11: 52,265,794 (GRCm39)	L52F	probably null	Het
Vmn2r14	T	A	5: 109,369,154 (GRCm39)	I140L	probably benign	Het
Wnt3a	A	G	11: 59,166,182 (GRCm39)	S33P	probably benign	Het
Wwp2	T	A	8: 108,281,710 (GRCm39)	Y300N	probably damaging	Het
Zwilch	T	A	9: 64,075,892 (GRCm39)		probably null	Het

Other mutations in Igdcc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Igdcc3	APN	9	65,089,301 (GRCm39)	missense	probably damaging	1.00
IGL01310:Igdcc3	APN	9	65,085,724 (GRCm39)	missense	probably damaging	0.98
IGL01545:Igdcc3	APN	9	65,087,355 (GRCm39)	missense	probably damaging	1.00
IGL01576:Igdcc3	APN	9	65,085,152 (GRCm39)	missense	probably damaging	1.00
IGL01909:Igdcc3	APN	9	65,051,819 (GRCm39)	missense	probably damaging	1.00
IGL02039:Igdcc3	APN	9	65,091,162 (GRCm39)	missense	probably benign	0.18
IGL02055:Igdcc3	APN	9	65,088,562 (GRCm39)	missense	possibly damaging	0.92
IGL02565:Igdcc3	APN	9	65,087,470 (GRCm39)	missense	probably damaging	1.00
R1776:Igdcc3	UTSW	9	65,090,034 (GRCm39)	nonsense	probably null
R4731:Igdcc3	UTSW	9	65,089,279 (GRCm39)	missense	probably damaging	1.00
R5487:Igdcc3	UTSW	9	65,088,866 (GRCm39)	missense	probably damaging	1.00
R5744:Igdcc3	UTSW	9	65,048,770 (GRCm39)	small deletion	probably benign
R6578:Igdcc3	UTSW	9	65,089,301 (GRCm39)	missense	probably damaging	1.00
R6867:Igdcc3	UTSW	9	65,090,320 (GRCm39)	missense	probably damaging	1.00
R6992:Igdcc3	UTSW	9	65,088,853 (GRCm39)	missense	probably damaging	1.00
R8880:Igdcc3	UTSW	9	65,088,550 (GRCm39)	missense	probably benign	0.20
R9619:Igdcc3	UTSW	9	65,092,552 (GRCm39)	missense	probably benign	0.40
R9682:Igdcc3	UTSW	9	65,091,332 (GRCm39)	missense	probably benign	0.03
R9718:Igdcc3	UTSW	9	65,090,280 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACTGTCCTGCCTCAAGAAGAC -3'
(R):5'- ACTCTTACACAATCTCATGAGCCTAG -3'

Sequencing Primer
(F):5'- GAAGACACTGCTCCTCAGAGG -3'
(R):5'- CAATCTCATGAGCCTAGAATCTGGG -3'

Posted On

2016-09-01