Mutagenetix > Incidental Mutations

Incidental Mutation 'R4990:Dscam'

386164

Institutional Source

Beutler Lab

Gene Symbol

Dscam

Ensembl Gene

ENSMUSG00000050272

Gene Name

DS cell adhesion molecule

Synonyms

4932410A21Rik

MMRRC Submission

042584-MU

Accession Numbers

Genbank: NM_031174; MGI: 1196281

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4990 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96592079-97170752 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96825515 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 398 (V398A)

Ref Sequence

ENSEMBL: ENSMUSP00000056040 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056102]

Predicted Effect

probably benign
Transcript: ENSMUST00000056102
AA Change: V398A

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272
AA Change: V398A

Domain	Start	End	E-Value	Type
IG_like	37	109	1.47e0	SMART
IG	130	218	8.33e-1	SMART
IGc2	237	300	8.7e-13	SMART
IGc2	326	392	1.24e-8	SMART
IGc2	419	491	1.1e-9	SMART
IGc2	516	582	1.99e-7	SMART
IGc2	608	676	1.84e-11	SMART
IGc2	702	773	6.01e-16	SMART
IG	794	883	1.73e-7	SMART
FN3	885	969	7.34e-9	SMART
FN3	985	1073	4.06e-11	SMART
FN3	1088	1174	7.23e-8	SMART
FN3	1189	1270	2.6e-9	SMART
IGc2	1301	1366	2.05e-9	SMART
FN3	1380	1460	7.17e-12	SMART
FN3	1477	1557	4.35e1	SMART
transmembrane domain	1595	1617	N/A	INTRINSIC
low complexity region	1799	1809	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

MGI Phenotype

Strain: 4830358; 3840666;5305025;3761008
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit background-sensitive perinatal lethality associated with respiratory distress, altered C4 ventral root and pre-inspiratory neuron signaling, and abnormal response to hypercapnia. [provided by MGI curators]

Allele List at MGI

All alleles(9) : Targeted(6) Gene trapped(1) Spontaneous(2)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,294,939	I1135V	possibly damaging	Het
Abca14	G	A	7: 120,312,165	R1324K	probably benign	Het
Amer3	A	C	1: 34,588,741	D687A	probably benign	Het
Aplnr	G	A	2: 85,137,377	V249M	probably damaging	Het
Atg16l1	A	G	1: 87,789,369	K471R	probably benign	Het
Cacna1b	A	G	2: 24,678,874		probably null	Het
Ccdc152	A	G	15: 3,301,157	I12T	probably benign	Het
Cds1	A	G	5: 101,798,379	Y148C	probably damaging	Het
Cenpe	T	A	3: 135,256,640	L1989Q	probably damaging	Het
Cep295	T	C	9: 15,332,138	Q1674R	probably damaging	Het
D930020B18Rik	C	G	10: 121,654,761	P89A	probably damaging	Het
D930020B18Rik	C	T	10: 121,654,762	P89L	probably damaging	Het
Dock2	T	C	11: 34,695,251	M535V	probably damaging	Het
Elmo1	T	C	13: 20,342,519	F413S	probably damaging	Het
Emb	T	A	13: 117,264,510	N198K	probably damaging	Het
Eno3	A	G	11: 70,658,647	D98G	probably damaging	Het
Fbp1	C	T	13: 62,865,074	V102I	probably benign	Het
Fbxw18	T	C	9: 109,688,393	E414G	probably damaging	Het
Gm16432	A	C	1: 178,098,421	I218L	probably benign	Het
Gm5861	A	T	5: 11,186,414	E138V	probably damaging	Het
Grem2	A	G	1: 174,836,813	C157R	probably damaging	Het
Hnrnpr	A	G	4: 136,329,379	E230G	probably damaging	Het
Hnrnpr	G	A	4: 136,336,298	V239I	probably damaging	Het
Ipo11	A	T	13: 106,860,887	I688K	probably benign	Het
Irx4	G	T	13: 73,265,507	R32L	probably benign	Het
Kcnh7	T	C	2: 62,734,288	N876D	probably benign	Het
Klk1b26	T	A	7: 44,016,249		probably null	Het
Lrp2	G	T	2: 69,481,388	T2582K	probably benign	Het
Lrriq1	A	G	10: 103,200,559	I911T	probably damaging	Het
Megf6	A	G	4: 154,267,226	E1132G	possibly damaging	Het
Mesp1	A	G	7: 79,792,921	Y203H	probably damaging	Het
Ms4a4a	T	C	19: 11,378,837	S29P	probably benign	Het
Nbeal2	A	C	9: 110,634,803	C1174G	probably benign	Het
Neb	C	T	2: 52,255,546	V2989I	probably benign	Het
Nkx2-1	T	C	12: 56,534,939	Y41C	possibly damaging	Het
Nrxn3	T	A	12: 89,260,474	I293N	probably damaging	Het
Nt5e	A	G	9: 88,355,593	N192S	probably benign	Het
Ntng1	A	T	3: 110,135,261		probably null	Het
Olfr1215	A	T	2: 89,001,472	I272K	probably damaging	Het
Olfr1229	A	T	2: 89,283,327		probably null	Het
Olfr411	A	G	11: 74,347,197	I129T	probably damaging	Het
Olfr45	G	A	7: 140,691,447	E181K	probably damaging	Het
Panx1	A	G	9: 15,010,217	Y121H	probably damaging	Het
Pcsk4	A	G	10: 80,325,381	I233T	possibly damaging	Het
Pgm3	T	A	9: 86,558,412	I409F	probably damaging	Het
Plg	T	C	17: 12,411,510	Y645H	probably benign	Het
Pon3	T	C	6: 5,221,619	H337R	probably benign	Het
Rasa2	A	G	9: 96,591,989	I162T	probably benign	Het
Ror1	A	G	4: 100,441,964	I845V	probably benign	Het
Rpl4	T	C	9: 64,174,885	V22A	probably benign	Het
Ryr3	G	T	2: 112,635,777	Q4746K	probably damaging	Het
Ryr3	T	C	2: 112,909,973	N531S	probably damaging	Het
Sbno1	A	T	5: 124,400,165	F571I	probably damaging	Het
Scarf1	T	C	11: 75,526,015	V761A	probably benign	Het
Sec22b	T	G	3: 97,921,111		probably null	Het
Slc45a2	A	G	15: 11,001,150	M112V	probably benign	Het
Snai3	G	A	8: 122,456,332	T158M	possibly damaging	Het
Spata31d1a	T	C	13: 59,703,151	N388D	probably benign	Het
Sv2b	T	C	7: 75,117,722	N642S	possibly damaging	Het
Svil	T	A	18: 5,056,810	I561K	probably benign	Het
Trappc11	A	T	8: 47,490,895	D1127E	probably benign	Het
Triobp	C	A	15: 78,967,005	A453D	probably benign	Het
Tubd1	T	C	11: 86,557,839	L295P	probably damaging	Het
Ulk4	C	T	9: 121,192,786	V620I	probably benign	Het
Vmn2r39	A	G	7: 9,023,676	I442T	probably benign	Het
Wwc1	T	C	11: 35,876,566	T413A	probably benign	Het
Zfp131	A	C	13: 119,782,913	V77G	probably damaging	Het
Zfyve26	T	C	12: 79,287,833	D137G	probably damaging	Het

Other mutations in Dscam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Dscam	APN	16	96608065	missense	possibly damaging	0.64
IGL00841:Dscam	APN	16	96819877	missense	probably damaging	1.00
IGL01289:Dscam	APN	16	96643882	nonsense	probably null
IGL01358:Dscam	APN	16	96610343	missense	possibly damaging	0.68
IGL01431:Dscam	APN	16	96652078	critical splice donor site	probably null
IGL01444:Dscam	APN	16	96673709	missense	possibly damaging	0.95
IGL01767:Dscam	APN	16	96654936	missense	probably damaging	1.00
IGL01866:Dscam	APN	16	96685350	missense	probably benign	0.06
IGL02020:Dscam	APN	16	96716069	missense	probably damaging	1.00
IGL02023:Dscam	APN	16	96801197	missense	probably benign	0.06
IGL02057:Dscam	APN	16	96716073	nonsense	probably null
IGL02389:Dscam	APN	16	96640897	missense	probably benign	0.27
IGL02409:Dscam	APN	16	96819888	missense	possibly damaging	0.46
IGL02694:Dscam	APN	16	96593276	missense	probably benign	0.00
IGL02899:Dscam	APN	16	96709247	missense	probably damaging	0.98
IGL02956:Dscam	APN	16	96801272	missense	probably damaging	0.98
IGL03035:Dscam	APN	16	96819970	missense	possibly damaging	0.94
IGL03191:Dscam	APN	16	96820769	missense	probably benign	0.36
F6893:Dscam	UTSW	16	97056460	missense	possibly damaging	0.78
K3955:Dscam	UTSW	16	96673687	missense	probably benign	0.00
R0024:Dscam	UTSW	16	96593385	nonsense	probably null
R0057:Dscam	UTSW	16	96673736	missense	probably damaging	1.00
R0057:Dscam	UTSW	16	96673736	missense	probably damaging	1.00
R0117:Dscam	UTSW	16	96673678	missense	probably benign	0.33
R0211:Dscam	UTSW	16	96716079	missense	possibly damaging	0.50
R0280:Dscam	UTSW	16	97039006	missense	possibly damaging	0.62
R0355:Dscam	UTSW	16	96654905	missense	probably benign	0.00
R0380:Dscam	UTSW	16	97056610	missense	probably damaging	1.00
R0445:Dscam	UTSW	16	96772503	missense	probably damaging	1.00
R0492:Dscam	UTSW	16	96825782	splice site	probably null
R0534:Dscam	UTSW	16	96652172	missense	possibly damaging	0.67
R0593:Dscam	UTSW	16	96772408	missense	probably benign	0.19
R0707:Dscam	UTSW	16	96825782	splice site	probably null
R0738:Dscam	UTSW	16	96819781	missense	possibly damaging	0.48
R1017:Dscam	UTSW	16	96833433	missense	probably damaging	1.00
R1377:Dscam	UTSW	16	96772494	missense	probably damaging	1.00
R1440:Dscam	UTSW	16	96819951	missense	probably damaging	1.00
R1442:Dscam	UTSW	16	96608074	missense	possibly damaging	0.94
R1464:Dscam	UTSW	16	96801253	missense	possibly damaging	0.94
R1464:Dscam	UTSW	16	96801253	missense	possibly damaging	0.94
R1478:Dscam	UTSW	16	96790910	missense	probably benign	0.15
R1530:Dscam	UTSW	16	96819874	missense	probably damaging	1.00
R1731:Dscam	UTSW	16	96819876	missense	probably damaging	1.00
R1765:Dscam	UTSW	16	96685379	missense	probably benign	0.00
R1824:Dscam	UTSW	16	96825581	missense	probably benign	0.00
R1933:Dscam	UTSW	16	96593214	missense	probably benign	0.00
R2005:Dscam	UTSW	16	97038920	missense	probably benign	0.02
R2006:Dscam	UTSW	16	96819912	missense	probably damaging	1.00
R2101:Dscam	UTSW	16	96610349	missense	probably benign	0.00
R2177:Dscam	UTSW	16	96610324	missense	probably damaging	0.98
R2342:Dscam	UTSW	16	96619502	missense	probably damaging	1.00
R2851:Dscam	UTSW	16	96622715	missense	possibly damaging	0.94
R2929:Dscam	UTSW	16	96685412	missense	possibly damaging	0.76
R3055:Dscam	UTSW	16	96801355	missense	probably damaging	1.00
R3157:Dscam	UTSW	16	96678510	missense	probably benign	0.16
R3159:Dscam	UTSW	16	96678510	missense	probably benign	0.16
R3944:Dscam	UTSW	16	96820997	missense	probably damaging	0.99
R4080:Dscam	UTSW	16	96683772	missense	probably benign	0.01
R4285:Dscam	UTSW	16	96709109	critical splice donor site	probably null
R4384:Dscam	UTSW	16	96709216	missense	probably damaging	0.99
R4460:Dscam	UTSW	16	96610319	missense	probably damaging	1.00
R4575:Dscam	UTSW	16	96825623	missense	possibly damaging	0.82
R4594:Dscam	UTSW	16	96717996	missense	possibly damaging	0.78
R4643:Dscam	UTSW	16	96685301	missense	probably damaging	0.96
R4698:Dscam	UTSW	16	96610324	missense	probably damaging	1.00
R4716:Dscam	UTSW	16	96619571	missense	possibly damaging	0.80
R4743:Dscam	UTSW	16	96830056	missense	probably benign	0.00
R4766:Dscam	UTSW	16	96643988	missense	probably benign	0.02
R4899:Dscam	UTSW	16	96683818	missense	probably benign	0.01
R4987:Dscam	UTSW	16	96697521	missense	probably benign	0.00
R5123:Dscam	UTSW	16	96772437	missense	probably damaging	1.00
R5130:Dscam	UTSW	16	96819779	missense	probably benign	0.00
R5328:Dscam	UTSW	16	96673678	missense	probably benign	0.33
R5666:Dscam	UTSW	16	96718164	missense	probably benign	0.23
R5670:Dscam	UTSW	16	96718164	missense	probably benign	0.23
R5678:Dscam	UTSW	16	96790900	missense	probably benign	0.16
R5827:Dscam	UTSW	16	96649991	critical splice donor site	probably null
R5907:Dscam	UTSW	16	96820920	missense	probably damaging	0.97
R6032:Dscam	UTSW	16	96649991	critical splice donor site	probably null
R6032:Dscam	UTSW	16	96649991	critical splice donor site	probably null
R6103:Dscam	UTSW	16	96825581	missense	probably benign
R6240:Dscam	UTSW	16	96619502	missense	probably damaging	1.00
R6257:Dscam	UTSW	16	96673714	missense	possibly damaging	0.94
R6361:Dscam	UTSW	16	96622811	missense	probably benign	0.08
R6405:Dscam	UTSW	16	96678425	missense	probably damaging	1.00
R6444:Dscam	UTSW	16	96619644	missense	probably damaging	1.00
R6560:Dscam	UTSW	16	96825735	missense	probably benign	0.00
R6598:Dscam	UTSW	16	96819784	missense	probably damaging	1.00
R6622:Dscam	UTSW	16	96645073	missense	probably benign	0.06
R6792:Dscam	UTSW	16	96593255	missense	probably damaging	0.96
R6792:Dscam	UTSW	16	96648237	missense	probably damaging	1.00
R6827:Dscam	UTSW	16	97038991	missense	probably damaging	1.00
R6868:Dscam	UTSW	16	96829940	missense	probably damaging	1.00
R6898:Dscam	UTSW	16	96829900	missense	probably benign	0.02
R6903:Dscam	UTSW	16	96820788	missense	probably damaging	1.00
R7051:Dscam	UTSW	16	96819786	missense	probably benign	0.01
R7146:Dscam	UTSW	16	96829917	nonsense	probably null
R7180:Dscam	UTSW	16	96825564	missense	probably damaging	0.97
R7209:Dscam	UTSW	16	96650344	intron	probably null
R7247:Dscam	UTSW	16	96820808	missense	probably damaging	0.99
R7269:Dscam	UTSW	16	96678401	missense	probably benign	0.00
R7301:Dscam	UTSW	16	97056532	missense	probably benign	0.01
R7328:Dscam	UTSW	16	96645035	nonsense	probably null
R7368:Dscam	UTSW	16	96643931	missense	probably benign	0.00
R7425:Dscam	UTSW	16	96629398	missense	probably damaging	1.00
R7474:Dscam	UTSW	16	96819889	missense	possibly damaging	0.88
R7536:Dscam	UTSW	16	96641026	intron	probably null
R7624:Dscam	UTSW	16	96610324	missense	probably damaging	1.00
R7766:Dscam	UTSW	16	96790901	missense	probably benign	0.31
R7817:Dscam	UTSW	16	96640864	missense	probably benign
R7843:Dscam	UTSW	16	96825630	missense	probably damaging	0.99
R7911:Dscam	UTSW	16	96643922	missense	probably benign	0.01
R7926:Dscam	UTSW	16	96825630	missense	probably damaging	0.99
R7961:Dscam	UTSW	16	96709421	intron	probably null
R7992:Dscam	UTSW	16	96643922	missense	probably benign	0.01
X0025:Dscam	UTSW	16	96709161	missense	probably damaging	1.00
Z1088:Dscam	UTSW	16	96772561	missense	probably benign	0.01
Z1177:Dscam	UTSW	16	96608189	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTCAGGCAACACTGTTCCAC -3'
(R):5'- CCTGCAGTGTGACAGGAAATG -3'

Sequencing Primer
(F):5'- ATGAGAACACTGTCTCTCCTTTG -3'
(R):5'- GGAAATGAAGACCAGGAACTCTCC -3'

Posted On

2016-05-10