Mutagenetix > Incidental Mutation

Incidental Mutation 'R1824:Dscam'

206725

Institutional Source

Beutler Lab

Gene Symbol

Dscam

Ensembl Gene

ENSMUSG00000050272

Gene Name

DS cell adhesion molecule

Synonyms

4932410A21Rik

MMRRC Submission

039852-MU

Accession Numbers

Genbank: NM_031174; MGI: 1196281

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1824 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96592079-97170752 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 96825581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 376 (V376G)

Ref Sequence

ENSEMBL: ENSMUSP00000056040 (fasta)

Gene Model

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

AlphaFold

Q9ERC8

Predicted Effect

probably benign
Transcript: ENSMUST00000056102
AA Change: V376G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272
AA Change: V376G

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: 97.4%
3x: 96.8%
10x: 95.2%
20x: 92.2%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	T	C	10: 70,872,256		noncoding transcript	Het
9930021J03Rik	T	C	19: 29,716,414	N1960S	probably damaging	Het
Abl1	T	A	2: 31,800,644	M706K	probably benign	Het
Abtb1	T	C	6: 88,836,554	T401A	probably benign	Het
Acd	A	G	8: 105,700,490	L96P	probably damaging	Het
Arsi	T	A	18: 60,912,297	W20R	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Asic3	C	T	5: 24,413,751	Q14*	probably null	Het
Asxl3	T	A	18: 22,522,068	I1045N	probably damaging	Het
Atr	T	C	9: 95,936,421	I2149T	probably damaging	Het
Begain	A	G	12: 109,033,099		probably null	Het
Brca2	C	T	5: 150,536,922	T554I	possibly damaging	Het
C130079G13Rik	C	A	3: 59,932,580	Y24*	probably null	Het
C1s2	C	T	6: 124,635,682	V11I	probably benign	Het
Cacna1i	T	C	15: 80,376,789	F1333L	possibly damaging	Het
Camsap2	T	C	1: 136,273,783	T662A	possibly damaging	Het
Cep164	C	T	9: 45,778,928	V1367M	probably damaging	Het
Cfap46	C	A	7: 139,639,602	A1316S	probably benign	Het
Cic	T	C	7: 25,288,266	S553P	probably damaging	Het
Clcn2	C	T	16: 20,715,962	A12T	probably benign	Het
Clip2	A	G	5: 134,503,227	Y540H	probably benign	Het
Coil	A	G	11: 88,982,097	N428S	possibly damaging	Het
Cpxm1	A	C	2: 130,395,697	V196G	probably damaging	Het
Cr2	A	G	1: 195,157,316	V601A	probably damaging	Het
Cyp3a25	T	A	5: 145,984,953	K390N	probably damaging	Het
Dclre1a	T	C	19: 56,546,718		probably null	Het
Dennd4a	G	C	9: 64,859,358		probably null	Het
Dlg5	T	C	14: 24,149,444	H1464R	probably benign	Het
Dmac2	T	G	7: 25,624,792	M225R	probably damaging	Het
Dnah8	T	C	17: 30,731,180	V1991A	possibly damaging	Het
Dync1li1	A	G	9: 114,709,184	D203G	probably benign	Het
Eva1c	A	G	16: 90,866,443	T22A	probably benign	Het
Fam110b	A	G	4: 5,799,029	D149G	probably benign	Het
Fras1	A	T	5: 96,770,688	I3528F	probably damaging	Het
Fsip1	T	C	2: 118,232,908	D360G	probably damaging	Het
Galnt14	T	C	17: 73,709,939	T41A	probably benign	Het
Gdf3	T	A	6: 122,609,962	Q2L	probably benign	Het
Glrp1	A	G	1: 88,509,789		probably null	Het
Gm3336	C	G	8: 70,720,417		probably null	Het
Gm8674	C	T	13: 49,900,808		noncoding transcript	Het
Gnat1	A	G	9: 107,676,575	Y226H	probably damaging	Het
Grk5	T	C	19: 61,089,972	V489A	probably damaging	Het
H1foo	A	G	6: 115,948,758	Y1C	probably null	Het
Ick	T	A	9: 78,157,862	D351E	probably benign	Het
Igfbpl1	C	A	4: 45,826,406	A130S	probably benign	Het
Impdh1	T	A	6: 29,205,088	D261V	probably benign	Het
Itgal	T	A	7: 127,314,060	S610T	probably damaging	Het
Jcad	A	G	18: 4,649,293	T55A	probably benign	Het
Jup	G	A	11: 100,374,137	R663*	probably null	Het
Kalrn	C	T	16: 34,294,215	G556D	probably damaging	Het
Krt81	T	C	15: 101,460,139	E411G	probably damaging	Het
Lcat	T	C	8: 105,939,888	E334G	probably damaging	Het
Lhcgr	T	C	17: 88,750,157	E302G	probably benign	Het
Magi1	A	G	6: 93,699,639	V913A	possibly damaging	Het
Mrpl19	A	T	6: 81,964,079		probably null	Het
Muc4	G	T	16: 32,755,933		probably benign	Het
Mycbp2	A	G	14: 103,252,509	V953A	possibly damaging	Het
Myo3a	G	A	2: 22,396,243	V600I	probably benign	Het
Ndufv3	G	A	17: 31,531,245	R467Q	probably damaging	Het
Ngef	A	G	1: 87,503,264		probably null	Het
Nisch	A	T	14: 31,176,432		probably benign	Het
Nlrp4c	G	A	7: 6,066,956		probably null	Het
Nup153	A	T	13: 46,713,747	S154T	probably damaging	Het
Obscn	A	G	11: 58,994,832		probably benign	Het
Olfr1247	G	T	2: 89,609,349	P251H	probably damaging	Het
Olfr31	T	A	14: 14,328,774	L221Q	probably damaging	Het
Olfr818	T	C	10: 129,945,337	M242V	possibly damaging	Het
Otogl	T	C	10: 107,779,831	N1869S	probably benign	Het
Phf24	G	T	4: 42,934,661	C136F	probably damaging	Het
Phldb2	A	T	16: 45,826,011	V65E	probably benign	Het
Pkhd1	C	A	1: 20,347,457	G2490V	probably damaging	Het
Prl8a8	A	T	13: 27,508,450	M186K	probably damaging	Het
Qars	T	C	9: 108,514,610	V70A	probably damaging	Het
Rac1	C	T	5: 143,517,225	V14I	probably benign	Het
Rapgef5	T	A	12: 117,688,684		probably null	Het
Slc16a12	G	A	19: 34,670,878	T405M	possibly damaging	Het
Slc17a6	A	G	7: 51,661,546	Y336C	probably damaging	Het
Slc30a9	T	C	5: 67,348,052	L441P	probably damaging	Het
Slc45a2	T	C	15: 11,022,086	S305P	probably damaging	Het
Sod3	G	T	5: 52,368,162	V68L	probably benign	Het
Sp1	T	G	15: 102,431,003	S773A	possibly damaging	Het
Spen	C	A	4: 141,472,785	G2821C	probably damaging	Het
Tagap1	A	G	17: 6,956,026	S424P	probably benign	Het
Tbc1d22a	T	C	15: 86,235,569	V22A	possibly damaging	Het
Tfec	C	T	6: 16,840,468		probably null	Het
Thsd7a	A	T	6: 12,409,042		probably null	Het
Tnfsf15	C	A	4: 63,733,351	G112V	probably benign	Het
Tnfsf9	A	G	17: 57,105,738	T103A	probably benign	Het
Tnxb	C	T	17: 34,692,333	R1537*	probably null	Het
Tpra1	A	G	6: 88,911,823	N329S	probably benign	Het
Ttc12	A	G	9: 49,456,884	F281S	probably damaging	Het
Unc79	A	G	12: 103,059,320	N322S	probably damaging	Het
Unk	G	T	11: 116,030,442		probably benign	Het
Usp4	G	T	9: 108,348,008	G31W	probably damaging	Het
Vcan	G	T	13: 89,705,212	A543D	possibly damaging	Het
Vil1	A	C	1: 74,418,447	I80L	probably benign	Het
Vmn2r27	C	T	6: 124,231,634	G51S	probably benign	Het
Vpreb1	A	G	16: 16,869,071		probably null	Het
Zbtb6	C	T	2: 37,429,817	C33Y	probably damaging	Het
Zfp330	A	T	8: 82,766,015	C189*	probably null	Het
Zfp942	T	A	17: 21,928,541	H369L	probably damaging	Het
Zfp943	T	A	17: 21,992,380	I149K	probably benign	Het
Zfyve19	G	A	2: 119,211,535	V162M	probably benign	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
growler	UTSW	16	96820997	missense	probably damaging	0.99
Twostep	UTSW	16	96825782	splice site	probably null
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
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
R4990:Dscam	UTSW	16	96825515	missense	probably benign	0.12
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	splice site	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	splice site	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
R8108:Dscam	UTSW	16	96643879	missense	probably benign	0.01
R8128:Dscam	UTSW	16	96801174	splice site	probably null
R8770:Dscam	UTSW	16	96654906	missense	possibly damaging	0.50
R8876:Dscam	UTSW	16	96619628	missense	probably damaging	0.96
R9005:Dscam	UTSW	16	96801380	missense	probably damaging	1.00
R9009:Dscam	UTSW	16	97038916	missense	probably benign	0.10
R9168:Dscam	UTSW	16	96619568	missense	possibly damaging	0.82
R9176:Dscam	UTSW	16	96685353	missense	probably benign	0.37
R9244:Dscam	UTSW	16	96685229	missense	possibly damaging	0.62
R9339:Dscam	UTSW	16	96716063	missense	possibly damaging	0.89
R9374:Dscam	UTSW	16	97056657	missense	probably benign	0.19
R9385:Dscam	UTSW	16	97039003	missense	probably benign
R9674:Dscam	UTSW	16	96640836	missense	probably benign	0.03
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'- TGAGTGACTCTGCATGGCTC -3'
(R):5'- TTTCAACAGTGTCAATACCTTGTGG -3'

Sequencing Primer
(F):5'- GTGACTCTGCATGGCTCTCTCC -3'
(R):5'- TATTTAACTCCCCAGAGCCACTG -3'

Posted On

2014-06-23