Mutagenetix > Incidental Mutation

Incidental Mutation 'R7624:Dscam'

589354

Institutional Source

Beutler Lab

Gene Symbol

Dscam

Ensembl Gene

ENSMUSG00000050272

Gene Name

DS cell adhesion molecule

Synonyms

4932410A21Rik, Down syndrome cell adhesion molecule

MMRRC Submission

045689-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7624 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96392040-96971952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96411524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1784 (D1784G)

Ref Sequence

ENSEMBL: ENSMUSP00000056040 (fasta)

Gene Model

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

AlphaFold

Q9ERC8

Predicted Effect

probably damaging
Transcript: ENSMUST00000056102
AA Change: D1784G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272
AA Change: D1784G

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

Meta Mutation Damage Score

0.0950

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (69/70)

MGI Phenotype

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atm	C	A	9: 53,366,068 (GRCm39)	R2533L	probably damaging	Het
Caprin1	T	A	2: 103,603,022 (GRCm39)	M514L	possibly damaging	Het
Ccdc78	A	G	17: 26,006,126 (GRCm39)	E98G	probably damaging	Het
Cmya5	A	T	13: 93,226,865 (GRCm39)	M2741K	possibly damaging	Het
Cnot1	T	G	8: 96,478,447 (GRCm39)	R959S	probably damaging	Het
Col12a1	G	T	9: 79,553,076 (GRCm39)		probably null	Het
Col4a3	A	G	1: 82,696,605 (GRCm39)	T177A	probably benign	Het
Cpa3	T	C	3: 20,279,307 (GRCm39)	N211D	possibly damaging	Het
Cripto	C	T	9: 110,775,017 (GRCm39)		probably benign	Het
Cryba1	T	C	11: 77,613,543 (GRCm39)	Y36C	probably damaging	Het
Ctnna1	T	A	18: 35,377,897 (GRCm39)	I632N	probably benign	Het
D630045J12Rik	T	C	6: 38,126,498 (GRCm39)	N1504S	probably damaging	Het
Dgkz	C	A	2: 91,773,019 (GRCm39)	R346L	probably damaging	Het
Dnajc21	G	A	15: 10,461,318 (GRCm39)	R211C	probably benign	Het
Dnajc21	A	T	15: 10,461,320 (GRCm39)	I210N	probably damaging	Het
Eya3	A	G	4: 132,400,262 (GRCm39)	T94A	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat3	T	C	9: 15,871,165 (GRCm39)	D3742G	possibly damaging	Het
Ficd	T	C	5: 113,876,751 (GRCm39)	F309L	probably benign	Het
Gfra1	A	T	19: 58,226,878 (GRCm39)	M451K	probably benign	Het
Gm43517	T	A	12: 49,437,961 (GRCm39)	L318Q		Het
Gsc	A	T	12: 104,439,310 (GRCm39)	V22E	possibly damaging	Het
Il4ra	T	C	7: 125,168,280 (GRCm39)	Y100H	probably damaging	Het
Ilf3	T	C	9: 21,309,340 (GRCm39)	S486P	probably benign	Het
Itga10	T	A	3: 96,560,269 (GRCm39)	H594Q	probably benign	Het
Kcnf1	T	C	12: 17,226,137 (GRCm39)	D28G	probably benign	Het
Kiss1	A	G	1: 133,257,160 (GRCm39)	K53R	possibly damaging	Het
Lcn5	A	G	2: 25,551,426 (GRCm39)	I182V	probably benign	Het
Lcorl	T	C	5: 45,859,307 (GRCm39)	D269G	probably benign	Het
Letm2	A	T	8: 26,082,553 (GRCm39)	C174*	probably null	Het
Met	T	G	6: 17,558,834 (GRCm39)	V1154G	probably damaging	Het
Mindy3	A	G	2: 12,424,000 (GRCm39)	S22P	probably benign	Het
Mroh2b	G	A	15: 4,946,613 (GRCm39)	R471Q	probably damaging	Het
Nfe2l3	T	C	6: 51,435,252 (GRCm39)	L604P	probably damaging	Het
Or12e10	A	G	2: 87,640,683 (GRCm39)	Q173R	probably damaging	Het
Or14a256	A	G	7: 86,265,769 (GRCm39)	F28S	possibly damaging	Het
Or5h18	T	A	16: 58,847,382 (GRCm39)	Q296L	possibly damaging	Het
Or8b3b	C	T	9: 38,583,919 (GRCm39)	V274I	probably benign	Het
Or8u9	A	T	2: 86,001,564 (GRCm39)	I199N	possibly damaging	Het
Or9r7	A	C	10: 129,962,455 (GRCm39)	I157S	probably damaging	Het
Pcdha9	T	A	18: 37,132,849 (GRCm39)	Y639*	probably null	Het
Pom121l2	A	T	13: 22,167,699 (GRCm39)	I657L	probably damaging	Het
Prr14l	T	A	5: 32,986,967 (GRCm39)	T843S	possibly damaging	Het
Rln1	A	T	19: 29,309,499 (GRCm39)	N93K	probably damaging	Het
Rpl3l	A	T	17: 24,951,401 (GRCm39)	M101L	probably benign	Het
Rtkn	A	G	6: 83,129,158 (GRCm39)	Y551C	probably benign	Het
Rundc1	G	C	11: 101,324,305 (GRCm39)	R337P	possibly damaging	Het
Scarf1	T	A	11: 75,405,242 (GRCm39)		probably null	Het
Serpinb1b	T	A	13: 33,275,622 (GRCm39)		probably null	Het
Sgsm1	A	T	5: 113,422,201 (GRCm39)	C484*	probably null	Het
Slc22a19	T	A	19: 7,650,668 (GRCm39)	K547*	probably null	Het
Slc22a19	T	C	19: 7,671,183 (GRCm39)	T177A	probably benign	Het
Slc6a5	A	C	7: 49,591,614 (GRCm39)	K526N	probably benign	Het
Sqle	G	A	15: 59,202,603 (GRCm39)	R519Q	probably benign	Het
Stard9	T	C	2: 120,518,627 (GRCm39)	I517T	probably benign	Het
Taf15	A	T	11: 83,395,849 (GRCm39)	D518V	unknown	Het
Tenm4	A	G	7: 96,545,192 (GRCm39)	M2440V	possibly damaging	Het
Tm6sf1	A	G	7: 81,518,458 (GRCm39)	M122V	possibly damaging	Het
Tmprss9	T	A	10: 80,728,053 (GRCm39)	S548T	possibly damaging	Het
Trim62	A	T	4: 128,777,471 (GRCm39)		probably benign	Het
Ugt2b34	C	T	5: 87,039,141 (GRCm39)	V507M	possibly damaging	Het
Usp16	T	A	16: 87,273,693 (GRCm39)	M423K	probably benign	Het
Vmn1r199	T	A	13: 22,566,906 (GRCm39)	S67T	probably benign	Het
Vmn1r62	A	T	7: 5,678,600 (GRCm39)	M94L	probably benign	Het
Wnk4	G	T	11: 101,155,180 (GRCm39)	E364*	probably null	Het
Xpo1	T	A	11: 23,232,584 (GRCm39)	I368N	probably damaging	Het
Zfp366	A	G	13: 99,382,804 (GRCm39)	T656A	probably benign	Het
Zfp934	T	C	13: 62,666,338 (GRCm39)	M113V	probably benign	Het
Zkscan2	A	G	7: 123,097,994 (GRCm39)	V134A	probably damaging	Het

Other mutations in Dscam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Dscam	APN	16	96,409,265 (GRCm39)	missense	possibly damaging	0.64
IGL00841:Dscam	APN	16	96,621,077 (GRCm39)	missense	probably damaging	1.00
IGL01289:Dscam	APN	16	96,445,082 (GRCm39)	nonsense	probably null
IGL01358:Dscam	APN	16	96,411,543 (GRCm39)	missense	possibly damaging	0.68
IGL01431:Dscam	APN	16	96,453,278 (GRCm39)	critical splice donor site	probably null
IGL01444:Dscam	APN	16	96,474,909 (GRCm39)	missense	possibly damaging	0.95
IGL01767:Dscam	APN	16	96,456,136 (GRCm39)	missense	probably damaging	1.00
IGL01866:Dscam	APN	16	96,486,550 (GRCm39)	missense	probably benign	0.06
IGL02020:Dscam	APN	16	96,517,269 (GRCm39)	missense	probably damaging	1.00
IGL02023:Dscam	APN	16	96,602,397 (GRCm39)	missense	probably benign	0.06
IGL02057:Dscam	APN	16	96,517,273 (GRCm39)	nonsense	probably null
IGL02389:Dscam	APN	16	96,442,097 (GRCm39)	missense	probably benign	0.27
IGL02409:Dscam	APN	16	96,621,088 (GRCm39)	missense	possibly damaging	0.46
IGL02694:Dscam	APN	16	96,394,476 (GRCm39)	missense	probably benign	0.00
IGL02899:Dscam	APN	16	96,510,447 (GRCm39)	missense	probably damaging	0.98
IGL02956:Dscam	APN	16	96,602,472 (GRCm39)	missense	probably damaging	0.98
IGL03035:Dscam	APN	16	96,621,170 (GRCm39)	missense	possibly damaging	0.94
IGL03191:Dscam	APN	16	96,621,969 (GRCm39)	missense	probably benign	0.36
growler	UTSW	16	96,622,197 (GRCm39)	missense	probably damaging	0.99
Twostep	UTSW	16	96,626,982 (GRCm39)	splice site	probably null
F6893:Dscam	UTSW	16	96,857,660 (GRCm39)	missense	possibly damaging	0.78
K3955:Dscam	UTSW	16	96,474,887 (GRCm39)	missense	probably benign	0.00
R0024:Dscam	UTSW	16	96,394,585 (GRCm39)	nonsense	probably null
R0057:Dscam	UTSW	16	96,474,936 (GRCm39)	missense	probably damaging	1.00
R0057:Dscam	UTSW	16	96,474,936 (GRCm39)	missense	probably damaging	1.00
R0117:Dscam	UTSW	16	96,474,878 (GRCm39)	missense	probably benign	0.33
R0211:Dscam	UTSW	16	96,517,279 (GRCm39)	missense	possibly damaging	0.50
R0280:Dscam	UTSW	16	96,840,206 (GRCm39)	missense	possibly damaging	0.62
R0355:Dscam	UTSW	16	96,456,105 (GRCm39)	missense	probably benign	0.00
R0380:Dscam	UTSW	16	96,857,810 (GRCm39)	missense	probably damaging	1.00
R0445:Dscam	UTSW	16	96,573,703 (GRCm39)	missense	probably damaging	1.00
R0492:Dscam	UTSW	16	96,626,982 (GRCm39)	splice site	probably null
R0534:Dscam	UTSW	16	96,453,372 (GRCm39)	missense	possibly damaging	0.67
R0593:Dscam	UTSW	16	96,573,608 (GRCm39)	missense	probably benign	0.19
R0707:Dscam	UTSW	16	96,626,982 (GRCm39)	splice site	probably null
R0738:Dscam	UTSW	16	96,620,981 (GRCm39)	missense	possibly damaging	0.48
R1017:Dscam	UTSW	16	96,634,633 (GRCm39)	missense	probably damaging	1.00
R1377:Dscam	UTSW	16	96,573,694 (GRCm39)	missense	probably damaging	1.00
R1440:Dscam	UTSW	16	96,621,151 (GRCm39)	missense	probably damaging	1.00
R1442:Dscam	UTSW	16	96,409,274 (GRCm39)	missense	possibly damaging	0.94
R1464:Dscam	UTSW	16	96,602,453 (GRCm39)	missense	possibly damaging	0.94
R1464:Dscam	UTSW	16	96,602,453 (GRCm39)	missense	possibly damaging	0.94
R1478:Dscam	UTSW	16	96,592,110 (GRCm39)	missense	probably benign	0.15
R1530:Dscam	UTSW	16	96,621,074 (GRCm39)	missense	probably damaging	1.00
R1731:Dscam	UTSW	16	96,621,076 (GRCm39)	missense	probably damaging	1.00
R1765:Dscam	UTSW	16	96,486,579 (GRCm39)	missense	probably benign	0.00
R1824:Dscam	UTSW	16	96,626,781 (GRCm39)	missense	probably benign	0.00
R1933:Dscam	UTSW	16	96,394,414 (GRCm39)	missense	probably benign	0.00
R2005:Dscam	UTSW	16	96,840,120 (GRCm39)	missense	probably benign	0.02
R2006:Dscam	UTSW	16	96,621,112 (GRCm39)	missense	probably damaging	1.00
R2101:Dscam	UTSW	16	96,411,549 (GRCm39)	missense	probably benign	0.00
R2177:Dscam	UTSW	16	96,411,524 (GRCm39)	missense	probably damaging	0.98
R2342:Dscam	UTSW	16	96,420,702 (GRCm39)	missense	probably damaging	1.00
R2851:Dscam	UTSW	16	96,423,915 (GRCm39)	missense	possibly damaging	0.94
R2929:Dscam	UTSW	16	96,486,612 (GRCm39)	missense	possibly damaging	0.76
R3055:Dscam	UTSW	16	96,602,555 (GRCm39)	missense	probably damaging	1.00
R3157:Dscam	UTSW	16	96,479,710 (GRCm39)	missense	probably benign	0.16
R3159:Dscam	UTSW	16	96,479,710 (GRCm39)	missense	probably benign	0.16
R3944:Dscam	UTSW	16	96,622,197 (GRCm39)	missense	probably damaging	0.99
R4080:Dscam	UTSW	16	96,484,972 (GRCm39)	missense	probably benign	0.01
R4285:Dscam	UTSW	16	96,510,309 (GRCm39)	critical splice donor site	probably null
R4384:Dscam	UTSW	16	96,510,416 (GRCm39)	missense	probably damaging	0.99
R4460:Dscam	UTSW	16	96,411,519 (GRCm39)	missense	probably damaging	1.00
R4575:Dscam	UTSW	16	96,626,823 (GRCm39)	missense	possibly damaging	0.82
R4594:Dscam	UTSW	16	96,519,196 (GRCm39)	missense	possibly damaging	0.78
R4643:Dscam	UTSW	16	96,486,501 (GRCm39)	missense	probably damaging	0.96
R4698:Dscam	UTSW	16	96,411,524 (GRCm39)	missense	probably damaging	1.00
R4716:Dscam	UTSW	16	96,420,771 (GRCm39)	missense	possibly damaging	0.80
R4743:Dscam	UTSW	16	96,631,256 (GRCm39)	missense	probably benign	0.00
R4766:Dscam	UTSW	16	96,445,188 (GRCm39)	missense	probably benign	0.02
R4899:Dscam	UTSW	16	96,485,018 (GRCm39)	missense	probably benign	0.01
R4987:Dscam	UTSW	16	96,498,721 (GRCm39)	missense	probably benign	0.00
R4990:Dscam	UTSW	16	96,626,715 (GRCm39)	missense	probably benign	0.12
R5123:Dscam	UTSW	16	96,573,637 (GRCm39)	missense	probably damaging	1.00
R5130:Dscam	UTSW	16	96,620,979 (GRCm39)	missense	probably benign	0.00
R5328:Dscam	UTSW	16	96,474,878 (GRCm39)	missense	probably benign	0.33
R5666:Dscam	UTSW	16	96,519,364 (GRCm39)	missense	probably benign	0.23
R5670:Dscam	UTSW	16	96,519,364 (GRCm39)	missense	probably benign	0.23
R5678:Dscam	UTSW	16	96,592,100 (GRCm39)	missense	probably benign	0.16
R5827:Dscam	UTSW	16	96,451,191 (GRCm39)	critical splice donor site	probably null
R5907:Dscam	UTSW	16	96,622,120 (GRCm39)	missense	probably damaging	0.97
R6032:Dscam	UTSW	16	96,451,191 (GRCm39)	critical splice donor site	probably null
R6032:Dscam	UTSW	16	96,451,191 (GRCm39)	critical splice donor site	probably null
R6103:Dscam	UTSW	16	96,626,781 (GRCm39)	missense	probably benign
R6240:Dscam	UTSW	16	96,420,702 (GRCm39)	missense	probably damaging	1.00
R6257:Dscam	UTSW	16	96,474,914 (GRCm39)	missense	possibly damaging	0.94
R6361:Dscam	UTSW	16	96,424,011 (GRCm39)	missense	probably benign	0.08
R6405:Dscam	UTSW	16	96,479,625 (GRCm39)	missense	probably damaging	1.00
R6444:Dscam	UTSW	16	96,420,844 (GRCm39)	missense	probably damaging	1.00
R6560:Dscam	UTSW	16	96,626,935 (GRCm39)	missense	probably benign	0.00
R6598:Dscam	UTSW	16	96,620,984 (GRCm39)	missense	probably damaging	1.00
R6622:Dscam	UTSW	16	96,446,273 (GRCm39)	missense	probably benign	0.06
R6792:Dscam	UTSW	16	96,449,437 (GRCm39)	missense	probably damaging	1.00
R6792:Dscam	UTSW	16	96,394,455 (GRCm39)	missense	probably damaging	0.96
R6827:Dscam	UTSW	16	96,840,191 (GRCm39)	missense	probably damaging	1.00
R6868:Dscam	UTSW	16	96,631,140 (GRCm39)	missense	probably damaging	1.00
R6898:Dscam	UTSW	16	96,631,100 (GRCm39)	missense	probably benign	0.02
R6903:Dscam	UTSW	16	96,621,988 (GRCm39)	missense	probably damaging	1.00
R7051:Dscam	UTSW	16	96,620,986 (GRCm39)	missense	probably benign	0.01
R7146:Dscam	UTSW	16	96,631,117 (GRCm39)	nonsense	probably null
R7180:Dscam	UTSW	16	96,626,764 (GRCm39)	missense	probably damaging	0.97
R7209:Dscam	UTSW	16	96,451,544 (GRCm39)	splice site	probably null
R7247:Dscam	UTSW	16	96,622,008 (GRCm39)	missense	probably damaging	0.99
R7269:Dscam	UTSW	16	96,479,601 (GRCm39)	missense	probably benign	0.00
R7301:Dscam	UTSW	16	96,857,732 (GRCm39)	missense	probably benign	0.01
R7328:Dscam	UTSW	16	96,446,235 (GRCm39)	nonsense	probably null
R7368:Dscam	UTSW	16	96,445,131 (GRCm39)	missense	probably benign	0.00
R7425:Dscam	UTSW	16	96,430,598 (GRCm39)	missense	probably damaging	1.00
R7474:Dscam	UTSW	16	96,621,089 (GRCm39)	missense	possibly damaging	0.88
R7536:Dscam	UTSW	16	96,442,226 (GRCm39)	splice site	probably null
R7766:Dscam	UTSW	16	96,592,101 (GRCm39)	missense	probably benign	0.31
R7817:Dscam	UTSW	16	96,442,064 (GRCm39)	missense	probably benign
R7843:Dscam	UTSW	16	96,626,830 (GRCm39)	missense	probably damaging	0.99
R7911:Dscam	UTSW	16	96,445,122 (GRCm39)	missense	probably benign	0.01
R8108:Dscam	UTSW	16	96,445,079 (GRCm39)	missense	probably benign	0.01
R8128:Dscam	UTSW	16	96,602,374 (GRCm39)	splice site	probably null
R8770:Dscam	UTSW	16	96,456,106 (GRCm39)	missense	possibly damaging	0.50
R8876:Dscam	UTSW	16	96,420,828 (GRCm39)	missense	probably damaging	0.96
R9005:Dscam	UTSW	16	96,602,580 (GRCm39)	missense	probably damaging	1.00
R9009:Dscam	UTSW	16	96,840,116 (GRCm39)	missense	probably benign	0.10
R9168:Dscam	UTSW	16	96,420,768 (GRCm39)	missense	possibly damaging	0.82
R9176:Dscam	UTSW	16	96,486,553 (GRCm39)	missense	probably benign	0.37
R9244:Dscam	UTSW	16	96,486,429 (GRCm39)	missense	possibly damaging	0.62
R9339:Dscam	UTSW	16	96,517,263 (GRCm39)	missense	possibly damaging	0.89
R9374:Dscam	UTSW	16	96,857,857 (GRCm39)	missense	probably benign	0.19
R9385:Dscam	UTSW	16	96,840,203 (GRCm39)	missense	probably benign
R9674:Dscam	UTSW	16	96,442,036 (GRCm39)	missense	probably benign	0.03
X0025:Dscam	UTSW	16	96,510,361 (GRCm39)	missense	probably damaging	1.00
Z1088:Dscam	UTSW	16	96,573,761 (GRCm39)	missense	probably benign	0.01
Z1177:Dscam	UTSW	16	96,409,389 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTCAATCCTGCAGAACTCAGTAAG -3'
(R):5'- TTGTTGCAGATCCCACCACC -3'

Sequencing Primer
(F):5'- CTGCAGAACTCAGTAAGGCCTTG -3'
(R):5'- CACCACCAGGAGGAATGC -3'

Posted On

2019-10-24