Mutagenetix > Incidental Mutation

Incidental Mutation 'R7209:Dscam'

568665

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

045338-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7209 (G1)

Quality Score

97.0078

Status

Validated

Chromosome

Chromosomal Location

96392040-96971952 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 96451544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000056040 (fasta)

Gene Model

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

AlphaFold

Q9ERC8

Predicted Effect

probably null
Transcript: ENSMUST00000056102

SMART Domains

Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (67/67)

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
Adam7	A	G	14: 68,767,268 (GRCm39)	Y61H	probably damaging	Het
Adgrb1	T	G	15: 74,441,797 (GRCm39)	V966G	possibly damaging	Het
Adh5	G	A	3: 138,148,909 (GRCm39)		probably benign	Het
Akr1b8	T	C	6: 34,333,207 (GRCm39)	V28A	probably damaging	Het
Apbb1	T	A	7: 105,215,292 (GRCm39)	I450F	probably damaging	Het
Arhgap23	C	T	11: 97,366,911 (GRCm39)	T1064I	probably damaging	Het
Arhgap23	G	C	11: 97,383,273 (GRCm39)		probably null	Het
Atg4b	A	G	1: 93,702,955 (GRCm39)	I128M	probably damaging	Het
Baat	A	T	4: 49,503,065 (GRCm39)	I19N	probably damaging	Het
Bspry	T	G	4: 62,404,852 (GRCm39)	I216S	possibly damaging	Het
Commd9	T	A	2: 101,725,483 (GRCm39)	S19T	possibly damaging	Het
Cr2	A	G	1: 194,851,032 (GRCm39)	C145R	probably damaging	Het
Cyp2c68	A	G	19: 39,677,649 (GRCm39)	L447P	probably damaging	Het
Depdc1b	T	C	13: 108,519,389 (GRCm39)	M333T	possibly damaging	Het
Dhx9	T	C	1: 153,340,369 (GRCm39)	T710A	possibly damaging	Het
Dnah5	T	C	15: 28,459,371 (GRCm39)	V4530A	possibly damaging	Het
Dohh	T	A	10: 81,221,874 (GRCm39)	H89Q	probably damaging	Het
Dop1b	T	A	16: 93,566,733 (GRCm39)	N1171K	probably benign	Het
Entpd5	T	A	12: 84,443,702 (GRCm39)	S14C	probably benign	Het
Eqtn	G	A	4: 94,813,806 (GRCm39)	S125F	probably damaging	Het
Erp44	A	T	4: 48,211,704 (GRCm39)	D197E	probably benign	Het
Fgf18	A	T	11: 33,084,315 (GRCm39)	D46E	probably benign	Het
Foxa1	T	A	12: 57,590,077 (GRCm39)	M48L	probably benign	Het
Gabrg1	C	A	5: 70,911,513 (GRCm39)	C417F	probably damaging	Het
Glrp1	T	A	1: 88,431,004 (GRCm39)	Q122L	unknown	Het
Gm5622	A	G	14: 51,893,363 (GRCm39)	I97V	possibly damaging	Het
Gusb	A	G	5: 130,027,387 (GRCm39)	V306A	probably benign	Het
Hars1	A	G	18: 36,906,593 (GRCm39)	S126P	probably benign	Het
Herc1	A	G	9: 66,292,314 (GRCm39)	S356G	possibly damaging	Het
Hydin	C	A	8: 111,216,424 (GRCm39)	Y1336*	probably null	Het
Iftap	T	C	2: 101,396,727 (GRCm39)	*217W	probably null	Het
Kin	T	C	2: 10,096,564 (GRCm39)	Y138H	possibly damaging	Het
Lypd2	C	T	15: 74,604,266 (GRCm39)	V101M	probably benign	Het
Madcam1	A	T	10: 79,500,892 (GRCm39)	T70S	possibly damaging	Het
Man1a2	A	G	3: 100,554,395 (GRCm39)	C112R	unknown	Het
Mia2	T	A	12: 59,201,176 (GRCm39)	V198E	possibly damaging	Het
Mpdz	C	T	4: 81,225,114 (GRCm39)	V1438M	possibly damaging	Het
Mtif2	G	A	11: 29,479,996 (GRCm39)	V21M	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nln	G	A	13: 104,209,406 (GRCm39)	Q56*	probably null	Het
Nlrp4b	T	C	7: 10,444,297 (GRCm39)	V82A	probably benign	Het
Obscn	C	A	11: 58,975,933 (GRCm39)	E2065*	probably null	Het
Or10g1	A	G	14: 52,647,550 (GRCm39)	C260R	possibly damaging	Het
Pilrb2	C	T	5: 137,869,126 (GRCm39)		probably null	Het
Plekhh1	C	A	12: 79,097,150 (GRCm39)	D99E	probably benign	Het
Polr2b	T	A	5: 77,491,026 (GRCm39)	F956I	probably damaging	Het
Ppp3cc	A	G	14: 70,504,947 (GRCm39)	F20L	probably benign	Het
Prmt9	T	C	8: 78,291,627 (GRCm39)	V333A	probably benign	Het
Psd4	T	C	2: 24,287,357 (GRCm39)	S430P	probably damaging	Het
Relch	C	A	1: 105,678,082 (GRCm39)	P1136T	probably damaging	Het
Rrp12	A	C	19: 41,861,388 (GRCm39)	V973G	possibly damaging	Het
Rxfp2	A	G	5: 149,976,563 (GRCm39)		probably null	Het
S100a6	G	A	3: 90,521,095 (GRCm39)	A8T	possibly damaging	Het
Sgsm2	C	A	11: 74,745,151 (GRCm39)	G717V	probably damaging	Het
Sipa1	A	G	19: 5,705,003 (GRCm39)	Y531H	probably damaging	Het
Slc45a1	A	C	4: 150,719,669 (GRCm39)		probably null	Het
Spopfm3	A	T	3: 94,106,012 (GRCm39)	Q110L	probably benign	Het
Srbd1	C	A	17: 86,308,948 (GRCm39)	L743F	probably damaging	Het
Taar2	A	T	10: 23,816,597 (GRCm39)	I46F	possibly damaging	Het
Tmem241	A	T	18: 12,237,229 (GRCm39)	V69D	probably damaging	Het
Tns1	T	C	1: 73,993,074 (GRCm39)	S535G	possibly damaging	Het
Trgc3	A	G	13: 19,445,334 (GRCm39)	N94S	probably benign	Het
Ttc34	C	A	4: 154,923,585 (GRCm39)	P98Q	probably damaging	Het
Ubr1	C	A	2: 120,693,246 (GRCm39)	R1720L	probably benign	Het
Ubr3	T	A	2: 69,846,478 (GRCm39)	D1597E	probably benign	Het
Unc79	T	C	12: 103,091,883 (GRCm39)	M1930T	probably benign	Het
Vmn2r100	A	T	17: 19,751,576 (GRCm39)	I603F	not run	Het
Vps26b	A	T	9: 26,921,288 (GRCm39)	S304T	probably benign	Het
Zfp952	A	T	17: 33,222,444 (GRCm39)	T308S	possibly 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
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
R7624:Dscam	UTSW	16	96,411,524 (GRCm39)	missense	probably damaging	1.00
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'- CATCAATCGTCACCAGGCTG -3'
(R):5'- ATGATTTTGTCAAGCTGGCCCC -3'

Sequencing Primer
(F):5'- TGCCTCACAGGAAGAAAAATGC -3'
(R):5'- CCTCTACCAGAAAGAGAGTGTC -3'

Posted On

2019-09-06