Mutagenetix > Incidental Mutation

Incidental Mutation 'R8770:Dscam'

664376

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

068625-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8770 (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 96456106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1274 (E1274G)

Ref Sequence

ENSEMBL: ENSMUSP00000056040 (fasta)

Gene Model

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

AlphaFold

Q9ERC8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056102
AA Change: E1274G

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272
AA Change: E1274G

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: 99.6%
20x: 98.6%

Validation Efficiency

99% (66/67)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	C	17: 14,104,199 (GRCm39)		probably null	Het
Aox1	A	T	1: 58,378,763 (GRCm39)	K1004M	probably benign	Het
Atn1	C	T	6: 124,722,601 (GRCm39)		probably null	Het
Atp8b4	T	C	2: 126,184,915 (GRCm39)	Y916C	probably damaging	Het
Bicd1	T	C	6: 149,420,448 (GRCm39)	L766S	probably damaging	Het
Bmpr2	T	G	1: 59,884,684 (GRCm39)	D223E	probably benign	Het
Bpifc	T	G	10: 85,801,129 (GRCm39)	R406S	probably damaging	Het
Ccl6	A	G	11: 83,479,658 (GRCm39)	I115T	possibly damaging	Het
Cdcp1	A	T	9: 123,006,926 (GRCm39)	I607N	possibly damaging	Het
Cdyl2	T	C	8: 117,321,822 (GRCm39)	Y235C	probably damaging	Het
Clns1a	A	G	7: 97,363,117 (GRCm39)	Q163R	probably benign	Het
Cntn3	T	A	6: 102,254,277 (GRCm39)	M222L	possibly damaging	Het
Cpn1	A	G	19: 43,952,208 (GRCm39)	V358A	probably damaging	Het
Dchs1	G	A	7: 105,420,945 (GRCm39)	R492W	probably damaging	Het
Dmxl2	T	C	9: 54,311,298 (GRCm39)	T1808A	probably benign	Het
Dnah10	A	G	5: 124,852,410 (GRCm39)	I1880V	possibly damaging	Het
Dnai3	T	C	3: 145,752,298 (GRCm39)	T793A	probably benign	Het
Dtwd1	A	G	2: 125,996,727 (GRCm39)	T71A	probably damaging	Het
Dusp4	T	A	8: 35,274,938 (GRCm39)	M19K	probably benign	Het
Fbxo39	T	C	11: 72,209,285 (GRCm39)	F382L	probably damaging	Het
Fbxw20	A	T	9: 109,046,596 (GRCm39)	C455S	probably benign	Het
Fcmr	T	A	1: 130,803,799 (GRCm39)	V201E	probably benign	Het
Galnt2	C	T	8: 125,061,025 (GRCm39)	R306*	probably null	Het
Gpr156	A	G	16: 37,824,974 (GRCm39)	E397G	possibly damaging	Het
Gzmf	A	T	14: 56,443,951 (GRCm39)	V73D	probably damaging	Het
Hrob	A	G	11: 102,145,976 (GRCm39)	N84S	probably benign	Het
Laptm4b	T	C	15: 34,258,843 (GRCm39)	V39A	possibly damaging	Het
Mlf2	C	A	6: 124,911,259 (GRCm39)	H91Q	probably benign	Het
Mylk3	T	A	8: 86,091,460 (GRCm39)	E115V	probably damaging	Het
Myo6	A	G	9: 80,171,481 (GRCm39)	E494G	unknown	Het
Myo7b	C	T	18: 32,114,124 (GRCm39)	D1076N	probably benign	Het
Neurl1b	A	G	17: 26,650,887 (GRCm39)	D53G	probably damaging	Het
Noc4l	A	G	5: 110,796,758 (GRCm39)	L508P	possibly damaging	Het
Nup210l	C	A	3: 90,025,850 (GRCm39)	F157L	probably damaging	Het
Ogdh	T	C	11: 6,305,336 (GRCm39)	Y959H	probably damaging	Het
Or13c7d	T	G	4: 43,770,813 (GRCm39)	N66T	probably damaging	Het
Or4a73	A	G	2: 89,421,171 (GRCm39)	M96T	probably benign	Het
Pik3ap1	A	G	19: 41,316,599 (GRCm39)	Y264H	possibly damaging	Het
Plb1	T	C	5: 32,404,853 (GRCm39)	Y4H	unknown	Het
Rad21	A	G	15: 51,831,749 (GRCm39)	I444T	probably benign	Het
Recql5	T	C	11: 115,787,943 (GRCm39)	I459V	probably benign	Het
Scaf1	T	C	7: 44,656,129 (GRCm39)	T917A	unknown	Het
Sdc4	C	T	2: 164,270,822 (GRCm39)	V146I	probably damaging	Het
Serpina6	T	C	12: 103,620,198 (GRCm39)	S184G	probably benign	Het
Shkbp1	C	A	7: 27,051,311 (GRCm39)	R218S	possibly damaging	Het
Slc17a3	A	G	13: 24,039,607 (GRCm39)	D255G		Het
Slc7a2	T	G	8: 41,352,267 (GRCm39)	V110G	probably damaging	Het
Slf1	A	C	13: 77,194,766 (GRCm39)	V853G	probably damaging	Het
Smarcad1	T	C	6: 65,029,718 (GRCm39)	V102A	probably benign	Het
Sobp	T	C	10: 43,036,788 (GRCm39)	K50R	probably damaging	Het
Spink10	A	T	18: 62,786,532 (GRCm39)	R47S	probably benign	Het
Sspo	T	A	6: 48,451,206 (GRCm39)	F2720Y	probably null	Het
Tdrkh	T	A	3: 94,336,440 (GRCm39)	V459D	probably damaging	Het
Tent5a	A	G	9: 85,208,803 (GRCm39)	Y7H	probably benign	Het
Tlcd2	T	A	11: 75,360,630 (GRCm39)	D224E	probably damaging	Het
Tln2	T	A	9: 67,230,304 (GRCm39)	Q87L	probably benign	Het
Tmem131	A	T	1: 36,838,186 (GRCm39)		probably benign	Het
Tmem63a	G	A	1: 180,789,961 (GRCm39)	G378R	probably benign	Het
Trank1	C	A	9: 111,219,892 (GRCm39)	Q2210K	probably benign	Het
Trim24	T	A	6: 37,934,435 (GRCm39)		probably benign	Het
Trim37	T	A	11: 87,050,675 (GRCm39)	I238N	probably damaging	Het
Vps39	A	T	2: 120,153,548 (GRCm39)	D675E	probably benign	Het
Zfp229	T	A	17: 21,964,795 (GRCm39)	C342S	probably damaging	Het
Zfp759	A	G	13: 67,288,417 (GRCm39)	H656R	probably damaging	Het
Zfp994	T	C	17: 22,419,980 (GRCm39)	Y323C	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
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
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'- TGTTTAGCAGTGTAGCCATCAGC -3'
(R):5'- AGTGCCACTTGCTTCTGTGG -3'

Sequencing Primer
(F):5'- TTAGTACTGCACTCACCACTAGGG -3'
(R):5'- GGTGATGAAATGTTTCTCTCTCTTC -3'

Posted On

2021-03-08