Mutagenetix > Incidental Mutation

Incidental Mutation 'R6103:Dscam'

485400

Institutional Source

Beutler Lab

Gene Symbol

Dscam

Ensembl Gene

ENSMUSG00000050272

Gene Name

DS cell adhesion molecule

Synonyms

4932410A21Rik

MMRRC Submission

044253-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96592079-97170752 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96825581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 376 (V376A)

Ref Sequence

ENSEMBL: ENSMUSP00000056040 (fasta)

Gene Model

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

AlphaFold

Q9ERC8

Predicted Effect

probably benign
Transcript: ENSMUST00000056102
AA Change: V376A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272
AA Change: V376A

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 46,119,021 (GRCm38)	S926P	possibly damaging	Het
Acacb	T	A	5: 114,245,881 (GRCm38)	M2157K	probably damaging	Het
Aco2	T	C	15: 81,913,251 (GRCm38)	V636A	probably benign	Het
Adgrf3	T	C	5: 30,196,267 (GRCm38)	Y51C	probably damaging	Het
Adprhl1	T	C	8: 13,222,055 (GRCm38)	T1568A	possibly damaging	Het
Ank1	T	A	8: 23,113,983 (GRCm38)	S937T	probably damaging	Het
Ankrd50	T	C	3: 38,454,429 (GRCm38)	E340G	probably damaging	Het
Avpr1b	C	T	1: 131,609,417 (GRCm38)	P90S	probably damaging	Het
Cacna2d3	T	C	14: 29,396,489 (GRCm38)	H159R	probably damaging	Het
Carmil3	A	T	14: 55,505,427 (GRCm38)	T1185S	probably benign	Het
Casp2	A	T	6: 42,279,880 (GRCm38)	R357S	probably damaging	Het
Ccdc34	A	G	2: 110,018,007 (GRCm38)	D47G	probably benign	Het
Cd109	A	G	9: 78,698,314 (GRCm38)		probably null	Het
Cd209d	T	C	8: 3,878,304 (GRCm38)	Y27C	probably damaging	Het
Cep350	T	A	1: 155,924,576 (GRCm38)	D1176V	probably benign	Het
Cpd	A	T	11: 76,799,799 (GRCm38)	S844T	probably benign	Het
Cyp4x1	A	G	4: 115,111,667 (GRCm38)	L380P	probably damaging	Het
Enam	T	A	5: 88,502,328 (GRCm38)	N565K	probably damaging	Het
Fam110c	G	A	12: 31,074,795 (GRCm38)	W252*	probably null	Het
Fbxo6	A	T	4: 148,149,522 (GRCm38)	I39N	probably damaging	Het
Fgb	T	C	3: 83,043,863 (GRCm38)	D281G	probably benign	Het
Frem2	T	A	3: 53,549,788 (GRCm38)	T2048S	probably benign	Het
Fut8	A	T	12: 77,331,947 (GRCm38)		probably benign	Het
Glmp	T	C	3: 88,328,031 (GRCm38)	S238P	probably benign	Het
Gm35315	T	A	5: 110,078,271 (GRCm38)	Y434F	probably damaging	Het
Gnpnat1	A	G	14: 45,383,399 (GRCm38)	F71S	probably damaging	Het
Gpnmb	A	G	6: 49,042,886 (GRCm38)	R64G	possibly damaging	Het
Grxcr1	T	C	5: 68,166,204 (GRCm38)	F275S	possibly damaging	Het
Ift140	T	A	17: 25,093,126 (GRCm38)	C1314S	probably damaging	Het
Kif9	T	C	9: 110,489,849 (GRCm38)	I127T	possibly damaging	Het
Mmd2	A	G	5: 142,567,863 (GRCm38)		probably null	Het
Ms4a3	A	T	19: 11,639,218 (GRCm38)	V20D	possibly damaging	Het
Mtres1	A	T	10: 43,532,920 (GRCm38)	Y76N	probably benign	Het
Myh7b	A	G	2: 155,618,743 (GRCm38)	E272G	probably damaging	Het
Naaladl1	G	A	19: 6,108,713 (GRCm38)	G292S	probably damaging	Het
Notch2	T	A	3: 98,135,743 (GRCm38)	Y1475N	possibly damaging	Het
Obp2a	G	A	2: 25,700,151 (GRCm38)	E21K	probably damaging	Het
Or5ar1	A	G	2: 85,841,432 (GRCm38)	Y120H	probably damaging	Het
Osbpl10	T	A	9: 115,061,872 (GRCm38)	Y109*	probably null	Het
Plcd1	A	T	9: 119,072,041 (GRCm38)	W749R	probably benign	Het
Ptpro	A	G	6: 137,400,706 (GRCm38)	E718G	possibly damaging	Het
Rbm4	C	T	19: 4,787,919 (GRCm38)	R295H	probably damaging	Het
Rsrc1	C	T	3: 66,994,649 (GRCm38)	P44L	unknown	Het
Setdb2	T	C	14: 59,409,532 (GRCm38)		probably null	Het
Slc25a18	C	A	6: 120,789,438 (GRCm38)	L131I	probably damaging	Het
Slc4a10	A	G	2: 62,234,465 (GRCm38)	H221R	probably damaging	Het
Tbc1d32	A	T	10: 56,150,883 (GRCm38)	W757R	probably damaging	Het
Tmem183a	C	A	1: 134,348,146 (GRCm38)	V331L	probably benign	Het
Try10	C	A	6: 41,356,550 (GRCm38)	H76Q	probably damaging	Het
Ttn	T	A	2: 76,918,255 (GRCm38)	H4150L	probably benign	Het
Vmn2r52	G	A	7: 10,171,400 (GRCm38)	P171S	probably benign	Het
Vmn2r88	A	G	14: 51,415,369 (GRCm38)	T450A	probably benign	Het
Yipf7	A	T	5: 69,541,062 (GRCm38)	V34D	probably benign	Het
Zfp647	G	A	15: 76,912,085 (GRCm38)	P125L	probably damaging	Het
Zg16	A	G	7: 127,050,576 (GRCm38)	V71A	probably benign	Het

Other mutations in Dscam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Dscam	APN	16	96,608,065 (GRCm38)	missense	possibly damaging	0.64
IGL00841:Dscam	APN	16	96,819,877 (GRCm38)	missense	probably damaging	1.00
IGL01289:Dscam	APN	16	96,643,882 (GRCm38)	nonsense	probably null
IGL01358:Dscam	APN	16	96,610,343 (GRCm38)	missense	possibly damaging	0.68
IGL01431:Dscam	APN	16	96,652,078 (GRCm38)	critical splice donor site	probably null
IGL01444:Dscam	APN	16	96,673,709 (GRCm38)	missense	possibly damaging	0.95
IGL01767:Dscam	APN	16	96,654,936 (GRCm38)	missense	probably damaging	1.00
IGL01866:Dscam	APN	16	96,685,350 (GRCm38)	missense	probably benign	0.06
IGL02020:Dscam	APN	16	96,716,069 (GRCm38)	missense	probably damaging	1.00
IGL02023:Dscam	APN	16	96,801,197 (GRCm38)	missense	probably benign	0.06
IGL02057:Dscam	APN	16	96,716,073 (GRCm38)	nonsense	probably null
IGL02389:Dscam	APN	16	96,640,897 (GRCm38)	missense	probably benign	0.27
IGL02409:Dscam	APN	16	96,819,888 (GRCm38)	missense	possibly damaging	0.46
IGL02694:Dscam	APN	16	96,593,276 (GRCm38)	missense	probably benign	0.00
IGL02899:Dscam	APN	16	96,709,247 (GRCm38)	missense	probably damaging	0.98
IGL02956:Dscam	APN	16	96,801,272 (GRCm38)	missense	probably damaging	0.98
IGL03035:Dscam	APN	16	96,819,970 (GRCm38)	missense	possibly damaging	0.94
IGL03191:Dscam	APN	16	96,820,769 (GRCm38)	missense	probably benign	0.36
growler	UTSW	16	96,820,997 (GRCm38)	missense	probably damaging	0.99
Twostep	UTSW	16	96,825,782 (GRCm38)	splice site	probably null
F6893:Dscam	UTSW	16	97,056,460 (GRCm38)	missense	possibly damaging	0.78
K3955:Dscam	UTSW	16	96,673,687 (GRCm38)	missense	probably benign	0.00
R0024:Dscam	UTSW	16	96,593,385 (GRCm38)	nonsense	probably null
R0057:Dscam	UTSW	16	96,673,736 (GRCm38)	missense	probably damaging	1.00
R0057:Dscam	UTSW	16	96,673,736 (GRCm38)	missense	probably damaging	1.00
R0117:Dscam	UTSW	16	96,673,678 (GRCm38)	missense	probably benign	0.33
R0211:Dscam	UTSW	16	96,716,079 (GRCm38)	missense	possibly damaging	0.50
R0280:Dscam	UTSW	16	97,039,006 (GRCm38)	missense	possibly damaging	0.62
R0355:Dscam	UTSW	16	96,654,905 (GRCm38)	missense	probably benign	0.00
R0380:Dscam	UTSW	16	97,056,610 (GRCm38)	missense	probably damaging	1.00
R0445:Dscam	UTSW	16	96,772,503 (GRCm38)	missense	probably damaging	1.00
R0492:Dscam	UTSW	16	96,825,782 (GRCm38)	splice site	probably null
R0534:Dscam	UTSW	16	96,652,172 (GRCm38)	missense	possibly damaging	0.67
R0593:Dscam	UTSW	16	96,772,408 (GRCm38)	missense	probably benign	0.19
R0707:Dscam	UTSW	16	96,825,782 (GRCm38)	splice site	probably null
R0738:Dscam	UTSW	16	96,819,781 (GRCm38)	missense	possibly damaging	0.48
R1017:Dscam	UTSW	16	96,833,433 (GRCm38)	missense	probably damaging	1.00
R1377:Dscam	UTSW	16	96,772,494 (GRCm38)	missense	probably damaging	1.00
R1440:Dscam	UTSW	16	96,819,951 (GRCm38)	missense	probably damaging	1.00
R1442:Dscam	UTSW	16	96,608,074 (GRCm38)	missense	possibly damaging	0.94
R1464:Dscam	UTSW	16	96,801,253 (GRCm38)	missense	possibly damaging	0.94
R1464:Dscam	UTSW	16	96,801,253 (GRCm38)	missense	possibly damaging	0.94
R1478:Dscam	UTSW	16	96,790,910 (GRCm38)	missense	probably benign	0.15
R1530:Dscam	UTSW	16	96,819,874 (GRCm38)	missense	probably damaging	1.00
R1731:Dscam	UTSW	16	96,819,876 (GRCm38)	missense	probably damaging	1.00
R1765:Dscam	UTSW	16	96,685,379 (GRCm38)	missense	probably benign	0.00
R1824:Dscam	UTSW	16	96,825,581 (GRCm38)	missense	probably benign	0.00
R1933:Dscam	UTSW	16	96,593,214 (GRCm38)	missense	probably benign	0.00
R2005:Dscam	UTSW	16	97,038,920 (GRCm38)	missense	probably benign	0.02
R2006:Dscam	UTSW	16	96,819,912 (GRCm38)	missense	probably damaging	1.00
R2101:Dscam	UTSW	16	96,610,349 (GRCm38)	missense	probably benign	0.00
R2177:Dscam	UTSW	16	96,610,324 (GRCm38)	missense	probably damaging	0.98
R2342:Dscam	UTSW	16	96,619,502 (GRCm38)	missense	probably damaging	1.00
R2851:Dscam	UTSW	16	96,622,715 (GRCm38)	missense	possibly damaging	0.94
R2929:Dscam	UTSW	16	96,685,412 (GRCm38)	missense	possibly damaging	0.76
R3055:Dscam	UTSW	16	96,801,355 (GRCm38)	missense	probably damaging	1.00
R3157:Dscam	UTSW	16	96,678,510 (GRCm38)	missense	probably benign	0.16
R3159:Dscam	UTSW	16	96,678,510 (GRCm38)	missense	probably benign	0.16
R3944:Dscam	UTSW	16	96,820,997 (GRCm38)	missense	probably damaging	0.99
R4080:Dscam	UTSW	16	96,683,772 (GRCm38)	missense	probably benign	0.01
R4285:Dscam	UTSW	16	96,709,109 (GRCm38)	critical splice donor site	probably null
R4384:Dscam	UTSW	16	96,709,216 (GRCm38)	missense	probably damaging	0.99
R4460:Dscam	UTSW	16	96,610,319 (GRCm38)	missense	probably damaging	1.00
R4575:Dscam	UTSW	16	96,825,623 (GRCm38)	missense	possibly damaging	0.82
R4594:Dscam	UTSW	16	96,717,996 (GRCm38)	missense	possibly damaging	0.78
R4643:Dscam	UTSW	16	96,685,301 (GRCm38)	missense	probably damaging	0.96
R4698:Dscam	UTSW	16	96,610,324 (GRCm38)	missense	probably damaging	1.00
R4716:Dscam	UTSW	16	96,619,571 (GRCm38)	missense	possibly damaging	0.80
R4743:Dscam	UTSW	16	96,830,056 (GRCm38)	missense	probably benign	0.00
R4766:Dscam	UTSW	16	96,643,988 (GRCm38)	missense	probably benign	0.02
R4899:Dscam	UTSW	16	96,683,818 (GRCm38)	missense	probably benign	0.01
R4987:Dscam	UTSW	16	96,697,521 (GRCm38)	missense	probably benign	0.00
R4990:Dscam	UTSW	16	96,825,515 (GRCm38)	missense	probably benign	0.12
R5123:Dscam	UTSW	16	96,772,437 (GRCm38)	missense	probably damaging	1.00
R5130:Dscam	UTSW	16	96,819,779 (GRCm38)	missense	probably benign	0.00
R5328:Dscam	UTSW	16	96,673,678 (GRCm38)	missense	probably benign	0.33
R5666:Dscam	UTSW	16	96,718,164 (GRCm38)	missense	probably benign	0.23
R5670:Dscam	UTSW	16	96,718,164 (GRCm38)	missense	probably benign	0.23
R5678:Dscam	UTSW	16	96,790,900 (GRCm38)	missense	probably benign	0.16
R5827:Dscam	UTSW	16	96,649,991 (GRCm38)	critical splice donor site	probably null
R5907:Dscam	UTSW	16	96,820,920 (GRCm38)	missense	probably damaging	0.97
R6032:Dscam	UTSW	16	96,649,991 (GRCm38)	critical splice donor site	probably null
R6032:Dscam	UTSW	16	96,649,991 (GRCm38)	critical splice donor site	probably null
R6240:Dscam	UTSW	16	96,619,502 (GRCm38)	missense	probably damaging	1.00
R6257:Dscam	UTSW	16	96,673,714 (GRCm38)	missense	possibly damaging	0.94
R6361:Dscam	UTSW	16	96,622,811 (GRCm38)	missense	probably benign	0.08
R6405:Dscam	UTSW	16	96,678,425 (GRCm38)	missense	probably damaging	1.00
R6444:Dscam	UTSW	16	96,619,644 (GRCm38)	missense	probably damaging	1.00
R6560:Dscam	UTSW	16	96,825,735 (GRCm38)	missense	probably benign	0.00
R6598:Dscam	UTSW	16	96,819,784 (GRCm38)	missense	probably damaging	1.00
R6622:Dscam	UTSW	16	96,645,073 (GRCm38)	missense	probably benign	0.06
R6792:Dscam	UTSW	16	96,648,237 (GRCm38)	missense	probably damaging	1.00
R6792:Dscam	UTSW	16	96,593,255 (GRCm38)	missense	probably damaging	0.96
R6827:Dscam	UTSW	16	97,038,991 (GRCm38)	missense	probably damaging	1.00
R6868:Dscam	UTSW	16	96,829,940 (GRCm38)	missense	probably damaging	1.00
R6898:Dscam	UTSW	16	96,829,900 (GRCm38)	missense	probably benign	0.02
R6903:Dscam	UTSW	16	96,820,788 (GRCm38)	missense	probably damaging	1.00
R7051:Dscam	UTSW	16	96,819,786 (GRCm38)	missense	probably benign	0.01
R7146:Dscam	UTSW	16	96,829,917 (GRCm38)	nonsense	probably null
R7180:Dscam	UTSW	16	96,825,564 (GRCm38)	missense	probably damaging	0.97
R7209:Dscam	UTSW	16	96,650,344 (GRCm38)	splice site	probably null
R7247:Dscam	UTSW	16	96,820,808 (GRCm38)	missense	probably damaging	0.99
R7269:Dscam	UTSW	16	96,678,401 (GRCm38)	missense	probably benign	0.00
R7301:Dscam	UTSW	16	97,056,532 (GRCm38)	missense	probably benign	0.01
R7328:Dscam	UTSW	16	96,645,035 (GRCm38)	nonsense	probably null
R7368:Dscam	UTSW	16	96,643,931 (GRCm38)	missense	probably benign	0.00
R7425:Dscam	UTSW	16	96,629,398 (GRCm38)	missense	probably damaging	1.00
R7474:Dscam	UTSW	16	96,819,889 (GRCm38)	missense	possibly damaging	0.88
R7536:Dscam	UTSW	16	96,641,026 (GRCm38)	splice site	probably null
R7624:Dscam	UTSW	16	96,610,324 (GRCm38)	missense	probably damaging	1.00
R7766:Dscam	UTSW	16	96,790,901 (GRCm38)	missense	probably benign	0.31
R7817:Dscam	UTSW	16	96,640,864 (GRCm38)	missense	probably benign
R7843:Dscam	UTSW	16	96,825,630 (GRCm38)	missense	probably damaging	0.99
R7911:Dscam	UTSW	16	96,643,922 (GRCm38)	missense	probably benign	0.01
R8108:Dscam	UTSW	16	96,643,879 (GRCm38)	missense	probably benign	0.01
R8128:Dscam	UTSW	16	96,801,174 (GRCm38)	splice site	probably null
R8770:Dscam	UTSW	16	96,654,906 (GRCm38)	missense	possibly damaging	0.50
R8876:Dscam	UTSW	16	96,619,628 (GRCm38)	missense	probably damaging	0.96
R9005:Dscam	UTSW	16	96,801,380 (GRCm38)	missense	probably damaging	1.00
R9009:Dscam	UTSW	16	97,038,916 (GRCm38)	missense	probably benign	0.10
R9168:Dscam	UTSW	16	96,619,568 (GRCm38)	missense	possibly damaging	0.82
R9176:Dscam	UTSW	16	96,685,353 (GRCm38)	missense	probably benign	0.37
R9244:Dscam	UTSW	16	96,685,229 (GRCm38)	missense	possibly damaging	0.62
R9339:Dscam	UTSW	16	96,716,063 (GRCm38)	missense	possibly damaging	0.89
R9374:Dscam	UTSW	16	97,056,657 (GRCm38)	missense	probably benign	0.19
R9385:Dscam	UTSW	16	97,039,003 (GRCm38)	missense	probably benign
R9674:Dscam	UTSW	16	96,640,836 (GRCm38)	missense	probably benign	0.03
X0025:Dscam	UTSW	16	96,709,161 (GRCm38)	missense	probably damaging	1.00
Z1088:Dscam	UTSW	16	96,772,561 (GRCm38)	missense	probably benign	0.01
Z1177:Dscam	UTSW	16	96,608,189 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGAGTGACTCTGCATGGCTC -3'
(R):5'- TCAACAGTGTCAATACCTTGTGG -3'

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

Posted On

2017-08-16