Mutagenetix > Incidental Mutation

Incidental Mutation 'R4766:Dscam'

366185

Institutional Source

Beutler Lab

Gene Symbol

Dscam

Ensembl Gene

ENSMUSG00000050272

Gene Name

DS cell adhesion molecule

Synonyms

4932410A21Rik

MMRRC Submission

042407-MU

Accession Numbers

Genbank: NM_031174; MGI: 1196281

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4766 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96592079-97170752 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96643988 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1501 (D1501G)

Ref Sequence

ENSEMBL: ENSMUSP00000056040 (fasta)

Gene Model

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

AlphaFold

Q9ERC8

Predicted Effect

probably benign
Transcript: ENSMUST00000056102
AA Change: D1501G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272
AA Change: D1501G

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

0.2267

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

97% (87/90)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	T	5: 113,097,636	V1584I	probably benign	Het
A430105I19Rik	C	A	2: 118,759,577	R262L	probably damaging	Het
Adamts12	A	G	15: 11,285,901	D732G	probably benign	Het
Agpat4	A	G	17: 12,151,750		probably benign	Het
AI182371	T	C	2: 35,095,817	D140G	possibly damaging	Het
Apol11b	T	A	15: 77,634,933	T316S	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bard1	T	C	1: 71,075,174	E216G	probably benign	Het
Bdp1	C	A	13: 100,049,868	R1692L	probably damaging	Het
Capn10	T	C	1: 92,943,419	I101T	probably damaging	Het
Ccdc175	C	T	12: 72,112,205	M653I	probably benign	Het
Ccr8	G	A	9: 120,094,464	C215Y	probably damaging	Het
Cct3	T	A	3: 88,311,785	L241*	probably null	Het
Cd2ap	A	T	17: 42,852,459	I25N	probably damaging	Het
Cdh19	T	C	1: 110,893,260	K583E	probably benign	Het
Cela3a	A	G	4: 137,402,675	S212P	unknown	Het
Cfap44	T	A	16: 44,415,883		probably null	Het
Clca3a1	A	T	3: 144,749,712	L440Q	probably damaging	Het
Crybg2	A	G	4: 134,089,352	Y1676C	probably damaging	Het
Eml6	C	A	11: 29,805,757	L832F	probably benign	Het
Enpp3	A	G	10: 24,773,927	L867P	probably damaging	Het
Erbb3	A	G	10: 128,586,238	Y46H	possibly damaging	Het
Fads3	T	C	19: 10,056,020	I342T	possibly damaging	Het
Flvcr1	A	T	1: 191,021,106	S290T	probably benign	Het
Fut9	A	G	4: 25,799,191		probably benign	Het
Gad2	C	T	2: 22,622,667	A2V	probably damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm10715	T	G	9: 3,038,073		probably benign	Het
Herc1	T	G	9: 66,441,929	D2023E	probably benign	Het
Hsd3b3	A	G	3: 98,742,485	L174P	probably damaging	Het
Impg2	TACCACCACCACCACCACCACCACCA	TACCACCACCACCACCACCACCA	16: 56,257,939		probably benign	Het
Iqcf3	A	G	9: 106,560,949		probably null	Het
Kcna4	G	A	2: 107,296,543	V541M	probably damaging	Het
Kcnj11	T	C	7: 46,099,816	T28A	probably benign	Het
Kcnmb2	T	A	3: 32,181,867	N88K	probably damaging	Het
Kdm2a	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCTTCCTCCTCCTC	19: 4,324,507		probably benign	Het
Krt2	T	C	15: 101,813,960	E430G	probably damaging	Het
Lins1	C	T	7: 66,710,641	L384F	possibly damaging	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Mfge8	T	C	7: 79,134,525	N389D	probably damaging	Het
Mug1	C	T	6: 121,884,254	T1278I	probably benign	Het
Myh9	T	C	15: 77,807,877	M161V	probably damaging	Het
Myl7	T	A	11: 5,898,171	Y61F	probably benign	Het
Nlrp4d	A	T	7: 10,362,779		unknown	Het
Nol3	A	G	8: 105,281,933		probably null	Het
Nup85	T	A	11: 115,577,925		probably null	Het
Obscn	T	A	11: 59,012,742	T7619S	probably damaging	Het
Olfr1298	T	C	2: 111,645,881	M39V	probably benign	Het
Olfr331	T	A	11: 58,501,668	N296I	probably damaging	Het
Olfr628	C	T	7: 103,732,250	T108I	possibly damaging	Het
Olfr844	G	A	9: 19,318,845	V104I	probably benign	Het
Pax5	T	A	4: 44,679,494	I184F	probably damaging	Het
Pcdha7	T	A	18: 36,974,507	V195D	probably damaging	Het
Phf3	A	T	1: 30,813,939		probably benign	Het
Pla2g15	G	T	8: 106,163,071	G325V	probably damaging	Het
Ppp1r21	T	C	17: 88,572,615	F487L	probably benign	Het
Ppp1r9a	A	G	6: 5,157,016	I965V	probably benign	Het
Ptpru	A	G	4: 131,820,964	V74A	probably damaging	Het
Rif1	T	A	2: 52,098,934	Y780N	probably damaging	Het
Rps25	T	A	9: 44,408,749	Y23N	possibly damaging	Het
Ryr1	T	C	7: 29,085,833	D1811G	probably damaging	Het
Scamp5	T	G	9: 57,452,036		probably null	Het
Senp1	T	C	15: 98,045,896	D602G	probably damaging	Het
Sh2b2	T	G	5: 136,231,957	D135A	probably damaging	Het
Slc26a8	G	A	17: 28,638,661	T836M	probably benign	Het
Slfn4	T	G	11: 83,186,821	I145S	possibly damaging	Het
Spag6l	G	A	16: 16,777,390	T377I	probably benign	Het
Spdye4b	T	C	5: 143,196,334	F129S	probably damaging	Het
Sspo	G	A	6: 48,470,580	G2360E	probably benign	Het
Taar2	A	T	10: 23,940,771	I70F	probably damaging	Het
Taar7e	A	G	10: 24,038,566	N318S	probably damaging	Het
Tor1a	C	A	2: 30,967,730	R42L	probably benign	Het
Trdn	A	T	10: 33,474,506	Q690H	probably benign	Het
Trim56	C	A	5: 137,112,725	V646L	probably benign	Het
Tspan15	T	A	10: 62,191,544	K165I	probably benign	Het
Usp24	A	G	4: 106,416,048	Y2210C	probably damaging	Het
Usp45	A	G	4: 21,797,307	T76A	probably damaging	Het
Vps13c	T	A	9: 67,878,224		probably null	Het
Zfp512b	T	C	2: 181,585,095		probably benign	Het
Zyx	C	A	6: 42,356,159		probably null	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
R1824:Dscam	UTSW	16	96825581	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
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'- GAAGTTGGCTTGCTTCTCCG -3'
(R):5'- CAAGGCTTTGTTCCTGCTG -3'

Sequencing Primer
(F):5'- GGCTTGCTTCTCCGCACAG -3'
(R):5'- TGGTGATCCAGCCTGGG -3'

Posted On

2015-12-21