Mutagenetix > Incidental Mutations

Incidental Mutation 'V1662:Daam2'

63504

Institutional Source

Beutler Lab

Gene Symbol

Daam2

Ensembl Gene

ENSMUSG00000040260

Gene Name

dishevelled associated activator of morphogenesis 2

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

V1662 () of strain 633

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

49456022-49564343 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49464601 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 839 (L839P)

Ref Sequence

ENSEMBL: ENSMUSP00000052085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057610]

AlphaFold

Q80U19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057610
AA Change: L839P

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052085
Gene: ENSMUSG00000040260
AA Change: L839P

Domain	Start	End	E-Value	Type
Drf_GBD	40	228	4.89e-61	SMART
Drf_FH3	231	429	1.19e-73	SMART
Blast:FH2	476	513	4e-10	BLAST
low complexity region	514	534	N/A	INTRINSIC
low complexity region	539	576	N/A	INTRINSIC
FH2	595	1085	7.36e-99	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224954

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous KO in combination with homozygous Daam1 conditional KO increases the severity of the heart phenotype (abnormal ventricular morphology and pressure) of the Daam1 single KO. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	G	C	5: 114,238,708	G1951R	probably damaging	Het
Adamts12	T	A	15: 11,071,808	L146Q	probably benign	Het
Adgra1	T	C	7: 139,852,579	I111T	probably damaging	Het
Amph	G	A	13: 19,139,370	V601M	probably benign	Het
Arfgef1	T	C	1: 10,173,253	K1024E	probably damaging	Het
Arhgef2	G	A	3: 88,633,329	R154Q	probably damaging	Het
Bank1	T	A	3: 136,054,418	D782V	probably damaging	Het
Bhlha9	G	T	11: 76,673,036	R163L	probably benign	Het
Cacna1h	T	C	17: 25,377,309	N1913D	possibly damaging	Het
Cd7	T	C	11: 121,037,126	I184V	probably benign	Het
Cdk2ap1	T	A	5: 124,348,676	I68F	possibly damaging	Het
Cfap44	C	A	16: 44,449,138	Y1168*	probably null	Het
D6Ertd527e	T	C	6: 87,111,892	S346P	unknown	Het
Fam198a	A	G	9: 121,965,025	R82G	probably damaging	Het
Gm7030	A	G	17: 36,128,931	Y104H	probably benign	Het
Golgb1	A	G	16: 36,898,542	H270R	probably benign	Het
Itgav	C	T	2: 83,783,854	R519W	possibly damaging	Het
Lrp1b	A	T	2: 41,122,932	I2001K	probably damaging	Het
Lrrc40	T	A	3: 158,052,789	I277K	probably damaging	Het
Olfr1025-ps1	C	A	2: 85,918,594	T223K	probably benign	Het
Olfr1350	A	T	7: 6,570,819	Y276F	probably damaging	Het
Olfr1373	T	C	11: 52,145,177	M118V	probably damaging	Het
Olfr524	C	T	7: 140,201,958	D271N	possibly damaging	Het
Pyroxd1	G	A	6: 142,358,443	G307S	probably damaging	Het
Rp1	T	A	1: 4,349,560	Y443F	probably damaging	Het
Rpusd4	C	A	9: 35,272,761	S237R	probably benign	Het
Sdk2	A	C	11: 113,834,908	W1172G	probably damaging	Het
Utrn	A	G	10: 12,421,640	Y675H	probably damaging	Het
Vmn1r193	A	G	13: 22,219,075	I249T	possibly damaging	Het

Other mutations in Daam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02150:Daam2	APN	17	49490304	missense	possibly damaging	0.82
IGL02373:Daam2	APN	17	49473380	missense	probably damaging	1.00
IGL02626:Daam2	APN	17	49490254	missense	possibly damaging	0.46
IGL02793:Daam2	APN	17	49464028	missense	probably damaging	1.00
IGL02861:Daam2	APN	17	49469427	missense	probably damaging	1.00
IGL02875:Daam2	APN	17	49464028	missense	probably damaging	1.00
IGL03370:Daam2	APN	17	49486501	missense	probably benign	0.19
R0145:Daam2	UTSW	17	49480778	missense	probably benign
R0310:Daam2	UTSW	17	49463924	critical splice donor site	probably null
R0362:Daam2	UTSW	17	49480785	splice site	probably null
R0423:Daam2	UTSW	17	49469421	nonsense	probably null
R0883:Daam2	UTSW	17	49498883	utr 5 prime	probably benign
R0928:Daam2	UTSW	17	49488227	missense	probably benign	0.30
R1444:Daam2	UTSW	17	49480751	missense	possibly damaging	0.89
R1559:Daam2	UTSW	17	49496120	splice site	probably benign
R1733:Daam2	UTSW	17	49490203	missense	possibly damaging	0.60
R1919:Daam2	UTSW	17	49485457	missense	probably benign	0.00
R1930:Daam2	UTSW	17	49462213	splice site	probably null
R1968:Daam2	UTSW	17	49483060	missense	probably damaging	1.00
R2520:Daam2	UTSW	17	49480757	nonsense	probably null
R3004:Daam2	UTSW	17	49460654	missense	probably damaging	0.98
R3726:Daam2	UTSW	17	49469738	missense	probably damaging	1.00
R3854:Daam2	UTSW	17	49458596	missense	probably benign
R4833:Daam2	UTSW	17	49490145	missense	possibly damaging	0.91
R4878:Daam2	UTSW	17	49460710	missense	probably damaging	1.00
R5015:Daam2	UTSW	17	49476522	missense	probably damaging	1.00
R5106:Daam2	UTSW	17	49476461	missense	probably damaging	1.00
R5184:Daam2	UTSW	17	49494391	missense	possibly damaging	0.50
R5419:Daam2	UTSW	17	49480754	missense	possibly damaging	0.95
R5529:Daam2	UTSW	17	49459057	missense	probably benign
R5974:Daam2	UTSW	17	49464473	missense	probably damaging	1.00
R5979:Daam2	UTSW	17	49459204	missense	possibly damaging	0.47
R6032:Daam2	UTSW	17	49486497	missense	probably damaging	1.00
R6032:Daam2	UTSW	17	49486497	missense	probably damaging	1.00
R6050:Daam2	UTSW	17	49486502	missense	possibly damaging	0.78
R6180:Daam2	UTSW	17	49469666	missense	probably damaging	0.99
R6225:Daam2	UTSW	17	49494439	missense	probably damaging	0.98
R6385:Daam2	UTSW	17	49463936	missense	probably damaging	1.00
R6426:Daam2	UTSW	17	49469376	missense	probably damaging	1.00
R6427:Daam2	UTSW	17	49469376	missense	probably damaging	1.00
R6428:Daam2	UTSW	17	49469376	missense	probably damaging	1.00
R6539:Daam2	UTSW	17	49469711	missense	probably damaging	1.00
R7090:Daam2	UTSW	17	49482945	missense	probably damaging	0.99
R7108:Daam2	UTSW	17	49460674	missense	probably damaging	1.00
R7487:Daam2	UTSW	17	49486482	missense	probably benign	0.03
R7599:Daam2	UTSW	17	49480727	nonsense	probably null
R7763:Daam2	UTSW	17	49490022	missense	probably benign	0.04
R8039:Daam2	UTSW	17	49464538	missense	probably damaging	1.00
R8700:Daam2	UTSW	17	49496152	missense	probably damaging	1.00
R9000:Daam2	UTSW	17	49462169	missense	probably damaging	1.00
R9286:Daam2	UTSW	17	49479894	missense	possibly damaging	0.63
Z1177:Daam2	UTSW	17	49464620	missense	probably damaging	1.00
Z1177:Daam2	UTSW	17	49489016	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGAGGAAGTTCATTGGTCCCCAC -3'
(R):5'- TCTGAGCACAGATGCTGCTGTC -3'

Sequencing Primer
(F):5'- ACCTGTCAATGCTGGACTTG -3'
(R):5'- cccttagattgtcctctgacc -3'

Posted On

2013-07-30