Mutagenetix > Incidental Mutation

Incidental Mutation 'V1662:Daam2'

63504

Institutional Source

Beutler Lab

Gene Symbol

Daam2

Ensembl Gene

ENSMUSG00000040260

Gene Name

dishevelled associated activator of morphogenesis 2

Synonyms

2310016D11Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

V1662 () of strain 633

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

49763050-49871371 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49771629 bp (GRCm39)

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: 114,376,769 (GRCm39)	G1951R	probably damaging	Het
Adamts12	T	A	15: 11,071,894 (GRCm39)	L146Q	probably benign	Het
Adgra1	T	C	7: 139,432,495 (GRCm39)	I111T	probably damaging	Het
Amph	G	A	13: 19,323,540 (GRCm39)	V601M	probably benign	Het
Arfgef1	T	C	1: 10,243,478 (GRCm39)	K1024E	probably damaging	Het
Arhgef2	G	A	3: 88,540,636 (GRCm39)	R154Q	probably damaging	Het
Bank1	T	A	3: 135,760,179 (GRCm39)	D782V	probably damaging	Het
Bhlha9	G	T	11: 76,563,862 (GRCm39)	R163L	probably benign	Het
Cacna1h	T	C	17: 25,596,283 (GRCm39)	N1913D	possibly damaging	Het
Cd7	T	C	11: 120,927,952 (GRCm39)	I184V	probably benign	Het
Cdk2ap1	T	A	5: 124,486,739 (GRCm39)	I68F	possibly damaging	Het
Cfap44	C	A	16: 44,269,501 (GRCm39)	Y1168*	probably null	Het
D6Ertd527e	T	C	6: 87,088,874 (GRCm39)	S346P	unknown	Het
Gask1a	A	G	9: 121,794,091 (GRCm39)	R82G	probably damaging	Het
Golgb1	A	G	16: 36,718,904 (GRCm39)	H270R	probably benign	Het
H2-T9	A	G	17: 36,439,823 (GRCm39)	Y104H	probably benign	Het
Itgav	C	T	2: 83,614,198 (GRCm39)	R519W	possibly damaging	Het
Lrp1b	A	T	2: 41,012,944 (GRCm39)	I2001K	probably damaging	Het
Lrrc40	T	A	3: 157,758,426 (GRCm39)	I277K	probably damaging	Het
Or2y8	T	C	11: 52,036,004 (GRCm39)	M118V	probably damaging	Het
Or5bw2	A	T	7: 6,573,818 (GRCm39)	Y276F	probably damaging	Het
Or5m13	C	A	2: 85,748,938 (GRCm39)	T223K	probably benign	Het
Or6b13	C	T	7: 139,781,871 (GRCm39)	D271N	possibly damaging	Het
Pyroxd1	G	A	6: 142,304,169 (GRCm39)	G307S	probably damaging	Het
Rp1	T	A	1: 4,419,783 (GRCm39)	Y443F	probably damaging	Het
Rpusd4	C	A	9: 35,184,057 (GRCm39)	S237R	probably benign	Het
Sdk2	A	C	11: 113,725,734 (GRCm39)	W1172G	probably damaging	Het
Utrn	A	G	10: 12,297,384 (GRCm39)	Y675H	probably damaging	Het
Vmn1r193	A	G	13: 22,403,245 (GRCm39)	I249T	possibly damaging	Het

Other mutations in Daam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02150:Daam2	APN	17	49,797,332 (GRCm39)	missense	possibly damaging	0.82
IGL02373:Daam2	APN	17	49,780,408 (GRCm39)	missense	probably damaging	1.00
IGL02626:Daam2	APN	17	49,797,282 (GRCm39)	missense	possibly damaging	0.46
IGL02793:Daam2	APN	17	49,771,056 (GRCm39)	missense	probably damaging	1.00
IGL02861:Daam2	APN	17	49,776,455 (GRCm39)	missense	probably damaging	1.00
IGL02875:Daam2	APN	17	49,771,056 (GRCm39)	missense	probably damaging	1.00
IGL03370:Daam2	APN	17	49,793,529 (GRCm39)	missense	probably benign	0.19
R0145:Daam2	UTSW	17	49,787,806 (GRCm39)	missense	probably benign
R0310:Daam2	UTSW	17	49,770,952 (GRCm39)	critical splice donor site	probably null
R0362:Daam2	UTSW	17	49,787,813 (GRCm39)	splice site	probably null
R0423:Daam2	UTSW	17	49,776,449 (GRCm39)	nonsense	probably null
R0883:Daam2	UTSW	17	49,805,911 (GRCm39)	utr 5 prime	probably benign
R0928:Daam2	UTSW	17	49,795,255 (GRCm39)	missense	probably benign	0.30
R1444:Daam2	UTSW	17	49,787,779 (GRCm39)	missense	possibly damaging	0.89
R1559:Daam2	UTSW	17	49,803,148 (GRCm39)	splice site	probably benign
R1733:Daam2	UTSW	17	49,797,231 (GRCm39)	missense	possibly damaging	0.60
R1919:Daam2	UTSW	17	49,792,485 (GRCm39)	missense	probably benign	0.00
R1930:Daam2	UTSW	17	49,769,241 (GRCm39)	splice site	probably null
R1968:Daam2	UTSW	17	49,790,088 (GRCm39)	missense	probably damaging	1.00
R2520:Daam2	UTSW	17	49,787,785 (GRCm39)	nonsense	probably null
R3004:Daam2	UTSW	17	49,767,682 (GRCm39)	missense	probably damaging	0.98
R3726:Daam2	UTSW	17	49,776,766 (GRCm39)	missense	probably damaging	1.00
R3854:Daam2	UTSW	17	49,765,624 (GRCm39)	missense	probably benign
R4833:Daam2	UTSW	17	49,797,173 (GRCm39)	missense	possibly damaging	0.91
R4878:Daam2	UTSW	17	49,767,738 (GRCm39)	missense	probably damaging	1.00
R5015:Daam2	UTSW	17	49,783,550 (GRCm39)	missense	probably damaging	1.00
R5106:Daam2	UTSW	17	49,783,489 (GRCm39)	missense	probably damaging	1.00
R5184:Daam2	UTSW	17	49,801,419 (GRCm39)	missense	possibly damaging	0.50
R5419:Daam2	UTSW	17	49,787,782 (GRCm39)	missense	possibly damaging	0.95
R5529:Daam2	UTSW	17	49,766,085 (GRCm39)	missense	probably benign
R5974:Daam2	UTSW	17	49,771,501 (GRCm39)	missense	probably damaging	1.00
R5979:Daam2	UTSW	17	49,766,232 (GRCm39)	missense	possibly damaging	0.47
R6032:Daam2	UTSW	17	49,793,525 (GRCm39)	missense	probably damaging	1.00
R6032:Daam2	UTSW	17	49,793,525 (GRCm39)	missense	probably damaging	1.00
R6050:Daam2	UTSW	17	49,793,530 (GRCm39)	missense	possibly damaging	0.78
R6180:Daam2	UTSW	17	49,776,694 (GRCm39)	missense	probably damaging	0.99
R6225:Daam2	UTSW	17	49,801,467 (GRCm39)	missense	probably damaging	0.98
R6385:Daam2	UTSW	17	49,770,964 (GRCm39)	missense	probably damaging	1.00
R6426:Daam2	UTSW	17	49,776,404 (GRCm39)	missense	probably damaging	1.00
R6427:Daam2	UTSW	17	49,776,404 (GRCm39)	missense	probably damaging	1.00
R6428:Daam2	UTSW	17	49,776,404 (GRCm39)	missense	probably damaging	1.00
R6539:Daam2	UTSW	17	49,776,739 (GRCm39)	missense	probably damaging	1.00
R7090:Daam2	UTSW	17	49,789,973 (GRCm39)	missense	probably damaging	0.99
R7108:Daam2	UTSW	17	49,767,702 (GRCm39)	missense	probably damaging	1.00
R7487:Daam2	UTSW	17	49,793,510 (GRCm39)	missense	probably benign	0.03
R7599:Daam2	UTSW	17	49,787,755 (GRCm39)	nonsense	probably null
R7763:Daam2	UTSW	17	49,797,050 (GRCm39)	missense	probably benign	0.04
R8039:Daam2	UTSW	17	49,771,566 (GRCm39)	missense	probably damaging	1.00
R8700:Daam2	UTSW	17	49,803,180 (GRCm39)	missense	probably damaging	1.00
R9000:Daam2	UTSW	17	49,769,197 (GRCm39)	missense	probably damaging	1.00
R9286:Daam2	UTSW	17	49,786,922 (GRCm39)	missense	possibly damaging	0.63
R9508:Daam2	UTSW	17	49,765,618 (GRCm39)	missense	probably damaging	1.00
R9621:Daam2	UTSW	17	49,780,332 (GRCm39)	missense	probably damaging	1.00
Z1177:Daam2	UTSW	17	49,796,044 (GRCm39)	missense	probably damaging	1.00
Z1177:Daam2	UTSW	17	49,771,648 (GRCm39)	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