Mutagenetix > Incidental Mutation

Incidental Mutation 'R7599:Daam2'

587941

Institutional Source

Beutler Lab

Gene Symbol

Daam2

Ensembl Gene

ENSMUSG00000040260

Gene Name

dishevelled associated activator of morphogenesis 2

Synonyms

2310016D11Rik

MMRRC Submission

045673-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7599 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49763050-49871371 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 49787755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 453 (K453*)

Ref Sequence

ENSEMBL: ENSMUSP00000052085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057610] [ENSMUST00000224595]

AlphaFold

Q80U19

Predicted Effect

probably null
Transcript: ENSMUST00000057610
AA Change: K453*

SMART Domains

Protein: ENSMUSP00000052085
Gene: ENSMUSG00000040260
AA Change: K453*

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

probably null
Transcript: ENSMUST00000224595
AA Change: K453*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	C	5: 90,009,256 (GRCm39)	S136G	probably benign	Het
Apba3	T	A	10: 81,108,180 (GRCm39)	N445K	probably damaging	Het
Aqp6	A	G	15: 99,501,652 (GRCm39)	K237E	possibly damaging	Het
Arhgap23	A	G	11: 97,391,169 (GRCm39)	T1229A	probably benign	Het
Bpifb1	T	C	2: 154,056,071 (GRCm39)	I379T	probably damaging	Het
Bpnt2	G	A	4: 4,778,207 (GRCm39)	T177I	probably damaging	Het
Ccdc169	A	G	3: 55,047,530 (GRCm39)	D7G	probably damaging	Het
Cyp2f2	T	A	7: 26,830,784 (GRCm39)		probably null	Het
Dennd4c	T	C	4: 86,729,849 (GRCm39)	L817P	probably damaging	Het
Efcab6	T	A	15: 83,755,189 (GRCm39)	R1376W	probably damaging	Het
Esrra	G	T	19: 6,891,214 (GRCm39)	A182E	possibly damaging	Het
Fam234b	T	A	6: 135,203,874 (GRCm39)	V392E	probably damaging	Het
Fanca	A	G	8: 123,997,999 (GRCm39)	V1229A	probably benign	Het
Fdps	G	T	3: 89,006,693 (GRCm39)	Q66K	probably benign	Het
Fer1l6	T	A	15: 58,499,438 (GRCm39)	D1269E	probably benign	Het
Foxred1	G	A	9: 35,116,932 (GRCm39)	R353W	probably damaging	Het
Gabrg2	C	T	11: 41,858,451 (GRCm39)	V226I	possibly damaging	Het
Gcnt2	C	A	13: 41,014,343 (GRCm39)	C171*	probably null	Het
Glyat	C	A	19: 12,617,172 (GRCm39)	A8E	probably damaging	Het
Golgb1	C	A	16: 36,695,758 (GRCm39)	R86S	unknown	Het
Hc	T	A	2: 34,940,431 (GRCm39)	T136S	probably damaging	Het
Hdac1	G	T	4: 129,411,259 (GRCm39)	S421*	probably null	Het
Hmcn2	G	T	2: 31,246,298 (GRCm39)	A756S	possibly damaging	Het
Igkv8-26	A	G	6: 70,170,571 (GRCm39)	N54S	probably benign	Het
Itgae	T	A	11: 73,012,786 (GRCm39)	V706E	possibly damaging	Het
Itgax	G	A	7: 127,747,262 (GRCm39)	V992M	probably damaging	Het
Klk10	A	G	7: 43,433,851 (GRCm39)	D221G	probably benign	Het
Klkb1	T	C	8: 45,731,150 (GRCm39)	I205V	probably benign	Het
Kpna2	T	C	11: 106,889,583 (GRCm39)	N8S	probably null	Het
L3mbtl1	A	C	2: 162,806,434 (GRCm39)	T442P	possibly damaging	Het
Lrp1b	C	T	2: 40,551,561 (GRCm39)	C4181Y		Het
Mcat	T	C	15: 83,431,872 (GRCm39)	Y332C	probably damaging	Het
Mecom	T	C	3: 30,010,534 (GRCm39)	D648G	probably damaging	Het
Mesp2	A	T	7: 79,460,717 (GRCm39)	D14V	probably damaging	Het
Mlh3	A	T	12: 85,314,973 (GRCm39)	Y404*	probably null	Het
Mterf3	A	T	13: 67,065,212 (GRCm39)	F230I	probably damaging	Het
Nrxn3	T	C	12: 89,478,832 (GRCm39)	V602A	probably benign	Het
Or4a74	T	A	2: 89,439,571 (GRCm39)	I292F	possibly damaging	Het
Plekhg6	A	G	6: 125,351,623 (GRCm39)	F209L	probably damaging	Het
Pmp22	C	A	11: 63,049,174 (GRCm39)	A139D	probably damaging	Het
Polr2e	T	C	10: 79,874,404 (GRCm39)	D34G	possibly damaging	Het
Ppard	T	A	17: 28,516,091 (GRCm39)	L105H	probably damaging	Het
Ptpn14	T	A	1: 189,582,942 (GRCm39)	D596E	probably benign	Het
Ptprz1	C	T	6: 23,002,518 (GRCm39)	A1536V	not run	Het
Qng1	T	A	13: 58,529,649 (GRCm39)	H321L	probably damaging	Het
Rabgap1	TGGGG	TGGG	2: 37,392,908 (GRCm39)		probably null	Het
Retreg1	T	A	15: 25,971,727 (GRCm39)	D222E	probably benign	Het
Rmnd1	T	C	10: 4,363,404 (GRCm39)	K282R	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Sall3	C	T	18: 81,015,267 (GRCm39)	R887H	possibly damaging	Het
Samd3	A	G	10: 26,139,711 (GRCm39)	D281G	probably benign	Het
Scube1	T	A	15: 83,497,653 (GRCm39)	D766V	probably damaging	Het
Sec24b	TGC	TGCAGC	3: 129,834,460 (GRCm39)		probably benign	Het
Slc2a2	A	G	3: 28,752,166 (GRCm39)	M1V	probably null	Het
Slc39a2	A	T	14: 52,132,488 (GRCm39)	T144S	probably benign	Het
Slc5a9	T	C	4: 111,734,937 (GRCm39)	H619R	probably benign	Het
Slco4a1	T	C	2: 180,113,048 (GRCm39)	F427L	probably benign	Het
Snapc3	C	A	4: 83,336,073 (GRCm39)	Y28*	probably null	Het
St3gal6	C	T	16: 58,293,800 (GRCm39)	R243H	probably benign	Het
Stat2	T	A	10: 128,113,066 (GRCm39)	N119K	possibly damaging	Het
Syne2	G	C	12: 76,013,145 (GRCm39)	V2779L	probably benign	Het
Tacc1	T	A	8: 25,691,301 (GRCm39)	M1L	probably damaging	Het
Tbc1d32	A	T	10: 56,027,929 (GRCm39)	F724L	possibly damaging	Het
Ttc23l	A	G	15: 10,533,766 (GRCm39)	I259T	possibly damaging	Het
Ucn2	T	C	9: 108,815,292 (GRCm39)	I18T	probably benign	Het
Wdr35	G	C	12: 9,074,886 (GRCm39)	A1000P	probably benign	Het
Wnk1	C	A	6: 119,906,789 (GRCm39)	C244F	possibly damaging	Het
Zeb2	T	G	2: 44,884,625 (GRCm39)	D1022A	probably damaging	Het
Zfp26	A	T	9: 20,349,129 (GRCm39)	H478Q	probably damaging	Het
Zfp410	A	G	12: 84,378,630 (GRCm39)	K265R	probably benign	Het
Zfp575	T	C	7: 24,286,093 (GRCm39)	D21G	probably benign	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
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
V1662:Daam2	UTSW	17	49,771,629 (GRCm39)	missense	possibly damaging	0.85
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'- GGGCCAGTTTGTCCTTCATC -3'
(R):5'- AAGCCAATGCCTGGATAGATC -3'

Sequencing Primer
(F):5'- GTTGAGCGTCCGCATCATC -3'
(R):5'- TCAGAAATCAGGGTCTTCCTCAGG -3'

Posted On

2019-10-24