Mutagenetix > Incidental Mutation

Incidental Mutation 'R7035:Dnase2b'

546588

Institutional Source

Beutler Lab

Gene Symbol

Dnase2b

Ensembl Gene

ENSMUSG00000028185

Gene Name

deoxyribonuclease II beta

Synonyms

Dlad, DnaseIIb

MMRRC Submission

045136-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R7035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146286740-146321351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 146288096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 333 (C333Y)

Ref Sequence

ENSEMBL: ENSMUSP00000142872 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029836] [ENSMUST00000199489] [ENSMUST00000200633]

AlphaFold

Q9QY48

Predicted Effect

probably damaging
Transcript: ENSMUST00000029836
AA Change: C333Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029836
Gene: ENSMUSG00000028185
AA Change: C333Y

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:DNase_II	27	353	1.5e-112	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199489

SMART Domains

Protein: ENSMUSP00000143418
Gene: ENSMUSG00000028186

Domain	Start	End	E-Value	Type
Pfam:Uricase	1	121	8.3e-35	PFAM
Pfam:Uricase	128	228	1.8e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000200633
AA Change: C333Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142872
Gene: ENSMUSG00000028185
AA Change: C333Y

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:DNase_II	26	353	4.5e-117	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares considerable sequence similarity to, and is structurally related to DNase II. The latter is a well characterized endonuclease that catalyzes DNA hydrolysis in the absence of divalent cations at acidic pH. Unlike DNase II which is ubiquitously expressed, expression of this gene product is restricted to the salivary gland and lungs. The gene has been localized to chromosome 1p22.3 adjacent (and in opposite orientation) to the uricase pseudogene. Two transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: The inability of homozygous mutant mice to degrade DNA in differentiating lens cells leads to cataract formation in the nucleus lentis. Consequently, mutant mice exhibit an impaired response to light. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	A	3: 68,777,272 (GRCm39)	F78I	probably benign	Het
1700102P08Rik	A	T	9: 108,272,510 (GRCm39)	D140V	possibly damaging	Het
6430548M08Rik	A	T	8: 120,879,225 (GRCm39)	S208C	probably damaging	Het
Abcd4	G	T	12: 84,662,123 (GRCm39)	T41K	probably damaging	Het
Acaca	C	T	11: 84,129,769 (GRCm39)	R375C	probably damaging	Het
Acad11	T	A	9: 103,990,694 (GRCm39)	V433D	probably damaging	Het
Adal	T	A	2: 120,985,942 (GRCm39)	C226S	probably benign	Het
Aldh3b2	A	T	19: 4,028,142 (GRCm39)	M95L	probably benign	Het
Ano4	A	G	10: 88,790,573 (GRCm39)	F842S	probably damaging	Het
Ap5s1	T	C	2: 131,054,732 (GRCm39)	F181S	probably damaging	Het
Apba1	G	A	19: 23,894,931 (GRCm39)	D456N	possibly damaging	Het
Armh4	T	A	14: 50,010,507 (GRCm39)	H400L	possibly damaging	Het
Atp6v0a1	A	C	11: 100,918,183 (GRCm39)	Q199H	probably damaging	Het
Atp8a1	C	G	5: 67,938,373 (GRCm39)	G161A	probably benign	Het
Atxn2	C	T	5: 121,949,530 (GRCm39)	Q61*	probably null	Het
Cacna2d1	T	A	5: 16,451,670 (GRCm39)	I178K	probably damaging	Het
Catsperb	A	C	12: 101,381,593 (GRCm39)	T92P	probably damaging	Het
Ccdc175	A	G	12: 72,202,419 (GRCm39)	I292T	probably benign	Het
Cep290	T	A	10: 100,334,933 (GRCm39)	S318T	probably benign	Het
Cfb	T	A	17: 35,079,007 (GRCm39)	Y826F	possibly damaging	Het
Cntn1	C	A	15: 92,212,392 (GRCm39)	D851E	probably benign	Het
Coq6	A	G	12: 84,415,415 (GRCm39)	D146G	probably damaging	Het
Crem	G	A	18: 3,327,503 (GRCm39)	T12I	probably damaging	Het
Dennd4c	G	A	4: 86,730,574 (GRCm39)	V824I	probably damaging	Het
Dop1a	T	A	9: 86,406,355 (GRCm39)	F365I	possibly damaging	Het
Dysf	A	T	6: 84,163,374 (GRCm39)	I1570F	probably benign	Het
Eml1	T	A	12: 108,475,493 (GRCm39)	C275S	probably damaging	Het
Fam135b	A	C	15: 71,334,102 (GRCm39)	S1031A	possibly damaging	Het
Gga2	T	C	7: 121,588,939 (GRCm39)	D596G	probably damaging	Het
Gin1	A	C	1: 97,720,100 (GRCm39)	Y365S	possibly damaging	Het
Gipr	T	A	7: 18,896,809 (GRCm39)	I154F	probably damaging	Het
Gm5478	A	T	15: 101,553,632 (GRCm39)	I284N	possibly damaging	Het
Gnat1	A	T	9: 107,553,827 (GRCm39)		probably benign	Het
Gsdmc	A	T	15: 63,650,569 (GRCm39)		probably null	Het
Lama1	T	A	17: 68,088,044 (GRCm39)	I1554N		Het
Mycbp2	T	A	14: 103,412,417 (GRCm39)	T2519S	probably benign	Het
Mylk	G	A	16: 34,797,352 (GRCm39)	V1604M	possibly damaging	Het
Mypop	C	T	7: 18,725,922 (GRCm39)		probably benign	Het
Nol6	A	T	4: 41,118,479 (GRCm39)	V774E	probably benign	Het
Nol8	T	C	13: 49,814,678 (GRCm39)	V262A	probably benign	Het
Npepps	A	T	11: 97,113,965 (GRCm39)	V637D	probably damaging	Het
Or1e16	T	C	11: 73,286,544 (GRCm39)	I101M	probably benign	Het
Or4f52	A	G	2: 111,061,784 (GRCm39)	M118T	probably damaging	Het
Or5p52	T	C	7: 107,502,140 (GRCm39)	V72A	probably benign	Het
Pcdhgb8	A	T	18: 37,896,201 (GRCm39)	I424F	possibly damaging	Het
Phf7	A	C	14: 30,961,183 (GRCm39)	W231G	probably damaging	Het
Plagl1	A	G	10: 13,003,977 (GRCm39)		probably benign	Het
Plat	A	T	8: 23,262,327 (GRCm39)	D117V	probably benign	Het
Prkag2	T	C	5: 25,152,564 (GRCm39)	Y180C	probably damaging	Het
Prpf8	T	C	11: 75,395,654 (GRCm39)	I1927T	possibly damaging	Het
Ptchd1	T	A	X: 154,357,708 (GRCm39)	Y499F	probably damaging	Het
Rad17	T	A	13: 100,764,133 (GRCm39)	D446V	possibly damaging	Het
Ralgapa2	G	T	2: 146,353,777 (GRCm39)	Q15K	probably damaging	Het
Ret	A	G	6: 118,140,247 (GRCm39)	Y982H	probably damaging	Het
Rnf145	T	A	11: 44,452,583 (GRCm39)	S521T	probably damaging	Het
Samd4	G	A	14: 47,326,620 (GRCm39)		silent	Het
Sardh	T	C	2: 27,120,854 (GRCm39)	D390G	probably damaging	Het
Saxo1	T	C	4: 86,363,359 (GRCm39)	T375A	probably damaging	Het
Scly	A	G	1: 91,236,125 (GRCm39)	T126A	probably damaging	Het
Slc6a16	T	A	7: 44,910,251 (GRCm39)	V307D	probably damaging	Het
Sned1	T	C	1: 93,189,852 (GRCm39)	C320R	probably damaging	Het
Sspo	G	A	6: 48,426,147 (GRCm39)		probably null	Het
Sycp2l	C	T	13: 41,310,973 (GRCm39)	T645I	unknown	Het
Tpmt	T	C	13: 47,193,584 (GRCm39)	K72E	probably damaging	Het
Tsbp1	C	T	17: 34,679,305 (GRCm39)		probably benign	Het
Ube2q2l	G	A	6: 136,378,347 (GRCm39)	T161M	possibly damaging	Het
Vmn1r51	A	T	6: 90,106,207 (GRCm39)	H41L	probably benign	Het
Wdfy3	A	T	5: 102,003,415 (GRCm39)	I2900N	probably damaging	Het
Zfp663	A	G	2: 165,195,023 (GRCm39)	S399P	probably benign	Het
Zfp692	T	C	11: 58,200,268 (GRCm39)		probably null	Het

Other mutations in Dnase2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00725:Dnase2b	APN	3	146,302,133 (GRCm39)	missense	probably benign	0.34
IGL01626:Dnase2b	APN	3	146,290,371 (GRCm39)	splice site	probably null
IGL02582:Dnase2b	APN	3	146,294,840 (GRCm39)	missense	probably benign	0.00
IGL02970:Dnase2b	APN	3	146,288,261 (GRCm39)	missense	probably damaging	0.97
R0006:Dnase2b	UTSW	3	146,288,244 (GRCm39)	missense	probably damaging	0.99
R0006:Dnase2b	UTSW	3	146,288,244 (GRCm39)	missense	probably damaging	0.99
R0233:Dnase2b	UTSW	3	146,288,305 (GRCm39)	missense	probably benign	0.01
R0233:Dnase2b	UTSW	3	146,288,305 (GRCm39)	missense	probably benign	0.01
R0539:Dnase2b	UTSW	3	146,294,910 (GRCm39)	splice site	probably benign
R1544:Dnase2b	UTSW	3	146,290,312 (GRCm39)	missense	probably benign	0.03
R2201:Dnase2b	UTSW	3	146,290,443 (GRCm39)	missense	probably damaging	0.99
R3690:Dnase2b	UTSW	3	146,299,326 (GRCm39)	nonsense	probably null
R4921:Dnase2b	UTSW	3	146,299,196 (GRCm39)	missense	probably damaging	1.00
R5318:Dnase2b	UTSW	3	146,288,210 (GRCm39)	missense	probably benign	0.02
R6226:Dnase2b	UTSW	3	146,290,318 (GRCm39)	missense	probably benign
R6593:Dnase2b	UTSW	3	146,292,666 (GRCm39)	missense	probably damaging	1.00
R6781:Dnase2b	UTSW	3	146,288,126 (GRCm39)	missense	probably benign	0.40
R7314:Dnase2b	UTSW	3	146,288,151 (GRCm39)	missense	probably damaging	0.99
R8992:Dnase2b	UTSW	3	146,292,717 (GRCm39)	missense	probably damaging	1.00
R9154:Dnase2b	UTSW	3	146,299,326 (GRCm39)	nonsense	probably null
R9590:Dnase2b	UTSW	3	146,290,323 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGTGCTCACTCAGAAGCCTTG -3'
(R):5'- TTGTTAGCACAAACCTGGCAG -3'

Sequencing Primer
(F):5'- CACTCAGAAGCCTTGAAATTATGGAG -3'
(R):5'- ACAAGAGCTTCCTTCAAACTGTTC -3'

Posted On

2019-05-13