Mutagenetix > Incidental Mutation

Incidental Mutation 'R8473:Derl2'

657130

Institutional Source

Beutler Lab

Gene Symbol

Derl2

Ensembl Gene

ENSMUSG00000018442

Gene Name

Der1-like domain family, member 2

Synonyms

F-lana, CGI-101, Derlin-2, Flana

MMRRC Submission

067917-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8473 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70898266-70910667 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70910035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 10 (Y10H)

Ref Sequence

ENSEMBL: ENSMUSP00000117052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018586] [ENSMUST00000048807] [ENSMUST00000108523] [ENSMUST00000131340] [ENSMUST00000132198] [ENSMUST00000133413] [ENSMUST00000136137] [ENSMUST00000143762] [ENSMUST00000143850] [ENSMUST00000155236] [ENSMUST00000164220] [ENSMUST00000171041]

AlphaFold

Q8BNI4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018586
AA Change: Y10H

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136261
Gene: ENSMUSG00000018442
AA Change: Y10H

Domain	Start	End	E-Value	Type
Pfam:DER1	13	82	2e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000048807

SMART Domains

Protein: ENSMUSP00000039500
Gene: ENSMUSG00000040599

Domain	Start	End	E-Value	Type
Pfam:Mis12	8	141	4.2e-31	PFAM
coiled coil region	179	206	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108523
AA Change: Y10H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104163
Gene: ENSMUSG00000018442
AA Change: Y10H

Domain	Start	End	E-Value	Type
Pfam:DER1	13	203	5.3e-72	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000131340
AA Change: Y2H

SMART Domains

Protein: ENSMUSP00000135984
Gene: ENSMUSG00000018442
AA Change: Y2H

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000132198
AA Change: Y10H

Predicted Effect

probably benign
Transcript: ENSMUST00000133413

Predicted Effect

probably benign
Transcript: ENSMUST00000136137

Predicted Effect

probably benign
Transcript: ENSMUST00000143762

Predicted Effect

probably damaging
Transcript: ENSMUST00000143850
AA Change: Y10H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117052
Gene: ENSMUSG00000018442
AA Change: Y10H

Domain	Start	End	E-Value	Type
Pfam:DER1	13	203	7.8e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155236

Predicted Effect

probably benign
Transcript: ENSMUST00000164220

SMART Domains

Protein: ENSMUSP00000127782
Gene: ENSMUSG00000040599

Domain	Start	End	E-Value	Type
Pfam:Mis12	8	156	2.5e-47	PFAM
coiled coil region	179	206	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171041

SMART Domains

Protein: ENSMUSP00000127568
Gene: ENSMUSG00000018442

Domain	Start	End	E-Value	Type
Pfam:DER1	1	129	4.2e-46	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (33/33)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins that are unfolded or misfolded in the endoplasmic reticulum (ER) must be refolded or degraded to maintain the homeostasis of the ER. DERL2 is involved in the degradation of misfolded glycoproteins in the ER (Oda et al., 2006 [PubMed 16449189]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal lethality with surviving mice exhibiting male sterility, inverted rib cage, abnormal chondrocytes in the ribs, lethality during pregancy, cachexia, and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930583I09Rik	T	C	17: 65,141,513 (GRCm39)	D30G	unknown	Het
Acad12	T	C	5: 121,745,538 (GRCm39)	D251G	probably damaging	Het
Adamts15	T	A	9: 30,816,085 (GRCm39)	T625S	probably damaging	Het
Atg13	A	T	2: 91,518,993 (GRCm39)	L151M	probably damaging	Het
Atp5f1a	T	C	18: 77,867,625 (GRCm39)	F250L	probably damaging	Het
Blnk	T	C	19: 40,940,854 (GRCm39)	E183G	possibly damaging	Het
Csf3	T	C	11: 98,592,928 (GRCm39)	L97P	probably damaging	Het
Dgkb	A	G	12: 38,234,939 (GRCm39)	N435D	probably damaging	Het
Dpy19l2	C	A	9: 24,492,526 (GRCm39)	V691L	probably benign	Het
Exoc5	T	C	14: 49,256,860 (GRCm39)	S509G	probably null	Het
Fancg	A	G	4: 43,004,963 (GRCm39)	I410T	probably damaging	Het
Fsip2	G	A	2: 82,777,336 (GRCm39)	G121D	probably damaging	Het
Gfm1	T	C	3: 67,361,051 (GRCm39)	S458P	possibly damaging	Het
Gm6882	A	T	7: 21,161,440 (GRCm39)	Y143N	probably damaging	Het
Grm5	T	A	7: 87,252,278 (GRCm39)	M176K	probably damaging	Het
Herc6	T	A	6: 57,624,099 (GRCm39)	V623D	probably damaging	Het
Hmcn1	G	T	1: 150,479,551 (GRCm39)	P4638T	possibly damaging	Het
Il27ra	A	G	8: 84,768,735 (GRCm39)	Y62H	probably benign	Het
Kcnh8	A	T	17: 53,285,320 (GRCm39)	S1097C	probably benign	Het
Kif19a	T	G	11: 114,678,377 (GRCm39)	S677A	probably damaging	Het
Lrrc37	T	C	11: 103,434,266 (GRCm39)	T792A	unknown	Het
Or8d4	T	C	9: 40,038,506 (GRCm39)	I250M	probably benign	Het
Pcdhgb7	T	A	18: 37,886,852 (GRCm39)	V674D	probably benign	Het
Pik3r6	A	G	11: 68,417,207 (GRCm39)	S50G	probably benign	Het
Ptpn12	T	C	5: 21,203,357 (GRCm39)	T474A	probably benign	Het
Rbbp6	T	C	7: 122,600,421 (GRCm39)		probably benign	Het
Scaper	T	C	9: 55,458,131 (GRCm39)	Y880C	probably damaging	Het
Smc5	A	T	19: 23,221,446 (GRCm39)	V361D	probably benign	Het
Stag1	T	A	9: 100,762,840 (GRCm39)	H480Q	probably damaging	Het
Tdpoz2	T	C	3: 93,559,153 (GRCm39)	E273G	probably damaging	Het
Tdpoz3	T	A	3: 93,733,870 (GRCm39)	W182R	possibly damaging	Het
Tmx4	T	C	2: 134,451,444 (GRCm39)	T170A	probably benign	Het
Vmn1r59	A	T	7: 5,457,064 (GRCm39)	M232K	possibly damaging	Het
Wdr20rt	A	G	12: 65,273,380 (GRCm39)	D180G	probably damaging	Het

Other mutations in Derl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00803:Derl2	APN	11	70,904,280 (GRCm39)	missense	probably benign	0.31
IGL01338:Derl2	APN	11	70,901,181 (GRCm39)	missense	possibly damaging	0.61
IGL02727:Derl2	APN	11	70,904,036 (GRCm39)	splice site	probably benign
R0394:Derl2	UTSW	11	70,905,387 (GRCm39)	missense	probably benign
R0751:Derl2	UTSW	11	70,905,373 (GRCm39)	splice site	probably null
R1507:Derl2	UTSW	11	70,898,171 (GRCm39)	missense	probably benign
R1860:Derl2	UTSW	11	70,909,169 (GRCm39)	missense	probably damaging	1.00
R5138:Derl2	UTSW	11	70,905,390 (GRCm39)	nonsense	probably null
R5207:Derl2	UTSW	11	70,910,073 (GRCm39)	splice site	probably null
R5965:Derl2	UTSW	11	70,905,378 (GRCm39)	missense	probably benign	0.00
R7385:Derl2	UTSW	11	70,909,764 (GRCm39)	intron	probably benign
R9176:Derl2	UTSW	11	70,904,376 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TAGAGTCAGCTCCGGATGTC -3'
(R):5'- CAGAGGCGCAACTCTTGATTG -3'

Sequencing Primer
(F):5'- AGCTCCGGATGTCTCCAC -3'
(R):5'- CGCAACTCTTGATTGGTGGG -3'

Posted On

2021-01-18