Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03075:Rell2'

417666

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rell2

Ensembl Gene

ENSMUSG00000044024

Gene Name

RELT-like 2

Synonyms

4631403P03Rik, ependolin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

IGL03075

Quality Score

Status

Chromosome

Chromosomal Location

38088132-38092232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38090734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 137 (R137L)

Ref Sequence

ENSEMBL: ENSMUSP00000089552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043437] [ENSMUST00000043498] [ENSMUST00000070709] [ENSMUST00000091932] [ENSMUST00000163128] [ENSMUST00000163591] [ENSMUST00000168056] [ENSMUST00000176902] [ENSMUST00000169498] [ENSMUST00000176104] [ENSMUST00000177058] [ENSMUST00000169360]

AlphaFold

Q8BRJ3

Predicted Effect

probably benign
Transcript: ENSMUST00000043437

SMART Domains

Protein: ENSMUSP00000047878
Gene: ENSMUSG00000038524

Domain	Start	End	E-Value	Type
Pfam:FCH	21	100	1.6e-19	PFAM
coiled coil region	188	209	N/A	INTRINSIC
low complexity region	346	357	N/A	INTRINSIC
SH3	469	526	1.34e-8	SMART
SH3	547	606	1.94e-14	SMART
low complexity region	622	634	N/A	INTRINSIC
low complexity region	657	686	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000043498

SMART Domains

Protein: ENSMUSP00000037981
Gene: ENSMUSG00000024454

Domain	Start	End	E-Value	Type
Pfam:Hist_deacetyl	11	315	1.2e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000070709
AA Change: R137L

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000070280
Gene: ENSMUSG00000044024
AA Change: R137L

Domain	Start	End	E-Value	Type
Pfam:RELT	16	64	1.2e-22	PFAM
low complexity region	194	212	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000091932
AA Change: R137L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000089552
Gene: ENSMUSG00000044024
AA Change: R137L

Domain	Start	End	E-Value	Type
Pfam:RELT	16	64	8.3e-23	PFAM
low complexity region	194	212	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153945

Predicted Effect

probably benign
Transcript: ENSMUST00000163128

SMART Domains

Protein: ENSMUSP00000127234
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
Pfam:RELT	16	64	5.2e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163591
AA Change: R46L

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129299
Gene: ENSMUSG00000044024
AA Change: R46L

Domain	Start	End	E-Value	Type
low complexity region	103	121	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000168056
AA Change: A115S

SMART Domains

Protein: ENSMUSP00000130051
Gene: ENSMUSG00000044024
AA Change: A115S

Domain	Start	End	E-Value	Type
Pfam:RELT	16	64	1.9e-23	PFAM
low complexity region	104	116	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176902
AA Change: R46L

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000135176
Gene: ENSMUSG00000044024
AA Change: R46L

Domain	Start	End	E-Value	Type
low complexity region	103	121	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169498
AA Change: R46L

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000128949
Gene: ENSMUSG00000044024
AA Change: R46L

Domain	Start	End	E-Value	Type
low complexity region	103	121	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176104
AA Change: R137L

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000135556
Gene: ENSMUSG00000044024
AA Change: R137L

Domain	Start	End	E-Value	Type
Pfam:RELT	16	60	3.3e-22	PFAM
low complexity region	194	212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177058
AA Change: R137L

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000135615
Gene: ENSMUSG00000044024
AA Change: R137L

Domain	Start	End	E-Value	Type
Pfam:RELT	16	64	1.2e-22	PFAM
low complexity region	194	212	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165643

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164499

Predicted Effect

probably benign
Transcript: ENSMUST00000169360

SMART Domains

Protein: ENSMUSP00000129880
Gene: ENSMUSG00000044024

Domain	Start	End	E-Value	Type
Pfam:RELT	16	64	4.6e-23	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	G	A	13: 4,322,254 (GRCm39)	R263C	probably damaging	Het
Axdnd1	A	T	1: 156,223,012 (GRCm39)	S217T	probably damaging	Het
Crtc3	G	A	7: 80,254,151 (GRCm39)		probably benign	Het
Ctnna2	A	T	6: 76,931,713 (GRCm39)	M642K	probably benign	Het
Ddx56	A	T	11: 6,211,632 (GRCm39)	H491Q	probably benign	Het
Dvl1	A	G	4: 155,939,040 (GRCm39)	E208G	probably damaging	Het
Fam135a	A	G	1: 24,069,987 (GRCm39)		probably benign	Het
Gabpa	T	A	16: 84,649,495 (GRCm39)	V234D	possibly damaging	Het
Gjb4	A	G	4: 127,245,386 (GRCm39)	V185A	possibly damaging	Het
Hlcs	C	T	16: 93,939,706 (GRCm39)	A149T	probably damaging	Het
Il1f10	T	A	2: 24,183,188 (GRCm39)	I44N	possibly damaging	Het
Itih4	A	G	14: 30,614,240 (GRCm39)	I397V	probably benign	Het
Kat6b	C	T	14: 21,711,638 (GRCm39)	R820*	probably null	Het
Mmp17	T	C	5: 129,672,138 (GRCm39)	L137P	probably damaging	Het
Myh2	A	G	11: 67,071,662 (GRCm39)	N493S	probably benign	Het
Myo9b	A	T	8: 71,807,171 (GRCm39)	Q1589L	probably damaging	Het
Or1e29	A	T	11: 73,667,298 (GRCm39)	L285Q	probably damaging	Het
Or5ac20	T	A	16: 59,104,291 (GRCm39)	T190S	possibly damaging	Het
Osbpl8	A	G	10: 111,127,417 (GRCm39)	I834V	probably benign	Het
P2ry12	A	T	3: 59,125,579 (GRCm39)	V32D	probably damaging	Het
Polg	A	G	7: 79,101,660 (GRCm39)	V1052A	probably damaging	Het
Prss38	A	C	11: 59,263,881 (GRCm39)	V277G	probably damaging	Het
Ro60	A	C	1: 143,646,509 (GRCm39)	S79A	probably benign	Het
Scara3	C	T	14: 66,168,603 (GRCm39)	R338H	probably damaging	Het
Skint4	T	C	4: 111,944,239 (GRCm39)	L17P	probably damaging	Het
Slco1a6	C	T	6: 142,048,875 (GRCm39)		probably benign	Het
Smyd2	T	A	1: 189,621,029 (GRCm39)	I230F	probably damaging	Het
Sv2b	G	T	7: 74,786,068 (GRCm39)	H451N	probably benign	Het
Tbpl2	A	T	2: 23,961,997 (GRCm39)		probably benign	Het
Tmprss9	A	G	10: 80,719,863 (GRCm39)	D144G	possibly damaging	Het
Vwa8	T	C	14: 79,171,196 (GRCm39)	Y247H	probably damaging	Het
Zc3h15	T	C	2: 83,492,535 (GRCm39)	Y337H	possibly damaging	Het

Other mutations in Rell2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1636:Rell2	UTSW	18	38,091,132 (GRCm39)	missense	probably damaging	1.00
R4124:Rell2	UTSW	18	38,091,267 (GRCm39)	missense	probably benign	0.20
R4127:Rell2	UTSW	18	38,091,267 (GRCm39)	missense	probably benign	0.20
R4852:Rell2	UTSW	18	38,089,621 (GRCm39)	critical splice donor site	probably null
R4956:Rell2	UTSW	18	38,090,758 (GRCm39)	missense	probably damaging	1.00
R6803:Rell2	UTSW	18	38,089,994 (GRCm39)	missense	probably damaging	1.00
R6941:Rell2	UTSW	18	38,091,341 (GRCm39)	missense	probably benign	0.01
R8282:Rell2	UTSW	18	38,090,665 (GRCm39)	missense	probably benign	0.01
Z1177:Rell2	UTSW	18	38,090,710 (GRCm39)	missense	probably benign	0.04

Posted On

2016-08-02