Mutagenetix > Incidental Mutation

Incidental Mutation 'R4124:Rell2'

315333

Institutional Source

Beutler Lab

Gene Symbol

Rell2

Ensembl Gene

ENSMUSG00000044024

Gene Name

RELT-like 2

Synonyms

4631403P03Rik, ependolin

MMRRC Submission

041632-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R4124 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38088132-38092232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38091267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 144 (H144R)

Ref Sequence

ENSEMBL: ENSMUSP00000135176 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043437] [ENSMUST00000043498] [ENSMUST00000070709] [ENSMUST00000091932] [ENSMUST00000163128] [ENSMUST00000163591] [ENSMUST00000169498] [ENSMUST00000176104] [ENSMUST00000177058] [ENSMUST00000176902] [ENSMUST00000168056] [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: H235R

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000070280
Gene: ENSMUSG00000044024
AA Change: H235R

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 benign
Transcript: ENSMUST00000091932
AA Change: H235R

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000089552
Gene: ENSMUSG00000044024
AA Change: H235R

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

probably benign
Transcript: ENSMUST00000163591
AA Change: H144R

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000129299
Gene: ENSMUSG00000044024
AA Change: H144R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165643

Predicted Effect

probably benign
Transcript: ENSMUST00000169498
AA Change: H144R

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000128949
Gene: ENSMUSG00000044024
AA Change: H144R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176104
AA Change: H235R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000135556
Gene: ENSMUSG00000044024
AA Change: H235R

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: H235R

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000135615
Gene: ENSMUSG00000044024
AA Change: H235R

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 benign
Transcript: ENSMUST00000176902
AA Change: H144R

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135176
Gene: ENSMUSG00000044024
AA Change: H144R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166531

Predicted Effect

probably benign
Transcript: ENSMUST00000168056

SMART Domains

Protein: ENSMUSP00000130051
Gene: ENSMUSG00000044024

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: ENSMUST00000169360

SMART Domains

Protein: ENSMUSP00000129880
Gene: ENSMUSG00000044024

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	A	7: 40,643,345 (GRCm39)	M338K	probably damaging	Het
4933409G03Rik	T	A	2: 68,446,568 (GRCm39)		probably benign	Het
Adamtsl4	C	T	3: 95,588,982 (GRCm39)	R483Q	probably benign	Het
Aldh7a1	A	T	18: 56,670,395 (GRCm39)		probably benign	Het
Ank	T	C	15: 27,571,709 (GRCm39)	F327S	probably damaging	Het
Ap2b1	A	G	11: 83,256,471 (GRCm39)		probably null	Het
Cd6	G	T	19: 10,767,972 (GRCm39)	P630T	probably damaging	Het
Cdk19	A	G	10: 40,270,391 (GRCm39)	I67V	probably benign	Het
D630003M21Rik	C	T	2: 158,038,513 (GRCm39)	V978M	probably damaging	Het
Dsp	A	G	13: 38,370,689 (GRCm39)	D864G	probably damaging	Het
Duox1	A	G	2: 122,167,902 (GRCm39)	R1062G	probably damaging	Het
Fbp2	T	C	13: 63,002,755 (GRCm39)	E99G	probably damaging	Het
Fras1	A	G	5: 96,918,512 (GRCm39)	D3516G	probably benign	Het
Gpx6	C	T	13: 21,501,815 (GRCm39)	Q146*	probably null	Het
Grid2	A	T	6: 63,480,417 (GRCm39)	Q77L	probably benign	Het
Hrh1	T	C	6: 114,457,580 (GRCm39)	V287A	probably benign	Het
Kmt2a	T	C	9: 44,731,093 (GRCm39)		probably benign	Het
Mak	A	T	13: 41,210,106 (GRCm39)	D43E	probably benign	Het
Or14j8	A	G	17: 38,263,681 (GRCm39)	I78T	probably benign	Het
Poln	A	G	5: 34,261,295 (GRCm39)	S561P	probably benign	Het
Ptpn11	T	C	5: 121,275,520 (GRCm39)	S562G	probably benign	Het
Pxn	A	G	5: 115,684,966 (GRCm39)	R264G	probably damaging	Het
Rpgrip1	T	C	14: 52,389,781 (GRCm39)		probably null	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slamf9	T	C	1: 172,303,808 (GRCm39)	I51T	probably damaging	Het
Tep1	C	T	14: 51,081,191 (GRCm39)	R1349Q	possibly damaging	Het
Tgtp2	T	C	11: 48,950,238 (GRCm39)	I111M	probably damaging	Het
Trip11	G	A	12: 101,861,957 (GRCm39)	Q203*	probably null	Het
Vmn1r215	A	T	13: 23,260,163 (GRCm39)	T68S	probably benign	Het
Ypel2	A	G	11: 86,836,753 (GRCm39)		probably null	Het

Other mutations in Rell2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03075:Rell2	APN	18	38,090,734 (GRCm39)	missense	probably damaging	0.99
R1636:Rell2	UTSW	18	38,091,132 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- CGGCCTACATGAACATCGTGATG -3'
(R):5'- TGGTAAGATGTGTGTCCGCC -3'

Sequencing Primer
(F):5'- ACATGAACATCGTGATGGTTCCC -3'
(R):5'- TCATACCTGCTGACCTGAGGTG -3'

Posted On

2015-05-14