Mutagenetix > Incidental Mutation

Incidental Mutation 'R4956:Rell2'

381611

Institutional Source

Beutler Lab

Gene Symbol

Rell2

Ensembl Gene

ENSMUSG00000044024

Gene Name

RELT-like 2

Synonyms

4631403P03Rik, ependolin

MMRRC Submission

042553-MU

Accession Numbers

Essential gene?

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

Stock #

R4956 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38088132-38092232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38090758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 145 (R145H)

Ref Sequence

ENSEMBL: ENSMUSP00000135615 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043437] [ENSMUST00000043498] [ENSMUST00000070709] [ENSMUST00000091932] [ENSMUST00000163128] [ENSMUST00000163591] [ENSMUST00000176902] [ENSMUST00000177058] [ENSMUST00000168056] [ENSMUST00000169498] [ENSMUST00000176104] [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 damaging
Transcript: ENSMUST00000070709
AA Change: R145H

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

SMART Domains

Protein: ENSMUSP00000070280
Gene: ENSMUSG00000044024
AA Change: R145H

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: R145H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089552
Gene: ENSMUSG00000044024
AA Change: R145H

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 damaging
Transcript: ENSMUST00000163591
AA Change: R54H

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

SMART Domains

Protein: ENSMUSP00000129299
Gene: ENSMUSG00000044024
AA Change: R54H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165643

Predicted Effect

probably damaging
Transcript: ENSMUST00000176902
AA Change: R54H

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

SMART Domains

Protein: ENSMUSP00000135176
Gene: ENSMUSG00000044024
AA Change: R54H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166531

Predicted Effect

probably damaging
Transcript: ENSMUST00000177058
AA Change: R145H

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

SMART Domains

Protein: ENSMUSP00000135615
Gene: ENSMUSG00000044024
AA Change: R145H

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: ENSMUST00000164499

Predicted Effect

unknown
Transcript: ENSMUST00000168056
AA Change: V123I

SMART Domains

Protein: ENSMUSP00000130051
Gene: ENSMUSG00000044024
AA Change: V123I

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 damaging
Transcript: ENSMUST00000169498
AA Change: R54H

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

SMART Domains

Protein: ENSMUSP00000128949
Gene: ENSMUSG00000044024
AA Change: R54H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000176104
AA Change: R145H

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

SMART Domains

Protein: ENSMUSP00000135556
Gene: ENSMUSG00000044024
AA Change: R145H

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: 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

0.2497

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.1%

Validation Efficiency

96% (70/73)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	G	C	1: 120,096,840 (GRCm39)		probably benign	Het
3110009E18Rik	C	T	1: 120,096,850 (GRCm39)		probably benign	Het
3110009E18Rik	G	T	1: 120,096,849 (GRCm39)		probably benign	Het
4930562C15Rik	A	G	16: 4,672,816 (GRCm39)	K866E	probably damaging	Het
Afap1l2	T	C	19: 56,931,879 (GRCm39)	M49V	probably benign	Het
Atf7ip	C	T	6: 136,583,808 (GRCm39)	R1280C	probably damaging	Het
Atp2a2	A	G	5: 122,599,643 (GRCm39)	F583L	probably benign	Het
Atxn7l3b	A	G	10: 112,764,501 (GRCm39)	C43R	probably damaging	Het
Axin2	T	C	11: 108,833,904 (GRCm39)	V617A	probably damaging	Het
Bltp3a	T	A	17: 28,108,958 (GRCm39)		probably null	Het
Brd1	A	T	15: 88,614,316 (GRCm39)	F193Y	probably damaging	Het
Cdc27	T	C	11: 104,420,221 (GRCm39)	S141G	probably damaging	Het
Chst9	A	T	18: 15,851,045 (GRCm39)	F7Y	probably damaging	Het
Cpn2	T	A	16: 30,079,233 (GRCm39)	Q156L	possibly damaging	Het
Dcaf6	A	T	1: 165,216,354 (GRCm39)	D416E	probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Eif2s3y	A	G	Y: 1,023,407 (GRCm39)	T430A	possibly damaging	Het
Enah	G	A	1: 181,745,854 (GRCm39)	T401I	probably damaging	Het
Esp38	T	G	17: 40,266,053 (GRCm39)	I54R	probably damaging	Het
Ffar4	C	T	19: 38,086,028 (GRCm39)	R152W	probably benign	Het
Flvcr1	A	G	1: 190,758,383 (GRCm39)		probably benign	Het
Fzd9	G	A	5: 135,278,796 (GRCm39)	A363V	probably damaging	Het
Gadl1	T	A	9: 115,869,987 (GRCm39)	I451N	probably benign	Het
Hmg20a	A	G	9: 56,388,948 (GRCm39)	T172A	probably damaging	Het
Ints1	G	A	5: 139,742,885 (GRCm39)	T1695M	probably damaging	Het
Ipo13	G	A	4: 117,758,768 (GRCm39)	A699V	probably benign	Het
Ipo9	A	G	1: 135,331,960 (GRCm39)		probably null	Het
Klra17	A	G	6: 129,850,279 (GRCm39)	L57P	probably damaging	Het
Map3k8	A	C	18: 4,339,530 (GRCm39)	D280E	probably benign	Het
Mycbp2	A	G	14: 103,524,675 (GRCm39)	F662L	probably damaging	Het
Ncor1	T	A	11: 62,231,431 (GRCm39)	H792L	probably damaging	Het
Nlrx1	T	A	9: 44,173,909 (GRCm39)	K431*	probably null	Het
Nos1	A	G	5: 118,085,575 (GRCm39)	N1301S	probably benign	Het
Obp2b	A	G	2: 25,627,087 (GRCm39)	T7A	probably damaging	Het
Odc1	T	C	12: 17,597,958 (GRCm39)	I95T	probably damaging	Het
Or2t43	A	G	11: 58,457,344 (GRCm39)	Y276H	probably damaging	Het
Or4c127	G	A	2: 89,833,187 (GRCm39)	V146M	probably benign	Het
Or5b97	C	T	19: 12,878,963 (GRCm39)	M60I	probably damaging	Het
Or6ae1	A	G	7: 139,741,993 (GRCm39)	I290T	possibly damaging	Het
Or6c1	A	T	10: 129,517,968 (GRCm39)	F213L	probably benign	Het
Pcif1	A	T	2: 164,731,610 (GRCm39)	Q521L	probably damaging	Het
Plekhg2	A	C	7: 28,067,780 (GRCm39)	L223R	probably damaging	Het
Plod3	A	G	5: 137,018,772 (GRCm39)	N270D	probably damaging	Het
Ppp1r37	A	T	7: 19,266,636 (GRCm39)	L417*	probably null	Het
Psmd6	C	T	14: 14,116,166 (GRCm38)	V141I	probably benign	Het
Rcn1	A	T	2: 105,225,121 (GRCm39)	Y111*	probably null	Het
Scaper	T	C	9: 55,745,426 (GRCm39)	K614R	probably damaging	Het
Scart2	A	G	7: 139,878,275 (GRCm39)	I1001V	probably benign	Het
Shbg	C	T	11: 69,508,045 (GRCm39)	E107K	probably damaging	Het
Slc30a3	G	A	5: 31,244,247 (GRCm39)	P345L	possibly damaging	Het
Tchp	A	C	5: 114,857,681 (GRCm39)	E391D	probably damaging	Het
Timeless	A	G	10: 128,077,520 (GRCm39)	D200G	probably damaging	Het
Tspear	A	G	10: 77,700,601 (GRCm39)	T144A	possibly damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vgll3	T	C	16: 65,624,820 (GRCm39)	V56A	possibly damaging	Het
Vmn2r71	C	T	7: 85,268,436 (GRCm39)	T213I	probably benign	Het
Wtap	T	C	17: 13,186,423 (GRCm39)	T375A	probably benign	Het
Yipf2	T	G	9: 21,503,204 (GRCm39)	T88P	probably damaging	Het
Zfp382	T	A	7: 29,830,979 (GRCm39)	D89E	probably benign	Het
Zfp955b	C	T	17: 33,524,209 (GRCm39)		probably benign	Het
Zpr1	C	T	9: 46,185,961 (GRCm39)	T144I	probably damaging	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
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
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'- TTGAGGAAGTCTGAAGAGCATATTG -3'
(R):5'- AAGCCTTCTGAGACTGTGGG -3'

Sequencing Primer
(F):5'- TCTGAAGAGCATATTGAAAGAACAG -3'
(R):5'- CTGTAGTTGCCTAGAGGAAATTCAG -3'

Posted On

2016-04-27