Mutagenetix > Incidental Mutation

Incidental Mutation 'R8282:Rell2'

638280

Institutional Source

Beutler Lab

Gene Symbol

Rell2

Ensembl Gene

ENSMUSG00000044024

Gene Name

RELT-like 2

Synonyms

4631403P03Rik, ependolin

MMRRC Submission

067705-MU

Accession Numbers

Essential gene?

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

Stock #

R8282 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38088132-38092232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38090665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 114 (Q114L)

Ref Sequence

ENSEMBL: ENSMUSP00000070280 (fasta)

Gene Model

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

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: Q114L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000070280
Gene: ENSMUSG00000044024
AA Change: Q114L

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: Q114L

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000089552
Gene: ENSMUSG00000044024
AA Change: Q114L

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

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: Q23L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000129299
Gene: ENSMUSG00000044024
AA Change: Q23L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168056
AA Change: R92W

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130051
Gene: ENSMUSG00000044024
AA Change: R92W

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
AA Change: Q114L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000129880
Gene: ENSMUSG00000044024
AA Change: Q114L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000169498
AA Change: Q23L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000128949
Gene: ENSMUSG00000044024
AA Change: Q23L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176104
AA Change: Q114L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000135556
Gene: ENSMUSG00000044024
AA Change: Q114L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176902
AA Change: Q23L

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135176
Gene: ENSMUSG00000044024
AA Change: Q23L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177058
AA Change: Q114L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000135615
Gene: ENSMUSG00000044024
AA Change: Q114L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	A	1: 165,337,906 (GRCm39)	D173E	probably benign	Het
Ahctf1	T	C	1: 179,605,371 (GRCm39)	D721G	possibly damaging	Het
Allc	T	C	12: 28,607,356 (GRCm39)	T299A	probably damaging	Het
Ankrd55	T	A	13: 112,459,575 (GRCm39)		probably benign	Het
Axl	C	T	7: 25,463,379 (GRCm39)	D633N	probably benign	Het
Brf2	G	T	8: 27,614,621 (GRCm39)	R30S		Het
Bsn	A	G	9: 107,984,890 (GRCm39)	S283P	possibly damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ces1d	A	T	8: 93,912,740 (GRCm39)	S233T	possibly damaging	Het
Chst15	T	A	7: 131,871,879 (GRCm39)	H134L	probably benign	Het
Col14a1	A	G	15: 55,284,276 (GRCm39)	T846A	unknown	Het
Cwh43	A	T	5: 73,591,572 (GRCm39)	D555V	probably damaging	Het
Cyld	C	A	8: 89,432,043 (GRCm39)	P14T	probably benign	Het
Dctn1	G	A	6: 83,176,738 (GRCm39)	R1264H	possibly damaging	Het
Dkk3	T	A	7: 111,717,489 (GRCm39)	S327C	probably damaging	Het
Dnmbp	T	G	19: 43,879,005 (GRCm39)	H22P	unknown	Het
Duxf4	T	G	10: 58,072,148 (GRCm39)	Q22P	possibly damaging	Het
Fabp4	T	A	3: 10,270,342 (GRCm39)	T103S	probably benign	Het
Fam43a	T	C	16: 30,420,106 (GRCm39)	L230P	probably damaging	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 75,874,624 (GRCm39)		probably benign	Het
Fank1	T	A	7: 133,478,493 (GRCm39)	Y186N	probably damaging	Het
Fbxo8	G	A	8: 57,044,555 (GRCm39)	R286K	possibly damaging	Het
Fmnl2	G	A	2: 52,997,678 (GRCm39)		probably null	Het
Gli2	T	A	1: 118,765,701 (GRCm39)	S817C	probably damaging	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gstt2	C	G	10: 75,668,291 (GRCm39)	A155P	probably benign	Het
Ints9	T	A	14: 65,244,757 (GRCm39)	M213K	probably benign	Het
Jak1	G	A	4: 101,036,738 (GRCm39)	R301*	probably null	Het
Kdsr	T	C	1: 106,652,727 (GRCm39)	T302A	probably benign	Het
Khsrp	T	C	17: 57,331,123 (GRCm39)	E460G	probably damaging	Het
Larp1b	G	A	3: 40,991,245 (GRCm39)	R193H	probably damaging	Het
Nedd4l	A	G	18: 65,324,560 (GRCm39)	K487R	probably damaging	Het
Niban2	A	G	2: 32,809,029 (GRCm39)	E205G	probably benign	Het
Nwd1	T	A	8: 73,431,580 (GRCm39)	S1193T	probably damaging	Het
Or10ag57	A	T	2: 87,218,852 (GRCm39)	T268S	probably benign	Het
Or5k3	T	A	16: 58,969,529 (GRCm39)	C105*	probably null	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Padi1	T	C	4: 140,542,014 (GRCm39)	H636R	probably damaging	Het
Pdilt	A	G	7: 119,097,293 (GRCm39)	I266T	probably damaging	Het
Rfc1	A	G	5: 65,426,289 (GRCm39)		probably null	Het
Rpia	T	C	6: 70,748,002 (GRCm39)	N265D	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably null	Het
Samd12	T	C	15: 53,723,645 (GRCm39)	D16G	probably damaging	Het
Slc25a54	T	C	3: 109,006,005 (GRCm39)		probably null	Het
Slc6a3	T	A	13: 73,705,200 (GRCm39)	D230E	probably benign	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Synpo2l	A	G	14: 20,711,204 (GRCm39)	V472A	probably benign	Het
Taf6l	A	G	19: 8,750,714 (GRCm39)	I120T	possibly damaging	Het
Tent5c	A	G	3: 100,380,327 (GRCm39)	V143A	probably damaging	Het
Trappc11	T	C	8: 47,969,624 (GRCm39)	D328G	probably damaging	Het
Trp53bp1	A	G	2: 121,029,523 (GRCm39)	S1836P	probably damaging	Het
Ugt2b37	G	A	5: 87,402,440 (GRCm39)	L64F	probably benign	Het
Vmn2r56	A	T	7: 12,449,601 (GRCm39)	Y212*	probably null	Het
Vps54	T	A	11: 21,250,464 (GRCm39)		probably benign	Het
Zfp268	A	T	4: 145,349,547 (GRCm39)	D328V	possibly damaging	Het
Zfp648	T	A	1: 154,080,535 (GRCm39)	H231Q	probably benign	Het
Zscan4d	T	A	7: 10,896,369 (GRCm39)	T334S	possibly damaging	Het
Zswim9	T	C	7: 12,995,536 (GRCm39)	M207V	probably benign	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
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
Z1177:Rell2	UTSW	18	38,090,710 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- GCTCTCTTTAGTAAGCAGGGTG -3'
(R):5'- TTGGGGCTCCAGTTTAACCTC -3'

Sequencing Primer
(F):5'- CTCTCTTTAGTAAGCAGGGTGGAAAG -3'
(R):5'- TGGACTACTATATCCCCACCTG -3'

Posted On

2020-07-28