Mutagenetix > Incidental Mutation

Incidental Mutation 'R9313:Rcor3'

705690

Institutional Source

Beutler Lab

Gene Symbol

Rcor3

Ensembl Gene

ENSMUSG00000037395

Gene Name

REST corepressor 3

Synonyms

C730034D20Rik, E130101E15Rik, 4921514E24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.695) question?

Stock #

R9313 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

191782846-191822359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 191810181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 165 (H165Q)

Ref Sequence

ENSEMBL: ENSMUSP00000106473 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073279] [ENSMUST00000110849] [ENSMUST00000192128] [ENSMUST00000192158] [ENSMUST00000192491] [ENSMUST00000192866] [ENSMUST00000193144]

AlphaFold

Q6PGA0

Predicted Effect

unknown
Transcript: ENSMUST00000073279
AA Change: H165Q

SMART Domains

Protein: ENSMUSP00000073004
Gene: ENSMUSG00000037395
AA Change: H165Q

Domain	Start	End	E-Value	Type
low complexity region	17	36	N/A	INTRINSIC
ELM2	57	110	3.89e-14	SMART
SANT	141	189	4.56e-8	SMART
low complexity region	349	363	N/A	INTRINSIC
low complexity region	370	384	N/A	INTRINSIC
low complexity region	398	414	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110849
AA Change: H165Q

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106473
Gene: ENSMUSG00000037395
AA Change: H165Q

Domain	Start	End	E-Value	Type
low complexity region	17	36	N/A	INTRINSIC
ELM2	57	110	3.89e-14	SMART
SANT	141	189	4.56e-8	SMART
low complexity region	357	374	N/A	INTRINSIC
low complexity region	397	413	N/A	INTRINSIC
low complexity region	418	433	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000192128
AA Change: H165Q

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141637
Gene: ENSMUSG00000037395
AA Change: H165Q

Domain	Start	End	E-Value	Type
low complexity region	17	36	N/A	INTRINSIC
ELM2	57	110	1.8e-18	SMART
SANT	141	189	2.8e-10	SMART
coiled coil region	292	329	N/A	INTRINSIC
SANT	342	390	7.5e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192158

SMART Domains

Protein: ENSMUSP00000141841
Gene: ENSMUSG00000037395

Domain	Start	End	E-Value	Type
low complexity region	17	36	N/A	INTRINSIC
ELM2	57	98	6.6e-6	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000192491
AA Change: H165Q

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000141753
Gene: ENSMUSG00000037395
AA Change: H165Q

Domain	Start	End	E-Value	Type
low complexity region	17	36	N/A	INTRINSIC
ELM2	57	110	1.8e-18	SMART
SANT	141	189	2.8e-10	SMART
coiled coil region	292	329	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000192866
AA Change: H165Q

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

SMART Domains

Protein: ENSMUSP00000142054
Gene: ENSMUSG00000037395
AA Change: H165Q

Domain	Start	End	E-Value	Type
low complexity region	17	36	N/A	INTRINSIC
ELM2	57	110	1.8e-18	SMART
SANT	141	189	2.8e-10	SMART
coiled coil region	292	329	N/A	INTRINSIC
SANT	342	390	7.5e-13	SMART
low complexity region	449	463	N/A	INTRINSIC
low complexity region	470	484	N/A	INTRINSIC
low complexity region	498	514	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193144

SMART Domains

Protein: ENSMUSP00000142001
Gene: ENSMUSG00000037395

Domain	Start	End	E-Value	Type
ELM2	1	54	1.8e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000194750

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,207,220 (GRCm39)	T324A	probably benign	Het
Aadat	G	A	8: 60,979,635 (GRCm39)	V166I	probably benign	Het
Abca17	C	T	17: 24,565,207 (GRCm39)	S75N	probably benign	Het
Adgrb1	A	G	15: 74,411,624 (GRCm39)	T376A	probably damaging	Het
Atp5po	CTTTGACG	C	16: 91,723,804 (GRCm39)		probably null	Het
Atp5po	TTTGACGGT	TT	16: 91,723,805 (GRCm39)		probably null	Het
Car9	A	G	4: 43,507,180 (GRCm39)	E42G	probably benign	Het
Ccdc168	A	G	1: 44,096,520 (GRCm39)	V1526A	probably benign	Het
Cep41	T	C	6: 30,680,345 (GRCm39)	K9R	probably null	Het
Cfap20dc	T	A	14: 8,518,635 (GRCm38)	T274S	probably benign	Het
Ckm	A	G	7: 19,149,398 (GRCm39)	T141A	probably benign	Het
Clcc1	G	T	3: 108,581,976 (GRCm39)	R360S	probably benign	Het
Clcn3	A	C	8: 61,390,503 (GRCm39)	I146R	probably damaging	Het
Crlf1	A	G	8: 70,951,466 (GRCm39)	D115G	probably damaging	Het
Dnah1	T	A	14: 30,987,970 (GRCm39)	I3483F	probably damaging	Het
Dop1a	T	C	9: 86,406,641 (GRCm39)	*386Q	probably null	Het
Eftud2	A	G	11: 102,730,262 (GRCm39)	V899A	probably benign	Het
Ephx3	C	G	17: 32,408,290 (GRCm39)	D45H	probably benign	Het
Faap100	A	G	11: 120,267,688 (GRCm39)	S362P	probably damaging	Het
Fdps	A	T	3: 89,006,655 (GRCm39)	D78E	probably benign	Het
Fsd1l	T	G	4: 53,694,760 (GRCm39)	W405G	probably damaging	Het
Fsd1l	T	C	4: 53,701,093 (GRCm39)	V485A	possibly damaging	Het
Gm12887	C	T	4: 121,473,701 (GRCm39)	V50M	probably benign	Het
Gm45785	T	C	7: 140,398,616 (GRCm39)	I94V	unknown	Het
Hcls1	C	T	16: 36,777,000 (GRCm39)	A230V	probably benign	Het
Hmcn1	A	C	1: 150,522,343 (GRCm39)	V3519G	probably benign	Het
Hmgcs1	A	G	13: 120,165,963 (GRCm39)	Y360C	probably benign	Het
Hsd17b13	A	G	5: 104,113,639 (GRCm39)		probably null	Het
Ift57	T	A	16: 49,557,085 (GRCm39)	D235E	possibly damaging	Het
Il22b	A	G	10: 118,130,138 (GRCm39)	C89R	probably damaging	Het
Iqcn	G	A	8: 71,161,353 (GRCm39)	G182D	probably damaging	Het
Krt9	T	A	11: 100,079,547 (GRCm39)	Y615F	unknown	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Marco	T	C	1: 120,421,814 (GRCm39)	E130G	probably damaging	Het
Ms4a18	A	T	19: 10,988,804 (GRCm39)	L184Q	probably damaging	Het
Mtus1	A	T	8: 41,535,923 (GRCm39)	S598T	probably damaging	Het
Nbeal2	C	A	9: 110,463,436 (GRCm39)	R1265L	probably damaging	Het
Odf2	G	T	2: 29,816,815 (GRCm39)	G754C	probably benign	Het
Or2m12	T	G	16: 19,105,100 (GRCm39)	Y131S	probably benign	Het
Or4x13	C	A	2: 90,231,917 (GRCm39)	T304K	probably benign	Het
Or5w11	T	C	2: 87,459,076 (GRCm39)	S90P	probably benign	Het
Or6c69b	A	T	10: 129,626,789 (GRCm39)	I223N	probably damaging	Het
Paqr8	G	A	1: 21,005,128 (GRCm39)	W94*	probably null	Het
Pkd1	G	A	17: 24,813,932 (GRCm39)	G4132D	probably damaging	Het
Pom121l2	A	G	13: 22,168,506 (GRCm39)	M926V	probably benign	Het
Postn	A	T	3: 54,273,336 (GRCm39)	Y79F	probably damaging	Het
Prl7d1	T	C	13: 27,893,182 (GRCm39)	E242G	probably benign	Het
Rnf157	A	G	11: 116,250,718 (GRCm39)	V161A	probably damaging	Het
Rnf38	G	A	4: 44,143,584 (GRCm39)	T150M	probably damaging	Het
Scn4b	T	A	9: 45,058,013 (GRCm39)	V35E	probably damaging	Het
Serpina3i	T	C	12: 104,231,672 (GRCm39)	I103T	probably damaging	Het
Shcbp1	T	A	8: 4,794,518 (GRCm39)	D425V	probably damaging	Het
Sidt2	T	C	9: 45,852,658 (GRCm39)	T776A	possibly damaging	Het
Siglecg	A	G	7: 43,061,856 (GRCm39)	D534G	probably benign	Het
Sipa1l3	T	A	7: 29,077,439 (GRCm39)	T778S	probably benign	Het
Slc13a1	A	G	6: 24,108,203 (GRCm39)	V291A	probably benign	Het
Stra6l	A	G	4: 45,881,454 (GRCm39)	I439V	probably benign	Het
Tdrd7	G	A	4: 46,005,319 (GRCm39)	S375N	probably benign	Het
Tut7	A	T	13: 59,947,798 (GRCm39)	M841K	probably benign	Het
Vmn1r192	T	A	13: 22,372,191 (GRCm39)	I10L	probably benign	Het
Vmn2r34	T	G	7: 7,686,817 (GRCm39)	L293F	possibly damaging	Het
Xirp2	G	T	2: 67,347,322 (GRCm39)	A3188S	probably damaging	Het
Zfp219	A	G	14: 52,246,200 (GRCm39)	V309A	probably damaging	Het
Zfp341	C	A	2: 154,469,907 (GRCm39)	P197T	probably damaging	Het
Zfp628	G	A	7: 4,922,549 (GRCm39)	R257H	probably benign	Het
Zfp644	T	G	5: 106,784,324 (GRCm39)	Y741S	probably benign	Het

Other mutations in Rcor3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Rcor3	APN	1	191,812,271 (GRCm39)	unclassified	probably benign
IGL01688:Rcor3	APN	1	191,807,900 (GRCm39)	missense	probably damaging	1.00
IGL01905:Rcor3	APN	1	191,785,302 (GRCm39)	missense	probably damaging	1.00
R0523:Rcor3	UTSW	1	191,814,736 (GRCm39)	missense	probably damaging	1.00
R1305:Rcor3	UTSW	1	191,800,646 (GRCm39)	missense	possibly damaging	0.50
R1847:Rcor3	UTSW	1	191,785,133 (GRCm39)	missense	possibly damaging	0.83
R1850:Rcor3	UTSW	1	191,804,411 (GRCm39)	missense	probably benign
R3938:Rcor3	UTSW	1	191,785,385 (GRCm39)	missense	possibly damaging	0.92
R4403:Rcor3	UTSW	1	191,804,212 (GRCm39)	splice site	probably null
R4590:Rcor3	UTSW	1	191,810,217 (GRCm39)	missense	probably damaging	1.00
R4750:Rcor3	UTSW	1	191,814,749 (GRCm39)	missense	unknown
R5219:Rcor3	UTSW	1	191,821,813 (GRCm39)	utr 5 prime	probably benign
R5617:Rcor3	UTSW	1	191,804,430 (GRCm39)	missense	probably benign	0.09
R6059:Rcor3	UTSW	1	191,804,240 (GRCm39)	missense	probably benign	0.21
R6156:Rcor3	UTSW	1	191,812,142 (GRCm39)	unclassified	probably benign
R6250:Rcor3	UTSW	1	191,785,196 (GRCm39)	missense	probably damaging	1.00
R6258:Rcor3	UTSW	1	191,808,559 (GRCm39)	missense	probably benign	0.27
R6260:Rcor3	UTSW	1	191,808,559 (GRCm39)	missense	probably benign	0.27
R6808:Rcor3	UTSW	1	191,822,179 (GRCm39)	missense	possibly damaging	0.79
R7194:Rcor3	UTSW	1	191,810,261 (GRCm39)	missense	possibly damaging	0.88
R7387:Rcor3	UTSW	1	191,821,824 (GRCm39)	start gained	probably benign
R7402:Rcor3	UTSW	1	191,812,283 (GRCm39)	missense	probably benign	0.00
R7407:Rcor3	UTSW	1	191,785,972 (GRCm39)	missense	probably benign
R7432:Rcor3	UTSW	1	191,822,173 (GRCm39)	missense	probably damaging	1.00
R7451:Rcor3	UTSW	1	191,822,173 (GRCm39)	missense	probably damaging	1.00
R7452:Rcor3	UTSW	1	191,822,173 (GRCm39)	missense	probably damaging	1.00
R7570:Rcor3	UTSW	1	191,822,173 (GRCm39)	missense	probably damaging	1.00
R7571:Rcor3	UTSW	1	191,822,173 (GRCm39)	missense	probably damaging	1.00
R7572:Rcor3	UTSW	1	191,822,173 (GRCm39)	missense	probably damaging	1.00
R7718:Rcor3	UTSW	1	191,786,021 (GRCm39)	missense	probably benign	0.00
R7729:Rcor3	UTSW	1	191,786,078 (GRCm39)	missense	probably damaging	1.00
R7994:Rcor3	UTSW	1	191,785,945 (GRCm39)	missense	probably damaging	1.00
R8221:Rcor3	UTSW	1	191,814,749 (GRCm39)	missense	unknown
R9077:Rcor3	UTSW	1	191,807,865 (GRCm39)	missense	probably damaging	0.97
R9157:Rcor3	UTSW	1	191,810,181 (GRCm39)	missense	possibly damaging	0.63
R9206:Rcor3	UTSW	1	191,785,895 (GRCm39)	makesense	probably null
R9443:Rcor3	UTSW	1	191,786,050 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGCACACATTTGACACCAGG -3'
(R):5'- GTCCATTAAAACCAAAGGCGG -3'

Sequencing Primer
(F):5'- ACATTTGACACCAGGTAAACAATTC -3'
(R):5'- CAAAGGCGGTGGTTTCTCTTCAAAG -3'

Posted On

2022-03-25