Mutagenetix > Incidental Mutation

Incidental Mutation 'R9157:Rcor3'

695411

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 #

R9157 (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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,207,220 (GRCm39)	T324A	probably benign	Het
Adam9	A	T	8: 25,493,331 (GRCm39)	F92L	probably damaging	Het
Adgrb1	A	G	15: 74,411,624 (GRCm39)	T376A	probably damaging	Het
Aff3	A	C	1: 38,249,559 (GRCm39)	I516S	probably benign	Het
Bdp1	C	T	13: 100,186,436 (GRCm39)	S1672N	probably benign	Het
Btc	A	T	5: 91,513,980 (GRCm39)	I94N	probably damaging	Het
Ccdc168	A	G	1: 44,096,520 (GRCm39)	V1526A	probably benign	Het
Ccdc47	A	T	11: 106,093,208 (GRCm39)		probably null	Het
Ceacam5	A	T	7: 17,493,419 (GRCm39)	Y814F	possibly damaging	Het
Celsr3	A	T	9: 108,707,185 (GRCm39)	R1223W	probably damaging	Het
Cenpc1	A	G	5: 86,166,316 (GRCm39)	M779T	probably benign	Het
Cfap20dc	T	A	14: 8,518,635 (GRCm38)	T274S	probably benign	Het
Depdc5	T	C	5: 33,102,452 (GRCm39)	I986T	probably damaging	Het
Dhx40	A	T	11: 86,662,050 (GRCm39)	I669N	probably damaging	Het
Dnah1	T	A	14: 30,987,970 (GRCm39)	I3483F	probably damaging	Het
Dzip3	C	T	16: 48,748,124 (GRCm39)	G918D	probably benign	Het
Fam185a	T	G	5: 21,660,837 (GRCm39)	V284G	probably damaging	Het
Fhod3	T	C	18: 25,218,651 (GRCm39)	S805P	probably damaging	Het
Filip1l	A	G	16: 57,391,980 (GRCm39)	N856S	probably benign	Het
Gm12887	C	T	4: 121,473,701 (GRCm39)	V50M	probably benign	Het
Gm45785	T	C	7: 140,398,616 (GRCm39)	I94V	unknown	Het
Gm9195	A	G	14: 72,692,038 (GRCm39)	I1616T	unknown	Het
Grm4	T	A	17: 27,653,956 (GRCm39)	I665F	probably benign	Het
Hcls1	C	T	16: 36,777,000 (GRCm39)	A230V	probably benign	Het
Hic1	A	G	11: 75,057,053 (GRCm39)	L612P	possibly damaging	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
Hspa12a	A	T	19: 58,789,292 (GRCm39)	M448K	possibly damaging	Het
Htt	T	G	5: 34,987,171 (GRCm39)	I1130S	probably null	Het
Irx3	A	G	8: 92,527,694 (GRCm39)	Y59H	probably damaging	Het
Klc4	A	G	17: 46,950,361 (GRCm39)	L280P	probably damaging	Het
Lrp1	G	T	10: 127,410,209 (GRCm39)	N1512K	probably damaging	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
Mdga1	G	A	17: 30,057,491 (GRCm39)	T775M	probably damaging	Het
Ms4a18	A	T	19: 10,988,804 (GRCm39)	L184Q	probably damaging	Het
Msi2	A	C	11: 88,608,889 (GRCm39)	S10A	probably benign	Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Ngfr	AAGCAGCAGCAGCAGCAGCAGCAG	AAGCAGCAGCAGCAGCAGCAG	11: 95,478,316 (GRCm39)		probably benign	Het
Nradd	A	G	9: 110,451,188 (GRCm39)	L60P	probably damaging	Het
Nup188	A	G	2: 30,188,456 (GRCm39)	Y39C	probably benign	Het
Odf2	G	T	2: 29,816,815 (GRCm39)	G754C	probably benign	Het
Or10a2	A	T	7: 106,673,214 (GRCm39)	M60L	probably damaging	Het
Or12d15	A	G	17: 37,694,183 (GRCm39)	M242V	probably benign	Het
Or13d1	A	G	4: 52,971,419 (GRCm39)	Y266C	possibly damaging	Het
Or4b1	A	G	2: 89,979,522 (GRCm39)	I276T	possibly damaging	Het
Osbpl6	C	T	2: 76,382,468 (GRCm39)	P222S	probably benign	Het
Pcdhga3	T	C	18: 37,809,229 (GRCm39)	Y561H	probably benign	Het
Phykpl	G	A	11: 51,490,375 (GRCm39)	V419I	probably benign	Het
Pskh1	A	G	8: 106,640,142 (GRCm39)	Y274C	possibly damaging	Het
Rap1gap	G	T	4: 137,444,742 (GRCm39)	V219F	probably damaging	Het
Rapgef4	C	A	2: 72,005,212 (GRCm39)	H220N	probably benign	Het
Reg3d	T	C	6: 78,354,422 (GRCm39)	T60A	possibly damaging	Het
Rgs9	T	A	11: 109,116,549 (GRCm39)	D644V	probably damaging	Het
Rhob	T	A	12: 8,549,319 (GRCm39)	H105L	probably benign	Het
Rph3a	T	C	5: 121,101,892 (GRCm39)	K115E	probably damaging	Het
Rsf1	GG	GGGGACGGCCG	7: 97,229,113 (GRCm39)		probably benign	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
Sidt2	T	C	9: 45,852,658 (GRCm39)	T776A	possibly damaging	Het
Slc15a1	T	C	14: 121,702,389 (GRCm39)	I586V	probably benign	Het
Slc15a5	A	T	6: 137,961,456 (GRCm39)	V213E		Het
Stard13	C	A	5: 151,157,152 (GRCm39)	A10S	probably benign	Het
Taf6	C	A	5: 138,179,221 (GRCm39)	V406F	possibly damaging	Het
Tap2	G	T	17: 34,431,004 (GRCm39)	R368L	possibly damaging	Het
Tmem236	T	C	2: 14,223,889 (GRCm39)	V226A	probably benign	Het
Tmem87a	T	A	2: 120,210,093 (GRCm39)	I287F	possibly damaging	Het
Ttll13	A	T	7: 79,904,428 (GRCm39)	K351I	possibly damaging	Het
Ttn	T	A	2: 76,581,245 (GRCm39)	Y23216F	probably damaging	Het
Vmn2r27	T	C	6: 124,201,244 (GRCm39)	T238A	probably benign	Het
Vmn2r54	T	C	7: 12,366,055 (GRCm39)	Y293C	possibly damaging	Het
Vsig10l	T	C	7: 43,112,948 (GRCm39)	S69P		Het
Wdr83	G	A	8: 85,806,432 (GRCm39)	T122I	probably damaging	Het
Zfp219	A	G	14: 52,246,200 (GRCm39)	V309A	probably damaging	Het
Zfp354a	C	T	11: 50,960,788 (GRCm39)	S332F	probably damaging	Het
Zfp354b	T	C	11: 50,813,887 (GRCm39)	N346S	possibly damaging	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
R9206:Rcor3	UTSW	1	191,785,895 (GRCm39)	makesense	probably null
R9313:Rcor3	UTSW	1	191,810,181 (GRCm39)	missense	possibly damaging	0.63
R9443:Rcor3	UTSW	1	191,786,050 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACACATTTGACACCAGG -3'
(R):5'- CCATTAAAACCAAAGGCGGTG -3'

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

Posted On

2022-01-20