Mutagenetix > Incidental Mutation

Incidental Mutation 'R4750:Rcor3'

357462

Institutional Source

Beutler Lab

Gene Symbol

Rcor3

Ensembl Gene

ENSMUSG00000037395

Gene Name

REST corepressor 3

Synonyms

E130101E15Rik, C730034D20Rik, 4921514E24Rik

MMRRC Submission

042031-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.648) question?

Stock #

R4750 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

192098546-192138062 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 192130449 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 77 (Y77H)

Ref Sequence

ENSEMBL: ENSMUSP00000141841 (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: Y77H

SMART Domains

Protein: ENSMUSP00000073004
Gene: ENSMUSG00000037395
AA Change: Y77H

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

probably damaging
Transcript: ENSMUST00000110849
AA Change: Y77H

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106473
Gene: ENSMUSG00000037395
AA Change: Y77H

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

probably damaging
Transcript: ENSMUST00000192128
AA Change: Y77H

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141637
Gene: ENSMUSG00000037395
AA Change: Y77H

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

unknown
Transcript: ENSMUST00000192158
AA Change: Y77H

SMART Domains

Protein: ENSMUSP00000141841
Gene: ENSMUSG00000037395
AA Change: Y77H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000192491
AA Change: Y77H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141753
Gene: ENSMUSG00000037395
AA Change: Y77H

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: Y77H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142054
Gene: ENSMUSG00000037395
AA Change: Y77H

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

unknown
Transcript: ENSMUST00000193144
AA Change: Y21H

SMART Domains

Protein: ENSMUSP00000142001
Gene: ENSMUSG00000037395
AA Change: Y21H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194362

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194493

Meta Mutation Damage Score

0.2739

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

97% (89/92)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008P14Rik	C	T	2: 32,379,413		probably null	Het
1700074P13Rik	A	G	6: 40,921,021	W243R	probably damaging	Het
2510039O18Rik	T	A	4: 147,941,488	L155Q	probably damaging	Het
Aadac	T	C	3: 60,035,817	F48L	probably benign	Het
Aadat	T	A	8: 60,526,600	N165K	probably benign	Het
Acan	C	A	7: 79,092,718	D557E	probably damaging	Het
Adamts4	T	A	1: 171,251,066	V85D	probably benign	Het
Agt	A	G	8: 124,556,937	V481A	probably benign	Het
Angpt1	T	C	15: 42,676,401	N21D	probably benign	Het
Ankrd52	A	C	10: 128,378,089	D38A	probably damaging	Het
Ap1g2	G	T	14: 55,104,365	Q247K	probably damaging	Het
Apaf1	T	C	10: 91,060,188	R341G	probably damaging	Het
Arf2	T	C	11: 103,979,759		probably null	Het
Arhgef1	A	G	7: 24,918,576		probably benign	Het
Bbox1	T	A	2: 110,265,521	Y366F	possibly damaging	Het
Bmp3	A	G	5: 98,872,558	E280G	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdh12	T	A	15: 21,583,808	V578D	possibly damaging	Het
Cdk19	T	C	10: 40,476,199	S282P	probably damaging	Het
Cfap46	A	G	7: 139,679,323		probably null	Het
Cfhr3	T	A	1: 139,584,828		noncoding transcript	Het
Ctrc	T	A	4: 141,841,523	Y123F	probably benign	Het
Enpp4	A	G	17: 44,102,355	M96T	probably damaging	Het
Exosc10	T	A	4: 148,562,394	S154T	possibly damaging	Het
Fbxo21	G	A	5: 118,000,468	R486H	probably benign	Het
Foxj3	C	A	4: 119,616,590	A204E	probably damaging	Het
Gas6	T	G	8: 13,476,227	D237A	probably benign	Het
Gimap8	A	G	6: 48,650,427	S112G	probably benign	Het
Gm4787	T	C	12: 81,378,367	N339S	possibly damaging	Het
Gm6185	T	C	1: 161,182,363		noncoding transcript	Het
Gramd3	A	G	18: 56,432,300	E9G	probably benign	Het
Hmgxb3	A	T	18: 61,167,496	D169E	probably benign	Het
Isl2	T	A	9: 55,544,312	V162D	probably benign	Het
Kcns3	T	A	12: 11,091,654	D348V	probably damaging	Het
Kcp	G	A	6: 29,484,626	P1318S	probably benign	Het
Kif12	T	A	4: 63,167,783	Q415L	probably damaging	Het
Lama3	T	A	18: 12,504,359	H45Q	probably benign	Het
Lonp2	A	T	8: 86,631,502	K117M	probably benign	Het
Loxl4	T	A	19: 42,605,004	N243Y	probably damaging	Het
Lrif1	C	A	3: 106,735,564	Q662K	probably benign	Het
Lrrc37a	T	A	11: 103,455,480	I3187L	probably benign	Het
Lsg1	A	G	16: 30,565,449	I521T	probably damaging	Het
Mecom	T	G	3: 29,957,530	K865Q	probably damaging	Het
Myh10	T	C	11: 68,785,314	I790T	probably damaging	Het
Nek7	C	T	1: 138,498,673	S234N	probably damaging	Het
Nepro	T	C	16: 44,730,182	L179P	probably damaging	Het
Nexn	A	G	3: 152,237,722	C649R	probably damaging	Het
Nsmf	T	C	2: 25,055,026	S34P	probably damaging	Het
Olfr1140	C	T	2: 87,746,508	T104I	probably benign	Het
Olfr1339	T	A	4: 118,734,733	V68D	possibly damaging	Het
Olfr1350	A	G	7: 6,570,851	I287V	probably benign	Het
Olfr1364	A	G	13: 21,573,743	S238P	possibly damaging	Het
Olfr354	T	A	2: 36,907,716	S257T	probably benign	Het
Olfr406	T	A	11: 74,269,420	F10L	probably benign	Het
Olfr417	A	G	1: 174,368,922	I2V	probably benign	Het
Olfr685	A	T	7: 105,180,926	I144N	probably damaging	Het
Olfr702	A	G	7: 106,824,307	F73S	probably damaging	Het
P2rx5	G	T	11: 73,164,877	K53N	probably damaging	Het
Pcdhb20	C	A	18: 37,506,131	A570E	possibly damaging	Het
Pip4k2c	T	C	10: 127,211,417	H32R	unknown	Het
Pkhd1	T	A	1: 20,524,112	D1259V	possibly damaging	Het
Plekha7	A	T	7: 116,137,311	V889E	probably damaging	Het
Polr2b	A	C	5: 77,332,039	E546D	possibly damaging	Het
Ppm1l	A	G	3: 69,549,328	T193A	probably damaging	Het
Ppp1r37	G	T	7: 19,531,520	D710E	probably benign	Het
Prdm4	A	G	10: 85,899,221	F679L	probably damaging	Het
Prkcd	A	G	14: 30,610,301	M1T	probably null	Het
Rdh5	T	C	10: 128,918,366	E66G	possibly damaging	Het
Slc12a5	A	G	2: 164,982,931	M396V	probably benign	Het
Slco5a1	T	G	1: 12,879,280	T629P	probably damaging	Het
Smarca5	A	C	8: 80,733,707	N133K	probably benign	Het
Spag5	T	C	11: 78,320,052	M927T	probably benign	Het
Spint4	A	T	2: 164,700,146	D39V	probably damaging	Het
Syt6	T	A	3: 103,630,917	*512R	probably null	Het
Tmem247	T	C	17: 86,922,342	C204R	probably damaging	Het
Tmem72	A	G	6: 116,695,434	Y149H	probably damaging	Het
Trpm6	T	C	19: 18,876,064	V1816A	probably damaging	Het
Usp35	A	G	7: 97,310,339	V1008A	possibly damaging	Het
Washc4	T	C	10: 83,591,052	S1075P	probably damaging	Het
Wdr34	T	C	2: 30,033,920	T198A	probably benign	Het
Xylb	G	T	9: 119,359,313	G62*	probably null	Het
Zfp142	T	C	1: 74,572,458	E623G	probably damaging	Het
Zfp239	A	G	6: 117,871,739	Y146C	probably damaging	Het

Other mutations in Rcor3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Rcor3	APN	1	192127971	unclassified	probably benign
IGL01688:Rcor3	APN	1	192123600	missense	probably damaging	1.00
IGL01905:Rcor3	APN	1	192101002	missense	probably damaging	1.00
R0523:Rcor3	UTSW	1	192130436	missense	probably damaging	1.00
R1305:Rcor3	UTSW	1	192116346	missense	possibly damaging	0.50
R1847:Rcor3	UTSW	1	192100833	missense	possibly damaging	0.83
R1850:Rcor3	UTSW	1	192120111	missense	probably benign
R3938:Rcor3	UTSW	1	192101085	missense	possibly damaging	0.92
R4403:Rcor3	UTSW	1	192119912	splice site	probably null
R4590:Rcor3	UTSW	1	192125917	missense	probably damaging	1.00
R5219:Rcor3	UTSW	1	192137513	utr 5 prime	probably benign
R5617:Rcor3	UTSW	1	192120130	missense	probably benign	0.09
R6059:Rcor3	UTSW	1	192119940	missense	probably benign	0.21
R6156:Rcor3	UTSW	1	192127842	unclassified	probably benign
R6250:Rcor3	UTSW	1	192100896	missense	probably damaging	1.00
R6258:Rcor3	UTSW	1	192124259	missense	probably benign	0.27
R6260:Rcor3	UTSW	1	192124259	missense	probably benign	0.27
R6808:Rcor3	UTSW	1	192137882	missense	possibly damaging	0.79
R7194:Rcor3	UTSW	1	192125961	missense	possibly damaging	0.88
R7387:Rcor3	UTSW	1	192137524	start gained	probably benign
R7402:Rcor3	UTSW	1	192127983	missense	probably benign	0.00
R7407:Rcor3	UTSW	1	192101672	missense	probably benign
R7432:Rcor3	UTSW	1	192137876	missense	probably damaging	1.00
R7451:Rcor3	UTSW	1	192137876	missense	probably damaging	1.00
R7452:Rcor3	UTSW	1	192137876	missense	probably damaging	1.00
R7570:Rcor3	UTSW	1	192137876	missense	probably damaging	1.00
R7571:Rcor3	UTSW	1	192137876	missense	probably damaging	1.00
R7572:Rcor3	UTSW	1	192137876	missense	probably damaging	1.00
R7718:Rcor3	UTSW	1	192101721	missense	probably benign	0.00
R7729:Rcor3	UTSW	1	192101778	missense	probably damaging	1.00
R7994:Rcor3	UTSW	1	192101645	missense	probably damaging	1.00
R8221:Rcor3	UTSW	1	192130449	missense	unknown
R9077:Rcor3	UTSW	1	192123565	missense	probably damaging	0.97
R9157:Rcor3	UTSW	1	192125881	missense	possibly damaging	0.63
R9206:Rcor3	UTSW	1	192101595	makesense	probably null
R9313:Rcor3	UTSW	1	192125881	missense	possibly damaging	0.63
R9443:Rcor3	UTSW	1	192101750	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTCTAACACAGCGAAGGTTTC -3'
(R):5'- GGTCTGCTACAATGTTTCGCTC -3'

Sequencing Primer
(F):5'- GAAACAAAGCTAATTCAGTTCTTAGC -3'
(R):5'- ATGTTTCGCTCATCTTACATAAGTC -3'

Posted On

2015-11-11