Mutagenetix > Incidental Mutations

Incidental Mutation 'R6657:Rsrc2'

526654

Institutional Source

Beutler Lab

Gene Symbol

Rsrc2

Ensembl Gene

ENSMUSG00000029422

Gene Name

arginine/serine-rich coiled-coil 2

Synonyms

1500011J06Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.938) question?

Stock #

R6657 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123728426-123749414 bp(-) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 123739567 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050827] [ENSMUST00000057795] [ENSMUST00000111515] [ENSMUST00000182015] [ENSMUST00000182093] [ENSMUST00000182241] [ENSMUST00000182309] [ENSMUST00000182411] [ENSMUST00000182489] [ENSMUST00000182556] [ENSMUST00000182955] [ENSMUST00000183147]

AlphaFold

A2RTL5

Predicted Effect

unknown
Transcript: ENSMUST00000050827
AA Change: I117T

SMART Domains

Protein: ENSMUSP00000050563
Gene: ENSMUSG00000029422
AA Change: I117T

Domain	Start	End	E-Value	Type
low complexity region	36	54	N/A	INTRINSIC
low complexity region	108	208	N/A	INTRINSIC
low complexity region	209	226	N/A	INTRINSIC
coiled coil region	228	272	N/A	INTRINSIC
low complexity region	294	308	N/A	INTRINSIC
Pfam:SMAP	354	423	6.7e-21	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000057795
AA Change: I117T

SMART Domains

Protein: ENSMUSP00000049942
Gene: ENSMUSG00000029422
AA Change: I117T

Domain	Start	End	E-Value	Type
low complexity region	50	150	N/A	INTRINSIC
low complexity region	151	168	N/A	INTRINSIC
coiled coil region	170	214	N/A	INTRINSIC
low complexity region	236	250	N/A	INTRINSIC
Pfam:SMAP	295	365	4.7e-16	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000111515
AA Change: I117T

SMART Domains

Protein: ENSMUSP00000107140
Gene: ENSMUSG00000029422
AA Change: I117T

Domain	Start	End	E-Value	Type
low complexity region	50	150	N/A	INTRINSIC
low complexity region	151	168	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181980

Predicted Effect

probably benign
Transcript: ENSMUST00000182015

SMART Domains

Protein: ENSMUSP00000138210
Gene: ENSMUSG00000029422

Domain	Start	End	E-Value	Type
low complexity region	36	69	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182093

Predicted Effect

probably benign
Transcript: ENSMUST00000182241

SMART Domains

Protein: ENSMUSP00000138162
Gene: ENSMUSG00000029422

Domain	Start	End	E-Value	Type
low complexity region	36	69	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000182309
AA Change: I175T

SMART Domains

Protein: ENSMUSP00000138691
Gene: ENSMUSG00000029422
AA Change: I175T

Domain	Start	End	E-Value	Type
low complexity region	36	54	N/A	INTRINSIC
low complexity region	108	208	N/A	INTRINSIC
low complexity region	209	226	N/A	INTRINSIC
coiled coil region	228	272	N/A	INTRINSIC
low complexity region	294	308	N/A	INTRINSIC
Pfam:SMAP	353	423	4.7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182411

SMART Domains

Protein: ENSMUSP00000138439
Gene: ENSMUSG00000029422

Domain	Start	End	E-Value	Type
low complexity region	36	54	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000182489
AA Change: I128T

SMART Domains

Protein: ENSMUSP00000138518
Gene: ENSMUSG00000029422
AA Change: I128T

Domain	Start	End	E-Value	Type
internal_repeat_1	10	46	8.8e-5	PROSPERO
low complexity region	61	161	N/A	INTRINSIC
low complexity region	162	179	N/A	INTRINSIC
coiled coil region	181	225	N/A	INTRINSIC
low complexity region	247	261	N/A	INTRINSIC
Pfam:SMAP	306	376	4e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182542

Predicted Effect

unknown
Transcript: ENSMUST00000182556
AA Change: I117T

SMART Domains

Protein: ENSMUSP00000138631
Gene: ENSMUSG00000029422
AA Change: I117T

Domain	Start	End	E-Value	Type
low complexity region	50	150	N/A	INTRINSIC
low complexity region	151	168	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182612

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182744

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182809

Predicted Effect

probably benign
Transcript: ENSMUST00000182861

Predicted Effect

probably benign
Transcript: ENSMUST00000182955

SMART Domains

Protein: ENSMUSP00000138280
Gene: ENSMUSG00000029422

Domain	Start	End	E-Value	Type
coiled coil region	1	41	N/A	INTRINSIC
low complexity region	63	77	N/A	INTRINSIC
Pfam:SMAP	122	192	1.8e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183147

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182948

Meta Mutation Damage Score

0.0726

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.0%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	T	G	8: 105,708,818	L36R	probably damaging	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Akr1b7	A	C	6: 34,416,200	D106A	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Chst5	C	T	8: 111,890,274	R238Q	probably benign	Het
Cpxm2	T	C	7: 132,049,077	Y618C	probably damaging	Het
Csnk1d	T	C	11: 120,964,994	E405G	possibly damaging	Het
Ctsh	A	T	9: 90,060,502	M37L	probably benign	Het
Eml5	T	G	12: 98,791,405	I1843L	probably damaging	Het
Ep400	C	A	5: 110,693,545		probably benign	Het
Fbln2	A	G	6: 91,259,750	N749S	possibly damaging	Het
Gpc5	A	G	14: 115,370,198	H404R	probably benign	Het
Hyal6	A	G	6: 24,734,758	D230G	possibly damaging	Het
Itga5	T	C	15: 103,350,795	D735G	probably damaging	Het
Kansl2	T	A	15: 98,524,670	Q339L	possibly damaging	Het
Lrp4	T	A	2: 91,492,053	M1078K	probably benign	Het
Mmp24	A	T	2: 155,798,179	Y143F	probably damaging	Het
Mroh7	A	T	4: 106,702,500	C743*	probably null	Het
Myh14	T	C	7: 44,637,846	N618D	probably damaging	Het
Myo19	A	T	11: 84,897,196	M324L	probably benign	Het
Nectin2	T	C	7: 19,738,140	N108S	probably benign	Het
Nrg2	A	G	18: 36,196,589	I191T	probably damaging	Het
Odf4	T	C	11: 68,926,812	N18D	probably benign	Het
Olfr1109	T	A	2: 87,093,059	I113F	probably benign	Het
Pcsk2	T	G	2: 143,690,366	L145V	probably damaging	Het
Pdzrn3	C	A	6: 101,151,022	Q894H	probably benign	Het
Pfpl	G	A	19: 12,429,926	V514I	probably benign	Het
Plbd1	A	T	6: 136,617,252	M333K	probably damaging	Het
Plec	A	T	15: 76,178,156	M2554K	possibly damaging	Het
Psmb5	A	G	14: 54,614,383	Y115H	possibly damaging	Het
Rictor	A	G	15: 6,759,496	N198D	possibly damaging	Het
Sec16a	C	T	2: 26,425,864	W262*	probably null	Het
Sfmbt1	A	G	14: 30,766,096	D8G	possibly damaging	Het
Sptbn5	T	G	2: 120,076,400		probably benign	Het
Sqor	A	G	2: 122,807,594	D139G	possibly damaging	Het
Sugt1	A	T	14: 79,607,261	T139S	probably benign	Het
Tcp11	G	A	17: 28,071,672	P159S	probably damaging	Het
Tmem262	A	G	19: 6,080,512	T89A	possibly damaging	Het
Tnfaip6	C	A	2: 52,043,783	T50N	probably damaging	Het
Ttll9	T	C	2: 152,984,262	Y131H	probably damaging	Het
Vmn1r173	T	A	7: 23,702,895	M185K	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r52	G	A	7: 10,159,163	T683I	probably damaging	Het
Vps53	A	T	11: 76,134,427	I197N	probably damaging	Het
Washc4	T	A	10: 83,558,618	F269L	possibly damaging	Het
Wdfy4	C	T	14: 33,047,251	V2086M	possibly damaging	Het
Zfp592	A	T	7: 81,025,486	T733S	possibly damaging	Het
Zfp599	A	G	9: 22,250,242	F209S	probably damaging	Het

Other mutations in Rsrc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00646:Rsrc2	APN	5	123739622	utr 5 prime	probably benign
IGL03268:Rsrc2	APN	5	123740727	nonsense	probably null
PIT4519001:Rsrc2	UTSW	5	123745072	missense	unknown
R0254:Rsrc2	UTSW	5	123740847	utr 5 prime	probably benign
R2889:Rsrc2	UTSW	5	123736557	critical splice donor site	probably benign
R3875:Rsrc2	UTSW	5	123736628	utr 5 prime	probably benign
R4914:Rsrc2	UTSW	5	123739550	utr 5 prime	probably benign
R5200:Rsrc2	UTSW	5	123739499	nonsense	probably null
R5237:Rsrc2	UTSW	5	123739582	utr 5 prime	probably benign
R5473:Rsrc2	UTSW	5	123731087	missense	probably damaging	1.00
R6263:Rsrc2	UTSW	5	123739688	start gained	probably benign
R6806:Rsrc2	UTSW	5	123739531	utr 5 prime	probably benign
R7145:Rsrc2	UTSW	5	123739567	utr 5 prime	probably benign
R8894:Rsrc2	UTSW	5	123740730	missense	unknown
X0020:Rsrc2	UTSW	5	123729223	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGTAAAGCACGCTCACTGAG -3'
(R):5'- TAGAGGCGAAGAAAGCTCCC -3'

Sequencing Primer
(F):5'- GCTCACTGAGACAACAACTAGG -3'
(R):5'- GTAGCAAGAACCTGTGCTATCTG -3'

Posted On

2018-07-23