Mutagenetix > Incidental Mutations

Incidental Mutation 'R2510:2010300C02Rik'

251884

Institutional Source

Beutler Lab

Gene Symbol

2010300C02Rik

Ensembl Gene

ENSMUSG00000026090

Gene Name

RIKEN cDNA 2010300C02 gene

Synonyms

MMRRC Submission

040416-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37611677-37720085 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37625300 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 506 (M506V)

Ref Sequence

ENSEMBL: ENSMUSP00000123803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000162875]

Predicted Effect

probably benign
Transcript: ENSMUST00000160023

SMART Domains

Protein: ENSMUSP00000125015
Gene: ENSMUSG00000026090

Domain	Start	End	E-Value	Type
internal_repeat_1	2	65	4.52e-24	PROSPERO
internal_repeat_1	65	128	4.52e-24	PROSPERO
low complexity region	181	194	N/A	INTRINSIC
low complexity region	223	237	N/A	INTRINSIC
low complexity region	263	279	N/A	INTRINSIC
low complexity region	441	465	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162875
AA Change: M506V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123803
Gene: ENSMUSG00000026090
AA Change: M506V

Domain	Start	End	E-Value	Type
low complexity region	13	43	N/A	INTRINSIC
Pfam:DUF4592	130	243	1.8e-33	PFAM
low complexity region	347	366	N/A	INTRINSIC
internal_repeat_2	387	461	2.31e-5	PROSPERO
internal_repeat_3	404	474	3.67e-5	PROSPERO
internal_repeat_1	411	526	3.02e-34	PROSPERO
internal_repeat_2	485	559	2.31e-5	PROSPERO
internal_repeat_1	537	652	3.02e-34	PROSPERO
internal_repeat_3	570	698	3.67e-5	PROSPERO
low complexity region	705	718	N/A	INTRINSIC
low complexity region	747	761	N/A	INTRINSIC
low complexity region	787	803	N/A	INTRINSIC
low complexity region	965	989	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930571K23Rik	C	A	7: 125,369,139		noncoding transcript	Het
Adra1d	C	A	2: 131,562,135	E12*	probably null	Het
Ago4	A	T	4: 126,517,071	D208E	probably damaging	Het
Agrn	A	T	4: 156,166,424		probably null	Het
Atxn2	C	T	5: 121,781,393	S388L	probably damaging	Het
Bbox1	A	T	2: 110,305,631	M1K	probably null	Het
Btaf1	G	A	19: 37,002,445	R1538H	probably benign	Het
Car11	G	A	7: 45,701,359	G93E	probably damaging	Het
Col18a1	A	G	10: 77,096,268	L329P	unknown	Het
Copb2	T	A	9: 98,571,648		probably benign	Het
Dnah2	G	T	11: 69,524,206	S234*	probably null	Het
Dnah9	T	C	11: 66,005,169	Y2460C	probably damaging	Het
Dnaic2	G	C	11: 114,757,167		probably benign	Het
Dst	C	A	1: 34,212,286	T1814K	probably benign	Het
F11	A	G	8: 45,248,638	S353P	probably damaging	Het
Fancm	A	T	12: 65,113,770		probably benign	Het
Fsip2	T	C	2: 82,986,438	S4172P	probably benign	Het
G530012D18Rik	T	G	1: 85,577,204		probably benign	Het
Gca	T	G	2: 62,689,974	S159R	probably damaging	Het
Gja8	T	G	3: 96,919,717	T210P	probably damaging	Het
Gm10639	T	A	9: 78,294,807	M1K	probably null	Het
Gm13103	G	A	4: 143,851,991	V274I	probably benign	Het
Gm5117	T	A	8: 31,738,355		noncoding transcript	Het
Gm5900	T	A	7: 104,950,364		noncoding transcript	Het
Gpi1	A	G	7: 34,205,923	S359P	probably damaging	Het
Grm5	A	G	7: 88,036,091	E472G	probably benign	Het
Hoxd12	G	A	2: 74,675,471	A129T	possibly damaging	Het
Ifnlr1	G	T	4: 135,705,248	D332Y	probably damaging	Het
Ift140	T	C	17: 25,036,308	I466T	probably benign	Het
Kansl2	A	G	15: 98,528,861		probably null	Het
Kat2a	T	C	11: 100,712,142	Q88R	probably benign	Het
Kcnh7	T	C	2: 62,721,917	D910G	probably benign	Het
Klk1b1	T	C	7: 43,969,379	V60A	probably damaging	Het
Krt7	A	C	15: 101,412,657	I62L	probably benign	Het
Llgl1	A	G	11: 60,710,036	K653E	probably damaging	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Mafb	T	G	2: 160,366,576	E34A	probably damaging	Het
Meiob	T	C	17: 24,816,597		probably benign	Het
Mllt10	C	A	2: 18,065,124	D30E	possibly damaging	Het
Mprip	T	A	11: 59,749,508		probably benign	Het
Muc5b	A	T	7: 141,859,061	N1915Y	unknown	Het
Mycbp2	C	T	14: 103,155,255	R3290Q	probably damaging	Het
Obscn	G	A	11: 59,042,314		probably benign	Het
Olfm3	T	A	3: 115,122,310	V277D	probably damaging	Het
Olfr1271	C	T	2: 90,265,606	V275I	probably damaging	Het
Olfr1286	G	A	2: 111,420,451	P167S	possibly damaging	Het
Olfr668	G	A	7: 104,925,687	H26Y	probably benign	Het
Olfr960	T	A	9: 39,623,431	F101I	probably damaging	Het
Omp	A	T	7: 98,145,345	M25K	possibly damaging	Het
Otoa	C	T	7: 121,160,472	T1099I	probably benign	Het
Pcdh15	T	G	10: 74,631,499	S1715A	probably benign	Het
Pcnx4	T	C	12: 72,566,972	W564R	probably damaging	Het
Pde12	T	C	14: 26,665,526	*609W	probably null	Het
Pitpnm2	T	C	5: 124,136,326	E240G	probably damaging	Het
Plppr4	G	T	3: 117,331,706	N161K	probably damaging	Het
Ppp1r37	T	C	7: 19,532,432	K470E	possibly damaging	Het
Ptprd	C	A	4: 76,086,011		probably null	Het
Rgs9	T	C	11: 109,268,972	Y178C	probably benign	Het
Rims2	T	G	15: 39,585,652	S1217R	probably damaging	Het
Rorc	C	T	3: 94,389,120	T208I	probably benign	Het
Ryr3	C	T	2: 112,675,904	E3458K	probably benign	Het
Scn5a	A	T	9: 119,533,685	V623E	probably benign	Het
Slc28a2	C	T	2: 122,451,016	Q229*	probably null	Het
Slc35f3	C	T	8: 126,298,706		probably benign	Het
Spg11	T	G	2: 122,075,310	I1285L	probably benign	Het
Sstr2	A	T	11: 113,624,923	I223F	probably damaging	Het
Susd1	A	T	4: 59,349,855	V527E	possibly damaging	Het
Tas1r2	A	G	4: 139,659,851	N207S	probably damaging	Het
Tmem57	A	G	4: 134,804,388	S657P	probably damaging	Het
Trappc10	A	G	10: 78,211,523	S380P	possibly damaging	Het
Ttn	T	C	2: 76,740,992	D26519G	probably damaging	Het
Vmn1r215	A	G	13: 23,076,173	I128V	probably benign	Het
Vmn1r37	T	C	6: 66,731,951	L150P	probably damaging	Het
Vmn2r52	G	T	7: 10,170,868	A348E	probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Wdyhv1	C	A	15: 58,153,624	A145D	probably damaging	Het
Ypel5	T	C	17: 72,846,391	L30P	probably damaging	Het
Zfp985	A	G	4: 147,582,986	T104A	possibly damaging	Het

Other mutations in 2010300C02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01376:2010300C02Rik	APN	1	37628344	missense	probably damaging	0.99
IGL01413:2010300C02Rik	APN	1	37612306	missense	possibly damaging	0.85
IGL01812:2010300C02Rik	APN	1	37625365	missense	probably benign	0.06
IGL02183:2010300C02Rik	APN	1	37625378	missense	possibly damaging	0.93
IGL02498:2010300C02Rik	APN	1	37623845	missense	probably benign
IGL02713:2010300C02Rik	APN	1	37624137	missense	possibly damaging	0.72
IGL02736:2010300C02Rik	APN	1	37637873	missense	probably damaging	1.00
FR4449:2010300C02Rik	UTSW	1	37625035	missense	probably benign	0.40
FR4449:2010300C02Rik	UTSW	1	37625036	nonsense	probably null
FR4548:2010300C02Rik	UTSW	1	37625035	missense	probably benign	0.40
FR4548:2010300C02Rik	UTSW	1	37625036	nonsense	probably null
FR4548:2010300C02Rik	UTSW	1	37625102	missense	probably damaging	0.96
FR4737:2010300C02Rik	UTSW	1	37625035	missense	probably benign	0.40
FR4737:2010300C02Rik	UTSW	1	37625036	nonsense	probably null
FR4976:2010300C02Rik	UTSW	1	37625035	missense	probably benign	0.40
FR4976:2010300C02Rik	UTSW	1	37625036	nonsense	probably null
FR4976:2010300C02Rik	UTSW	1	37625102	missense	probably damaging	0.96
R0022:2010300C02Rik	UTSW	1	37628245	missense	probably damaging	1.00
R0022:2010300C02Rik	UTSW	1	37628245	missense	probably damaging	1.00
R0055:2010300C02Rik	UTSW	1	37624256	missense	probably benign	0.18
R0153:2010300C02Rik	UTSW	1	37624639	missense	probably benign
R0523:2010300C02Rik	UTSW	1	37644629	start codon destroyed	probably null	0.94
R0699:2010300C02Rik	UTSW	1	37612330	missense	possibly damaging	0.85
R0928:2010300C02Rik	UTSW	1	37624582	missense	possibly damaging	0.85
R1457:2010300C02Rik	UTSW	1	37626012	nonsense	probably null
R1759:2010300C02Rik	UTSW	1	37625710	missense	probably benign	0.00
R1888:2010300C02Rik	UTSW	1	37624283	missense	possibly damaging	0.53
R1888:2010300C02Rik	UTSW	1	37624283	missense	possibly damaging	0.53
R2289:2010300C02Rik	UTSW	1	37612261	missense	possibly damaging	0.53
R2421:2010300C02Rik	UTSW	1	37613475	missense	probably benign	0.33
R2422:2010300C02Rik	UTSW	1	37613475	missense	probably benign	0.33
R2509:2010300C02Rik	UTSW	1	37625300	missense	probably benign
R2511:2010300C02Rik	UTSW	1	37625300	missense	probably benign
R3893:2010300C02Rik	UTSW	1	37631458	missense	probably benign	0.00
R4351:2010300C02Rik	UTSW	1	37624912	missense	probably benign
R4454:2010300C02Rik	UTSW	1	37624753	missense	probably damaging	1.00
R4788:2010300C02Rik	UTSW	1	37631475	missense	probably damaging	1.00
R4798:2010300C02Rik	UTSW	1	37624965	missense	probably benign	0.12
R5599:2010300C02Rik	UTSW	1	37613343	missense	possibly damaging	0.53
R5920:2010300C02Rik	UTSW	1	37637981	missense	probably damaging	1.00
R6051:2010300C02Rik	UTSW	1	37624225	missense	probably damaging	0.98
R6106:2010300C02Rik	UTSW	1	37613412	missense	possibly damaging	0.53
R6794:2010300C02Rik	UTSW	1	37637855	splice site	probably null
R6828:2010300C02Rik	UTSW	1	37624817	missense	possibly damaging	0.53
R6930:2010300C02Rik	UTSW	1	37624945	missense	possibly damaging	0.73
R7044:2010300C02Rik	UTSW	1	37612280	missense	possibly damaging	0.85
R7069:2010300C02Rik	UTSW	1	37631901	missense	probably damaging	1.00
R7149:2010300C02Rik	UTSW	1	37612271	nonsense	probably null
R7296:2010300C02Rik	UTSW	1	37614618	missense	possibly damaging	0.53
R7698:2010300C02Rik	UTSW	1	37625371	missense	probably benign	0.12
R7714:2010300C02Rik	UTSW	1	37624777	missense	probably benign	0.33
X0025:2010300C02Rik	UTSW	1	37624945	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- ATCTTCTTGGGAGGTGCCAC -3'
(R):5'- GGAGACCCAGCATTTTCTGAAAG -3'

Sequencing Primer
(F):5'- TCTTGGGAGGTGCCACATCTC -3'
(R):5'- AGACACATGGCATTCCCTGGAG -3'

Posted On

2014-12-04