Mutagenetix > Incidental Mutation

Incidental Mutation 'R1473:Mast2'

165906

Institutional Source

Beutler Lab

Gene Symbol

Mast2

Ensembl Gene

ENSMUSG00000003810

Gene Name

microtubule associated serine/threonine kinase 2

Synonyms

MAST205, Mtssk

MMRRC Submission

039526-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1473 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116306762-116464183 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116311955 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 814 (S814P)

Ref Sequence

ENSEMBL: ENSMUSP00000102095 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003908] [ENSMUST00000106484] [ENSMUST00000106485] [ENSMUST00000106486]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000003908
AA Change: S746P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003908
Gene: ENSMUSG00000003810
AA Change: S746P

Domain	Start	End	E-Value	Type
low complexity region	38	49	N/A	INTRINSIC
low complexity region	56	63	N/A	INTRINSIC
Pfam:DUF1908	141	416	1.8e-148	PFAM
S_TKc	452	725	2.96e-99	SMART
S_TK_X	726	786	1.08e-1	SMART
low complexity region	849	861	N/A	INTRINSIC
low complexity region	1009	1028	N/A	INTRINSIC
PDZ	1049	1129	2.23e-12	SMART
low complexity region	1142	1157	N/A	INTRINSIC
low complexity region	1177	1210	N/A	INTRINSIC
low complexity region	1224	1249	N/A	INTRINSIC
low complexity region	1279	1302	N/A	INTRINSIC
low complexity region	1345	1360	N/A	INTRINSIC
low complexity region	1437	1452	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106484
AA Change: S753P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102093
Gene: ENSMUSG00000003810
AA Change: S753P

Domain	Start	End	E-Value	Type
low complexity region	38	49	N/A	INTRINSIC
low complexity region	56	63	N/A	INTRINSIC
Pfam:DUF1908	141	423	1.3e-151	PFAM
S_TKc	459	732	2.96e-99	SMART
S_TK_X	733	793	1.08e-1	SMART
low complexity region	856	868	N/A	INTRINSIC
low complexity region	1016	1035	N/A	INTRINSIC
PDZ	1056	1136	2.23e-12	SMART
low complexity region	1149	1164	N/A	INTRINSIC
low complexity region	1184	1217	N/A	INTRINSIC
low complexity region	1233	1255	N/A	INTRINSIC
low complexity region	1285	1308	N/A	INTRINSIC
low complexity region	1351	1366	N/A	INTRINSIC
low complexity region	1443	1458	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106485
AA Change: S807P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102094
Gene: ENSMUSG00000003810
AA Change: S807P

Domain	Start	End	E-Value	Type
low complexity region	7	26	N/A	INTRINSIC
low complexity region	27	41	N/A	INTRINSIC
low complexity region	99	110	N/A	INTRINSIC
low complexity region	117	124	N/A	INTRINSIC
Pfam:DUF1908	202	477	1.1e-148	PFAM
S_TKc	513	786	2.96e-99	SMART
S_TK_X	787	847	1.08e-1	SMART
low complexity region	910	922	N/A	INTRINSIC
low complexity region	1070	1089	N/A	INTRINSIC
PDZ	1110	1190	2.23e-12	SMART
low complexity region	1203	1218	N/A	INTRINSIC
low complexity region	1238	1271	N/A	INTRINSIC
low complexity region	1285	1310	N/A	INTRINSIC
low complexity region	1340	1363	N/A	INTRINSIC
low complexity region	1406	1421	N/A	INTRINSIC
low complexity region	1498	1513	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106486
AA Change: S814P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102095
Gene: ENSMUSG00000003810
AA Change: S814P

Domain	Start	End	E-Value	Type
low complexity region	7	26	N/A	INTRINSIC
low complexity region	27	41	N/A	INTRINSIC
low complexity region	99	110	N/A	INTRINSIC
low complexity region	117	124	N/A	INTRINSIC
Pfam:DUF1908	202	483	2.9e-143	PFAM
S_TKc	520	793	2.96e-99	SMART
S_TK_X	794	854	1.08e-1	SMART
low complexity region	917	929	N/A	INTRINSIC
low complexity region	1077	1096	N/A	INTRINSIC
PDZ	1117	1197	2.23e-12	SMART
low complexity region	1210	1225	N/A	INTRINSIC
low complexity region	1245	1278	N/A	INTRINSIC
low complexity region	1294	1316	N/A	INTRINSIC
low complexity region	1346	1369	N/A	INTRINSIC
low complexity region	1412	1427	N/A	INTRINSIC
low complexity region	1504	1519	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123761

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131809

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147459

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156884

Meta Mutation Damage Score

0.2578

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

98% (88/90)

MGI Phenotype

PHENOTYPE: No phenotype has been reported for a gene trap strain; however, it is not yet known whether the gene trap insertion affects expression of the gene. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,068,236	D342G	probably damaging	Het
Acad8	T	C	9: 26,979,041	T293A	probably benign	Het
Adamts13	C	A	2: 26,981,753	Y310*	probably null	Het
Adcy6	T	A	15: 98,592,743	Y1102F	probably damaging	Het
Ahctf1	G	A	1: 179,776,108	T791M	probably benign	Het
Ahctf1	A	G	1: 179,799,279	V18A	probably damaging	Het
Ampd3	T	G	7: 110,804,935	S564R	probably damaging	Het
Anapc1	A	T	2: 128,617,697	I1814K	possibly damaging	Het
Arl4c	A	T	1: 88,701,609	L19Q	probably damaging	Het
Atp6v0e2	T	C	6: 48,539,264	Y49H	probably damaging	Het
Ccdc24	G	T	4: 117,869,904		probably benign	Het
Clcn6	A	C	4: 148,024,156	F139V	possibly damaging	Het
Col2a1	A	G	15: 97,982,908		probably benign	Het
Crip2	T	A	12: 113,143,500	C29S	probably damaging	Het
Cyp2a4	A	C	7: 26,314,763	N455T	probably benign	Het
Dhcr7	A	G	7: 143,841,368	D113G	probably damaging	Het
Dhcr7	T	C	7: 143,847,068	Y323H	probably damaging	Het
Dnah7a	A	C	1: 53,496,014	S2696A	probably benign	Het
Dnajc12	A	G	10: 63,397,244	T55A	probably benign	Het
Drosha	G	A	15: 12,912,520	E1075K	probably benign	Het
Duox2	A	G	2: 122,287,121	S911P	possibly damaging	Het
Ephb2	G	A	4: 136,694,058	A327V	possibly damaging	Het
Espl1	C	T	15: 102,320,443	T1711I	possibly damaging	Het
Fmnl2	A	G	2: 52,858,207	K22R	possibly damaging	Het
Fzd6	T	C	15: 39,030,963	F175L	probably damaging	Het
Gm4737	T	A	16: 46,154,819	E65V	probably damaging	Het
Gm5155	A	G	7: 17,905,091		noncoding transcript	Het
Gm6526	A	G	14: 43,748,846	I76M	probably damaging	Het
Gm6583	T	C	5: 112,354,549	T430A	probably benign	Het
Gm9881	A	T	16: 91,170,735	F34I	unknown	Het
Gm9892	T	C	8: 52,196,614	D148G	possibly damaging	Het
Grb10	C	T	11: 11,934,249	V486I	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Hdac4	T	C	1: 92,029,968	H108R	possibly damaging	Het
Hist2h2bb	G	T	3: 96,270,072	L107F	probably damaging	Het
Hmcn1	G	A	1: 150,772,552	T661I	probably benign	Het
Icam1	T	A	9: 21,027,876	I515N	probably damaging	Het
Ifi208	A	G	1: 173,695,654	R497G	possibly damaging	Het
Igsf10	A	T	3: 59,318,767	V2495E	probably damaging	Het
Iqgap1	T	C	7: 80,734,011	M1102V	probably benign	Het
Itgb4	A	T	11: 115,984,047	N410I	probably benign	Het
Jup	T	C	11: 100,379,601	H360R	possibly damaging	Het
Kif20b	T	A	19: 34,974,496	S1685T	possibly damaging	Het
Lins1	T	C	7: 66,712,046		probably null	Het
Lrig1	T	A	6: 94,607,313	T917S	probably benign	Het
Mast4	T	C	13: 102,772,519	T483A	probably damaging	Het
Mcpt1	T	C	14: 56,019,533	M176T	probably benign	Het
Mettl22	A	G	16: 8,473,961	Q38R	probably damaging	Het
Mrm2	T	C	5: 140,328,688	T131A	probably benign	Het
Nde1	T	G	16: 14,185,864	F71V	probably benign	Het
Nxn	C	T	11: 76,263,187	G274D	possibly damaging	Het
Olfr1230	A	T	2: 89,296,906	Y121*	probably null	Het
Olfr183	A	T	16: 58,999,912	T76S	probably benign	Het
Olfr414	T	A	1: 174,430,643	W72R	probably damaging	Het
Olfr427	G	T	1: 174,099,749	C97F	probably damaging	Het
Osbp2	T	C	11: 3,717,175		probably null	Het
Otud7a	C	A	7: 63,754,629		probably benign	Het
Phf3	G	A	1: 30,805,940	L1313F	probably damaging	Het
Pkhd1	A	T	1: 20,522,983	D1635E	probably benign	Het
Plpp1	A	G	13: 112,859,664	H171R	probably damaging	Het
Pofut1	A	G	2: 153,261,246	M172V	probably damaging	Het
Prmt5	A	G	14: 54,508,915	F580L	probably damaging	Het
Rab11fip3	A	T	17: 25,991,322	L987Q	probably damaging	Het
Retnlb	T	A	16: 48,818,665	C76*	probably null	Het
Rnf38	T	C	4: 44,131,584	N399S	probably benign	Het
Sbk1	A	G	7: 126,292,252	E286G	possibly damaging	Het
Scin	T	A	12: 40,077,502	T430S	probably benign	Het
Sgsm1	T	A	5: 113,263,257	T868S	probably benign	Het
Sipa1l1	G	A	12: 82,341,111	R37H	probably damaging	Het
Smchd1	A	T	17: 71,361,837		probably benign	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Soga1	A	T	2: 157,020,448	Y1520*	probably null	Het
Stk32c	C	T	7: 139,125,179	R23Q	probably damaging	Het
Sult1d1	A	G	5: 87,564,739	M82T	probably benign	Het
Tat	T	C	8: 109,996,918	L346P	probably damaging	Het
Tenm3	C	A	8: 48,310,625	G789V	probably damaging	Het
Thsd7a	C	T	6: 12,338,622	S1203N	probably benign	Het
Tmem191c	G	A	16: 17,277,962		probably null	Het
Tmem268	A	G	4: 63,580,338	T239A	probably damaging	Het
Tmem82	A	C	4: 141,616,278	L227R	possibly damaging	Het
Ttn	A	T	2: 76,727,032	I29906N	probably damaging	Het
Txndc15	T	C	13: 55,721,574		probably benign	Het
Ubqln4	A	G	3: 88,565,845	I536V	probably benign	Het
Unc80	C	T	1: 66,521,581	H823Y	possibly damaging	Het
Vmn2r102	A	T	17: 19,694,581	I803F	probably benign	Het
Vmn2r6	G	T	3: 64,538,158	Y715*	probably null	Het
Vmn2r74	A	T	7: 85,961,410	C25S	probably damaging	Het
Wdr38	A	G	2: 39,000,979	T261A	probably benign	Het
Zfp653	T	C	9: 22,058,220	E250G	possibly damaging	Het

Other mutations in Mast2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Mast2	APN	4	116311329	missense	probably benign	0.39
IGL00916:Mast2	APN	4	116327633	missense	possibly damaging	0.88
IGL02112:Mast2	APN	4	116319764	missense	probably damaging	1.00
R0645:Mast2	UTSW	4	116307987	missense	probably damaging	1.00
R0645:Mast2	UTSW	4	116312846	splice site	probably benign
R0883:Mast2	UTSW	4	116311767	missense	probably damaging	1.00
R1447:Mast2	UTSW	4	116312013	missense	probably benign	0.02
R1449:Mast2	UTSW	4	116309013	missense	probably damaging	1.00
R1491:Mast2	UTSW	4	116316491	missense	possibly damaging	0.90
R1529:Mast2	UTSW	4	116430519	missense	probably benign	0.17
R1654:Mast2	UTSW	4	116316550	critical splice acceptor site	probably null
R1768:Mast2	UTSW	4	116306959	missense	probably damaging	1.00
R1807:Mast2	UTSW	4	116310741	splice site	probably benign
R1981:Mast2	UTSW	4	116314840	missense	probably damaging	1.00
R2081:Mast2	UTSW	4	116330474	splice site	probably null
R2157:Mast2	UTSW	4	116322283	missense	probably damaging	1.00
R3409:Mast2	UTSW	4	116310910	missense	possibly damaging	0.94
R3411:Mast2	UTSW	4	116310910	missense	possibly damaging	0.94
R3434:Mast2	UTSW	4	116308095	missense	probably benign	0.00
R3435:Mast2	UTSW	4	116308095	missense	probably benign	0.00
R3953:Mast2	UTSW	4	116313729	missense	probably damaging	1.00
R4056:Mast2	UTSW	4	116337501	splice site	probably benign
R4153:Mast2	UTSW	4	116315963	missense	possibly damaging	0.91
R4648:Mast2	UTSW	4	116314839	nonsense	probably null
R4671:Mast2	UTSW	4	116308650	missense	probably damaging	1.00
R4911:Mast2	UTSW	4	116353057	missense	probably benign	0.36
R4980:Mast2	UTSW	4	116317751	missense	probably damaging	1.00
R5322:Mast2	UTSW	4	116333411	critical splice donor site	probably null
R5462:Mast2	UTSW	4	116307458	missense	probably damaging	0.99
R5586:Mast2	UTSW	4	116435563	missense	probably damaging	0.99
R5750:Mast2	UTSW	4	116308889	intron	probably benign
R5771:Mast2	UTSW	4	116333425	missense	possibly damaging	0.60
R5885:Mast2	UTSW	4	116314838	missense	probably damaging	1.00
R6230:Mast2	UTSW	4	116326098	missense	probably damaging	1.00
R6347:Mast2	UTSW	4	116317732	missense	probably damaging	1.00
R6527:Mast2	UTSW	4	116314939	missense	probably damaging	0.99
R6619:Mast2	UTSW	4	116316497	nonsense	probably null
R7070:Mast2	UTSW	4	116310855	missense	probably benign	0.03
R7303:Mast2	UTSW	4	116308311	missense	possibly damaging	0.63
R7822:Mast2	UTSW	4	116312873	missense	probably damaging	1.00
R7843:Mast2	UTSW	4	116353011	missense	probably damaging	0.98
R7918:Mast2	UTSW	4	116435535	missense	possibly damaging	0.50
R7939:Mast2	UTSW	4	116430471	missense	probably benign	0.09
R8052:Mast2	UTSW	4	116312975	missense	probably damaging	0.99
R8115:Mast2	UTSW	4	116435447	missense	probably benign	0.01
R8312:Mast2	UTSW	4	116430486	missense	probably benign
R8398:Mast2	UTSW	4	116308749	missense	probably damaging	1.00
R8477:Mast2	UTSW	4	116307210	missense	probably benign	0.43
R8759:Mast2	UTSW	4	116435560	missense	possibly damaging	0.80
R8832:Mast2	UTSW	4	116311678	critical splice donor site	probably null
R9245:Mast2	UTSW	4	116310504	missense	probably damaging	1.00
R9261:Mast2	UTSW	4	116308703	missense	probably damaging	1.00
R9530:Mast2	UTSW	4	116312338	missense	probably damaging	1.00
X0003:Mast2	UTSW	4	116307647	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- TCAAAATGTCCTGAGCCTGCCC -3'
(R):5'- CAAGTCTCACATGACTGATGTCCCC -3'

Sequencing Primer
(F):5'- ACACCTTGCTGAACCTTGGAG -3'
(R):5'- CCATGCCATGCAGCTAATCTTG -3'

Posted On

2014-03-28