Mutagenetix > Incidental Mutation

Incidental Mutation 'R9245:Mast2'

701200

Institutional Source

Beutler Lab

Gene Symbol

Mast2

Ensembl Gene

ENSMUSG00000003810

Gene Name

microtubule associated serine/threonine kinase 2

Synonyms

MAST205, Mtssk

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9245 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116163957-116321420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116167701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1052 (V1052A)

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: V984A

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

SMART Domains

Protein: ENSMUSP00000003908
Gene: ENSMUSG00000003810
AA Change: V984A

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: V991A

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

SMART Domains

Protein: ENSMUSP00000102093
Gene: ENSMUSG00000003810
AA Change: V991A

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: V1045A

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

SMART Domains

Protein: ENSMUSP00000102094
Gene: ENSMUSG00000003810
AA Change: V1045A

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: V1052A

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

SMART Domains

Protein: ENSMUSP00000102095
Gene: ENSMUSG00000003810
AA Change: V1052A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	C	A	11: 77,406,312 (GRCm39)	H96Q	possibly damaging	Het
Ankhd1	A	G	18: 36,788,653 (GRCm39)	Q411R		Het
Ankrd34c	A	T	9: 89,610,940 (GRCm39)	V467E	probably damaging	Het
Apobr	A	T	7: 126,186,507 (GRCm39)	R673*	probably null	Het
Arhgap18	T	C	10: 26,722,107 (GRCm39)	V98A	possibly damaging	Het
Arhgap30	G	T	1: 171,235,957 (GRCm39)	W777L	possibly damaging	Het
Atp8a1	A	G	5: 67,779,977 (GRCm39)	Y1154H	unknown	Het
B3gntl1	A	G	11: 121,514,770 (GRCm39)	F299S	possibly damaging	Het
Baz2a	C	T	10: 127,957,812 (GRCm39)	T1055I	probably benign	Het
Baz2b	T	C	2: 59,743,331 (GRCm39)	M1547V	probably benign	Het
Bsn	T	C	9: 107,993,292 (GRCm39)	D820G	probably damaging	Het
Castor1	T	A	11: 4,170,485 (GRCm39)	N160K	probably damaging	Het
Ccdc57	A	G	11: 120,812,578 (GRCm39)	Y59H	probably damaging	Het
Crim1	T	A	17: 78,651,871 (GRCm39)	C532S	probably damaging	Het
Csmd2	A	C	4: 128,200,168 (GRCm39)	D451A		Het
Cyp2d22	A	T	15: 82,256,748 (GRCm39)	I342K	probably damaging	Het
Des	A	T	1: 75,343,406 (GRCm39)	T430S	probably benign	Het
Dnah17	C	T	11: 118,016,503 (GRCm39)	V283I	probably benign	Het
Dnah9	C	T	11: 65,786,731 (GRCm39)	G3634E	probably benign	Het
Dst	A	G	1: 34,228,943 (GRCm39)	S2179G	probably benign	Het
Elp1	C	A	4: 56,771,003 (GRCm39)	R980L	probably benign	Het
Esrp2	T	A	8: 106,858,775 (GRCm39)	T621S	possibly damaging	Het
Ext2	C	T	2: 93,534,836 (GRCm39)	V643I	probably benign	Het
Fastk	G	A	5: 24,649,172 (GRCm39)	P72S	probably benign	Het
Fbxo28	A	G	1: 182,145,566 (GRCm39)	I174T	possibly damaging	Het
Fstl3	C	T	10: 79,614,411 (GRCm39)	L38F	probably damaging	Het
Golgb1	C	T	16: 36,739,181 (GRCm39)	Q2548*	probably null	Het
Gstm3	T	C	3: 107,874,956 (GRCm39)	T99A	probably benign	Het
H2bc15	A	G	13: 21,938,369 (GRCm39)	D26G	unknown	Het
Hadh	T	C	3: 131,034,636 (GRCm39)	N220S	probably damaging	Het
Hnrnpab	T	C	11: 51,497,240 (GRCm39)	T51A	probably benign	Het
Immt	G	T	6: 71,823,350 (GRCm39)	W67L	probably benign	Het
Ints8	T	A	4: 11,213,811 (GRCm39)		probably null	Het
Ipo7	T	C	7: 109,643,826 (GRCm39)	V407A	probably damaging	Het
Kics2	A	T	10: 121,586,273 (GRCm39)	H196L	probably damaging	Het
Kif20b	T	C	19: 34,915,725 (GRCm39)	S501P	probably benign	Het
Krt39	T	G	11: 99,407,450 (GRCm39)	Q348P	probably damaging	Het
Lrp1b	T	A	2: 40,488,456 (GRCm39)	N4543I		Het
Macrod2	T	C	2: 141,652,534 (GRCm39)	V199A	probably benign	Het
Mfap4	T	C	11: 61,378,007 (GRCm39)	F149S	probably damaging	Het
Moap1	A	G	12: 102,708,526 (GRCm39)	V341A	unknown	Het
Mprip	G	T	11: 59,628,403 (GRCm39)	E283D	possibly damaging	Het
Mrgpra2a	A	G	7: 47,077,004 (GRCm39)	F85L	possibly damaging	Het
Mx1	T	A	16: 97,252,753 (GRCm39)		probably null	Het
Ndc80	A	T	17: 71,807,294 (GRCm39)	M554K	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Or52j3	A	T	7: 102,836,194 (GRCm39)	I129F	probably damaging	Het
Or5k1b	T	A	16: 58,581,126 (GRCm39)	K138*	probably null	Het
Or6c38	T	A	10: 128,929,472 (GRCm39)	I124F	probably damaging	Het
Pck1	C	T	2: 172,996,569 (GRCm39)	T161I	probably damaging	Het
Pclo	T	A	5: 14,726,959 (GRCm39)	M1939K	unknown	Het
Pcm1	T	A	8: 41,732,877 (GRCm39)	N711K	probably damaging	Het
Pkd2l1	A	G	19: 44,143,894 (GRCm39)	V393A	probably benign	Het
Pla2g15	G	T	8: 106,889,539 (GRCm39)	A229S	possibly damaging	Het
Plekhg1	G	A	10: 3,907,141 (GRCm39)	R741Q		Het
Plod1	A	G	4: 148,010,626 (GRCm39)	L275P	possibly damaging	Het
Plvap	G	T	8: 71,964,323 (GRCm39)	T13K	possibly damaging	Het
Plxna1	A	T	6: 89,314,320 (GRCm39)	I707N	probably damaging	Het
Pnma8b	A	G	7: 16,680,843 (GRCm39)	E609G	probably benign	Het
Ptger4	C	T	15: 5,273,193 (GRCm39)		probably benign	Het
Qars1	G	T	9: 108,386,132 (GRCm39)	E108*	probably null	Het
Rfpl4	C	A	7: 5,113,840 (GRCm39)	D114Y	probably damaging	Het
Rint1	A	G	5: 24,010,411 (GRCm39)	T207A	probably benign	Het
Rxfp1	A	G	3: 79,552,261 (GRCm39)	I680T	probably benign	Het
Skint2	A	T	4: 112,502,616 (GRCm39)	K275N	probably benign	Het
Slc29a3	A	G	10: 60,559,755 (GRCm39)	V133A	possibly damaging	Het
Slc9a2	A	G	1: 40,805,460 (GRCm39)	K680E	probably benign	Het
Smc1b	A	T	15: 85,004,846 (GRCm39)	F409L	probably benign	Het
Sos2	A	T	12: 69,695,239 (GRCm39)	M166K	probably damaging	Het
Spata31h1	T	C	10: 82,123,554 (GRCm39)	D3152G	probably benign	Het
Tead1	A	G	7: 112,358,723 (GRCm39)	I12V	probably benign	Het
Tead3	C	A	17: 28,551,709 (GRCm39)	K461N	probably benign	Het
Tex12	C	A	9: 50,468,772 (GRCm39)	A83S	probably damaging	Het
Top6bl	T	G	19: 4,746,068 (GRCm39)	K199Q	possibly damaging	Het
Ttc28	A	G	5: 111,325,525 (GRCm39)	T319A	unknown	Het
Ttn	T	C	2: 76,728,593 (GRCm39)	I5496V	unknown	Het
Tubb4a	T	A	17: 57,387,959 (GRCm39)	I356F	possibly damaging	Het
Txk	A	T	5: 72,891,610 (GRCm39)	W119R	probably damaging	Het
Txnl4a	A	T	18: 80,261,937 (GRCm39)	I58F	probably benign	Het
Uba6	A	T	5: 86,318,418 (GRCm39)	Y44N	probably damaging	Het
Usp40	T	C	1: 87,878,009 (GRCm39)	T1093A	probably benign	Het
Vmn1r194	T	C	13: 22,428,731 (GRCm39)	I116T	probably benign	Het
Vmn2r14	A	G	5: 109,368,176 (GRCm39)	M272T	possibly damaging	Het
Vmn2r85	C	A	10: 130,255,033 (GRCm39)	M550I	possibly damaging	Het
Vmn2r85	C	A	10: 130,261,534 (GRCm39)	V268F	probably damaging	Het
Vwa5b2	T	A	16: 20,416,890 (GRCm39)	V529E	probably damaging	Het
Zfp141	A	T	7: 42,124,821 (GRCm39)	Y550*	probably null	Het
Zik1	G	A	7: 10,224,156 (GRCm39)	L314F	probably damaging	Het

Other mutations in Mast2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Mast2	APN	4	116,168,526 (GRCm39)	missense	probably benign	0.39
IGL00916:Mast2	APN	4	116,184,830 (GRCm39)	missense	possibly damaging	0.88
IGL02112:Mast2	APN	4	116,176,961 (GRCm39)	missense	probably damaging	1.00
R0645:Mast2	UTSW	4	116,170,043 (GRCm39)	splice site	probably benign
R0645:Mast2	UTSW	4	116,165,184 (GRCm39)	missense	probably damaging	1.00
R0883:Mast2	UTSW	4	116,168,964 (GRCm39)	missense	probably damaging	1.00
R1447:Mast2	UTSW	4	116,169,210 (GRCm39)	missense	probably benign	0.02
R1449:Mast2	UTSW	4	116,166,210 (GRCm39)	missense	probably damaging	1.00
R1473:Mast2	UTSW	4	116,169,152 (GRCm39)	missense	probably damaging	1.00
R1491:Mast2	UTSW	4	116,173,688 (GRCm39)	missense	possibly damaging	0.90
R1529:Mast2	UTSW	4	116,287,716 (GRCm39)	missense	probably benign	0.17
R1654:Mast2	UTSW	4	116,173,747 (GRCm39)	critical splice acceptor site	probably null
R1768:Mast2	UTSW	4	116,164,156 (GRCm39)	missense	probably damaging	1.00
R1807:Mast2	UTSW	4	116,167,938 (GRCm39)	splice site	probably benign
R1981:Mast2	UTSW	4	116,172,037 (GRCm39)	missense	probably damaging	1.00
R2081:Mast2	UTSW	4	116,187,671 (GRCm39)	splice site	probably null
R2157:Mast2	UTSW	4	116,179,480 (GRCm39)	missense	probably damaging	1.00
R3409:Mast2	UTSW	4	116,168,107 (GRCm39)	missense	possibly damaging	0.94
R3411:Mast2	UTSW	4	116,168,107 (GRCm39)	missense	possibly damaging	0.94
R3434:Mast2	UTSW	4	116,165,292 (GRCm39)	missense	probably benign	0.00
R3435:Mast2	UTSW	4	116,165,292 (GRCm39)	missense	probably benign	0.00
R3953:Mast2	UTSW	4	116,170,926 (GRCm39)	missense	probably damaging	1.00
R4056:Mast2	UTSW	4	116,194,698 (GRCm39)	splice site	probably benign
R4153:Mast2	UTSW	4	116,173,160 (GRCm39)	missense	possibly damaging	0.91
R4648:Mast2	UTSW	4	116,172,036 (GRCm39)	nonsense	probably null
R4671:Mast2	UTSW	4	116,165,847 (GRCm39)	missense	probably damaging	1.00
R4911:Mast2	UTSW	4	116,210,254 (GRCm39)	missense	probably benign	0.36
R4980:Mast2	UTSW	4	116,174,948 (GRCm39)	missense	probably damaging	1.00
R5322:Mast2	UTSW	4	116,190,608 (GRCm39)	critical splice donor site	probably null
R5462:Mast2	UTSW	4	116,164,655 (GRCm39)	missense	probably damaging	0.99
R5586:Mast2	UTSW	4	116,292,760 (GRCm39)	missense	probably damaging	0.99
R5750:Mast2	UTSW	4	116,166,086 (GRCm39)	intron	probably benign
R5771:Mast2	UTSW	4	116,190,622 (GRCm39)	missense	possibly damaging	0.60
R5885:Mast2	UTSW	4	116,172,035 (GRCm39)	missense	probably damaging	1.00
R6230:Mast2	UTSW	4	116,183,295 (GRCm39)	missense	probably damaging	1.00
R6347:Mast2	UTSW	4	116,174,929 (GRCm39)	missense	probably damaging	1.00
R6527:Mast2	UTSW	4	116,172,136 (GRCm39)	missense	probably damaging	0.99
R6619:Mast2	UTSW	4	116,173,694 (GRCm39)	nonsense	probably null
R7070:Mast2	UTSW	4	116,168,052 (GRCm39)	missense	probably benign	0.03
R7303:Mast2	UTSW	4	116,165,508 (GRCm39)	missense	possibly damaging	0.63
R7822:Mast2	UTSW	4	116,170,070 (GRCm39)	missense	probably damaging	1.00
R7843:Mast2	UTSW	4	116,210,208 (GRCm39)	missense	probably damaging	0.98
R7918:Mast2	UTSW	4	116,292,732 (GRCm39)	missense	possibly damaging	0.50
R7939:Mast2	UTSW	4	116,287,668 (GRCm39)	missense	probably benign	0.09
R8052:Mast2	UTSW	4	116,170,172 (GRCm39)	missense	probably damaging	0.99
R8115:Mast2	UTSW	4	116,292,644 (GRCm39)	missense	probably benign	0.01
R8312:Mast2	UTSW	4	116,287,683 (GRCm39)	missense	probably benign
R8398:Mast2	UTSW	4	116,165,946 (GRCm39)	missense	probably damaging	1.00
R8477:Mast2	UTSW	4	116,164,407 (GRCm39)	missense	probably benign	0.43
R8759:Mast2	UTSW	4	116,292,757 (GRCm39)	missense	possibly damaging	0.80
R8832:Mast2	UTSW	4	116,168,875 (GRCm39)	critical splice donor site	probably null
R9261:Mast2	UTSW	4	116,165,900 (GRCm39)	missense	probably damaging	1.00
R9530:Mast2	UTSW	4	116,169,535 (GRCm39)	missense	probably damaging	1.00
R9642:Mast2	UTSW	4	116,170,966 (GRCm39)	missense	probably damaging	0.99
R9709:Mast2	UTSW	4	116,173,044 (GRCm39)	missense	probably damaging	1.00
R9745:Mast2	UTSW	4	116,167,815 (GRCm39)	missense	probably benign	0.00
R9746:Mast2	UTSW	4	116,168,927 (GRCm39)	missense	probably benign	0.01
R9752:Mast2	UTSW	4	116,179,508 (GRCm39)	missense	probably benign	0.06
X0003:Mast2	UTSW	4	116,164,844 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GTCCACTACAACCCTGCTTG -3'
(R):5'- ATTGTTCACTTGGGCCCAC -3'

Sequencing Primer
(F):5'- AACCTGGATCTTCAGAGACCTCTATG -3'
(R):5'- ACAGCCCTGGAGACACGAG -3'

Posted On

2022-03-25