Mutagenetix > Incidental Mutation

Incidental Mutation 'R9745:Mast2'

732029

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 #

R9745 (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 116167815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1014 (L1014P)

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 benign
Transcript: ENSMUST00000003908
AA Change: L946P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000003908
Gene: ENSMUSG00000003810
AA Change: L946P

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 benign
Transcript: ENSMUST00000106484
AA Change: L953P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102093
Gene: ENSMUSG00000003810
AA Change: L953P

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 benign
Transcript: ENSMUST00000106485
AA Change: L1007P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102094
Gene: ENSMUSG00000003810
AA Change: L1007P

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 benign
Transcript: ENSMUST00000106486
AA Change: L1014P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102095
Gene: ENSMUSG00000003810
AA Change: L1014P

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: 99.8%
3x: 99.6%
10x: 99.1%
20x: 97.9%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	T	A	10: 126,919,380 (GRCm39)	H488Q	unknown	Het
Ces1b	T	C	8: 93,790,625 (GRCm39)	D388G	probably benign	Het
Ces1f	T	C	8: 93,989,740 (GRCm39)	D392G	probably benign	Het
Ces5a	A	G	8: 94,228,814 (GRCm39)	V472A	probably damaging	Het
Chst1	A	G	2: 92,444,047 (GRCm39)	D173G	possibly damaging	Het
Cngb1	T	G	8: 95,967,919 (GRCm39)	E1294A	unknown	Het
Cnmd	T	C	14: 79,887,850 (GRCm39)	I124V	possibly damaging	Het
Cntnap2	A	T	6: 46,211,100 (GRCm39)	M505L	probably benign	Het
Cntnap4	T	A	8: 113,391,808 (GRCm39)	M91K	possibly damaging	Het
Cstad	A	G	2: 30,498,197 (GRCm39)	T11A	unknown	Het
Cyp2j6	A	T	4: 96,441,621 (GRCm39)	V23E	possibly damaging	Het
Dapk3	C	A	10: 81,028,594 (GRCm39)	T388K	unknown	Het
Dennd6a	G	A	14: 26,320,818 (GRCm39)	G120R	possibly damaging	Het
Disp1	A	C	1: 182,869,310 (GRCm39)	S1037A	probably damaging	Het
Dpcd	A	T	19: 45,560,881 (GRCm39)	Q103L	probably benign	Het
Egfem1	A	T	3: 29,716,532 (GRCm39)	D334V	probably damaging	Het
Egflam	C	T	15: 7,333,419 (GRCm39)	V178M	probably benign	Het
Ehbp1	T	C	11: 22,096,692 (GRCm39)	T291A	probably benign	Het
Eif5b	G	T	1: 38,084,729 (GRCm39)	V859F	probably damaging	Het
Fam161a	A	T	11: 22,973,495 (GRCm39)	Q459L	possibly damaging	Het
Fcgrt	A	C	7: 44,742,754 (GRCm39)	D342E	probably damaging	Het
Fchsd1	A	C	18: 38,102,425 (GRCm39)	D34E	probably benign	Het
Foxo4	G	A	X: 100,301,955 (GRCm39)	S209N	probably benign	Het
Galt	A	T	4: 41,758,185 (GRCm39)	M317L	possibly damaging	Het
Gfm1	A	G	3: 67,358,657 (GRCm39)	D416G	possibly damaging	Het
Glcci1	A	T	6: 8,573,278 (GRCm39)	I256L	probably benign	Het
Ibtk	C	T	9: 85,613,280 (GRCm39)	G228S	probably benign	Het
Ift70b	T	C	2: 75,768,261 (GRCm39)	Y164C	probably benign	Het
Il2rb	T	A	15: 78,372,399 (GRCm39)	D106V	probably benign	Het
Map3k6	A	T	4: 132,979,783 (GRCm39)	I1261F	probably damaging	Het
Mcm2	G	A	6: 88,868,729 (GRCm39)	Q343*	probably null	Het
Megf8	A	G	7: 25,058,133 (GRCm39)	T2136A	possibly damaging	Het
Mmp28	G	A	11: 83,342,283 (GRCm39)	T103I	probably benign	Het
Mtif2	G	A	11: 29,476,587 (GRCm39)		probably benign	Het
Mtus2	A	T	5: 148,013,311 (GRCm39)	T35S	possibly damaging	Het
Ncoa2	A	T	1: 13,245,192 (GRCm39)	I502N	probably benign	Het
Nek5	A	C	8: 22,573,479 (GRCm39)	D492E	probably benign	Het
Nin	T	C	12: 70,089,899 (GRCm39)	E1172G		Het
Nsmaf	T	A	4: 6,416,662 (GRCm39)	I544F	possibly damaging	Het
Oas3	T	C	5: 120,899,284 (GRCm39)	D763G	unknown	Het
Or2a20	G	A	6: 43,194,258 (GRCm39)	W137*	probably null	Het
Or4s2	T	A	2: 88,473,310 (GRCm39)	F66L	probably benign	Het
Or51r1	A	T	7: 102,227,861 (GRCm39)	D53V	probably damaging	Het
Or5al6	C	T	2: 85,976,251 (GRCm39)	V276M	probably damaging	Het
Or5aq1	T	A	2: 86,965,783 (GRCm39)	N294I	probably damaging	Het
Or5k15	A	T	16: 58,710,265 (GRCm39)	L106Q	probably damaging	Het
Or5t17	T	C	2: 86,832,487 (GRCm39)	V58A	probably benign	Het
Pcdh7	T	C	5: 57,879,622 (GRCm39)		probably null	Het
Pitx3	A	G	19: 46,124,660 (GRCm39)	S236P	possibly damaging	Het
Plscr5	T	A	9: 92,087,502 (GRCm39)	I157N	probably damaging	Het
Potefam1	T	C	2: 111,000,008 (GRCm39)	M201V	unknown	Het
Preb	T	C	5: 31,116,732 (GRCm39)	N54D	probably benign	Het
Pskh1	C	T	8: 106,656,404 (GRCm39)	A360V	possibly damaging	Het
Ptprk	T	C	10: 28,139,608 (GRCm39)	L111S	possibly damaging	Het
Reln	T	A	5: 22,152,525 (GRCm39)	I2314F	probably damaging	Het
Siglecg	A	G	7: 43,067,476 (GRCm39)	D681G	probably damaging	Het
Snx5	A	G	2: 144,096,716 (GRCm39)	V283A	probably benign	Het
Srpk2	C	A	5: 23,880,874 (GRCm39)		probably benign	Het
Tacr1	T	C	6: 82,469,619 (GRCm39)	Y168H	possibly damaging	Het
Tal1	G	T	4: 114,920,557 (GRCm39)	R77L	probably benign	Het
Tdrd12	T	C	7: 35,185,964 (GRCm39)		probably null	Het
Tdrd7	A	T	4: 45,994,310 (GRCm39)	N236I	possibly damaging	Het
Tdrd9	T	C	12: 112,009,130 (GRCm39)	F1012S	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tert	T	A	13: 73,784,609 (GRCm39)	L685Q	probably damaging	Het
Th	T	G	7: 142,448,851 (GRCm39)	D342A	probably damaging	Het
Tpsg1	G	T	17: 25,591,492 (GRCm39)	V31L	probably damaging	Het
Traf3ip1	C	G	1: 91,439,095 (GRCm39)	S337*	probably null	Het
Trpv6	A	G	6: 41,600,003 (GRCm39)	F551S	probably damaging	Het
Urah	A	G	7: 140,415,531 (GRCm39)	N23D	probably benign	Het
Vangl1	A	C	3: 102,072,669 (GRCm39)		probably null	Het
Zc3h6	A	G	2: 128,859,155 (GRCm39)	E1062G	probably benign	Het
Zfp37	A	T	4: 62,110,644 (GRCm39)	V181E	possibly damaging	Het
Zfp638	T	A	6: 83,921,795 (GRCm39)	S641T	probably benign	Het
Zkscan16	A	T	4: 58,957,473 (GRCm39)	H585L	possibly 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
R9245:Mast2	UTSW	4	116,167,701 (GRCm39)	missense	probably damaging	1.00
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
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'- TCCCTGTTGGCCTTACCTGAAG -3'
(R):5'- ATCTGGAGAGGGGTCATCTAGG -3'

Sequencing Primer
(F):5'- CTTACCTGAAGGAATGAGGAGG -3'
(R):5'- TTCCTGAACGACCGTTGGAGAG -3'

Posted On

2022-11-14