Mutagenetix > Incidental Mutation

Incidental Mutation 'R1471:Srrm2'

164935

Institutional Source

Beutler Lab

Gene Symbol

Srrm2

Ensembl Gene

ENSMUSG00000039218

Gene Name

serine/arginine repetitive matrix 2

Synonyms

5033413A03Rik, SRm300

MMRRC Submission

039524-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.952) question?

Stock #

R1471 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23790662-23824741 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23820796 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 2234 (V2234E)

Ref Sequence

ENSEMBL: ENSMUSP00000139842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069579] [ENSMUST00000088621] [ENSMUST00000190686]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000069579

SMART Domains

Protein: ENSMUSP00000066210
Gene: ENSMUSG00000055839

Domain	Start	End	E-Value	Type
UBQ	3	80	5.1e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000088621
AA Change: V2138E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085993
Gene: ENSMUSG00000039218
AA Change: V2138E

Domain	Start	End	E-Value	Type
low complexity region	82	157	N/A	INTRINSIC
low complexity region	161	188	N/A	INTRINSIC
low complexity region	223	238	N/A	INTRINSIC
internal_repeat_4	248	305	2.93e-5	PROSPERO
internal_repeat_5	259	388	2.93e-5	PROSPERO
low complexity region	407	423	N/A	INTRINSIC
CTD	464	584	5.25e-14	SMART
low complexity region	652	682	N/A	INTRINSIC
low complexity region	689	721	N/A	INTRINSIC
internal_repeat_6	732	778	4.88e-5	PROSPERO
low complexity region	779	795	N/A	INTRINSIC
low complexity region	802	824	N/A	INTRINSIC
low complexity region	839	853	N/A	INTRINSIC
internal_repeat_2	859	1124	6.34e-6	PROSPERO
internal_repeat_1	1055	1183	3.81e-6	PROSPERO
internal_repeat_4	1113	1166	2.93e-5	PROSPERO
internal_repeat_6	1169	1213	4.88e-5	PROSPERO
low complexity region	1236	1244	N/A	INTRINSIC
low complexity region	1275	1286	N/A	INTRINSIC
low complexity region	1290	1312	N/A	INTRINSIC
internal_repeat_2	1313	1485	6.34e-6	PROSPERO
low complexity region	1493	1525	N/A	INTRINSIC
low complexity region	1545	1555	N/A	INTRINSIC
low complexity region	1559	1720	N/A	INTRINSIC
low complexity region	1734	1919	N/A	INTRINSIC
low complexity region	1926	1951	N/A	INTRINSIC
low complexity region	1966	1980	N/A	INTRINSIC
low complexity region	2079	2105	N/A	INTRINSIC
internal_repeat_3	2107	2118	1.06e-5	PROSPERO
internal_repeat_3	2135	2146	1.06e-5	PROSPERO
low complexity region	2153	2172	N/A	INTRINSIC
internal_repeat_5	2182	2320	2.93e-5	PROSPERO
internal_repeat_1	2224	2368	3.81e-6	PROSPERO
low complexity region	2390	2425	N/A	INTRINSIC
low complexity region	2518	2539	N/A	INTRINSIC
low complexity region	2541	2550	N/A	INTRINSIC
low complexity region	2552	2571	N/A	INTRINSIC
low complexity region	2594	2607	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175240

Predicted Effect

probably benign
Transcript: ENSMUST00000186259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186914

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190568

Predicted Effect

probably damaging
Transcript: ENSMUST00000190686
AA Change: V2234E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139842
Gene: ENSMUSG00000039218
AA Change: V2234E

Domain	Start	End	E-Value	Type
Pfam:cwf21	58	102	1.5e-13	PFAM
low complexity region	178	253	N/A	INTRINSIC
low complexity region	257	284	N/A	INTRINSIC
low complexity region	319	334	N/A	INTRINSIC
internal_repeat_4	344	401	3.07e-5	PROSPERO
internal_repeat_5	355	484	3.07e-5	PROSPERO
low complexity region	503	519	N/A	INTRINSIC
CTD	560	680	5.25e-14	SMART
low complexity region	748	778	N/A	INTRINSIC
low complexity region	785	817	N/A	INTRINSIC
internal_repeat_6	828	874	5.11e-5	PROSPERO
low complexity region	875	891	N/A	INTRINSIC
low complexity region	898	920	N/A	INTRINSIC
low complexity region	935	949	N/A	INTRINSIC
internal_repeat_2	955	1220	6.62e-6	PROSPERO
internal_repeat_1	1151	1279	3.97e-6	PROSPERO
internal_repeat_4	1209	1262	3.07e-5	PROSPERO
internal_repeat_6	1265	1309	5.11e-5	PROSPERO
low complexity region	1332	1340	N/A	INTRINSIC
low complexity region	1371	1382	N/A	INTRINSIC
low complexity region	1386	1408	N/A	INTRINSIC
internal_repeat_2	1409	1581	6.62e-6	PROSPERO
low complexity region	1589	1621	N/A	INTRINSIC
low complexity region	1641	1651	N/A	INTRINSIC
low complexity region	1655	1816	N/A	INTRINSIC
low complexity region	1830	2015	N/A	INTRINSIC
low complexity region	2022	2047	N/A	INTRINSIC
low complexity region	2062	2076	N/A	INTRINSIC
low complexity region	2175	2201	N/A	INTRINSIC
internal_repeat_3	2203	2214	1.1e-5	PROSPERO
internal_repeat_3	2231	2242	1.1e-5	PROSPERO
low complexity region	2249	2268	N/A	INTRINSIC
internal_repeat_5	2278	2416	3.07e-5	PROSPERO
internal_repeat_1	2320	2464	3.97e-6	PROSPERO
low complexity region	2486	2521	N/A	INTRINSIC
low complexity region	2614	2635	N/A	INTRINSIC
low complexity region	2637	2646	N/A	INTRINSIC
low complexity region	2648	2667	N/A	INTRINSIC
low complexity region	2690	2703	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.8%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,615,222 (GRCm38)	M255K	probably damaging	Het
4930486L24Rik	C	A	13: 60,853,522 (GRCm38)	K130N	probably damaging	Het
Adam6a	T	A	12: 113,544,393 (GRCm38)	S129T	probably damaging	Het
Adamts10	T	A	17: 33,553,138 (GRCm38)	F1087I	probably damaging	Het
Afp	T	A	5: 90,503,682 (GRCm38)	N385K	possibly damaging	Het
Ahnak	T	G	19: 9,012,932 (GRCm38)		probably benign	Het
Akap6	A	G	12: 53,141,496 (GRCm38)	T1898A	probably benign	Het
Antxr2	C	A	5: 97,975,340 (GRCm38)	V283F	possibly damaging	Het
Asgr1	T	C	11: 70,056,093 (GRCm38)	V55A	possibly damaging	Het
Asxl3	A	G	18: 22,516,354 (GRCm38)	K467E	probably damaging	Het
Atp5a1	C	A	18: 77,781,269 (GRCm38)	Q398K	probably damaging	Het
Atxn2	T	A	5: 121,786,374 (GRCm38)	D455E	probably damaging	Het
B4galt6	C	T	18: 20,745,353 (GRCm38)	A39T	possibly damaging	Het
C130073F10Rik	C	T	4: 101,890,338 (GRCm38)	E165K	probably benign	Het
Cabin1	A	G	10: 75,694,792 (GRCm38)	C1519R	probably damaging	Het
Casp8ap2	C	T	4: 32,639,386 (GRCm38)	R147*	probably null	Het
Ccdc88b	A	G	19: 6,854,023 (GRCm38)	L517P	probably benign	Het
Cd109	G	A	9: 78,654,587 (GRCm38)	V220I	probably damaging	Het
Cd2ap	T	C	17: 42,820,597 (GRCm38)	K369R	probably benign	Het
Cd300c	A	G	11: 114,959,788 (GRCm38)	V63A	probably benign	Het
Cnot10	A	G	9: 114,591,551 (GRCm38)	V741A	probably benign	Het
Col18a1	G	T	10: 77,096,206 (GRCm38)	Q350K	unknown	Het
Crnkl1	T	C	2: 145,932,316 (GRCm38)	K76E	possibly damaging	Het
Cryzl2	A	G	1: 157,470,721 (GRCm38)	K227E	probably benign	Het
Cts6	G	A	13: 61,196,380 (GRCm38)	T286I	probably benign	Het
Cul1	T	C	6: 47,514,886 (GRCm38)	V392A	probably damaging	Het
Dcaf7	T	A	11: 106,046,747 (GRCm38)	F65L	probably benign	Het
Dgke	A	C	11: 89,055,494 (GRCm38)	V160G	possibly damaging	Het
Dock8	C	A	19: 25,201,036 (GRCm38)	Q2098K	possibly damaging	Het
Efhb	T	A	17: 53,399,112 (GRCm38)	D799V	possibly damaging	Het
Ephb2	T	C	4: 136,658,951 (GRCm38)	D829G	probably benign	Het
Exosc1	A	T	19: 41,924,718 (GRCm38)	S117R	probably damaging	Het
Fga	T	C	3: 83,028,618 (GRCm38)	S51P	probably benign	Het
Fmn1	T	C	2: 113,693,094 (GRCm38)	F1141L	possibly damaging	Het
Foxm1	C	T	6: 128,373,874 (GRCm38)	L713F	probably damaging	Het
Galnt4	A	G	10: 99,108,674 (GRCm38)	E87G	probably benign	Het
Gamt	T	C	10: 80,260,858 (GRCm38)	D15G	probably benign	Het
Gm13101	T	C	4: 143,964,953 (GRCm38)	N400S	probably benign	Het
Gm15557	C	A	2: 155,942,254 (GRCm38)	D154E	possibly damaging	Het
Gnptab	A	G	10: 88,445,763 (GRCm38)	I1211V	probably benign	Het
Greb1	A	T	12: 16,711,774 (GRCm38)	M535K	probably damaging	Het
Grm8	C	A	6: 27,363,309 (GRCm38)	A736S	possibly damaging	Het
Hspa14	T	C	2: 3,491,608 (GRCm38)	I373M	probably benign	Het
Ifi207	T	A	1: 173,730,063 (GRCm38)	T370S	unknown	Het
Igf1r	A	G	7: 68,003,837 (GRCm38)	N41S	probably damaging	Het
Ikzf5	A	T	7: 131,391,767 (GRCm38)	V224D	probably damaging	Het
Il10	C	A	1: 131,021,373 (GRCm38)	Y90*	probably null	Het
Itga4	A	G	2: 79,287,032 (GRCm38)	D394G	probably benign	Het
Kif21a	A	T	15: 90,956,419 (GRCm38)	S1165T	probably benign	Het
Krtap14	A	G	16: 88,825,627 (GRCm38)	S155P	probably damaging	Het
Loxl2	A	G	14: 69,693,097 (GRCm38)	N770S	probably benign	Het
Man2b1	A	G	8: 85,086,845 (GRCm38)	D222G	probably damaging	Het
Mcub	T	A	3: 129,915,815 (GRCm38)	Y283F	probably damaging	Het
Meis3	T	A	7: 16,177,571 (GRCm38)	Y64*	probably null	Het
Mfsd6	T	A	1: 52,709,557 (GRCm38)	I50F	probably benign	Het
Micu2	T	C	14: 57,945,397 (GRCm38)	T165A	probably damaging	Het
Mtcl1	T	C	17: 66,379,148 (GRCm38)	E921G	probably damaging	Het
Muc5b	A	T	7: 141,843,234 (GRCm38)	N215Y	unknown	Het
Muc6	A	G	7: 141,647,909 (GRCm38)	F772L	possibly damaging	Het
Myt1	A	G	2: 181,797,111 (GRCm38)	D142G	probably benign	Het
Nol6	C	T	4: 41,120,281 (GRCm38)	V479I	probably benign	Het
Nsun7	A	G	5: 66,284,229 (GRCm38)	K414E	probably benign	Het
Nup210l	A	C	3: 90,170,562 (GRCm38)	I914L	probably benign	Het
Obox3	G	A	7: 15,626,950 (GRCm38)	P88L	probably benign	Het
Olfr1098	C	T	2: 86,922,578 (GRCm38)		probably null	Het
Olfr1122	A	G	2: 87,388,518 (GRCm38)	Y271C	probably damaging	Het
Olfr1132	T	C	2: 87,635,670 (GRCm38)	T26A	probably benign	Het
Olfr1289	T	C	2: 111,484,006 (GRCm38)	L192P	probably damaging	Het
Pclo	T	C	5: 14,680,427 (GRCm38)		probably benign	Het
Pcsk5	T	C	19: 17,568,324 (GRCm38)	N745D	probably damaging	Het
Pdzrn3	T	A	6: 101,151,512 (GRCm38)	N731I	possibly damaging	Het
Pkdrej	T	A	15: 85,817,133 (GRCm38)	Q1534L	probably benign	Het
Rell1	T	A	5: 63,936,085 (GRCm38)	D109V	probably damaging	Het
Rplp0	C	T	5: 115,563,344 (GRCm38)	T285I	probably damaging	Het
Sema3g	C	T	14: 31,228,045 (GRCm38)	R728C	probably damaging	Het
Slc15a2	A	G	16: 36,753,791 (GRCm38)	Y536H	probably damaging	Het
Slc26a5	T	A	5: 21,816,964 (GRCm38)	Y488F	probably benign	Het
Slc5a4a	A	T	10: 76,186,528 (GRCm38)	S566C	probably damaging	Het
Spink7	C	T	18: 62,596,204 (GRCm38)	E21K	possibly damaging	Het
Src	C	T	2: 157,457,187 (GRCm38)	Q35*	probably null	Het
Stk36	A	T	1: 74,611,155 (GRCm38)	Q282L	probably benign	Het
Tas2r118	T	G	6: 23,969,171 (GRCm38)	E297A	probably damaging	Het
Terf1	A	G	1: 15,842,970 (GRCm38)	Y385C	probably damaging	Het
Tmc3	T	C	7: 83,598,290 (GRCm38)	S198P	probably damaging	Het
Tmprss11b	C	T	5: 86,660,496 (GRCm38)	R407H	possibly damaging	Het
Tspyl4	G	A	10: 34,298,111 (GRCm38)	E200K	probably damaging	Het
Ttc21a	T	C	9: 119,942,641 (GRCm38)	Y169H	probably damaging	Het
Ugt2b36	C	T	5: 87,092,071 (GRCm38)	D152N	probably damaging	Het
Unk	T	C	11: 116,049,409 (GRCm38)	I196T	probably benign	Het
Uroc1	T	G	6: 90,344,171 (GRCm38)	V243G	probably damaging	Het
Usp34	C	A	11: 23,488,862 (GRCm38)	Q3475K	probably benign	Het
Vmn2r117	T	A	17: 23,478,473 (GRCm38)	I82L	probably benign	Het
Vmn2r44	A	T	7: 8,377,883 (GRCm38)	V337E	probably damaging	Het
Zbtb14	C	A	17: 69,388,502 (GRCm38)	F398L	probably damaging	Het
Zfp362	T	C	4: 128,787,200 (GRCm38)	T111A	probably benign	Het
Zfp598	T	C	17: 24,680,072 (GRCm38)	V615A	probably benign	Het

Other mutations in Srrm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Srrm2	APN	17	23,812,478 (GRCm38)	missense	probably benign	0.23
IGL00484:Srrm2	APN	17	23,818,518 (GRCm38)	missense	probably benign	0.23
IGL01413:Srrm2	APN	17	23,816,025 (GRCm38)	unclassified	probably benign
IGL02272:Srrm2	APN	17	23,815,782 (GRCm38)	unclassified	probably benign
IGL02279:Srrm2	APN	17	23,815,332 (GRCm38)	unclassified	probably benign
IGL02325:Srrm2	APN	17	23,810,479 (GRCm38)	unclassified	probably benign
IGL02947:Srrm2	APN	17	23,810,746 (GRCm38)	missense	probably benign	0.23
IGL03002:Srrm2	APN	17	23,815,734 (GRCm38)	unclassified	probably benign
BB009:Srrm2	UTSW	17	23,818,527 (GRCm38)	missense	probably benign	0.23
BB019:Srrm2	UTSW	17	23,818,527 (GRCm38)	missense	probably benign	0.23
R0173:Srrm2	UTSW	17	23,815,129 (GRCm38)	unclassified	probably benign
R1018:Srrm2	UTSW	17	23,822,540 (GRCm38)	missense	probably damaging	0.98
R1109:Srrm2	UTSW	17	23,819,617 (GRCm38)	unclassified	probably benign
R1199:Srrm2	UTSW	17	23,817,751 (GRCm38)	unclassified	probably benign
R1478:Srrm2	UTSW	17	23,815,902 (GRCm38)	missense	probably benign	0.23
R1618:Srrm2	UTSW	17	23,818,932 (GRCm38)	unclassified	probably benign
R1678:Srrm2	UTSW	17	23,818,986 (GRCm38)	missense	probably benign	0.23
R1853:Srrm2	UTSW	17	23,820,525 (GRCm38)	missense	probably damaging	1.00
R1968:Srrm2	UTSW	17	23,821,491 (GRCm38)	missense	probably damaging	1.00
R2094:Srrm2	UTSW	17	23,812,429 (GRCm38)	unclassified	probably benign
R2102:Srrm2	UTSW	17	23,817,748 (GRCm38)	unclassified	probably benign
R2156:Srrm2	UTSW	17	23,818,263 (GRCm38)	missense	probably benign	0.23
R2214:Srrm2	UTSW	17	23,816,745 (GRCm38)	unclassified	probably benign
R2913:Srrm2	UTSW	17	23,815,684 (GRCm38)	unclassified	probably benign
R3721:Srrm2	UTSW	17	23,822,575 (GRCm38)	small deletion	probably benign
R4411:Srrm2	UTSW	17	23,810,468 (GRCm38)	unclassified	probably benign
R4412:Srrm2	UTSW	17	23,810,468 (GRCm38)	unclassified	probably benign
R4413:Srrm2	UTSW	17	23,810,468 (GRCm38)	unclassified	probably benign
R4583:Srrm2	UTSW	17	23,819,619 (GRCm38)	unclassified	probably benign
R4682:Srrm2	UTSW	17	23,815,692 (GRCm38)	missense	probably benign	0.23
R4910:Srrm2	UTSW	17	23,815,388 (GRCm38)	unclassified	probably benign
R4943:Srrm2	UTSW	17	23,822,415 (GRCm38)	missense	possibly damaging	0.94
R5023:Srrm2	UTSW	17	23,819,317 (GRCm38)	unclassified	probably benign
R5033:Srrm2	UTSW	17	23,820,618 (GRCm38)	missense	probably damaging	1.00
R5163:Srrm2	UTSW	17	23,819,550 (GRCm38)	unclassified	probably benign
R5186:Srrm2	UTSW	17	23,816,587 (GRCm38)	missense	probably benign	0.23
R5197:Srrm2	UTSW	17	23,817,384 (GRCm38)	missense	probably benign	0.23
R5366:Srrm2	UTSW	17	23,818,704 (GRCm38)	missense	probably benign	0.23
R5483:Srrm2	UTSW	17	23,821,272 (GRCm38)	missense	probably damaging	0.96
R5551:Srrm2	UTSW	17	23,818,476 (GRCm38)	unclassified	probably benign
R5602:Srrm2	UTSW	17	23,819,337 (GRCm38)	unclassified	probably benign
R5733:Srrm2	UTSW	17	23,821,386 (GRCm38)	missense	probably damaging	0.98
R5774:Srrm2	UTSW	17	23,818,275 (GRCm38)	unclassified	probably benign
R5909:Srrm2	UTSW	17	23,821,317 (GRCm38)	missense	probably benign	0.27
R5961:Srrm2	UTSW	17	23,820,109 (GRCm38)	unclassified	probably benign
R6122:Srrm2	UTSW	17	23,820,356 (GRCm38)	missense	possibly damaging	0.58
R6906:Srrm2	UTSW	17	23,820,363 (GRCm38)	missense	probably damaging	0.97
R7084:Srrm2	UTSW	17	23,820,316 (GRCm38)	missense	probably damaging	0.99
R7177:Srrm2	UTSW	17	23,816,773 (GRCm38)	missense	unknown
R7197:Srrm2	UTSW	17	23,818,224 (GRCm38)	missense	unknown
R7442:Srrm2	UTSW	17	23,820,117 (GRCm38)	missense	unknown
R7644:Srrm2	UTSW	17	23,819,320 (GRCm38)	missense	unknown
R7664:Srrm2	UTSW	17	23,820,981 (GRCm38)	missense	probably damaging	0.99
R7874:Srrm2	UTSW	17	23,815,678 (GRCm38)	missense	unknown
R7932:Srrm2	UTSW	17	23,818,527 (GRCm38)	missense	probably benign	0.23
R7950:Srrm2	UTSW	17	23,808,110 (GRCm38)	missense	unknown
R7958:Srrm2	UTSW	17	23,821,312 (GRCm38)	missense	probably benign	0.25
R8081:Srrm2	UTSW	17	23,820,245 (GRCm38)	missense	probably damaging	1.00
R8118:Srrm2	UTSW	17	23,808,083 (GRCm38)	missense	unknown
R8174:Srrm2	UTSW	17	23,815,323 (GRCm38)	missense	unknown
R8191:Srrm2	UTSW	17	23,820,245 (GRCm38)	missense	probably damaging	1.00
R8334:Srrm2	UTSW	17	23,808,356 (GRCm38)	missense	unknown
R8523:Srrm2	UTSW	17	23,808,515 (GRCm38)	unclassified	probably benign
R8728:Srrm2	UTSW	17	23,819,857 (GRCm38)	missense	unknown
R8912:Srrm2	UTSW	17	23,819,601 (GRCm38)	missense	probably benign	0.23
R9209:Srrm2	UTSW	17	23,820,906 (GRCm38)	missense	probably benign	0.05
RF006:Srrm2	UTSW	17	23,812,588 (GRCm38)	missense	unknown
Z1176:Srrm2	UTSW	17	23,817,183 (GRCm38)	missense	unknown
Z1177:Srrm2	UTSW	17	23,817,510 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGCTGGCCTTGCTGCAAGAATG -3'
(R):5'- ACAATGCTGGAGCCATCCTGGAAC -3'

Sequencing Primer
(F):5'- TTGCTGCAAGAATGTCCCAG -3'
(R):5'- ATATTCACAGGAGCTGTGCC -3'

Posted On

2014-03-28