Mutagenetix > Incidental Mutation

Incidental Mutation 'R7664:Srrm2'

591823

Institutional Source

Beutler Lab

Gene Symbol

Srrm2

Ensembl Gene

ENSMUSG00000039218

Gene Name

serine/arginine repetitive matrix 2

Synonyms

5033413A03Rik, SRm300

MMRRC Submission

045704-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R7664 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24009506-24043715 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24039955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 2200 (S2200P)

Ref Sequence

ENSEMBL: ENSMUSP00000085993 (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: S2200P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000085993
Gene: ENSMUSG00000039218
AA Change: S2200P

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

probably benign
Transcript: ENSMUST00000186259

Predicted Effect

probably damaging
Transcript: ENSMUST00000190686
AA Change: S2296P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139842
Gene: ENSMUSG00000039218
AA Change: S2296P

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (83/84)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	C	T	11: 84,136,175 (GRCm39)	T510I	probably damaging	Het
Akap12	G	T	10: 4,303,748 (GRCm39)	W291L	probably damaging	Het
Akip1	A	T	7: 109,308,187 (GRCm39)	I152F	probably benign	Het
Alpk2	T	A	18: 65,440,073 (GRCm39)	Y440F	probably benign	Het
Aox3	A	G	1: 58,158,698 (GRCm39)	T90A	probably damaging	Het
Arhgef18	A	T	8: 3,436,390 (GRCm39)	E228V	probably damaging	Het
B4galnt4	A	G	7: 140,647,626 (GRCm39)	K405E	probably damaging	Het
BC034090	T	C	1: 155,117,377 (GRCm39)	E247G	probably damaging	Het
Camkk2	A	T	5: 122,894,645 (GRCm39)	F216I	unknown	Het
Carm1	A	C	9: 21,498,286 (GRCm39)	K430T	probably benign	Het
Ccdc13	A	G	9: 121,643,279 (GRCm39)	V374A	probably benign	Het
Cdh26	T	A	2: 178,111,835 (GRCm39)	M465K	probably benign	Het
Ceacam10	A	T	7: 24,477,757 (GRCm39)	M91L	probably benign	Het
Chrnb1	T	C	11: 69,677,850 (GRCm39)	T301A	possibly damaging	Het
Clec4a3	A	G	6: 122,943,381 (GRCm39)	D101G	probably benign	Het
Cmss1	G	A	16: 57,138,310 (GRCm39)	P59S	probably benign	Het
Crhr1	T	A	11: 104,059,968 (GRCm39)	F138L	probably benign	Het
Cxcl5	A	T	5: 90,907,890 (GRCm39)	I107F	probably damaging	Het
Cxcr1	A	G	1: 74,231,834 (GRCm39)	S63P	probably damaging	Het
Cxcr5	A	G	9: 44,424,607 (GRCm39)	L350P	probably benign	Het
D5Ertd579e	A	T	5: 36,771,961 (GRCm39)	H811Q	probably benign	Het
Ddx46	T	G	13: 55,806,864 (GRCm39)	I499S	probably damaging	Het
Ddx51	T	G	5: 110,804,785 (GRCm39)		probably null	Het
Dnaja1	C	T	4: 40,724,090 (GRCm39)	P84S	probably benign	Het
Dnajc27	A	G	12: 4,153,132 (GRCm39)	K203E	possibly damaging	Het
Fam107b	T	A	2: 3,571,747 (GRCm39)	C24S	probably damaging	Het
Fancg	T	C	4: 43,010,066 (GRCm39)	K11R	probably benign	Het
Fnip1	T	C	11: 54,356,951 (GRCm39)	L44P	probably damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Heca	A	T	10: 17,778,118 (GRCm39)	L493Q	probably damaging	Het
Hrh2	C	T	13: 54,368,875 (GRCm39)	P284S	probably damaging	Het
Ifnar1	C	G	16: 91,292,082 (GRCm39)	A141G	probably damaging	Het
Igkv6-32	T	A	6: 70,051,282 (GRCm39)	T25S	probably damaging	Het
Inppl1	T	C	7: 101,479,304 (GRCm39)	H525R	probably damaging	Het
Itga2b	A	G	11: 102,351,666 (GRCm39)	L553P	probably damaging	Het
Itgbl1	A	G	14: 124,083,962 (GRCm39)	Y280C	probably damaging	Het
Kap	T	C	6: 133,828,920 (GRCm39)	I54V	probably benign	Het
Kcnh4	G	T	11: 100,641,148 (GRCm39)	L434M	probably damaging	Het
Klhl14	T	C	18: 21,687,706 (GRCm39)	D572G	probably damaging	Het
Klhl41	T	A	2: 69,501,061 (GRCm39)	L174Q	probably damaging	Het
Lrp2	T	G	2: 69,337,076 (GRCm39)	H1232P	probably damaging	Het
Lyar	A	G	5: 38,388,161 (GRCm39)	E229G	probably benign	Het
Mark4	A	T	7: 19,177,151 (GRCm39)	L226Q	probably damaging	Het
Mcm8	A	G	2: 132,685,453 (GRCm39)	K823R	probably damaging	Het
Mfsd6	A	T	1: 52,748,212 (GRCm39)	S218T	probably benign	Het
Mlip	A	T	9: 77,045,828 (GRCm39)	I884N	possibly damaging	Het
Mmrn1	A	G	6: 60,953,689 (GRCm39)	T657A	probably benign	Het
Morc2b	A	G	17: 33,355,376 (GRCm39)	Y799H	probably benign	Het
Muc16	A	T	9: 18,519,018 (GRCm39)	I6304N	probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Naaladl2	T	C	3: 24,112,303 (GRCm39)	Y593C	probably damaging	Het
Ncor1	T	C	11: 62,289,154 (GRCm39)	E341G	probably damaging	Het
Nrg1	G	T	8: 32,499,169 (GRCm39)		probably null	Het
Nudt3	A	G	17: 27,842,149 (GRCm39)	L4P	probably benign	Het
Odf2l	T	A	3: 144,854,345 (GRCm39)	H493Q	probably benign	Het
Ost4	A	C	5: 31,065,007 (GRCm39)		probably null	Het
Patj	A	T	4: 98,385,187 (GRCm39)	Q840L	possibly damaging	Het
Pcdh20	T	A	14: 88,706,803 (GRCm39)	T166S	probably benign	Het
Pcdhb4	T	A	18: 37,442,293 (GRCm39)	D534E	probably damaging	Het
Pik3ap1	T	C	19: 41,310,069 (GRCm39)	D417G	possibly damaging	Het
Ppwd1	A	T	13: 104,356,798 (GRCm39)	V239E	probably damaging	Het
Prdm9	T	A	17: 15,775,833 (GRCm39)	Y206F	probably damaging	Het
Ranbp6	A	G	19: 29,789,476 (GRCm39)	V292A	possibly damaging	Het
Rgs21	T	A	1: 144,416,987 (GRCm39)	M22L	probably benign	Het
Rnf17	A	T	14: 56,676,335 (GRCm39)	I399F	probably damaging	Het
Rph3a	T	A	5: 121,099,339 (GRCm39)	Q184L	probably benign	Het
Scrn3	T	C	2: 73,149,714 (GRCm39)	Y137H	possibly damaging	Het
Sec14l4	C	A	11: 3,994,178 (GRCm39)	Y342*	probably null	Het
Serpinb11	G	A	1: 107,307,718 (GRCm39)	G383D	probably damaging	Het
Sf3b1	A	G	1: 55,026,626 (GRCm39)	V1261A	probably damaging	Het
Sh3tc2	C	T	18: 62,148,042 (GRCm39)	Q1251*	probably null	Het
Skor1	A	T	9: 63,049,045 (GRCm39)	D845E	probably benign	Het
Slc39a7	A	G	17: 34,248,551 (GRCm39)	L364P	probably damaging	Het
Snrpn	T	C	7: 59,637,239 (GRCm39)	I26V	probably benign	Het
Snx5	A	T	2: 144,099,924 (GRCm39)		probably null	Het
Spag9	T	C	11: 93,992,986 (GRCm39)		probably null	Het
Stx11	T	C	10: 12,817,070 (GRCm39)	E218G	probably damaging	Het
Tmem151b	T	C	17: 45,856,861 (GRCm39)	N193S	probably damaging	Het
Tmem87b	A	T	2: 128,690,974 (GRCm39)	D525V	possibly damaging	Het
Ubtfl1	A	T	9: 18,320,782 (GRCm39)	R103S	possibly damaging	Het
Vmn1r196	T	A	13: 22,477,932 (GRCm39)	D190E	probably damaging	Het
Vmn2r67	T	A	7: 84,805,019 (GRCm39)	D31V	probably benign	Het
Zbtb22	T	A	17: 34,137,553 (GRCm39)	M566K	probably benign	Het
Zfp568	A	T	7: 29,721,715 (GRCm39)	H220L	probably benign	Het
Zfp974	A	T	7: 27,610,137 (GRCm39)	S529R	possibly damaging	Het

Other mutations in Srrm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Srrm2	APN	17	24,031,452 (GRCm39)	missense	probably benign	0.23
IGL00484:Srrm2	APN	17	24,037,492 (GRCm39)	missense	probably benign	0.23
IGL01413:Srrm2	APN	17	24,034,999 (GRCm39)	unclassified	probably benign
IGL02272:Srrm2	APN	17	24,034,756 (GRCm39)	unclassified	probably benign
IGL02279:Srrm2	APN	17	24,034,306 (GRCm39)	unclassified	probably benign
IGL02325:Srrm2	APN	17	24,029,453 (GRCm39)	unclassified	probably benign
IGL02947:Srrm2	APN	17	24,029,720 (GRCm39)	missense	probably benign	0.23
IGL03002:Srrm2	APN	17	24,034,708 (GRCm39)	unclassified	probably benign
BB009:Srrm2	UTSW	17	24,037,501 (GRCm39)	missense	probably benign	0.23
BB019:Srrm2	UTSW	17	24,037,501 (GRCm39)	missense	probably benign	0.23
R0173:Srrm2	UTSW	17	24,034,103 (GRCm39)	unclassified	probably benign
R1018:Srrm2	UTSW	17	24,041,514 (GRCm39)	missense	probably damaging	0.98
R1109:Srrm2	UTSW	17	24,038,591 (GRCm39)	unclassified	probably benign
R1199:Srrm2	UTSW	17	24,036,725 (GRCm39)	unclassified	probably benign
R1471:Srrm2	UTSW	17	24,039,770 (GRCm39)	missense	probably damaging	1.00
R1478:Srrm2	UTSW	17	24,034,876 (GRCm39)	missense	probably benign	0.23
R1618:Srrm2	UTSW	17	24,037,906 (GRCm39)	unclassified	probably benign
R1678:Srrm2	UTSW	17	24,037,960 (GRCm39)	missense	probably benign	0.23
R1853:Srrm2	UTSW	17	24,039,499 (GRCm39)	missense	probably damaging	1.00
R1968:Srrm2	UTSW	17	24,040,465 (GRCm39)	missense	probably damaging	1.00
R2094:Srrm2	UTSW	17	24,031,403 (GRCm39)	unclassified	probably benign
R2102:Srrm2	UTSW	17	24,036,722 (GRCm39)	unclassified	probably benign
R2156:Srrm2	UTSW	17	24,037,237 (GRCm39)	missense	probably benign	0.23
R2214:Srrm2	UTSW	17	24,035,719 (GRCm39)	unclassified	probably benign
R2913:Srrm2	UTSW	17	24,034,658 (GRCm39)	unclassified	probably benign
R3721:Srrm2	UTSW	17	24,041,549 (GRCm39)	small deletion	probably benign
R4411:Srrm2	UTSW	17	24,029,442 (GRCm39)	unclassified	probably benign
R4412:Srrm2	UTSW	17	24,029,442 (GRCm39)	unclassified	probably benign
R4413:Srrm2	UTSW	17	24,029,442 (GRCm39)	unclassified	probably benign
R4583:Srrm2	UTSW	17	24,038,593 (GRCm39)	unclassified	probably benign
R4682:Srrm2	UTSW	17	24,034,666 (GRCm39)	missense	probably benign	0.23
R4910:Srrm2	UTSW	17	24,034,362 (GRCm39)	unclassified	probably benign
R4943:Srrm2	UTSW	17	24,041,389 (GRCm39)	missense	possibly damaging	0.94
R5023:Srrm2	UTSW	17	24,038,291 (GRCm39)	unclassified	probably benign
R5033:Srrm2	UTSW	17	24,039,592 (GRCm39)	missense	probably damaging	1.00
R5163:Srrm2	UTSW	17	24,038,524 (GRCm39)	unclassified	probably benign
R5186:Srrm2	UTSW	17	24,035,561 (GRCm39)	missense	probably benign	0.23
R5197:Srrm2	UTSW	17	24,036,358 (GRCm39)	missense	probably benign	0.23
R5366:Srrm2	UTSW	17	24,037,678 (GRCm39)	missense	probably benign	0.23
R5483:Srrm2	UTSW	17	24,040,246 (GRCm39)	missense	probably damaging	0.96
R5551:Srrm2	UTSW	17	24,037,450 (GRCm39)	unclassified	probably benign
R5602:Srrm2	UTSW	17	24,038,311 (GRCm39)	unclassified	probably benign
R5733:Srrm2	UTSW	17	24,040,360 (GRCm39)	missense	probably damaging	0.98
R5774:Srrm2	UTSW	17	24,037,249 (GRCm39)	unclassified	probably benign
R5909:Srrm2	UTSW	17	24,040,291 (GRCm39)	missense	probably benign	0.27
R5961:Srrm2	UTSW	17	24,039,083 (GRCm39)	unclassified	probably benign
R6122:Srrm2	UTSW	17	24,039,330 (GRCm39)	missense	possibly damaging	0.58
R6906:Srrm2	UTSW	17	24,039,337 (GRCm39)	missense	probably damaging	0.97
R7084:Srrm2	UTSW	17	24,039,290 (GRCm39)	missense	probably damaging	0.99
R7177:Srrm2	UTSW	17	24,035,747 (GRCm39)	missense	unknown
R7197:Srrm2	UTSW	17	24,037,198 (GRCm39)	missense	unknown
R7442:Srrm2	UTSW	17	24,039,091 (GRCm39)	missense	unknown
R7644:Srrm2	UTSW	17	24,038,294 (GRCm39)	missense	unknown
R7874:Srrm2	UTSW	17	24,034,652 (GRCm39)	missense	unknown
R7932:Srrm2	UTSW	17	24,037,501 (GRCm39)	missense	probably benign	0.23
R7950:Srrm2	UTSW	17	24,027,084 (GRCm39)	missense	unknown
R7958:Srrm2	UTSW	17	24,040,286 (GRCm39)	missense	probably benign	0.25
R8081:Srrm2	UTSW	17	24,039,219 (GRCm39)	missense	probably damaging	1.00
R8118:Srrm2	UTSW	17	24,027,057 (GRCm39)	missense	unknown
R8174:Srrm2	UTSW	17	24,034,297 (GRCm39)	missense	unknown
R8191:Srrm2	UTSW	17	24,039,219 (GRCm39)	missense	probably damaging	1.00
R8334:Srrm2	UTSW	17	24,027,330 (GRCm39)	missense	unknown
R8523:Srrm2	UTSW	17	24,027,489 (GRCm39)	unclassified	probably benign
R8728:Srrm2	UTSW	17	24,038,831 (GRCm39)	missense	unknown
R8912:Srrm2	UTSW	17	24,038,575 (GRCm39)	missense	probably benign	0.23
R9209:Srrm2	UTSW	17	24,039,880 (GRCm39)	missense	probably benign	0.05
RF006:Srrm2	UTSW	17	24,031,562 (GRCm39)	missense	unknown
Z1176:Srrm2	UTSW	17	24,036,157 (GRCm39)	missense	unknown
Z1177:Srrm2	UTSW	17	24,036,484 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCTATGAACTTAGCCAGCC -3'
(R):5'- GTGAGGTTCTGCCACTAACAC -3'

Sequencing Primer
(F):5'- AGCTGTGAACCTTGCAGATC -3'
(R):5'- GGTTCTGCCACTAACACGATCATAAG -3'

Posted On

2019-11-12