Mutagenetix > Incidental Mutation

Incidental Mutation 'R5994:Prrc2c'

482119

Institutional Source

Beutler Lab

Gene Symbol

Prrc2c

Ensembl Gene

ENSMUSG00000040225

Gene Name

proline-rich coiled-coil 2C

Synonyms

9630039I18Rik, 1810043M20Rik, Bat2d, Bat2l2

MMRRC Submission

044173-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.451) question?

Stock #

R5994 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

162670725-162740556 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 162674156 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028016] [ENSMUST00000182149] [ENSMUST00000182393] [ENSMUST00000182593] [ENSMUST00000182660] [ENSMUST00000183223]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028016

SMART Domains

Protein: ENSMUSP00000028016
Gene: ENSMUSG00000040225

Domain	Start	End	E-Value	Type
Pfam:BAT2_N	1	164	7.7e-56	PFAM
internal_repeat_2	167	349	4.39e-5	PROSPERO
internal_repeat_1	336	391	2.14e-5	PROSPERO
low complexity region	407	414	N/A	INTRINSIC
SCOP:d1eq1a_	447	591	2e-5	SMART
low complexity region	649	669	N/A	INTRINSIC
low complexity region	733	745	N/A	INTRINSIC
coiled coil region	996	1026	N/A	INTRINSIC
low complexity region	1157	1186	N/A	INTRINSIC
low complexity region	1212	1222	N/A	INTRINSIC
internal_repeat_1	1240	1295	2.14e-5	PROSPERO
low complexity region	1308	1335	N/A	INTRINSIC
low complexity region	1388	1409	N/A	INTRINSIC
low complexity region	1715	1746	N/A	INTRINSIC
low complexity region	1765	1803	N/A	INTRINSIC
low complexity region	1815	1832	N/A	INTRINSIC
low complexity region	1844	1909	N/A	INTRINSIC
internal_repeat_2	1962	2148	4.39e-5	PROSPERO
low complexity region	2163	2177	N/A	INTRINSIC
low complexity region	2230	2252	N/A	INTRINSIC
low complexity region	2272	2286	N/A	INTRINSIC
low complexity region	2321	2338	N/A	INTRINSIC
low complexity region	2427	2438	N/A	INTRINSIC
low complexity region	2553	2576	N/A	INTRINSIC
low complexity region	2811	2828	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000182149

SMART Domains

Protein: ENSMUSP00000138548
Gene: ENSMUSG00000040225

Domain	Start	End	E-Value	Type
Pfam:BAT2_N	1	167	5.6e-73	PFAM
internal_repeat_1	336	391	1.49e-5	PROSPERO
low complexity region	407	414	N/A	INTRINSIC
SCOP:d1eq1a_	447	591	2e-5	SMART
low complexity region	649	669	N/A	INTRINSIC
low complexity region	733	745	N/A	INTRINSIC
internal_repeat_3	754	925	9.16e-5	PROSPERO
coiled coil region	996	1026	N/A	INTRINSIC
low complexity region	1157	1186	N/A	INTRINSIC
low complexity region	1212	1222	N/A	INTRINSIC
internal_repeat_1	1240	1295	1.49e-5	PROSPERO
low complexity region	1308	1335	N/A	INTRINSIC
low complexity region	1388	1409	N/A	INTRINSIC
low complexity region	1715	1746	N/A	INTRINSIC
low complexity region	1765	1803	N/A	INTRINSIC
low complexity region	1815	1832	N/A	INTRINSIC
low complexity region	1844	1909	N/A	INTRINSIC
internal_repeat_2	1962	2148	3.08e-5	PROSPERO
internal_repeat_3	1983	2153	9.16e-5	PROSPERO
low complexity region	2163	2177	N/A	INTRINSIC
low complexity region	2230	2252	N/A	INTRINSIC
low complexity region	2272	2286	N/A	INTRINSIC
low complexity region	2321	2338	N/A	INTRINSIC
low complexity region	2427	2438	N/A	INTRINSIC
low complexity region	2553	2576	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000182393

SMART Domains

Protein: ENSMUSP00000138451
Gene: ENSMUSG00000040225

Domain	Start	End	E-Value	Type
low complexity region	24	51	N/A	INTRINSIC
low complexity region	104	125	N/A	INTRINSIC
low complexity region	431	462	N/A	INTRINSIC
low complexity region	481	519	N/A	INTRINSIC
low complexity region	531	548	N/A	INTRINSIC
low complexity region	560	625	N/A	INTRINSIC
low complexity region	879	893	N/A	INTRINSIC
low complexity region	946	968	N/A	INTRINSIC
low complexity region	988	1002	N/A	INTRINSIC
low complexity region	1037	1054	N/A	INTRINSIC
low complexity region	1143	1154	N/A	INTRINSIC
low complexity region	1274	1297	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182593

SMART Domains

Protein: ENSMUSP00000138674
Gene: ENSMUSG00000040225

Domain	Start	End	E-Value	Type
Pfam:BAT2_N	1	165	4.1e-70	PFAM
internal_repeat_1	334	389	9.57e-6	PROSPERO
low complexity region	405	412	N/A	INTRINSIC
SCOP:d1eq1a_	445	589	3e-5	SMART
low complexity region	647	667	N/A	INTRINSIC
low complexity region	731	743	N/A	INTRINSIC
internal_repeat_3	752	923	6.11e-5	PROSPERO
coiled coil region	994	1024	N/A	INTRINSIC
low complexity region	1155	1184	N/A	INTRINSIC
low complexity region	1210	1220	N/A	INTRINSIC
internal_repeat_1	1238	1293	9.57e-6	PROSPERO
low complexity region	1306	1333	N/A	INTRINSIC
low complexity region	1386	1407	N/A	INTRINSIC
low complexity region	1713	1744	N/A	INTRINSIC
low complexity region	1763	1801	N/A	INTRINSIC
low complexity region	1813	1830	N/A	INTRINSIC
low complexity region	1842	1907	N/A	INTRINSIC
internal_repeat_2	1960	2146	2.01e-5	PROSPERO
internal_repeat_3	1981	2151	6.11e-5	PROSPERO
low complexity region	2161	2175	N/A	INTRINSIC
low complexity region	2228	2250	N/A	INTRINSIC
low complexity region	2270	2284	N/A	INTRINSIC
low complexity region	2319	2336	N/A	INTRINSIC
low complexity region	2425	2436	N/A	INTRINSIC
low complexity region	2551	2574	N/A	INTRINSIC
low complexity region	2671	2682	N/A	INTRINSIC
low complexity region	2730	2747	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182660

SMART Domains

Protein: ENSMUSP00000138433
Gene: ENSMUSG00000040225

Domain	Start	End	E-Value	Type
Pfam:BAT2_N	1	167	7e-73	PFAM
internal_repeat_1	336	391	2.14e-5	PROSPERO
low complexity region	407	414	N/A	INTRINSIC
SCOP:d1eq1a_	447	591	2e-5	SMART
low complexity region	649	669	N/A	INTRINSIC
low complexity region	733	745	N/A	INTRINSIC
coiled coil region	996	1026	N/A	INTRINSIC
low complexity region	1157	1186	N/A	INTRINSIC
low complexity region	1212	1222	N/A	INTRINSIC
internal_repeat_1	1240	1295	2.14e-5	PROSPERO
low complexity region	1308	1335	N/A	INTRINSIC
low complexity region	1388	1409	N/A	INTRINSIC
low complexity region	1715	1746	N/A	INTRINSIC
low complexity region	1765	1803	N/A	INTRINSIC
low complexity region	1815	1832	N/A	INTRINSIC
low complexity region	1844	1909	N/A	INTRINSIC
internal_repeat_2	1962	2148	4.39e-5	PROSPERO
low complexity region	2163	2177	N/A	INTRINSIC
low complexity region	2230	2252	N/A	INTRINSIC
low complexity region	2272	2286	N/A	INTRINSIC
low complexity region	2321	2338	N/A	INTRINSIC
low complexity region	2427	2438	N/A	INTRINSIC
low complexity region	2553	2576	N/A	INTRINSIC
low complexity region	2811	2828	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183223

SMART Domains

Protein: ENSMUSP00000138698
Gene: ENSMUSG00000040225

Domain	Start	End	E-Value	Type
low complexity region	289	320	N/A	INTRINSIC
low complexity region	339	377	N/A	INTRINSIC
low complexity region	389	406	N/A	INTRINSIC
low complexity region	418	483	N/A	INTRINSIC
low complexity region	739	761	N/A	INTRINSIC
low complexity region	781	795	N/A	INTRINSIC
low complexity region	830	847	N/A	INTRINSIC
low complexity region	936	947	N/A	INTRINSIC
low complexity region	1062	1085	N/A	INTRINSIC
low complexity region	1182	1193	N/A	INTRINSIC
low complexity region	1241	1258	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184547

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,670,903	H1118L	probably benign	Het
Abca8b	A	G	11: 109,949,766		probably null	Het
Abcb5	A	T	12: 118,965,260		probably null	Het
Adcy6	A	T	15: 98,593,664	I1016N	probably damaging	Het
Afg3l2	A	T	18: 67,429,070	C312S	probably damaging	Het
Ano8	C	T	8: 71,484,834	V89M	probably damaging	Het
Arhgap21	C	T	2: 20,881,376	G330D	possibly damaging	Het
Caskin1	T	C	17: 24,496,961	L195P	probably damaging	Het
Cfap54	A	G	10: 93,039,081	I514T	probably damaging	Het
Ctdsp2	G	A	10: 126,995,820		probably benign	Het
Cyp4x1	T	C	4: 115,121,945	I152V	probably benign	Het
Dglucy	G	A	12: 100,842,700	R219Q	probably benign	Het
Disp3	G	T	4: 148,254,284	A810E	possibly damaging	Het
Dtx4	T	C	19: 12,501,153	Y22C	probably damaging	Het
Edaradd	A	T	13: 12,478,496	I105N	probably damaging	Het
Eepd1	C	T	9: 25,603,453	P519S	probably damaging	Het
Fscn3	A	T	6: 28,430,295	S155C	probably benign	Het
Gm10134	A	T	2: 28,506,246	E51V	probably damaging	Het
Gm7247	C	T	14: 51,364,348	S26F	probably benign	Het
Golga7	T	C	8: 23,250,265	E83G	probably benign	Het
Gpr12	T	C	5: 146,583,431	H227R	probably damaging	Het
Hoxa2	T	G	6: 52,164,392	S85R	possibly damaging	Het
Hrnr	T	C	3: 93,332,300	S3282P	unknown	Het
Ift74	C	A	4: 94,691,724	T543K	possibly damaging	Het
Klf10	C	A	15: 38,296,041	R420L	probably damaging	Het
Krt77	T	A	15: 101,862,855	I338F	probably damaging	Het
Limch1	A	T	5: 66,974,622	S152C	probably damaging	Het
Mgat4e	T	A	1: 134,541,496	H270L	probably benign	Het
Myrf	A	T	19: 10,219,117	L504Q	probably null	Het
Nckipsd	A	G	9: 108,813,977	Q366R	probably benign	Het
Npy5r	A	T	8: 66,682,099	V14D	probably benign	Het
Nrap	T	A	19: 56,351,599	R830*	probably null	Het
Ogfrl1	A	T	1: 23,378,989	Y103N	probably damaging	Het
Olfr978	A	T	9: 39,994,223	R138*	probably null	Het
P2rx4	T	A	5: 122,725,079	L232H	probably damaging	Het
Pabpc2	A	T	18: 39,773,894	T71S	probably benign	Het
Paip2b	C	A	6: 83,808,885	S121I	probably damaging	Het
Pofut1	C	T	2: 153,261,229	T261I	possibly damaging	Het
Ppp6c	G	T	2: 39,210,992	T46K	possibly damaging	Het
Prkd2	C	A	7: 16,850,336	H371Q	probably benign	Het
Psd3	C	T	8: 67,719,968	A894T	probably damaging	Het
Pygm	A	T	19: 6,398,043		probably null	Het
Pzp	A	T	6: 128,491,597	M989K	probably damaging	Het
Ralgapa2	A	T	2: 146,361,453	S1159T	probably benign	Het
Rapgefl1	T	C	11: 98,850,160	F575L	probably benign	Het
Rassf6	A	G	5: 90,617,768	L28S	probably damaging	Het
Rbp3	G	T	14: 33,954,900	K268N	probably damaging	Het
Rela	C	T	19: 5,647,064	T433M	possibly damaging	Het
Rnf103	T	A	6: 71,496,910	S102R	probably damaging	Het
Scarf2	A	G	16: 17,806,379	N516S	probably damaging	Het
Sdcbp2	T	C	2: 151,587,483	I241T	probably damaging	Het
Sept7	T	C	9: 25,288,198	I131T	possibly damaging	Het
Sh3pxd2b	T	C	11: 32,407,570	F191L	probably damaging	Het
Siglec15	C	A	18: 78,047,375	C236F	probably damaging	Het
Slc11a2	T	C	15: 100,397,681	T520A	probably benign	Het
Slc26a11	C	A	11: 119,379,912	F553L	probably benign	Het
Smchd1	G	A	17: 71,365,409	P1596S	possibly damaging	Het
Taar7b	A	G	10: 24,000,348	H137R	probably damaging	Het
Thap12	T	A	7: 98,716,030	C468*	probably null	Het
Timp4	C	T	6: 115,247,354	G118D	probably damaging	Het
Tnnt3	A	G	7: 142,511,266	K48E	probably damaging	Het
Trmt10a	T	A	3: 138,156,714	I255N	probably damaging	Het
Ttll10	T	C	4: 156,048,732		probably null	Het
Ube4b	A	G	4: 149,372,932	Y283H	probably damaging	Het
Ucp1	G	T	8: 83,293,938	V126L	possibly damaging	Het
Unc13b	T	A	4: 43,172,596		probably benign	Het
Vps13b	T	C	15: 35,875,772	S2768P	probably damaging	Het
Zcchc6	T	G	13: 59,789,209	Y806S	probably damaging	Het
Zfp101	T	A	17: 33,380,962	M607L	probably benign	Het
Zfp292	C	T	4: 34,805,464	V2527M	possibly damaging	Het
Zfp503	T	A	14: 21,985,562	T429S	possibly damaging	Het

Other mutations in Prrc2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Prrc2c	APN	1	162720613	splice site	probably null
IGL00577:Prrc2c	APN	1	162698116	missense	unknown
IGL00580:Prrc2c	APN	1	162698116	missense	unknown
IGL01295:Prrc2c	APN	1	162682492	missense	probably damaging	1.00
IGL01554:Prrc2c	APN	1	162710786	missense	probably damaging	0.99
IGL01684:Prrc2c	APN	1	162706462	unclassified	probably benign
IGL01745:Prrc2c	APN	1	162724728	missense	probably damaging	1.00
IGL01770:Prrc2c	APN	1	162704499	missense	probably benign	0.23
IGL01905:Prrc2c	APN	1	162705329	unclassified	probably benign
IGL02304:Prrc2c	APN	1	162684136	missense	probably benign	0.05
IGL02389:Prrc2c	APN	1	162692870	missense	probably damaging	1.00
IGL02540:Prrc2c	APN	1	162723137	missense	probably damaging	1.00
IGL02681:Prrc2c	APN	1	162705612	unclassified	probably benign
IGL02686:Prrc2c	APN	1	162707947	unclassified	probably benign
IGL02795:Prrc2c	APN	1	162714299	missense	probably benign
IGL02894:Prrc2c	APN	1	162678057	missense	probably damaging	1.00
IGL02957:Prrc2c	APN	1	162706535	unclassified	probably benign
IGL02981:Prrc2c	APN	1	162705179	unclassified	probably benign
IGL03070:Prrc2c	APN	1	162677409	missense	probably damaging	1.00
IGL03096:Prrc2c	APN	1	162702359	missense	unknown
R0058:Prrc2c	UTSW	1	162698884	missense	unknown
R0058:Prrc2c	UTSW	1	162698884	missense	unknown
R0135:Prrc2c	UTSW	1	162715483	splice site	probably benign
R0279:Prrc2c	UTSW	1	162715464	missense	probably damaging	1.00
R0363:Prrc2c	UTSW	1	162697811	missense	unknown
R0436:Prrc2c	UTSW	1	162705314	unclassified	probably benign
R0605:Prrc2c	UTSW	1	162682426	missense	probably damaging	1.00
R0696:Prrc2c	UTSW	1	162708852	critical splice donor site	probably null
R0981:Prrc2c	UTSW	1	162705981	unclassified	probably benign
R1693:Prrc2c	UTSW	1	162718713	missense	probably damaging	0.98
R1714:Prrc2c	UTSW	1	162677376	missense	probably damaging	1.00
R1791:Prrc2c	UTSW	1	162704982	unclassified	probably benign
R1794:Prrc2c	UTSW	1	162705959	unclassified	probably benign
R1998:Prrc2c	UTSW	1	162704918	unclassified	probably benign
R2040:Prrc2c	UTSW	1	162697557	missense	probably damaging	1.00
R2168:Prrc2c	UTSW	1	162710334	unclassified	probably benign
R2246:Prrc2c	UTSW	1	162707791	unclassified	probably benign
R2830:Prrc2c	UTSW	1	162708916	unclassified	probably benign
R2926:Prrc2c	UTSW	1	162706127	unclassified	probably benign
R3703:Prrc2c	UTSW	1	162710691	missense	probably damaging	1.00
R3745:Prrc2c	UTSW	1	162698185	missense	unknown
R3760:Prrc2c	UTSW	1	162692851	missense	probably damaging	1.00
R3784:Prrc2c	UTSW	1	162709669	unclassified	probably benign
R3959:Prrc2c	UTSW	1	162708892	unclassified	probably benign
R4255:Prrc2c	UTSW	1	162706326	unclassified	probably benign
R4276:Prrc2c	UTSW	1	162673591	missense	probably damaging	1.00
R4421:Prrc2c	UTSW	1	162709061	unclassified	probably benign
R4593:Prrc2c	UTSW	1	162697532	missense	probably damaging	1.00
R4651:Prrc2c	UTSW	1	162723274	missense	probably damaging	1.00
R4652:Prrc2c	UTSW	1	162723274	missense	probably damaging	1.00
R4660:Prrc2c	UTSW	1	162680895	missense	probably damaging	1.00
R4677:Prrc2c	UTSW	1	162705179	unclassified	probably benign
R4688:Prrc2c	UTSW	1	162697687	missense	unknown
R4753:Prrc2c	UTSW	1	162691230	missense	probably damaging	1.00
R4790:Prrc2c	UTSW	1	162710481	missense	unknown
R4981:Prrc2c	UTSW	1	162692547	missense	probably damaging	1.00
R4995:Prrc2c	UTSW	1	162705310	unclassified	probably benign
R5119:Prrc2c	UTSW	1	162705440	unclassified	probably benign
R5127:Prrc2c	UTSW	1	162697846	missense	unknown
R5291:Prrc2c	UTSW	1	162705582	unclassified	probably benign
R5474:Prrc2c	UTSW	1	162709644	unclassified	probably benign
R5543:Prrc2c	UTSW	1	162673511	missense	probably damaging	0.99
R5579:Prrc2c	UTSW	1	162680758	critical splice donor site	probably null
R5594:Prrc2c	UTSW	1	162699031	missense	unknown
R5620:Prrc2c	UTSW	1	162673529	missense	probably damaging	1.00
R6142:Prrc2c	UTSW	1	162710387	missense	unknown
R6199:Prrc2c	UTSW	1	162682516	missense	probably damaging	1.00
R6277:Prrc2c	UTSW	1	162714314	missense	probably benign
R6504:Prrc2c	UTSW	1	162697795	missense	unknown
R6671:Prrc2c	UTSW	1	162697585	missense	probably damaging	1.00
R6785:Prrc2c	UTSW	1	162709101	unclassified	probably benign
R6799:Prrc2c	UTSW	1	162709061	unclassified	probably benign
R6801:Prrc2c	UTSW	1	162709061	unclassified	probably benign
R6850:Prrc2c	UTSW	1	162709061	unclassified	probably benign
R6851:Prrc2c	UTSW	1	162709061	unclassified	probably benign
R6856:Prrc2c	UTSW	1	162682371	missense	probably damaging	1.00
R6869:Prrc2c	UTSW	1	162709061	unclassified	probably benign
R6882:Prrc2c	UTSW	1	162709061	unclassified	probably benign
R6884:Prrc2c	UTSW	1	162709061	unclassified	probably benign
R6897:Prrc2c	UTSW	1	162705506	unclassified	probably benign
R6934:Prrc2c	UTSW	1	162720505	missense	probably benign	0.10
R6976:Prrc2c	UTSW	1	162692844	missense	probably damaging	1.00
R7132:Prrc2c	UTSW	1	162681281	missense	possibly damaging	0.77
R7165:Prrc2c	UTSW	1	162673517	missense	possibly damaging	0.94
R7282:Prrc2c	UTSW	1	162679974	missense	possibly damaging	0.59
R7467:Prrc2c	UTSW	1	162677363	missense	possibly damaging	0.84
R7915:Prrc2c	UTSW	1	162692408	missense	probably benign	0.39
R8068:Prrc2c	UTSW	1	162709061	unclassified	probably benign
R8529:Prrc2c	UTSW	1	162709094	unclassified	probably benign
R8734:Prrc2c	UTSW	1	162679512	missense	possibly damaging	0.92
R8735:Prrc2c	UTSW	1	162709558	missense	unknown
R8813:Prrc2c	UTSW	1	162705243	missense	unknown
R8946:Prrc2c	UTSW	1	162708909	unclassified	probably benign
R8975:Prrc2c	UTSW	1	162706061	missense	unknown
R9035:Prrc2c	UTSW	1	162675726	missense	possibly damaging	0.96
R9185:Prrc2c	UTSW	1	162704643	missense	unknown
R9261:Prrc2c	UTSW	1	162678053	missense	possibly damaging	0.48
R9287:Prrc2c	UTSW	1	162714274	missense	probably benign	0.34
R9289:Prrc2c	UTSW	1	162679561	missense	probably benign	0.33
R9466:Prrc2c	UTSW	1	162675689	missense	possibly damaging	0.53
R9523:Prrc2c	UTSW	1	162697729	missense	unknown
R9542:Prrc2c	UTSW	1	162680790	missense	possibly damaging	0.88
R9629:Prrc2c	UTSW	1	162692390	missense	possibly damaging	0.95
R9744:Prrc2c	UTSW	1	162678164	missense	possibly damaging	0.96
R9748:Prrc2c	UTSW	1	162707866	missense	unknown
X0020:Prrc2c	UTSW	1	162707847	unclassified	probably benign
X0039:Prrc2c	UTSW	1	162704793	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CTGCTTGCACAGTCTGAAAG -3'
(R):5'- TACCAGTAGAACATGAAGGAGCTC -3'

Sequencing Primer
(F):5'- TGCTTGCACAGTCTGAAAGCATAC -3'
(R):5'- ACATGAAGGAGCTCTTGTGG -3'

Posted On

2017-06-27