Mutagenetix > Incidental Mutation

Incidental Mutation 'R3745:Prrc2c'

271148

Institutional Source

Beutler Lab

Gene Symbol

Prrc2c

Ensembl Gene

ENSMUSG00000040225

Gene Name

proline-rich coiled-coil 2C

Synonyms

9630039I18Rik, 1810043M20Rik, Bat2d, Bat2l2

MMRRC Submission

040731-MU

Accession Numbers

Essential gene?

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

Stock #

R3745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

162670725-162740556 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 162698185 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 284 (T284I)

Ref Sequence

ENSEMBL: ENSMUSP00000138698 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000028016
AA Change: T1708I

SMART Domains

Protein: ENSMUSP00000028016
Gene: ENSMUSG00000040225
AA Change: T1708I

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

unknown
Transcript: ENSMUST00000182149
AA Change: T1710I

SMART Domains

Protein: ENSMUSP00000138548
Gene: ENSMUSG00000040225
AA Change: T1710I

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

unknown
Transcript: ENSMUST00000182393
AA Change: T426I

SMART Domains

Protein: ENSMUSP00000138451
Gene: ENSMUSG00000040225
AA Change: T426I

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

unknown
Transcript: ENSMUST00000182593
AA Change: T1708I

SMART Domains

Protein: ENSMUSP00000138674
Gene: ENSMUSG00000040225
AA Change: T1708I

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

unknown
Transcript: ENSMUST00000182660
AA Change: T1710I

SMART Domains

Protein: ENSMUSP00000138433
Gene: ENSMUSG00000040225
AA Change: T1710I

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

unknown
Transcript: ENSMUST00000183223
AA Change: T284I

SMART Domains

Protein: ENSMUSP00000138698
Gene: ENSMUSG00000040225
AA Change: T284I

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Acot9	G	A	X: 155,271,945		probably benign	Het
Akap10	A	G	11: 61,915,305	V199A	probably benign	Het
Aox4	C	T	1: 58,245,870	H594Y	probably damaging	Het
Arhgap35	A	T	7: 16,563,722	Y473N	probably damaging	Het
Aspn	G	A	13: 49,566,560	E351K	probably damaging	Het
Astn1	G	T	1: 158,502,060	A162S	probably damaging	Het
Auts2	A	G	5: 131,476,587		probably benign	Het
Cog6	A	T	3: 52,992,819	M507K	probably benign	Het
Crct1	C	A	3: 93,014,707		probably benign	Het
Cyp2d11	A	C	15: 82,391,855	I175S	probably benign	Het
Dclk1	A	G	3: 55,247,442	N98D	possibly damaging	Het
Erich5	T	A	15: 34,470,732	C36S	probably damaging	Het
F5	A	G	1: 164,186,779	I540V	possibly damaging	Het
Fam20a	A	T	11: 109,677,790	S303R	probably benign	Het
Fam214a	T	C	9: 75,009,862	V581A	probably benign	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Gbp9	C	A	5: 105,105,858		probably benign	Het
Gm6408	G	T	5: 146,484,436	V292F	probably damaging	Het
Kmt2a	A	G	9: 44,831,340		probably benign	Het
Lrriq1	T	C	10: 103,170,856	D1136G	probably damaging	Het
Macrod2	C	A	2: 141,810,629	T204K	probably damaging	Het
Mlkl	A	G	8: 111,315,567		probably benign	Het
Msantd1	T	A	5: 34,923,467	V155E	possibly damaging	Het
Myo3b	A	G	2: 70,234,485		probably benign	Het
Nbn	T	A	4: 15,976,163	C375S	possibly damaging	Het
Nell2	A	C	15: 95,432,673	C231W	probably damaging	Het
Nipbl	A	G	15: 8,358,874	S421P	probably benign	Het
Npr3	A	T	15: 11,905,491	V50E	probably damaging	Het
Olfr1425	A	G	19: 12,074,380	L84P	probably damaging	Het
Pclo	T	C	5: 14,678,421		probably benign	Het
Pkn3	A	G	2: 30,090,341	K785R	probably damaging	Het
Ppef2	T	A	5: 92,239,151		probably benign	Het
Prdm10	T	C	9: 31,340,407	I357T	possibly damaging	Het
Psma3	T	C	12: 70,978,748	S13P	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rpl6l	T	C	10: 111,126,365		noncoding transcript	Het
Tex11	A	G	X: 100,916,572	V522A	probably benign	Het
Thsd7b	A	G	1: 129,678,241	E573G	probably benign	Het
Tom1l1	A	G	11: 90,657,741	S259P	probably benign	Het
Trpm8	A	G	1: 88,348,327	E549G	probably benign	Het
Vmn1r66	C	T	7: 10,274,321	A262T	possibly damaging	Het
Zc3h13	T	A	14: 75,330,661	D1131E	probably benign	Het
Zfp445	A	C	9: 122,854,726	D289E	probably benign	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
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
R5994:Prrc2c	UTSW	1	162674156	splice site	probably null
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'- GCTGGGCATGAAGTTAGAACCG -3'
(R):5'- CCCTAAGGGTGTCCAACTTAG -3'

Sequencing Primer
(F):5'- AACCGGAGCTGGGGTTGAC -3'
(R):5'- CTAAGGGTGTCCAACTTAGAAAAATG -3'

Posted On

2015-03-18