Mutagenetix > Incidental Mutation

Incidental Mutation 'R6856:Prrc2c'

535232

Institutional Source

Beutler Lab

Gene Symbol

Prrc2c

Ensembl Gene

ENSMUSG00000040225

Gene Name

proline-rich coiled-coil 2C

Synonyms

9630039I18Rik, 1810043M20Rik, Bat2d, Bat2l2

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

R6856 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

162670725-162740556 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 162682371 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 2317 (L2317P)

Ref Sequence

ENSEMBL: ENSMUSP00000138674 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028016
AA Change: L2317P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028016
Gene: ENSMUSG00000040225
AA Change: L2317P

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 damaging
Transcript: ENSMUST00000182149
AA Change: L2319P

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

SMART Domains

Protein: ENSMUSP00000138548
Gene: ENSMUSG00000040225
AA Change: L2319P

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 damaging
Transcript: ENSMUST00000182393
AA Change: L1035P

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

SMART Domains

Protein: ENSMUSP00000138451
Gene: ENSMUSG00000040225
AA Change: L1035P

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 damaging
Transcript: ENSMUST00000182593
AA Change: L2317P

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

SMART Domains

Protein: ENSMUSP00000138674
Gene: ENSMUSG00000040225
AA Change: L2317P

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 damaging
Transcript: ENSMUST00000182660
AA Change: L2319P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138433
Gene: ENSMUSG00000040225
AA Change: L2319P

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 damaging
Transcript: ENSMUST00000183223
AA Change: L828P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138698
Gene: ENSMUSG00000040225
AA Change: L828P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	G	3: 151,500,118	M156V	probably benign	Het
Aire	A	T	10: 78,030,255	F546I	probably damaging	Het
Ankk1	T	C	9: 49,420,020	E230G	probably benign	Het
Anp32a	A	T	9: 62,372,115	K86N	possibly damaging	Het
Aqp4	T	C	18: 15,399,896	I47V	possibly damaging	Het
Arap3	A	G	18: 37,979,863	V1098A	possibly damaging	Het
Ascc3	T	A	10: 50,749,062	W1652R	probably damaging	Het
Atad2	T	A	15: 58,106,813	H464L	probably damaging	Het
Brca2	C	A	5: 150,540,208	H1146N	possibly damaging	Het
Capn9	G	A	8: 124,597,569	V203M	probably damaging	Het
Ccr6	T	A	17: 8,256,049	S29T	probably benign	Het
Cfap99	G	T	5: 34,310,217		probably null	Het
Cpt1c	C	T	7: 44,959,918	G716S	probably damaging	Het
Dhx29	A	T	13: 112,952,861	Q722L	probably benign	Het
Dmxl1	C	T	18: 49,852,288	R201*	probably null	Het
Dsg2	G	A	18: 20,601,802	G946S	probably damaging	Het
Erg	C	A	16: 95,368,651		probably null	Het
Fam198b	G	T	3: 79,886,141		probably benign	Het
Fbxo32	G	A	15: 58,214,641		probably benign	Het
Glis1	T	G	4: 107,435,879	D66E	probably damaging	Het
Gm21671	A	G	5: 25,950,845	I167T	probably benign	Het
Grm6	A	T	11: 50,859,825	N605I	probably damaging	Het
Gtf3c6	T	C	10: 40,249,672	E183G	probably benign	Het
Herc1	A	G	9: 66,397,898	M861V	probably benign	Het
Igkv12-41	A	T	6: 69,858,529	S80T	probably damaging	Het
Kcnt2	T	C	1: 140,596,004	S1057P	probably damaging	Het
Krt36	T	G	11: 100,103,390	Q287P	probably damaging	Het
Ldhd	A	G	8: 111,630,274	S13P	probably benign	Het
Lmtk3	T	A	7: 45,794,297		probably benign	Het
Lrp2	A	T	2: 69,513,268	F916I	probably damaging	Het
Map4k1	A	T	7: 28,986,834	I92F	probably damaging	Het
Naa25	A	T	5: 121,438,804	K872M	probably damaging	Het
Nek3	C	A	8: 22,129,447	G443V	probably damaging	Het
Noxred1	T	C	12: 87,227,036	E77G	probably benign	Het
Nup210	G	A	6: 91,087,913	Q202*	probably null	Het
Olfr1065	G	T	2: 86,445,907	S25Y	probably benign	Het
Olfr646	A	T	7: 104,106,791	M171L	probably benign	Het
Pax3	A	G	1: 78,132,419	S201P	probably damaging	Het
Pcdhgb5	T	A	18: 37,733,404	Y751N	probably benign	Het
Pign	A	T	1: 105,553,895	L792*	probably null	Het
Pkd1	T	C	17: 24,573,493	F1385L	probably benign	Het
Plxnb2	A	C	15: 89,164,320	C629G	probably benign	Het
Prpsap2	A	T	11: 61,730,271	I328N	probably benign	Het
Ptgfrn	T	C	3: 101,045,446	D824G	probably damaging	Het
Ptpra	G	A	2: 130,519,381	S204N	probably damaging	Het
Pygm	G	T	19: 6,393,757	G583C	probably damaging	Het
Rap1a	A	G	3: 105,732,068	F92L	probably damaging	Het
Slmap	A	T	14: 26,430,092		probably null	Het
Spdye4c	A	G	2: 128,596,130		probably null	Het
Ssfa2	C	T	2: 79,657,705	R711C	probably damaging	Het
Stk11	C	A	10: 80,128,090	F97L	probably benign	Het
Tbc1d9b	G	A	11: 50,168,746	A992T	probably benign	Het
Tmem232	G	A	17: 65,450,310	T296M	possibly damaging	Het
Trim33	C	T	3: 103,352,049	T1018M	probably damaging	Het
Trpv2	A	C	11: 62,584,615	I285L	probably benign	Het
Usp46	A	G	5: 74,028,934		probably benign	Het
Vmn1r27	T	A	6: 58,215,447	M191L	possibly damaging	Het
Vwf	G	T	6: 125,642,150	E1264*	probably null	Het
Zfp109	A	T	7: 24,229,398	N195K	probably benign	Het
Zfp385b	T	A	2: 77,415,794	L208F	probably damaging	Het
Zfp839	T	A	12: 110,866,761	Y515*	probably null	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
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
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'- TTGTCATGGATGGAAGGGACTC -3'
(R):5'- CCATGGGACCCATAGAATCAGAAG -3'

Sequencing Primer
(F):5'- GGACTCAAACCTAGAAGTACACCTGG -3'
(R):5'- GAGTGAACATGCTACATTTTTCTCC -3'

Posted On

2018-09-12