Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01554:Prrc2c'

90660

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prrc2c

Ensembl Gene

ENSMUSG00000040225

Gene Name

proline-rich coiled-coil 2C

Synonyms

9630039I18Rik, Bat2d, 1810043M20Rik, Bat2l2

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.513) question?

Stock #

IGL01554

Quality Score

Status

Chromosome

Chromosomal Location

162499354-162568125 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 162538355 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 425 (P425L)

Ref Sequence

ENSEMBL: ENSMUSP00000138609 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028016] [ENSMUST00000182149] [ENSMUST00000182593] [ENSMUST00000182660] [ENSMUST00000183011]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000028016
AA Change: P430L

SMART Domains

Protein: ENSMUSP00000028016
Gene: ENSMUSG00000040225
AA Change: P430L

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: P432L

SMART Domains

Protein: ENSMUSP00000138548
Gene: ENSMUSG00000040225
AA Change: P432L

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

noncoding transcript
Transcript: ENSMUST00000182448

Predicted Effect

unknown
Transcript: ENSMUST00000182593
AA Change: P430L

SMART Domains

Protein: ENSMUSP00000138674
Gene: ENSMUSG00000040225
AA Change: P430L

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: P432L

SMART Domains

Protein: ENSMUSP00000138433
Gene: ENSMUSG00000040225
AA Change: P432L

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: ENSMUST00000183011
AA Change: P425L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000138609
Gene: ENSMUSG00000040225
AA Change: P425L

Domain	Start	End	E-Value	Type
Pfam:BAT2_N	1	160	3.2e-64	PFAM
low complexity region	400	407	N/A	INTRINSIC
coiled coil region	443	560	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 109,932,992 (GRCm39)	I1211V	probably benign	Het
Adgre4	A	G	17: 56,124,090 (GRCm39)	S497G	probably damaging	Het
Ankrd55	T	C	13: 112,459,601 (GRCm39)	M65T	possibly damaging	Het
Entrep3	A	G	3: 89,092,888 (GRCm39)	T257A	probably damaging	Het
Ermard	A	G	17: 15,271,855 (GRCm39)	D338G	possibly damaging	Het
Espl1	T	C	15: 102,221,660 (GRCm39)	L983P	probably damaging	Het
Ext2	A	C	2: 93,642,294 (GRCm39)	L192V	probably damaging	Het
Fam83b	T	A	9: 76,409,403 (GRCm39)	Y241F	probably benign	Het
Fbxl12	G	A	9: 20,550,215 (GRCm39)	P170S	possibly damaging	Het
Fsip2	C	A	2: 82,807,622 (GRCm39)	P1314T	possibly damaging	Het
Greb1l	A	G	18: 10,522,144 (GRCm39)	R747G	probably benign	Het
Hspa1a	G	T	17: 35,189,500 (GRCm39)	P468T	probably damaging	Het
Lamb1	T	C	12: 31,356,976 (GRCm39)	C1028R	probably damaging	Het
Lcn8	C	T	2: 25,544,198 (GRCm39)	A40V	possibly damaging	Het
Lmbrd2	A	G	15: 9,165,906 (GRCm39)	Y260C	possibly damaging	Het
Mex3d	G	T	10: 80,217,869 (GRCm39)	N449K	possibly damaging	Het
Mgat4f	A	G	1: 134,317,696 (GRCm39)	N156S	probably damaging	Het
Ncam2	A	G	16: 81,309,823 (GRCm39)	K438E	possibly damaging	Het
Nudt7	A	G	8: 114,874,625 (GRCm39)		probably benign	Het
Nup214	C	A	2: 31,941,084 (GRCm39)	S39*	probably null	Het
Opn5	A	G	17: 42,918,089 (GRCm39)	S58P	probably damaging	Het
Or6c74	T	C	10: 129,870,052 (GRCm39)	S186P	probably damaging	Het
Or7e173	T	C	9: 19,938,704 (GRCm39)	I177V	possibly damaging	Het
Pcsk1	T	A	13: 75,280,426 (GRCm39)	N750K	probably benign	Het
Pdzrn3	T	C	6: 101,127,502 (GRCm39)	N1055D	probably damaging	Het
Phf2	T	A	13: 48,959,355 (GRCm39)	K884*	probably null	Het
Prkdc	A	G	16: 15,470,166 (GRCm39)	N191S	probably benign	Het
Prpf8	A	T	11: 75,386,472 (GRCm39)	Q987L	probably damaging	Het
Rab36	T	C	10: 74,886,520 (GRCm39)	I166T	possibly damaging	Het
Rab3gap1	G	T	1: 127,855,745 (GRCm39)	L461F	possibly damaging	Het
Rnls	A	T	19: 33,368,499 (GRCm39)	Y27N	possibly damaging	Het
Sncaip	A	T	18: 53,002,006 (GRCm39)	I176F	possibly damaging	Het
Tagap	G	A	17: 8,151,780 (GRCm39)	G322S	probably benign	Het
Tas2r130	C	T	6: 131,607,046 (GRCm39)	A250T	probably benign	Het
Tgs1	A	G	4: 3,593,632 (GRCm39)	S507G	probably null	Het
Ttn	T	C	2: 76,706,056 (GRCm39)		probably benign	Het
Zp2	T	C	7: 119,737,548 (GRCm39)	K246E	possibly damaging	Het

Other mutations in Prrc2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Prrc2c	APN	1	162,548,182 (GRCm39)	splice site	probably null
IGL00577:Prrc2c	APN	1	162,525,685 (GRCm39)	missense	unknown
IGL00580:Prrc2c	APN	1	162,525,685 (GRCm39)	missense	unknown
IGL01295:Prrc2c	APN	1	162,510,061 (GRCm39)	missense	probably damaging	1.00
IGL01684:Prrc2c	APN	1	162,534,031 (GRCm39)	unclassified	probably benign
IGL01745:Prrc2c	APN	1	162,552,297 (GRCm39)	missense	probably damaging	1.00
IGL01770:Prrc2c	APN	1	162,532,068 (GRCm39)	missense	probably benign	0.23
IGL01905:Prrc2c	APN	1	162,532,898 (GRCm39)	unclassified	probably benign
IGL02304:Prrc2c	APN	1	162,511,705 (GRCm39)	missense	probably benign	0.05
IGL02389:Prrc2c	APN	1	162,520,439 (GRCm39)	missense	probably damaging	1.00
IGL02540:Prrc2c	APN	1	162,550,706 (GRCm39)	missense	probably damaging	1.00
IGL02681:Prrc2c	APN	1	162,533,181 (GRCm39)	unclassified	probably benign
IGL02686:Prrc2c	APN	1	162,535,516 (GRCm39)	unclassified	probably benign
IGL02795:Prrc2c	APN	1	162,541,868 (GRCm39)	missense	probably benign
IGL02894:Prrc2c	APN	1	162,505,626 (GRCm39)	missense	probably damaging	1.00
IGL02957:Prrc2c	APN	1	162,534,104 (GRCm39)	unclassified	probably benign
IGL02981:Prrc2c	APN	1	162,532,748 (GRCm39)	unclassified	probably benign
IGL03070:Prrc2c	APN	1	162,504,978 (GRCm39)	missense	probably damaging	1.00
IGL03096:Prrc2c	APN	1	162,529,928 (GRCm39)	missense	unknown
R0058:Prrc2c	UTSW	1	162,526,453 (GRCm39)	missense	unknown
R0058:Prrc2c	UTSW	1	162,526,453 (GRCm39)	missense	unknown
R0135:Prrc2c	UTSW	1	162,543,052 (GRCm39)	splice site	probably benign
R0279:Prrc2c	UTSW	1	162,543,033 (GRCm39)	missense	probably damaging	1.00
R0363:Prrc2c	UTSW	1	162,525,380 (GRCm39)	missense	unknown
R0436:Prrc2c	UTSW	1	162,532,883 (GRCm39)	unclassified	probably benign
R0605:Prrc2c	UTSW	1	162,509,995 (GRCm39)	missense	probably damaging	1.00
R0696:Prrc2c	UTSW	1	162,536,421 (GRCm39)	critical splice donor site	probably null
R0981:Prrc2c	UTSW	1	162,533,550 (GRCm39)	unclassified	probably benign
R1693:Prrc2c	UTSW	1	162,546,282 (GRCm39)	missense	probably damaging	0.98
R1714:Prrc2c	UTSW	1	162,504,945 (GRCm39)	missense	probably damaging	1.00
R1791:Prrc2c	UTSW	1	162,532,551 (GRCm39)	unclassified	probably benign
R1794:Prrc2c	UTSW	1	162,533,528 (GRCm39)	unclassified	probably benign
R1998:Prrc2c	UTSW	1	162,532,487 (GRCm39)	unclassified	probably benign
R2040:Prrc2c	UTSW	1	162,525,126 (GRCm39)	missense	probably damaging	1.00
R2168:Prrc2c	UTSW	1	162,537,903 (GRCm39)	unclassified	probably benign
R2246:Prrc2c	UTSW	1	162,535,360 (GRCm39)	unclassified	probably benign
R2830:Prrc2c	UTSW	1	162,536,485 (GRCm39)	unclassified	probably benign
R2926:Prrc2c	UTSW	1	162,533,696 (GRCm39)	unclassified	probably benign
R3703:Prrc2c	UTSW	1	162,538,260 (GRCm39)	missense	probably damaging	1.00
R3745:Prrc2c	UTSW	1	162,525,754 (GRCm39)	missense	unknown
R3760:Prrc2c	UTSW	1	162,520,420 (GRCm39)	missense	probably damaging	1.00
R3784:Prrc2c	UTSW	1	162,537,238 (GRCm39)	unclassified	probably benign
R3959:Prrc2c	UTSW	1	162,536,461 (GRCm39)	unclassified	probably benign
R4255:Prrc2c	UTSW	1	162,533,895 (GRCm39)	unclassified	probably benign
R4276:Prrc2c	UTSW	1	162,501,160 (GRCm39)	missense	probably damaging	1.00
R4421:Prrc2c	UTSW	1	162,536,630 (GRCm39)	unclassified	probably benign
R4593:Prrc2c	UTSW	1	162,525,101 (GRCm39)	missense	probably damaging	1.00
R4651:Prrc2c	UTSW	1	162,550,843 (GRCm39)	missense	probably damaging	1.00
R4652:Prrc2c	UTSW	1	162,550,843 (GRCm39)	missense	probably damaging	1.00
R4660:Prrc2c	UTSW	1	162,508,464 (GRCm39)	missense	probably damaging	1.00
R4677:Prrc2c	UTSW	1	162,532,748 (GRCm39)	unclassified	probably benign
R4688:Prrc2c	UTSW	1	162,525,256 (GRCm39)	missense	unknown
R4753:Prrc2c	UTSW	1	162,518,799 (GRCm39)	missense	probably damaging	1.00
R4790:Prrc2c	UTSW	1	162,538,050 (GRCm39)	missense	unknown
R4981:Prrc2c	UTSW	1	162,520,116 (GRCm39)	missense	probably damaging	1.00
R4995:Prrc2c	UTSW	1	162,532,879 (GRCm39)	unclassified	probably benign
R5119:Prrc2c	UTSW	1	162,533,009 (GRCm39)	unclassified	probably benign
R5127:Prrc2c	UTSW	1	162,525,415 (GRCm39)	missense	unknown
R5291:Prrc2c	UTSW	1	162,533,151 (GRCm39)	unclassified	probably benign
R5474:Prrc2c	UTSW	1	162,537,213 (GRCm39)	unclassified	probably benign
R5543:Prrc2c	UTSW	1	162,501,080 (GRCm39)	missense	probably damaging	0.99
R5579:Prrc2c	UTSW	1	162,508,327 (GRCm39)	critical splice donor site	probably null
R5594:Prrc2c	UTSW	1	162,526,600 (GRCm39)	missense	unknown
R5620:Prrc2c	UTSW	1	162,501,098 (GRCm39)	missense	probably damaging	1.00
R5994:Prrc2c	UTSW	1	162,501,725 (GRCm39)	splice site	probably null
R6142:Prrc2c	UTSW	1	162,537,956 (GRCm39)	missense	unknown
R6199:Prrc2c	UTSW	1	162,510,085 (GRCm39)	missense	probably damaging	1.00
R6277:Prrc2c	UTSW	1	162,541,883 (GRCm39)	missense	probably benign
R6504:Prrc2c	UTSW	1	162,525,364 (GRCm39)	missense	unknown
R6671:Prrc2c	UTSW	1	162,525,154 (GRCm39)	missense	probably damaging	1.00
R6785:Prrc2c	UTSW	1	162,536,670 (GRCm39)	unclassified	probably benign
R6799:Prrc2c	UTSW	1	162,536,630 (GRCm39)	unclassified	probably benign
R6801:Prrc2c	UTSW	1	162,536,630 (GRCm39)	unclassified	probably benign
R6850:Prrc2c	UTSW	1	162,536,630 (GRCm39)	unclassified	probably benign
R6851:Prrc2c	UTSW	1	162,536,630 (GRCm39)	unclassified	probably benign
R6856:Prrc2c	UTSW	1	162,509,940 (GRCm39)	missense	probably damaging	1.00
R6869:Prrc2c	UTSW	1	162,536,630 (GRCm39)	unclassified	probably benign
R6882:Prrc2c	UTSW	1	162,536,630 (GRCm39)	unclassified	probably benign
R6884:Prrc2c	UTSW	1	162,536,630 (GRCm39)	unclassified	probably benign
R6897:Prrc2c	UTSW	1	162,533,075 (GRCm39)	unclassified	probably benign
R6934:Prrc2c	UTSW	1	162,548,074 (GRCm39)	missense	probably benign	0.10
R6976:Prrc2c	UTSW	1	162,520,413 (GRCm39)	missense	probably damaging	1.00
R7132:Prrc2c	UTSW	1	162,508,850 (GRCm39)	missense	possibly damaging	0.77
R7165:Prrc2c	UTSW	1	162,501,086 (GRCm39)	missense	possibly damaging	0.94
R7282:Prrc2c	UTSW	1	162,507,543 (GRCm39)	missense	possibly damaging	0.59
R7467:Prrc2c	UTSW	1	162,504,932 (GRCm39)	missense	possibly damaging	0.84
R7915:Prrc2c	UTSW	1	162,519,977 (GRCm39)	missense	probably benign	0.39
R8068:Prrc2c	UTSW	1	162,536,630 (GRCm39)	unclassified	probably benign
R8529:Prrc2c	UTSW	1	162,536,663 (GRCm39)	unclassified	probably benign
R8734:Prrc2c	UTSW	1	162,507,081 (GRCm39)	missense	possibly damaging	0.92
R8735:Prrc2c	UTSW	1	162,537,127 (GRCm39)	missense	unknown
R8813:Prrc2c	UTSW	1	162,532,812 (GRCm39)	missense	unknown
R8946:Prrc2c	UTSW	1	162,536,478 (GRCm39)	unclassified	probably benign
R8975:Prrc2c	UTSW	1	162,533,630 (GRCm39)	missense	unknown
R9035:Prrc2c	UTSW	1	162,503,295 (GRCm39)	missense	possibly damaging	0.96
R9185:Prrc2c	UTSW	1	162,532,212 (GRCm39)	missense	unknown
R9261:Prrc2c	UTSW	1	162,505,622 (GRCm39)	missense	possibly damaging	0.48
R9287:Prrc2c	UTSW	1	162,541,843 (GRCm39)	missense	probably benign	0.34
R9289:Prrc2c	UTSW	1	162,507,130 (GRCm39)	missense	probably benign	0.33
R9466:Prrc2c	UTSW	1	162,503,258 (GRCm39)	missense	possibly damaging	0.53
R9523:Prrc2c	UTSW	1	162,525,298 (GRCm39)	missense	unknown
R9542:Prrc2c	UTSW	1	162,508,359 (GRCm39)	missense	possibly damaging	0.88
R9629:Prrc2c	UTSW	1	162,519,959 (GRCm39)	missense	possibly damaging	0.95
R9744:Prrc2c	UTSW	1	162,505,733 (GRCm39)	missense	possibly damaging	0.96
R9748:Prrc2c	UTSW	1	162,535,435 (GRCm39)	missense	unknown
X0020:Prrc2c	UTSW	1	162,535,416 (GRCm39)	unclassified	probably benign
X0039:Prrc2c	UTSW	1	162,532,362 (GRCm39)	frame shift	probably null

Posted On

2013-12-09