Mutagenetix > Incidental Mutation

Incidental Mutation 'R9601:Prrc2b'

726331

Institutional Source

Beutler Lab

Gene Symbol

Prrc2b

Ensembl Gene

ENSMUSG00000039262

Gene Name

proline-rich coiled-coil 2B

Synonyms

5830434P21Rik, Bat2l

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9601 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32041094-32124549 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32090953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 442 (R442S)

Ref Sequence

ENSEMBL: ENSMUSP00000064892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036691] [ENSMUST00000069817]

AlphaFold

Q7TPM1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036691
AA Change: R442S

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000035734
Gene: ENSMUSG00000039262
AA Change: R442S

Domain	Start	End	E-Value	Type
Pfam:BAT2_N	1	194	2.7e-85	PFAM
low complexity region	359	374	N/A	INTRINSIC
low complexity region	388	394	N/A	INTRINSIC
low complexity region	413	424	N/A	INTRINSIC
coiled coil region	494	544	N/A	INTRINSIC
low complexity region	600	621	N/A	INTRINSIC
low complexity region	638	656	N/A	INTRINSIC
low complexity region	885	900	N/A	INTRINSIC
low complexity region	992	1007	N/A	INTRINSIC
low complexity region	1112	1126	N/A	INTRINSIC
low complexity region	1218	1233	N/A	INTRINSIC
low complexity region	1257	1275	N/A	INTRINSIC
low complexity region	1402	1421	N/A	INTRINSIC
low complexity region	1425	1437	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000069817
AA Change: R442S

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

SMART Domains

Protein: ENSMUSP00000064892
Gene: ENSMUSG00000039262
AA Change: R442S

Domain	Start	End	E-Value	Type
Pfam:BAT2_N	1	191	3.1e-65	PFAM
low complexity region	359	374	N/A	INTRINSIC
low complexity region	388	394	N/A	INTRINSIC
low complexity region	413	424	N/A	INTRINSIC
coiled coil region	494	544	N/A	INTRINSIC
low complexity region	600	621	N/A	INTRINSIC
low complexity region	638	656	N/A	INTRINSIC
low complexity region	960	977	N/A	INTRINSIC
low complexity region	1004	1018	N/A	INTRINSIC
low complexity region	1070	1094	N/A	INTRINSIC
low complexity region	1307	1325	N/A	INTRINSIC
low complexity region	1388	1401	N/A	INTRINSIC
low complexity region	1413	1426	N/A	INTRINSIC
low complexity region	1572	1587	N/A	INTRINSIC
low complexity region	1678	1693	N/A	INTRINSIC
low complexity region	1798	1812	N/A	INTRINSIC
low complexity region	1904	1919	N/A	INTRINSIC
low complexity region	1943	1961	N/A	INTRINSIC
low complexity region	2088	2107	N/A	INTRINSIC
low complexity region	2111	2123	N/A	INTRINSIC
low complexity region	2161	2174	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132459
AA Change: R369S

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116429
Gene: ENSMUSG00000039262
AA Change: R369S

Domain	Start	End	E-Value	Type
Pfam:BAT2_N	1	119	9.8e-24	PFAM
low complexity region	287	302	N/A	INTRINSIC
low complexity region	316	322	N/A	INTRINSIC
low complexity region	341	352	N/A	INTRINSIC
coiled coil region	421	471	N/A	INTRINSIC
low complexity region	528	549	N/A	INTRINSIC
low complexity region	566	584	N/A	INTRINSIC
low complexity region	813	828	N/A	INTRINSIC
low complexity region	920	935	N/A	INTRINSIC
low complexity region	1040	1054	N/A	INTRINSIC
low complexity region	1146	1161	N/A	INTRINSIC
low complexity region	1185	1203	N/A	INTRINSIC
low complexity region	1330	1349	N/A	INTRINSIC
low complexity region	1353	1365	N/A	INTRINSIC
low complexity region	1403	1416	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd6	T	C	14: 8,049,808 (GRCm38)	L246S	possibly damaging	Het
Ahcyl	A	G	16: 45,975,035 (GRCm39)	I114T	probably benign	Het
Arhgap22	C	A	14: 33,020,727 (GRCm39)	H107N	probably damaging	Het
Atp6v0a2	G	A	5: 124,790,257 (GRCm39)	G480D	probably damaging	Het
Baz2b	T	C	2: 59,731,847 (GRCm39)	T2064A	possibly damaging	Het
Bop1	T	A	15: 76,338,688 (GRCm39)	N449I	probably benign	Het
C8g	C	T	2: 25,388,916 (GRCm39)		probably null	Het
Camp	T	G	9: 109,677,504 (GRCm39)	T110P		Het
Ccdc141	T	C	2: 76,885,073 (GRCm39)	T523A	possibly damaging	Het
Ccdc157	A	T	11: 4,094,598 (GRCm39)	I578N	probably damaging	Het
Ccdc187	C	T	2: 26,143,445 (GRCm39)	A1298T	possibly damaging	Het
Cdc20	C	T	4: 118,290,716 (GRCm39)	W428*	probably null	Het
Chd9	A	T	8: 91,732,360 (GRCm39)	R1293*	probably null	Het
Clca3a1	C	T	3: 144,453,310 (GRCm39)	G505S	probably benign	Het
Clptm1	C	A	7: 19,369,763 (GRCm39)	W382C	probably damaging	Het
Cnot1	A	T	8: 96,482,835 (GRCm39)	N739K	probably benign	Het
Cntnap5a	T	C	1: 116,508,217 (GRCm39)	I1243T	probably damaging	Het
Col12a1	T	G	9: 79,525,034 (GRCm39)	D2709A	probably damaging	Het
Cpm	T	C	10: 117,511,999 (GRCm39)		probably null	Het
Ctsd	C	A	7: 141,936,373 (GRCm39)	G143C	probably damaging	Het
Cux2	A	G	5: 122,025,461 (GRCm39)	V69A	possibly damaging	Het
Cyp2c66	A	T	19: 39,175,054 (GRCm39)	I485L	probably benign	Het
Cyp4a29	T	C	4: 115,105,772 (GRCm39)	V158A	probably damaging	Het
Dbx1	A	T	7: 49,282,403 (GRCm39)	D267E	probably damaging	Het
Dop1b	A	G	16: 93,544,531 (GRCm39)	Y224C	possibly damaging	Het
Dsg3	T	A	18: 20,666,578 (GRCm39)	C596S	probably damaging	Het
Fcgbpl1	G	A	7: 27,853,805 (GRCm39)	V1590I	possibly damaging	Het
Fgd2	G	A	17: 29,593,860 (GRCm39)	V456I	probably benign	Het
Gabra1	A	T	11: 42,026,401 (GRCm39)	I297N	probably damaging	Het
Grid1	A	G	14: 35,167,814 (GRCm39)	E446G	probably damaging	Het
H2bc12	T	C	13: 22,220,393 (GRCm39)	S113P	probably benign	Het
Hmmr	A	T	11: 40,598,210 (GRCm39)	Y667*	probably null	Het
Katnip	A	G	7: 125,442,092 (GRCm39)	Q693R	probably benign	Het
Klhl25	A	G	7: 75,515,757 (GRCm39)	D221G	probably damaging	Het
Krtcap2	T	C	3: 89,156,449 (GRCm39)		probably null	Het
Lipi	T	A	16: 75,352,706 (GRCm39)	N377I	possibly damaging	Het
Lrp2	C	A	2: 69,289,928 (GRCm39)	C3637F	probably damaging	Het
Mrgprh	T	C	17: 13,096,264 (GRCm39)	F168S	possibly damaging	Het
Naip6	T	C	13: 100,436,961 (GRCm39)	T521A	probably benign	Het
Nkpd1	A	T	7: 19,257,462 (GRCm39)	I414F	probably damaging	Het
Or4c99	T	A	2: 88,330,314 (GRCm39)	M295K	probably damaging	Het
Or52z13	A	T	7: 103,246,598 (GRCm39)	D25V	probably benign	Het
Pcdhb21	A	T	18: 37,648,385 (GRCm39)	I505F	probably damaging	Het
Plxna1	C	T	6: 89,308,253 (GRCm39)	R1278Q	probably damaging	Het
Pofut2	T	C	10: 77,095,220 (GRCm39)	S22P	possibly damaging	Het
Sema3e	T	A	5: 14,302,397 (GRCm39)	F641I	possibly damaging	Het
Sfswap	G	A	5: 129,618,463 (GRCm39)	V466I	possibly damaging	Het
Slc22a21	A	T	11: 53,850,051 (GRCm39)	V268E	possibly damaging	Het
Slc6a17	T	C	3: 107,380,930 (GRCm39)	D525G	possibly damaging	Het
Spata21	C	T	4: 140,822,467 (GRCm39)	T91I	possibly damaging	Het
Spryd7	T	G	14: 61,783,228 (GRCm39)	H98P	probably benign	Het
Sptb	G	T	12: 76,667,763 (GRCm39)	T778K	probably damaging	Het
Syne1	C	T	10: 5,209,270 (GRCm39)	R3411Q	probably benign	Het
Trank1	A	G	9: 111,202,193 (GRCm39)	I1607V	probably benign	Het
Ttll1	T	C	15: 83,380,516 (GRCm39)	D283G	probably benign	Het
Ufl1	G	A	4: 25,275,807 (GRCm39)	R199W	probably benign	Het
Vmn1r159	A	G	7: 22,542,616 (GRCm39)	S139P	probably damaging	Het
Vmn2r97	A	G	17: 19,134,770 (GRCm39)	I63V	probably benign	Het
Vps13a	T	C	19: 16,623,337 (GRCm39)	S2775G	possibly damaging	Het
Zfp992	C	T	4: 146,551,976 (GRCm39)	H566Y	probably damaging	Het

Other mutations in Prrc2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Prrc2b	APN	2	32,098,731 (GRCm39)	missense	probably damaging	1.00
IGL00846:Prrc2b	APN	2	32,089,109 (GRCm39)	splice site	probably benign
IGL00977:Prrc2b	APN	2	32,103,822 (GRCm39)	missense	probably benign	0.05
IGL01372:Prrc2b	APN	2	32,113,942 (GRCm39)	missense	probably damaging	0.99
IGL01993:Prrc2b	APN	2	32,114,057 (GRCm39)	missense	possibly damaging	0.47
IGL02097:Prrc2b	APN	2	32,081,513 (GRCm39)	splice site	probably benign
IGL02165:Prrc2b	APN	2	32,104,652 (GRCm39)	missense	probably damaging	1.00
IGL02184:Prrc2b	APN	2	32,111,467 (GRCm39)	missense	probably benign	0.19
IGL02238:Prrc2b	APN	2	32,103,429 (GRCm39)	missense	probably damaging	1.00
IGL02338:Prrc2b	APN	2	32,104,047 (GRCm39)	missense	probably benign	0.01
IGL02399:Prrc2b	APN	2	32,116,973 (GRCm39)	nonsense	probably null
IGL02597:Prrc2b	APN	2	32,109,625 (GRCm39)	missense	probably damaging	1.00
IGL02729:Prrc2b	APN	2	32,098,770 (GRCm39)	missense	probably damaging	0.99
IGL02743:Prrc2b	APN	2	32,084,441 (GRCm39)	missense	probably damaging	1.00
IGL02815:Prrc2b	APN	2	32,094,265 (GRCm39)	missense	probably damaging	1.00
IGL03159:Prrc2b	APN	2	32,084,498 (GRCm39)	missense	probably damaging	0.98
BB002:Prrc2b	UTSW	2	32,094,127 (GRCm39)	missense	probably damaging	1.00
BB012:Prrc2b	UTSW	2	32,094,127 (GRCm39)	missense	probably damaging	1.00
FR4304:Prrc2b	UTSW	2	32,111,179 (GRCm39)	missense	probably damaging	1.00
R0082:Prrc2b	UTSW	2	32,102,310 (GRCm39)	splice site	probably benign
R0105:Prrc2b	UTSW	2	32,103,323 (GRCm39)	nonsense	probably null
R0276:Prrc2b	UTSW	2	32,109,666 (GRCm39)	missense	probably damaging	0.97
R0325:Prrc2b	UTSW	2	32,089,103 (GRCm39)	missense	probably damaging	1.00
R0436:Prrc2b	UTSW	2	32,120,672 (GRCm39)	missense	probably damaging	1.00
R0595:Prrc2b	UTSW	2	32,073,189 (GRCm39)	missense	probably damaging	1.00
R0607:Prrc2b	UTSW	2	32,103,882 (GRCm39)	missense	probably damaging	0.99
R0650:Prrc2b	UTSW	2	32,119,267 (GRCm39)	splice site	probably benign
R1282:Prrc2b	UTSW	2	32,113,456 (GRCm39)	missense	probably damaging	0.96
R1421:Prrc2b	UTSW	2	32,090,990 (GRCm39)	missense	possibly damaging	0.65
R1452:Prrc2b	UTSW	2	32,084,997 (GRCm39)	missense	probably damaging	1.00
R1535:Prrc2b	UTSW	2	32,094,301 (GRCm39)	missense	probably benign	0.06
R1709:Prrc2b	UTSW	2	32,084,473 (GRCm39)	missense	probably damaging	1.00
R1710:Prrc2b	UTSW	2	32,102,234 (GRCm39)	missense	probably damaging	0.99
R2094:Prrc2b	UTSW	2	32,072,582 (GRCm39)	missense	probably damaging	1.00
R2202:Prrc2b	UTSW	2	32,113,476 (GRCm39)	missense	probably damaging	1.00
R2203:Prrc2b	UTSW	2	32,113,476 (GRCm39)	missense	probably damaging	1.00
R2204:Prrc2b	UTSW	2	32,113,476 (GRCm39)	missense	probably damaging	1.00
R2428:Prrc2b	UTSW	2	32,106,067 (GRCm39)	missense	probably benign	0.00
R2435:Prrc2b	UTSW	2	32,109,741 (GRCm39)	missense	probably damaging	0.99
R3439:Prrc2b	UTSW	2	32,096,359 (GRCm39)	missense	probably benign	0.01
R4175:Prrc2b	UTSW	2	32,108,820 (GRCm39)	intron	probably benign
R4710:Prrc2b	UTSW	2	32,083,869 (GRCm39)	missense	possibly damaging	0.80
R4728:Prrc2b	UTSW	2	32,120,637 (GRCm39)	missense	probably damaging	1.00
R4791:Prrc2b	UTSW	2	32,107,351 (GRCm39)	splice site	probably null
R4876:Prrc2b	UTSW	2	32,104,212 (GRCm39)	missense	probably benign	0.00
R4908:Prrc2b	UTSW	2	32,116,330 (GRCm39)	missense	possibly damaging	0.94
R4997:Prrc2b	UTSW	2	32,112,323 (GRCm39)	missense	probably damaging	1.00
R5240:Prrc2b	UTSW	2	32,096,408 (GRCm39)	missense	probably benign	0.01
R5276:Prrc2b	UTSW	2	32,104,734 (GRCm39)	missense	probably benign	0.09
R5455:Prrc2b	UTSW	2	32,111,355 (GRCm39)	critical splice acceptor site	probably null
R5821:Prrc2b	UTSW	2	32,102,144 (GRCm39)	missense	probably damaging	0.99
R5835:Prrc2b	UTSW	2	32,096,485 (GRCm39)	missense	probably benign	0.18
R5958:Prrc2b	UTSW	2	32,102,092 (GRCm39)	missense	possibly damaging	0.89
R6052:Prrc2b	UTSW	2	32,102,297 (GRCm39)	missense	possibly damaging	0.92
R6218:Prrc2b	UTSW	2	32,098,823 (GRCm39)	missense	probably damaging	1.00
R6428:Prrc2b	UTSW	2	32,116,508 (GRCm39)	splice site	probably null
R6505:Prrc2b	UTSW	2	32,112,332 (GRCm39)	missense	probably damaging	1.00
R6812:Prrc2b	UTSW	2	32,103,153 (GRCm39)	missense	probably benign	0.30
R6826:Prrc2b	UTSW	2	32,112,300 (GRCm39)	critical splice acceptor site	probably null
R6827:Prrc2b	UTSW	2	32,090,963 (GRCm39)	missense	probably benign	0.37
R7021:Prrc2b	UTSW	2	32,111,498 (GRCm39)	missense	probably damaging	1.00
R7078:Prrc2b	UTSW	2	32,103,531 (GRCm39)	missense	probably benign	0.01
R7081:Prrc2b	UTSW	2	32,103,075 (GRCm39)	missense	probably benign	0.12
R7101:Prrc2b	UTSW	2	32,117,005 (GRCm39)	missense	possibly damaging	0.68
R7215:Prrc2b	UTSW	2	32,119,309 (GRCm39)	missense	probably damaging	1.00
R7228:Prrc2b	UTSW	2	32,104,318 (GRCm39)	nonsense	probably null
R7566:Prrc2b	UTSW	2	32,084,402 (GRCm39)	missense	probably benign	0.02
R7719:Prrc2b	UTSW	2	32,107,280 (GRCm39)	nonsense	probably null
R7925:Prrc2b	UTSW	2	32,094,127 (GRCm39)	missense	probably damaging	1.00
R7999:Prrc2b	UTSW	2	32,084,426 (GRCm39)	missense	probably damaging	0.96
R8099:Prrc2b	UTSW	2	32,098,686 (GRCm39)	missense	probably benign	0.06
R8154:Prrc2b	UTSW	2	32,108,689 (GRCm39)	missense	probably benign	0.42
R8252:Prrc2b	UTSW	2	32,109,392 (GRCm39)	missense	possibly damaging	0.80
R8379:Prrc2b	UTSW	2	32,104,666 (GRCm39)	missense	probably damaging	0.96
R8485:Prrc2b	UTSW	2	32,102,105 (GRCm39)	missense	possibly damaging	0.83
R8845:Prrc2b	UTSW	2	32,106,162 (GRCm39)	missense	possibly damaging	0.89
R8845:Prrc2b	UTSW	2	32,102,105 (GRCm39)	missense	possibly damaging	0.83
R8919:Prrc2b	UTSW	2	32,104,953 (GRCm39)	missense	probably benign
R8982:Prrc2b	UTSW	2	32,102,134 (GRCm39)	missense	probably damaging	1.00
R9065:Prrc2b	UTSW	2	32,109,304 (GRCm39)	missense	probably damaging	0.99
R9127:Prrc2b	UTSW	2	32,103,764 (GRCm39)	missense	probably damaging	1.00
R9217:Prrc2b	UTSW	2	32,103,414 (GRCm39)	missense	probably damaging	1.00
R9338:Prrc2b	UTSW	2	32,098,779 (GRCm39)	missense	probably damaging	1.00
R9344:Prrc2b	UTSW	2	32,103,600 (GRCm39)	missense	probably benign	0.28
R9386:Prrc2b	UTSW	2	32,104,125 (GRCm39)	missense	probably benign
R9607:Prrc2b	UTSW	2	32,098,794 (GRCm39)	missense	probably damaging	0.99
R9670:Prrc2b	UTSW	2	32,103,199 (GRCm39)	missense	probably benign	0.00
R9706:Prrc2b	UTSW	2	32,107,300 (GRCm39)	missense	probably benign	0.00
Z1088:Prrc2b	UTSW	2	32,106,744 (GRCm39)	missense	probably damaging	1.00
Z1088:Prrc2b	UTSW	2	32,104,441 (GRCm39)	missense	probably benign	0.03
Z1177:Prrc2b	UTSW	2	32,116,364 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTCAAAATTCCCAGAGGCC -3'
(R):5'- TCGAGTCTGTGCGAATGTGC -3'

Sequencing Primer
(F):5'- ATTCCCAGAGGCCCCTGAC -3'
(R):5'- TGCGAATGTGCACGGGG -3'

Posted On

2022-10-06