Mutagenetix > Incidental Mutation

Incidental Mutation 'R8845:Prrc2b'

674629

Institutional Source

Beutler Lab

Gene Symbol

Prrc2b

Ensembl Gene

ENSMUSG00000039262

Gene Name

proline-rich coiled-coil 2B

Synonyms

5830434P21Rik, Bat2l

MMRRC Submission

068734-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8845 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32041094-32124549 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32106162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 1514 (K1514I)

Ref Sequence

ENSEMBL: ENSMUSP00000064892 (fasta)

Gene Model

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

AlphaFold

Q7TPM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000036691
AA Change: K827I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035734
Gene: ENSMUSG00000039262
AA Change: K827I

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

possibly damaging
Transcript: ENSMUST00000069817
AA Change: K1514I

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000064892
Gene: ENSMUSG00000039262
AA Change: K1514I

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

probably benign
Transcript: ENSMUST00000128936

SMART Domains

Protein: ENSMUSP00000121664
Gene: ENSMUSG00000039262

Domain	Start	End	E-Value	Type
low complexity region	53	68	N/A	INTRINSIC
low complexity region	159	174	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000132459
AA Change: K754I

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116429
Gene: ENSMUSG00000039262
AA Change: K754I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000156313
AA Change: K66I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114994
Gene: ENSMUSG00000039262
AA Change: K66I

Domain	Start	End	E-Value	Type
low complexity region	125	140	N/A	INTRINSIC
low complexity region	231	246	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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,846,428 (GRCm39)	P627S	probably benign	Het
Abca4	G	A	3: 121,930,651 (GRCm39)	V1383M	probably damaging	Het
Acer3	A	G	7: 97,910,832 (GRCm39)	S77P	probably damaging	Het
Adgrv1	G	T	13: 81,629,478 (GRCm39)	T3640N	possibly damaging	Het
Agmo	T	C	12: 37,294,364 (GRCm39)	L104P	probably benign	Het
Alox12	C	A	11: 70,137,877 (GRCm39)	G421V	probably damaging	Het
Atad2	A	G	15: 57,989,532 (GRCm39)	V182A	probably damaging	Het
Bnc2	C	T	4: 84,194,338 (GRCm39)	A929T	possibly damaging	Het
Bola3	T	C	6: 83,335,154 (GRCm39)	M83T	probably damaging	Het
Brca2	T	C	5: 150,466,847 (GRCm39)	F2204L	possibly damaging	Het
Cachd1	T	C	4: 100,810,343 (GRCm39)	V315A	probably benign	Het
Ccdc154	C	A	17: 25,390,138 (GRCm39)	N547K	probably damaging	Het
Ccdc62	C	A	5: 124,092,470 (GRCm39)	T485K	probably benign	Het
Cdc40	G	A	10: 40,717,790 (GRCm39)	T371I	possibly damaging	Het
Cep112	T	C	11: 108,461,193 (GRCm39)	F657L	probably damaging	Het
Cirbp	A	G	10: 80,005,931 (GRCm39)	D62G	probably damaging	Het
Cntf	A	C	19: 12,741,664 (GRCm39)	S65R	probably benign	Het
Cxxc4	CGGC	CGGCGGGGGC	3: 133,945,912 (GRCm39)		probably benign	Het
Cyfip1	G	T	7: 55,579,834 (GRCm39)	G1229V	probably benign	Het
Cyp4a30b	A	C	4: 115,315,493 (GRCm39)	N238T	probably benign	Het
Dbx2	G	A	15: 95,552,517 (GRCm39)	R43C	probably benign	Het
Efcab3	A	T	11: 104,899,787 (GRCm39)	I4350F	possibly damaging	Het
Fbxw13	G	T	9: 109,023,833 (GRCm39)	F70L	possibly damaging	Het
Fhod3	A	G	18: 25,265,976 (GRCm39)	T1555A	probably damaging	Het
Fnbp4	A	G	2: 90,606,368 (GRCm39)	M763V	probably benign	Het
Gdf7	A	G	12: 8,348,905 (GRCm39)	S131P	unknown	Het
Gm9938	A	T	19: 23,701,941 (GRCm39)	E93V	unknown	Het
Golim4	A	T	3: 75,802,272 (GRCm39)	M340K	probably damaging	Het
Gphn	A	G	12: 78,538,953 (GRCm39)	S200G	probably benign	Het
Hpse	T	C	5: 100,859,248 (GRCm39)	D99G	probably benign	Het
Iqgap2	A	T	13: 95,794,392 (GRCm39)	N1193K	possibly damaging	Het
Jag2	A	T	12: 112,883,714 (GRCm39)	C256S	probably damaging	Het
Ldb3	T	C	14: 34,258,634 (GRCm39)	Y657C	probably damaging	Het
Lmtk2	T	A	5: 144,110,704 (GRCm39)	Y475N	probably damaging	Het
Mep1b	A	T	18: 21,230,379 (GRCm39)	K644*	probably null	Het
Muc4	A	C	16: 32,576,889 (GRCm39)	T60P	possibly damaging	Het
Nckap5	G	T	1: 125,909,423 (GRCm39)	Q1603K	possibly damaging	Het
Npy6r	C	T	18: 44,408,606 (GRCm39)	T9I	probably benign	Het
Nsd2	T	C	5: 34,039,885 (GRCm39)	C846R	probably damaging	Het
Oard1	A	C	17: 48,721,259 (GRCm39)	K64Q	probably benign	Het
Or4c103	T	A	2: 88,513,735 (GRCm39)	I114F	possibly damaging	Het
Or52e19b	A	T	7: 103,032,357 (GRCm39)	V284D	probably damaging	Het
Or5w8	G	T	2: 87,687,545 (GRCm39)	V9L	probably benign	Het
Or6c208	A	G	10: 129,224,065 (GRCm39)	T188A	probably damaging	Het
Pkhd1l1	T	G	15: 44,368,650 (GRCm39)	S823A	probably benign	Het
Pla2r1	A	G	2: 60,259,053 (GRCm39)	S1112P	possibly damaging	Het
Plekho2	T	C	9: 65,465,963 (GRCm39)	T142A	probably damaging	Het
Prr35	A	T	17: 26,165,823 (GRCm39)	V488E	probably benign	Het
Rin1	A	T	19: 5,104,947 (GRCm39)	D669V	probably damaging	Het
Setd1b	C	T	5: 123,282,310 (GRCm39)	A146V	unknown	Het
Sigmar1	G	A	4: 41,741,234 (GRCm39)	R7W	probably damaging	Het
Slain1	C	T	14: 103,925,747 (GRCm39)	T365I	possibly damaging	Het
Slc38a2	G	A	15: 96,592,900 (GRCm39)	T186I	probably benign	Het
Tas2r130	A	T	6: 131,607,642 (GRCm39)	V51E	probably benign	Het
Tgfb1i1	A	T	7: 127,851,690 (GRCm39)	H332L	possibly damaging	Het
Trav7n-4	T	C	14: 53,328,846 (GRCm39)	L15S	probably damaging	Het
Ttc28	T	C	5: 111,372,041 (GRCm39)	V861A	probably benign	Het
Ttn	A	G	2: 76,632,658 (GRCm39)	I14132T	probably damaging	Het
Ttn	T	C	2: 76,606,380 (GRCm39)	E18143G	probably damaging	Het
Vmn1r203	C	T	13: 22,708,720 (GRCm39)	S167L	possibly damaging	Het
Vmn2r108	A	T	17: 20,691,361 (GRCm39)	H387Q	probably benign	Het
Vps33a	A	T	5: 123,709,538 (GRCm39)		probably null	Het
Vps50	G	A	6: 3,504,926 (GRCm39)	V31I	probably benign	Het
Wdcp	A	G	12: 4,901,439 (GRCm39)	T432A	probably benign	Het
Wdr36	T	A	18: 32,994,098 (GRCm39)	Y645*	probably null	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	32,102,105 (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
R9601:Prrc2b	UTSW	2	32,090,953 (GRCm39)	missense	probably damaging	1.00
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'- GGAACTAGATAGCTGCTGTGTCTG -3'
(R):5'- ATACAGATGTCACTGGGGCTC -3'

Sequencing Primer
(F):5'- TGGGCCTCGTGCATTCAGATC -3'
(R):5'- TCCATAGCCCAGGTCAAA -3'

Posted On

2021-07-15