Mutagenetix > Incidental Mutation

Incidental Mutation 'R5958:Prrc2b'

471266

Institutional Source

Beutler Lab

Gene Symbol

Prrc2b

Ensembl Gene

ENSMUSG00000039262

Gene Name

proline-rich coiled-coil 2B

Synonyms

5830434P21Rik, Bat2l

MMRRC Submission

044145-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5958 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32041094-32124549 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32102092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 722 (M722V)

Ref Sequence

ENSEMBL: ENSMUSP00000035734 (fasta)

Gene Model

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

AlphaFold

Q7TPM1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036691
AA Change: M722V

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035734
Gene: ENSMUSG00000039262
AA Change: M722V

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 benign
Transcript: ENSMUST00000069817
AA Change: M722V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000064892
Gene: ENSMUSG00000039262
AA Change: M722V

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

noncoding transcript
Transcript: ENSMUST00000123270

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

unknown
Transcript: ENSMUST00000132459
AA Change: M649V

SMART Domains

Protein: ENSMUSP00000116429
Gene: ENSMUSG00000039262
AA Change: M649V

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 benign
Transcript: ENSMUST00000156313

SMART Domains

Protein: ENSMUSP00000114994
Gene: ENSMUSG00000039262

Domain	Start	End	E-Value	Type
low complexity region	125	140	N/A	INTRINSIC
low complexity region	231	246	N/A	INTRINSIC

Meta Mutation Damage Score

0.0748

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.0%

Validation Efficiency

95% (75/79)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,030,367 (GRCm39)	D616G	probably damaging	Het
Adam30	A	G	3: 98,069,280 (GRCm39)	N243S	probably damaging	Het
Adck1	A	G	12: 88,425,822 (GRCm39)	I417V	probably benign	Het
Adcy4	T	C	14: 56,016,556 (GRCm39)		probably null	Het
Ahctf1	A	G	1: 179,574,107 (GRCm39)		probably benign	Het
Ap1s3	G	T	1: 79,591,960 (GRCm39)	T130K	probably benign	Het
Apold1	C	T	6: 134,960,686 (GRCm39)	R47C	probably damaging	Het
Atp13a5	T	C	16: 29,157,860 (GRCm39)	K197E	probably damaging	Het
Camk2d	T	G	3: 126,573,514 (GRCm39)		probably benign	Het
Ccin	A	G	4: 43,983,854 (GRCm39)	D87G	probably damaging	Het
Cdan1	T	C	2: 120,554,383 (GRCm39)	T889A	possibly damaging	Het
Cel	T	A	2: 28,450,957 (GRCm39)	Y102F	probably damaging	Het
Cma1	A	C	14: 56,179,113 (GRCm39)	*248E	probably null	Het
Cnbd1	T	C	4: 18,862,056 (GRCm39)	N378S	probably benign	Het
Col18a1	T	A	10: 76,932,231 (GRCm39)	Y533F	probably benign	Het
Cpb2	T	C	14: 75,520,827 (GRCm39)	I414T	probably damaging	Het
Dagla	T	C	19: 10,225,788 (GRCm39)	Y792C	probably damaging	Het
Dlgap5	T	A	14: 47,651,211 (GRCm39)	E107D	probably damaging	Het
Dmtf1	T	A	5: 9,172,415 (GRCm39)		probably benign	Het
Dst	A	G	1: 34,225,131 (GRCm39)	K1682R	probably damaging	Het
Epyc	A	T	10: 97,485,704 (GRCm39)	H48L	probably benign	Het
Fam135b	A	G	15: 71,334,744 (GRCm39)	S817P		Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Foxk1	T	C	5: 142,442,429 (GRCm39)	V693A	probably benign	Het
Fuom	A	T	7: 139,679,811 (GRCm39)	F122I	probably damaging	Het
Glg1	G	T	8: 111,985,736 (GRCm39)	H31Q	probably benign	Het
Gm13199	C	T	2: 5,867,065 (GRCm39)		probably benign	Het
Hdac9	G	T	12: 34,423,882 (GRCm39)	Q595K	probably damaging	Het
Homez	C	T	14: 55,094,298 (GRCm39)	R119Q	probably benign	Het
Ifit3b	A	G	19: 34,589,142 (GRCm39)	H106R	probably benign	Het
Ift57	C	T	16: 49,531,471 (GRCm39)		probably benign	Het
Itk	A	T	11: 46,235,682 (GRCm39)		probably benign	Het
Katnip	A	G	7: 125,412,807 (GRCm39)	K358E	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Klhdc3	A	T	17: 46,986,028 (GRCm39)	V378D	probably benign	Het
Klhl14	A	G	18: 21,698,592 (GRCm39)	I407T	probably damaging	Het
Meioc	A	T	11: 102,565,979 (GRCm39)	T476S	probably benign	Het
Olfm3	G	A	3: 114,915,955 (GRCm39)	V276I	probably damaging	Het
Or5b24	T	C	19: 12,912,411 (GRCm39)	F103S	probably damaging	Het
Pcm1	T	C	8: 41,782,016 (GRCm39)	L1972P	probably damaging	Het
Pcsk6	A	G	7: 65,693,359 (GRCm39)	E3G	probably damaging	Het
Pctp	A	G	11: 89,876,945 (GRCm39)	S185P	probably benign	Het
Pik3c2a	A	G	7: 115,961,799 (GRCm39)	L1010S	probably damaging	Het
Pitpnm3	G	T	11: 72,003,193 (GRCm39)		probably null	Het
Rad18	T	C	6: 112,673,603 (GRCm39)		probably benign	Het
Senp6	T	C	9: 80,049,576 (GRCm39)	S1036P	probably damaging	Het
Slc22a22	C	T	15: 57,126,932 (GRCm39)	A46T	possibly damaging	Het
Sox15	C	T	11: 69,546,556 (GRCm39)	R120C	probably damaging	Het
Spag6l	C	A	16: 16,580,885 (GRCm39)		probably null	Het
Strc	T	C	2: 121,207,403 (GRCm39)	H656R	possibly damaging	Het
Tanc2	A	G	11: 105,731,451 (GRCm39)	D409G	probably benign	Het
Thap11	A	G	8: 106,582,696 (GRCm39)	H235R	probably damaging	Het
Thsd7a	T	A	6: 12,337,261 (GRCm39)	Y1252F	probably benign	Het
Tlr11	T	G	14: 50,598,234 (GRCm39)	N73K	probably damaging	Het
Ttll10	T	C	4: 156,120,523 (GRCm39)		probably null	Het
Ubr4	A	T	4: 139,182,949 (GRCm39)	N445I	probably damaging	Het
Ugt1a6a	C	T	1: 88,143,510 (GRCm39)		probably benign	Het
Urb2	T	C	8: 124,756,398 (GRCm39)	F702L	probably benign	Het
Utp14b	A	T	1: 78,642,659 (GRCm39)	K186*	probably null	Het
Utp14b	A	T	1: 78,642,660 (GRCm39)	K186M	probably damaging	Het
Vmn2r16	T	A	5: 109,510,153 (GRCm39)	M512K	possibly damaging	Het
Vmn2r27	T	A	6: 124,208,686 (GRCm39)	M20L	probably benign	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
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
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'- TGGTACACCTGCATACCAGC -3'
(R):5'- GGAAGCTCACCTGACATGCATG -3'

Sequencing Primer
(F):5'- TGCATACCAGCAGGCTCC -3'
(R):5'- CAGAGTGTCAGCAGACTTCG -3'

Posted On

2017-03-31