Mutagenetix > Incidental Mutation

Incidental Mutation 'R0062:Pja2'

46658

Institutional Source

Beutler Lab

Gene Symbol

Pja2

Ensembl Gene

ENSMUSG00000024083

Gene Name

praja ring finger ubiquitin ligase 2

Synonyms

Neurodap1

MMRRC Submission

038354-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0062 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64588001-64638878 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 64615966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 310 (V310L)

Ref Sequence

ENSEMBL: ENSMUSP00000134380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024888] [ENSMUST00000024889] [ENSMUST00000172733] [ENSMUST00000172818]

AlphaFold

Q80U04

Predicted Effect

probably damaging
Transcript: ENSMUST00000024888
AA Change: V310L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000024888
Gene: ENSMUSG00000024083
AA Change: V310L

Domain	Start	End	E-Value	Type
low complexity region	532	548	N/A	INTRINSIC
RING	633	673	3.84e-6	SMART
low complexity region	678	703	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000024889
AA Change: V310L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000024889
Gene: ENSMUSG00000024083
AA Change: V310L

Domain	Start	End	E-Value	Type
low complexity region	470	486	N/A	INTRINSIC
RING	571	611	3.84e-6	SMART
low complexity region	616	641	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000172733
AA Change: V310L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133730
Gene: ENSMUSG00000024083
AA Change: V310L

Domain	Start	End	E-Value	Type
low complexity region	470	486	N/A	INTRINSIC
RING	571	611	3.84e-6	SMART
low complexity region	616	641	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000172818
AA Change: V310L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000134380
Gene: ENSMUSG00000024083
AA Change: V310L

Domain	Start	End	E-Value	Type
low complexity region	532	548	N/A	INTRINSIC
RING	633	673	3.84e-6	SMART
low complexity region	678	703	N/A	INTRINSIC

Meta Mutation Damage Score

0.2692

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	G	T	10: 120,614,511 (GRCm39)		probably benign	Het
4930407I10Rik	T	A	15: 81,947,267 (GRCm39)	I388K	probably benign	Het
4930407I10Rik	T	A	15: 81,950,504 (GRCm39)	V1467D	probably damaging	Het
Abi2	T	A	1: 60,492,884 (GRCm39)	N182K	probably benign	Het
Adam25	A	T	8: 41,207,829 (GRCm39)	H365L	probably damaging	Het
Ankfy1	T	A	11: 72,603,030 (GRCm39)	Y20N	probably damaging	Het
Aqp11	C	T	7: 97,387,068 (GRCm39)	V43M	probably benign	Het
Arhgef10l	A	T	4: 140,279,843 (GRCm39)	L503Q	probably damaging	Het
Arhgef28	A	T	13: 98,093,150 (GRCm39)	I977N	possibly damaging	Het
Cacna1b	A	G	2: 24,648,343 (GRCm39)	Y161H	probably damaging	Het
Cacna1c	T	C	6: 118,579,198 (GRCm39)	D1480G	probably damaging	Het
Clk3	A	G	9: 57,659,449 (GRCm39)	M533T	probably damaging	Het
Cnbd1	A	G	4: 18,860,504 (GRCm39)	I414T	possibly damaging	Het
Commd3	A	T	2: 18,679,514 (GRCm39)		probably null	Het
Crybg1	G	T	10: 43,873,902 (GRCm39)	Q1069K	probably damaging	Het
Dnah8	T	A	17: 30,984,685 (GRCm39)	F3128I	probably damaging	Het
Dnmt3b	C	T	2: 153,514,192 (GRCm39)	P382S	probably benign	Het
Dock1	A	G	7: 134,379,224 (GRCm39)		probably null	Het
Dpysl3	C	T	18: 43,466,941 (GRCm39)		probably null	Het
Ebf2	T	A	14: 67,475,989 (GRCm39)		probably benign	Het
F830045P16Rik	T	C	2: 129,305,624 (GRCm39)	E250G	possibly damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fetub	T	C	16: 22,747,836 (GRCm39)		probably benign	Het
Fmn2	A	T	1: 174,436,015 (GRCm39)		probably benign	Het
Fryl	T	C	5: 73,179,621 (GRCm39)	I2929V	probably benign	Het
Gm11232	T	A	4: 71,675,112 (GRCm39)	Q130L	possibly damaging	Het
Gm9637	G	T	14: 19,402,570 (GRCm38)		noncoding transcript	Het
Gna15	A	G	10: 81,348,239 (GRCm39)		probably null	Het
Gtf3c5	T	C	2: 28,462,198 (GRCm39)		probably benign	Het
Irs2	G	A	8: 11,055,723 (GRCm39)	T903I	possibly damaging	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Izumo1	A	G	7: 45,276,621 (GRCm39)	T395A	probably benign	Het
Kcnd2	G	A	6: 21,727,225 (GRCm39)	V593M	possibly damaging	Het
Kprp	T	C	3: 92,731,989 (GRCm39)	S354G	probably damaging	Het
Krt72	T	C	15: 101,694,443 (GRCm39)	K151E	probably damaging	Het
Letm2	A	T	8: 26,077,464 (GRCm39)		probably benign	Het
Lipe	A	G	7: 25,097,874 (GRCm39)	V23A	possibly damaging	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Mef2c	A	G	13: 83,800,992 (GRCm39)	N231D	possibly damaging	Het
Mtdh	T	A	15: 34,134,426 (GRCm39)		probably benign	Het
Mthfd1	G	A	12: 76,344,363 (GRCm39)		probably benign	Het
Nbeal1	C	A	1: 60,286,876 (GRCm39)	N899K	probably benign	Het
Noc3l	T	C	19: 38,803,253 (GRCm39)	S129G	probably benign	Het
Odad2	T	A	18: 7,129,593 (GRCm39)		probably benign	Het
Or10ak14	T	C	4: 118,611,100 (GRCm39)	I212V	probably benign	Het
Or2aj6	T	C	16: 19,443,167 (GRCm39)	M228V	probably benign	Het
Or4c118	T	C	2: 88,974,966 (GRCm39)	I134V	possibly damaging	Het
Or8b1c	T	A	9: 38,384,554 (GRCm39)	D170E	probably benign	Het
Pik3r6	T	A	11: 68,419,635 (GRCm39)	Y149N	probably damaging	Het
Plcd3	G	A	11: 102,965,720 (GRCm39)	A504V	probably benign	Het
Rint1	G	A	5: 23,992,826 (GRCm39)		probably benign	Het
Ripor3	A	G	2: 167,826,358 (GRCm39)		probably benign	Het
Rpa2	C	A	4: 132,505,125 (GRCm39)	N251K	probably damaging	Het
Rttn	T	C	18: 89,029,090 (GRCm39)		probably null	Het
Ryr2	C	T	13: 11,884,002 (GRCm39)		probably null	Het
Scara3	T	C	14: 66,168,417 (GRCm39)	N400S	probably damaging	Het
Slc7a6	G	T	8: 106,916,263 (GRCm39)	V180L	possibly damaging	Het
Slc7a6	T	A	8: 106,916,264 (GRCm39)	V180E	probably damaging	Het
Slc8b1	T	A	5: 120,659,928 (GRCm39)		probably null	Het
Slco1a4	G	A	6: 141,765,205 (GRCm39)	Q346*	probably null	Het
Stk32b	A	G	5: 37,618,792 (GRCm39)	S229P	probably damaging	Het
Syde2	A	G	3: 145,704,508 (GRCm39)	R487G	probably benign	Het
Tbc1d2b	T	C	9: 90,104,355 (GRCm39)		probably benign	Het
Ticrr	T	C	7: 79,317,654 (GRCm39)	V396A	probably benign	Het
Trrap	T	C	5: 144,719,003 (GRCm39)		probably benign	Het
Vmn1r124	A	T	7: 20,993,743 (GRCm39)	I267K	probably benign	Het
Vps13a	A	T	19: 16,646,054 (GRCm39)	H1994Q	probably damaging	Het
Wdr36	T	G	18: 32,997,802 (GRCm39)	V820G	possibly damaging	Het
Wdr83	G	A	8: 85,806,456 (GRCm39)	T114I	possibly damaging	Het
Zc3h7a	T	C	16: 10,957,011 (GRCm39)	N866S	probably damaging	Het
Zfc3h1	A	G	10: 115,252,658 (GRCm39)	K1324E	probably benign	Het

Other mutations in Pja2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Pja2	APN	17	64,590,526 (GRCm39)	missense	probably damaging	1.00
IGL00945:Pja2	APN	17	64,616,391 (GRCm39)	missense	probably benign	0.00
IGL01347:Pja2	APN	17	64,620,023 (GRCm39)	missense	probably benign	0.34
IGL01831:Pja2	APN	17	64,616,402 (GRCm39)	missense	probably benign	0.02
IGL01977:Pja2	APN	17	64,604,821 (GRCm39)	missense	probably benign	0.02
IGL02812:Pja2	APN	17	64,604,789 (GRCm39)	missense	probably damaging	1.00
G1patch:Pja2	UTSW	17	64,596,962 (GRCm39)	missense	probably damaging	1.00
H8441:Pja2	UTSW	17	64,618,192 (GRCm39)	missense	probably damaging	1.00
R0062:Pja2	UTSW	17	64,615,966 (GRCm39)	missense	probably damaging	1.00
R0411:Pja2	UTSW	17	64,594,516 (GRCm39)	splice site	probably benign
R1240:Pja2	UTSW	17	64,616,613 (GRCm39)	missense	probably benign	0.00
R1528:Pja2	UTSW	17	64,616,217 (GRCm39)	missense	possibly damaging	0.75
R1996:Pja2	UTSW	17	64,594,639 (GRCm39)	critical splice acceptor site	probably null
R2111:Pja2	UTSW	17	64,597,031 (GRCm39)	missense	probably damaging	1.00
R2162:Pja2	UTSW	17	64,616,397 (GRCm39)	missense	probably benign	0.00
R2201:Pja2	UTSW	17	64,618,162 (GRCm39)	splice site	probably benign
R2276:Pja2	UTSW	17	64,599,865 (GRCm39)	missense	probably damaging	1.00
R2278:Pja2	UTSW	17	64,599,865 (GRCm39)	missense	probably damaging	1.00
R3831:Pja2	UTSW	17	64,616,397 (GRCm39)	missense	probably benign	0.00
R3833:Pja2	UTSW	17	64,616,397 (GRCm39)	missense	probably benign	0.00
R4598:Pja2	UTSW	17	64,620,025 (GRCm39)	start codon destroyed	probably null	0.69
R4801:Pja2	UTSW	17	64,599,857 (GRCm39)	missense	probably damaging	1.00
R4802:Pja2	UTSW	17	64,599,857 (GRCm39)	missense	probably damaging	1.00
R4983:Pja2	UTSW	17	64,616,053 (GRCm39)	missense	probably benign	0.00
R5634:Pja2	UTSW	17	64,599,862 (GRCm39)	missense	probably damaging	1.00
R5862:Pja2	UTSW	17	64,604,821 (GRCm39)	missense	probably benign	0.02
R5905:Pja2	UTSW	17	64,616,085 (GRCm39)	missense	probably benign	0.26
R6028:Pja2	UTSW	17	64,616,085 (GRCm39)	missense	probably benign	0.26
R6382:Pja2	UTSW	17	64,616,610 (GRCm39)	missense	probably benign	0.07
R6650:Pja2	UTSW	17	64,599,936 (GRCm39)	missense	probably damaging	1.00
R6725:Pja2	UTSW	17	64,596,962 (GRCm39)	missense	probably damaging	1.00
R6976:Pja2	UTSW	17	64,615,954 (GRCm39)	missense	probably damaging	1.00
R7250:Pja2	UTSW	17	64,616,451 (GRCm39)	missense	probably benign	0.01
R7389:Pja2	UTSW	17	64,604,722 (GRCm39)	missense	probably damaging	1.00
R7477:Pja2	UTSW	17	64,616,640 (GRCm39)	missense	possibly damaging	0.87
R7549:Pja2	UTSW	17	64,616,410 (GRCm39)	missense	probably damaging	0.98
R8405:Pja2	UTSW	17	64,616,505 (GRCm39)	missense	possibly damaging	0.87
R8458:Pja2	UTSW	17	64,599,843 (GRCm39)	missense	probably damaging	1.00
R8700:Pja2	UTSW	17	64,599,949 (GRCm39)	missense	probably damaging	1.00
R9128:Pja2	UTSW	17	64,616,470 (GRCm39)	missense	probably benign
R9336:Pja2	UTSW	17	64,590,432 (GRCm39)	missense	unknown
R9356:Pja2	UTSW	17	64,618,204 (GRCm39)	missense	probably damaging	1.00
R9658:Pja2	UTSW	17	64,599,868 (GRCm39)	missense	probably damaging	1.00
Z1176:Pja2	UTSW	17	64,599,864 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTGGAGTTAGGAACATGCAGTCG -3'
(R):5'- GTGCAGTCTTTGAGCTGGAAAATGG -3'

Sequencing Primer
(F):5'- AACATGCAGTCGTGGTCTC -3'
(R):5'- GAAAAGTTCTACTGCCGATGCTG -3'

Posted On

2013-06-11