Mutagenetix > Incidental Mutation

Incidental Mutation 'R2881:Pira13'

260314

Institutional Source

Beutler Lab

Gene Symbol

Pira13

Ensembl Gene

ENSMUSG00000074419

Gene Name

paired-Ig-like receptor A13

Synonyms

Gm15448, ENSMUSG00000074419

MMRRC Submission

040469-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R2881 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3819780-3828686 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 3828640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000092515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094911] [ENSMUST00000094911] [ENSMUST00000108619] [ENSMUST00000108620] [ENSMUST00000153846] [ENSMUST00000189095] [ENSMUST00000189095]

AlphaFold

F6PZL4

Predicted Effect

probably null
Transcript: ENSMUST00000094911
AA Change: M1L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419
AA Change: M1L

Domain	Start	End	E-Value	Type
IG_like	40	105	3.26e0	SMART
IG	129	315	1.37e-1	SMART
IG_like	237	302	2.2e-1	SMART
IG	328	415	6.31e-1	SMART
IG	430	519	8.01e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000094911
AA Change: M1L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419
AA Change: M1L

Domain	Start	End	E-Value	Type
IG_like	40	105	3.26e0	SMART
IG	129	315	1.37e-1	SMART
IG_like	237	302	2.2e-1	SMART
IG	328	415	6.31e-1	SMART
IG	430	519	8.01e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108619
AA Change: M1L

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

SMART Domains

Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419
AA Change: M1L

Domain	Start	End	E-Value	Type
IG_like	40	105	3.26e0	SMART
IG	129	315	1.37e-1	SMART
IG_like	237	302	2.2e-1	SMART
IG	328	415	6.31e-1	SMART
IG_like	429	517	6.02e0	SMART
IG	529	618	8.01e-3	SMART
low complexity region	637	646	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108620
AA Change: M1L

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

SMART Domains

Protein: ENSMUSP00000104260
Gene: ENSMUSG00000074419
AA Change: M1L

Domain	Start	End	E-Value	Type
IG_like	40	105	3.26e0	SMART
IG	129	315	1.37e-1	SMART
IG_like	237	302	2.2e-1	SMART
IG	328	415	6.31e-1	SMART
IG	430	519	8.01e-3	SMART
low complexity region	538	547	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000153846
AA Change: M1L

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

SMART Domains

Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: M1L

Domain	Start	End	E-Value	Type
IG	7	96	8.01e-3	SMART
low complexity region	132	141	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000189095
AA Change: M1L

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: M1L

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG_like	40	105	1.3e-2	SMART
IG	129	315	5.7e-4	SMART
IG_like	237	302	9e-4	SMART
IG	328	415	2.6e-3	SMART
IG_like	429	517	2.4e-2	SMART
IG	529	618	3.3e-5	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000189095
AA Change: M1L

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: M1L

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG_like	40	105	1.3e-2	SMART
IG	129	315	5.7e-4	SMART
IG_like	237	302	9e-4	SMART
IG	328	415	2.6e-3	SMART
IG_like	429	517	2.4e-2	SMART
IG	529	618	3.3e-5	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Atp9a	T	C	2: 168,548,134 (GRCm39)	Y7C	probably damaging	Het
Bsn	C	T	9: 107,990,266 (GRCm39)	A1829T	possibly damaging	Het
Camta2	A	T	11: 70,570,490 (GRCm39)		probably null	Het
Ces1d	C	A	8: 93,921,659 (GRCm39)	G35W	probably damaging	Het
Chd3	T	C	11: 69,242,946 (GRCm39)	D1425G	probably damaging	Het
Coasy	G	A	11: 100,976,675 (GRCm39)	V482I	possibly damaging	Het
Cyp2j9	A	T	4: 96,462,249 (GRCm39)	V344E	probably damaging	Het
Dhx30	A	T	9: 109,927,913 (GRCm39)	Y73*	probably null	Het
Ewsr1	C	A	11: 5,028,523 (GRCm39)		probably benign	Het
Faap100	T	C	11: 120,265,185 (GRCm39)	T564A	probably damaging	Het
Galc	A	G	12: 98,179,355 (GRCm39)	M518T	probably benign	Het
Gpatch8	A	G	11: 102,370,743 (GRCm39)	Y932H	unknown	Het
Hace1	T	A	10: 45,547,230 (GRCm39)	M471K	probably benign	Het
Irf2bpl	T	A	12: 86,929,551 (GRCm39)	D374V	probably damaging	Het
Lcor	A	G	19: 41,571,488 (GRCm39)	E227G	probably damaging	Het
Nbea	A	G	3: 55,554,779 (GRCm39)	V2623A	probably benign	Het
Or4a47	T	C	2: 89,675,328 (GRCm39)		probably null	Het
Or5ac24	A	T	16: 59,165,215 (GRCm39)	L283Q	probably damaging	Het
Pex5l	T	A	3: 33,047,152 (GRCm39)		probably null	Het
Plxnb1	T	A	9: 108,943,480 (GRCm39)	S1908T	probably damaging	Het
Sgo2b	T	C	8: 64,380,570 (GRCm39)	Y754C	probably damaging	Het
She	T	A	3: 89,739,231 (GRCm39)	C141S	probably benign	Het
Tex15	T	A	8: 34,064,935 (GRCm39)	L1455*	probably null	Het
Tfec	T	A	6: 16,835,232 (GRCm39)	H182L	probably benign	Het
Tgm6	T	C	2: 129,979,359 (GRCm39)	V163A	probably benign	Het
Vmn2r88	G	T	14: 51,656,146 (GRCm39)	C794F	probably damaging	Het
Zfp871	T	C	17: 32,994,407 (GRCm39)	K256R	probably damaging	Het
Zfp998	A	T	13: 66,579,329 (GRCm39)	C385S	probably damaging	Het

Other mutations in Pira13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Pira13	APN	7	3,826,088 (GRCm39)	missense	probably damaging	1.00
IGL01675:Pira13	APN	7	3,825,607 (GRCm39)	splice site	probably benign
IGL02040:Pira13	APN	7	3,824,516 (GRCm39)	splice site	probably benign
IGL02547:Pira13	APN	7	3,824,660 (GRCm39)	missense	probably damaging	0.98
IGL02749:Pira13	APN	7	3,825,624 (GRCm39)	missense	probably damaging	1.00
IGL02822:Pira13	APN	7	3,819,917 (GRCm39)	missense	possibly damaging	0.50
IGL02883:Pira13	APN	7	3,825,179 (GRCm39)	missense	possibly damaging	0.95
IGL03140:Pira13	APN	7	3,826,247 (GRCm39)	missense	probably benign	0.00
IGL03185:Pira13	APN	7	3,826,229 (GRCm39)	missense	probably damaging	1.00
IGL03212:Pira13	APN	7	3,826,132 (GRCm39)	missense	probably benign	0.00
R0347:Pira13	UTSW	7	3,825,873 (GRCm39)	missense	probably damaging	1.00
R0652:Pira13	UTSW	7	3,825,762 (GRCm39)	missense	probably benign	0.02
R0668:Pira13	UTSW	7	3,825,699 (GRCm39)	missense	probably damaging	0.99
R0724:Pira13	UTSW	7	3,819,871 (GRCm39)	missense	possibly damaging	0.83
R0735:Pira13	UTSW	7	3,824,781 (GRCm39)	missense	possibly damaging	0.79
R1074:Pira13	UTSW	7	3,826,069 (GRCm39)	missense	probably damaging	1.00
R1339:Pira13	UTSW	7	3,825,155 (GRCm39)	missense	probably damaging	1.00
R1541:Pira13	UTSW	7	3,819,988 (GRCm39)	missense	probably damaging	1.00
R1570:Pira13	UTSW	7	3,826,060 (GRCm39)	missense	probably benign	0.45
R1880:Pira13	UTSW	7	3,827,950 (GRCm39)	critical splice donor site	probably null
R1892:Pira13	UTSW	7	3,827,573 (GRCm39)	missense	probably benign	0.15
R1909:Pira13	UTSW	7	3,825,918 (GRCm39)	missense	probably benign	0.31
R2967:Pira13	UTSW	7	3,825,686 (GRCm39)	missense	probably damaging	1.00
R2983:Pira13	UTSW	7	3,824,574 (GRCm39)	missense	probably damaging	1.00
R4213:Pira13	UTSW	7	3,824,553 (GRCm39)	missense	probably damaging	1.00
R4319:Pira13	UTSW	7	3,825,754 (GRCm39)	missense	possibly damaging	0.46
R4320:Pira13	UTSW	7	3,825,754 (GRCm39)	missense	possibly damaging	0.46
R4321:Pira13	UTSW	7	3,825,754 (GRCm39)	missense	possibly damaging	0.46
R4322:Pira13	UTSW	7	3,825,754 (GRCm39)	missense	possibly damaging	0.46
R4323:Pira13	UTSW	7	3,825,754 (GRCm39)	missense	possibly damaging	0.46
R4536:Pira13	UTSW	7	3,825,251 (GRCm39)	missense	probably benign	0.00
R4597:Pira13	UTSW	7	3,825,154 (GRCm39)	missense	possibly damaging	0.81
R4713:Pira13	UTSW	7	3,825,680 (GRCm39)	nonsense	probably null
R4725:Pira13	UTSW	7	3,824,547 (GRCm39)	missense	probably benign
R4934:Pira13	UTSW	7	3,825,676 (GRCm39)	missense	probably damaging	1.00
R4971:Pira13	UTSW	7	3,825,805 (GRCm39)	missense	probably benign	0.00
R5138:Pira13	UTSW	7	3,827,556 (GRCm39)	nonsense	probably null
R5805:Pira13	UTSW	7	3,825,622 (GRCm39)	missense	probably benign	0.15
R5824:Pira13	UTSW	7	3,827,753 (GRCm39)	missense	probably damaging	1.00
R5841:Pira13	UTSW	7	3,825,898 (GRCm39)	nonsense	probably null
R6027:Pira13	UTSW	7	3,827,638 (GRCm39)	missense	possibly damaging	0.94
R6214:Pira13	UTSW	7	3,824,717 (GRCm39)	missense	probably damaging	0.99
R6329:Pira13	UTSW	7	3,825,850 (GRCm39)	missense	probably damaging	1.00
R6429:Pira13	UTSW	7	3,825,345 (GRCm39)	missense	possibly damaging	0.63
R6650:Pira13	UTSW	7	3,819,898 (GRCm39)	missense	possibly damaging	0.83
R6681:Pira13	UTSW	7	3,825,251 (GRCm39)	missense	probably benign	0.00
R6961:Pira13	UTSW	7	3,828,124 (GRCm39)	missense	probably damaging	1.00
R6989:Pira13	UTSW	7	3,825,163 (GRCm39)	missense	possibly damaging	0.95
R7025:Pira13	UTSW	7	3,824,261 (GRCm39)	nonsense	probably null
R7071:Pira13	UTSW	7	3,824,667 (GRCm39)	missense	unknown
R7194:Pira13	UTSW	7	3,827,792 (GRCm39)	missense
R7215:Pira13	UTSW	7	3,825,310 (GRCm39)	missense	unknown
R7580:Pira13	UTSW	7	3,827,611 (GRCm39)	missense	unknown
R7776:Pira13	UTSW	7	3,826,246 (GRCm39)	missense	unknown
R7863:Pira13	UTSW	7	3,827,801 (GRCm39)	critical splice acceptor site	probably null
R7909:Pira13	UTSW	7	3,824,708 (GRCm39)	missense	unknown
R8131:Pira13	UTSW	7	3,825,161 (GRCm39)	nonsense	probably null
R8178:Pira13	UTSW	7	3,824,260 (GRCm39)	missense	unknown
R8188:Pira13	UTSW	7	3,826,126 (GRCm39)	missense	unknown
R8220:Pira13	UTSW	7	3,825,903 (GRCm39)	missense	unknown
R8226:Pira13	UTSW	7	3,828,109 (GRCm39)	missense
R8441:Pira13	UTSW	7	3,826,301 (GRCm39)	nonsense	probably null
R8739:Pira13	UTSW	7	3,828,188 (GRCm39)	missense
R8785:Pira13	UTSW	7	3,819,928 (GRCm39)	missense	unknown
R8912:Pira13	UTSW	7	3,825,818 (GRCm39)	missense	unknown
R8941:Pira13	UTSW	7	3,825,380 (GRCm39)	missense	probably damaging	1.00
R8990:Pira13	UTSW	7	3,824,273 (GRCm39)	missense	unknown
R9049:Pira13	UTSW	7	3,819,890 (GRCm39)	missense	unknown
R9090:Pira13	UTSW	7	3,819,997 (GRCm39)	missense	unknown
R9134:Pira13	UTSW	7	3,825,182 (GRCm39)	missense
R9136:Pira13	UTSW	7	3,826,285 (GRCm39)	missense
R9244:Pira13	UTSW	7	3,825,226 (GRCm39)	missense	unknown
R9271:Pira13	UTSW	7	3,819,997 (GRCm39)	missense	unknown
R9328:Pira13	UTSW	7	3,827,580 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGTGAGTCCTGGAAGAGAGTTC -3'
(R):5'- CTAATGGCAGAGGGTCTACTGC -3'

Sequencing Primer
(F):5'- CTTTGTAAGAGATTTGTCCCTAAGG -3'
(R):5'- TGGCCTAGTCACACCATTGAG -3'

Posted On

2015-01-23