Mutagenetix > Incidental Mutation

Incidental Mutation 'R0761:Pira12'

70088

Institutional Source

Beutler Lab

Gene Symbol

Pira12

Ensembl Gene

ENSMUSG00000074417

Gene Name

paired-Ig-like receptor A12

Synonyms

Gm14548

MMRRC Submission

038941-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R0761 (G1)

Quality Score

103

Status

Not validated

Chromosome

Chromosomal Location

3887241-3901119 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 3896978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000070073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070639]

AlphaFold

E9Q1Z6

Predicted Effect

probably null
Transcript: ENSMUST00000070639

SMART Domains

Protein: ENSMUSP00000070073
Gene: ENSMUSG00000074417

Domain	Start	End	E-Value	Type
IG	34	118	6.41e-2	SMART
IG	129	315	8.59e-3	SMART
IG_like	237	302	1.91e-1	SMART
IG	328	415	3.36e0	SMART
IG_like	435	502	3.11e0	SMART
IG	529	618	8.59e-3	SMART
low complexity region	627	636	N/A	INTRINSIC
low complexity region	654	663	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.7%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,833 (GRCm39)	Y133C	probably benign	Het
Adcy5	G	A	16: 35,091,195 (GRCm39)		probably benign	Het
Asb17	A	G	3: 153,550,052 (GRCm39)	K28R	probably damaging	Het
Bbs10	G	T	10: 111,135,244 (GRCm39)	C119F	probably damaging	Het
Camk2g	G	A	14: 20,816,280 (GRCm39)	Q119*	probably null	Het
Cdh18	A	T	15: 23,226,838 (GRCm39)	I46L	possibly damaging	Het
Cimip2a	T	C	2: 25,110,135 (GRCm39)		probably benign	Het
Clmn	T	A	12: 104,747,817 (GRCm39)	N577Y	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crocc	T	C	4: 140,774,387 (GRCm39)	E63G	probably benign	Het
Crocc	T	C	4: 140,757,087 (GRCm39)	T965A	probably benign	Het
Cryzl2	A	G	1: 157,293,294 (GRCm39)	I132V	probably benign	Het
Csgalnact2	T	C	6: 118,103,073 (GRCm39)		probably benign	Het
Ctr9	T	C	7: 110,645,479 (GRCm39)	S569P	probably damaging	Het
Cul3	A	G	1: 80,255,203 (GRCm39)		probably benign	Het
Dcp2	G	A	18: 44,543,300 (GRCm39)	S286N	probably benign	Het
Dgkz	C	T	2: 91,775,696 (GRCm39)	R189H	probably benign	Het
Dst	A	G	1: 34,221,848 (GRCm39)	T2551A	probably benign	Het
Kcna4	T	A	2: 107,126,417 (GRCm39)	S384T	probably benign	Het
Klhl17	T	C	4: 156,317,204 (GRCm39)		probably null	Het
Kmt2e	C	A	5: 23,708,032 (GRCm39)	S1865*	probably null	Het
L3mbtl1	G	A	2: 162,807,967 (GRCm39)	R534H	probably damaging	Het
Lmnb2	A	T	10: 80,742,088 (GRCm39)	M1K	probably null	Het
Lrp1b	T	C	2: 41,075,947 (GRCm39)	D1784G	probably damaging	Het
Lrrc34	A	G	3: 30,685,425 (GRCm39)		probably null	Het
Megf10	C	A	18: 57,421,048 (GRCm39)	Y895*	probably null	Het
Mesd	G	T	7: 83,544,951 (GRCm39)	A143S	probably damaging	Het
Mfap3l	G	T	8: 61,124,615 (GRCm39)	V286L	possibly damaging	Het
Mroh2a	G	A	1: 88,171,672 (GRCm39)	R770Q	probably damaging	Het
Nek1	T	A	8: 61,542,489 (GRCm39)	D717E	probably benign	Het
Nudt12	A	T	17: 59,318,064 (GRCm39)	D60E	probably benign	Het
Nup205	C	T	6: 35,173,363 (GRCm39)		probably benign	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or2j3	A	T	17: 38,616,282 (GRCm39)	H23Q	probably benign	Het
Or4a75	T	C	2: 89,448,179 (GRCm39)	D119G	probably damaging	Het
Or5w19	C	T	2: 87,698,880 (GRCm39)	P182S	possibly damaging	Het
Pacs2	T	A	12: 113,023,688 (GRCm39)		probably benign	Het
Pcdha9	T	A	18: 37,133,016 (GRCm39)	L695*	probably null	Het
Pkd1l1	A	G	11: 8,804,375 (GRCm39)	S1739P	probably damaging	Het
Polr1e	C	A	4: 45,027,392 (GRCm39)	D207E	probably damaging	Het
Polr3f	T	A	2: 144,376,327 (GRCm39)	V142E	probably damaging	Het
Psma6	T	A	12: 55,459,127 (GRCm39)	W170R	possibly damaging	Het
Rev3l	T	C	10: 39,750,191 (GRCm39)	Y3114H	probably benign	Het
Rps6ka5	C	T	12: 100,537,141 (GRCm39)	A530T	probably damaging	Het
Simc1	T	C	13: 54,674,387 (GRCm39)	Y912H	probably damaging	Het
Tnfrsf1b	T	C	4: 144,942,670 (GRCm39)	D371G	possibly damaging	Het
Trank1	T	C	9: 111,195,681 (GRCm39)	V1235A	probably damaging	Het
Ttn	T	C	2: 76,577,102 (GRCm39)	E24597G	probably damaging	Het
Ubr2	G	A	17: 47,294,242 (GRCm39)	P297L	probably damaging	Het
Unc5d	A	T	8: 29,186,560 (GRCm39)		probably null	Het
Xpo4	A	G	14: 57,850,840 (GRCm39)	F355L	probably damaging	Het

Other mutations in Pira12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00541:Pira12	APN	7	3,900,385 (GRCm39)	splice site	probably benign
IGL01358:Pira12	APN	7	3,898,686 (GRCm39)	missense	probably benign	0.41
IGL01868:Pira12	APN	7	3,900,174 (GRCm39)	nonsense	probably null
IGL02421:Pira12	APN	7	3,899,994 (GRCm39)	missense	possibly damaging	0.87
IGL02544:Pira12	APN	7	3,900,185 (GRCm39)	missense	probably damaging	0.96
IGL02960:Pira12	APN	7	3,900,078 (GRCm39)	missense	possibly damaging	0.88
IGL02973:Pira12	APN	7	3,900,239 (GRCm39)	missense	probably damaging	1.00
PIT4495001:Pira12	UTSW	7	3,900,457 (GRCm39)	missense	probably damaging	1.00
R1917:Pira12	UTSW	7	3,900,637 (GRCm39)	missense	probably damaging	1.00
R1920:Pira12	UTSW	7	3,900,871 (GRCm39)	missense	probably damaging	0.98
R2219:Pira12	UTSW	7	3,900,488 (GRCm39)	missense	probably benign	0.10
R2220:Pira12	UTSW	7	3,900,488 (GRCm39)	missense	probably benign	0.10
R4991:Pira12	UTSW	7	3,898,571 (GRCm39)	missense	probably benign	0.37
R5271:Pira12	UTSW	7	3,900,566 (GRCm39)	nonsense	probably null
R5909:Pira12	UTSW	7	3,900,621 (GRCm39)	missense	probably damaging	1.00
R6008:Pira12	UTSW	7	3,897,599 (GRCm39)	missense	probably damaging	1.00
R6193:Pira12	UTSW	7	3,901,049 (GRCm39)	critical splice donor site	probably null
R6218:Pira12	UTSW	7	3,897,031 (GRCm39)	missense	possibly damaging	0.65
R6219:Pira12	UTSW	7	3,897,640 (GRCm39)	missense	probably damaging	1.00
R6650:Pira12	UTSW	7	3,898,632 (GRCm39)	missense	probably benign	0.15
R6879:Pira12	UTSW	7	3,899,961 (GRCm39)	missense	probably benign	0.40
R6987:Pira12	UTSW	7	3,900,660 (GRCm39)	missense	probably damaging	0.99
R7082:Pira12	UTSW	7	3,898,510 (GRCm39)	missense	probably damaging	1.00
R7087:Pira12	UTSW	7	3,900,218 (GRCm39)	missense	probably benign	0.08
R7144:Pira12	UTSW	7	3,900,615 (GRCm39)	missense	probably damaging	1.00
R7298:Pira12	UTSW	7	3,898,264 (GRCm39)	missense	possibly damaging	0.92
R7359:Pira12	UTSW	7	3,901,103 (GRCm39)	start gained	probably benign
R7751:Pira12	UTSW	7	3,898,603 (GRCm39)	missense	probably damaging	1.00
R7810:Pira12	UTSW	7	3,897,204 (GRCm39)	missense	probably damaging	1.00
R8344:Pira12	UTSW	7	3,899,954 (GRCm39)	missense	possibly damaging	0.93
R8428:Pira12	UTSW	7	3,898,257 (GRCm39)	missense	probably benign	0.02
R8875:Pira12	UTSW	7	3,897,256 (GRCm39)	missense	probably damaging	0.98
R8943:Pira12	UTSW	7	3,898,365 (GRCm39)	missense	probably benign	0.11
R9045:Pira12	UTSW	7	3,897,547 (GRCm39)	missense	possibly damaging	0.92
R9125:Pira12	UTSW	7	3,900,021 (GRCm39)	missense	possibly damaging	0.62
R9129:Pira12	UTSW	7	3,898,500 (GRCm39)	critical splice donor site	probably null
R9224:Pira12	UTSW	7	3,900,234 (GRCm39)	missense	probably benign	0.13
R9427:Pira12	UTSW	7	3,897,284 (GRCm39)	critical splice acceptor site	probably null
R9777:Pira12	UTSW	7	3,897,612 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-09-30