Mutagenetix > Incidental Mutation

Incidental Mutation 'R8428:Pira12'

653597

Institutional Source

Beutler Lab

Gene Symbol

Pira12

Ensembl Gene

ENSMUSG00000074417

Gene Name

paired-Ig-like receptor A12

Synonyms

Gm14548

MMRRC Submission

067822-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R8428 (G1)

Quality Score

144.008

Status

Not validated

Chromosome

Chromosomal Location

3887241-3901119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3898257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 355 (T355I)

Ref Sequence

ENSEMBL: ENSMUSP00000070073 (fasta)

Gene Model

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

AlphaFold

E9Q1Z6

Predicted Effect

probably benign
Transcript: ENSMUST00000070639
AA Change: T355I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000070073
Gene: ENSMUSG00000074417
AA Change: T355I

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	A	G	10: 126,923,175 (GRCm39)	I670V	unknown	Het
Bcan	G	T	3: 87,904,405 (GRCm39)	T117K	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Cbx8	C	A	11: 118,929,754 (GRCm39)	V280F	probably damaging	Het
Ccdc117	A	T	11: 5,484,350 (GRCm39)	S163R	possibly damaging	Het
Ccdc17	A	T	4: 116,456,823 (GRCm39)	I509F	probably damaging	Het
Cdon	T	C	9: 35,403,163 (GRCm39)	V1091A	probably benign	Het
Cntnap5b	C	T	1: 100,311,310 (GRCm39)	T972I	probably damaging	Het
Dlg2	T	C	7: 90,740,240 (GRCm39)	L9P	possibly damaging	Het
Dnah6	T	A	6: 73,051,634 (GRCm39)	R3053S	probably benign	Het
Dnah7a	T	A	1: 53,512,112 (GRCm39)	N2983I	probably damaging	Het
Dnah7c	T	C	1: 46,711,536 (GRCm39)	Y2588H	probably damaging	Het
Dpysl5	A	G	5: 30,902,811 (GRCm39)	D81G	probably damaging	Het
Dscaml1	A	G	9: 45,653,884 (GRCm39)	D1387G	probably benign	Het
Exd1	G	T	2: 119,369,348 (GRCm39)	T89K	possibly damaging	Het
Ezh2	T	A	6: 47,522,745 (GRCm39)	R364*	probably null	Het
Fam161b	C	T	12: 84,404,369 (GRCm39)	D104N	probably benign	Het
Fbxw8	C	A	5: 118,215,763 (GRCm39)	V416L	probably benign	Het
Flnc	A	T	6: 29,450,849 (GRCm39)	D1499V	probably benign	Het
Fmc1	A	T	6: 38,516,115 (GRCm39)	R54*	probably null	Het
Fzr1	A	G	10: 81,206,942 (GRCm39)	F61S	probably damaging	Het
Get4	T	G	5: 139,251,393 (GRCm39)	C160G	probably benign	Het
Gm32742	G	A	9: 51,055,675 (GRCm39)	R1330*	probably null	Het
Gnat3	G	A	5: 18,220,312 (GRCm39)	A225T	possibly damaging	Het
Gucy2c	A	G	6: 136,704,892 (GRCm39)	Y541H	probably damaging	Het
Hand2	A	G	8: 57,775,461 (GRCm39)	T174A	probably benign	Het
Helb	T	C	10: 119,927,522 (GRCm39)	T863A	probably damaging	Het
Hoxa7	A	T	6: 52,194,993 (GRCm39)	V2D	unknown	Het
Ifi44	G	A	3: 151,444,978 (GRCm39)	R325*	probably null	Het
Igfn1	C	T	1: 135,895,520 (GRCm39)	G1682E	probably damaging	Het
Itch	A	G	2: 155,010,627 (GRCm39)	N32D	probably benign	Het
Kif26b	T	C	1: 178,744,923 (GRCm39)	V1673A	probably benign	Het
Map1a	A	T	2: 121,135,418 (GRCm39)	D2078V	probably benign	Het
Mgat4b	G	T	11: 50,121,512 (GRCm39)	V35L	probably benign	Het
Micu3	G	A	8: 40,761,205 (GRCm39)	M38I	probably benign	Het
Myo15a	A	T	11: 60,387,241 (GRCm39)	H706L	probably damaging	Het
Ndc1	A	G	4: 107,226,017 (GRCm39)	T42A	probably benign	Het
Nfat5	T	A	8: 108,095,152 (GRCm39)	M1131K	probably damaging	Het
Nop14	G	A	5: 34,798,784 (GRCm39)	S648L	probably damaging	Het
Or51k1	G	T	7: 103,661,632 (GRCm39)	Y92*	probably null	Het
Otogl	A	G	10: 107,634,597 (GRCm39)	V1413A	probably damaging	Het
Palb2	T	A	7: 121,711,224 (GRCm39)	M967L	possibly damaging	Het
Ppa2	A	G	3: 133,053,904 (GRCm39)	K198R	probably damaging	Het
Prokr1	T	C	6: 87,565,756 (GRCm39)	T30A	probably benign	Het
Prss50	C	T	9: 110,687,128 (GRCm39)	R24C	unknown	Het
Rbm17	T	C	2: 11,605,441 (GRCm39)	T38A	possibly damaging	Het
Rps6ka5	G	A	12: 100,541,500 (GRCm39)	Q420*	probably null	Het
Senp6	G	T	9: 80,025,794 (GRCm39)	R448L	probably damaging	Het
Senp7	T	C	16: 55,999,391 (GRCm39)	I838T	probably damaging	Het
Sf3b2	C	T	19: 5,337,242 (GRCm39)	S329N	possibly damaging	Het
Slc13a4	A	T	6: 35,245,814 (GRCm39)	D610E	probably benign	Het
Slc24a2	A	G	4: 87,145,337 (GRCm39)	L239P	probably damaging	Het
Slc39a5	T	A	10: 128,232,884 (GRCm39)	H389L	probably damaging	Het
Syt4	A	G	18: 31,577,072 (GRCm39)	L94P	probably damaging	Het
Tgm5	A	G	2: 120,879,356 (GRCm39)	V560A	probably benign	Het
Thoc5	A	G	11: 4,876,115 (GRCm39)	T623A	probably damaging	Het
Tm7sf2	C	T	19: 6,113,074 (GRCm39)	V376I	probably benign	Het
Tmem268	T	A	4: 63,496,141 (GRCm39)	V194E	probably damaging	Het
Tpr	C	A	1: 150,290,564 (GRCm39)	R798S	probably damaging	Het
Trpv5	G	T	6: 41,630,182 (GRCm39)	T685K	possibly damaging	Het
Ttn	A	T	2: 76,584,774 (GRCm39)	N22141K	probably damaging	Het
Txnrd2	T	C	16: 18,275,048 (GRCm39)	I353T	unknown	Het
Upk1a	A	G	7: 30,303,043 (GRCm39)	Y252H	probably damaging	Het
Vmn2r118	A	G	17: 55,915,642 (GRCm39)	I436T	probably benign	Het
Vmn2r76	T	A	7: 85,874,479 (GRCm39)	I833F	possibly damaging	Het
Zfp277	T	C	12: 40,379,577 (GRCm39)	H319R	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
R0761:Pira12	UTSW	7	3,896,978 (GRCm39)	critical splice donor site	probably null
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
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

PCR Primer
(F):5'- TGGGGACTTACCTGAGATGAG -3'
(R):5'- AGTCTTCCCTTCCCACAAAG -3'

Sequencing Primer
(F):5'- GTATTTGTTGAAGAGCACTAGGTAC -3'
(R):5'- TTCCCTTCCCACAAAGTATTGCAAG -3'

Posted On

2020-10-20