Mutagenetix > Incidental Mutation

Incidental Mutation 'R1565:Pira2'

175195

Institutional Source

Beutler Lab

Gene Symbol

Pira2

Ensembl Gene

ENSMUSG00000089942

Gene Name

paired-Ig-like receptor A2

Synonyms

6M23

MMRRC Submission

039604-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R1565 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3836812-3845051 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3844549 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 47 (F47Y)

Ref Sequence

ENSEMBL: ENSMUSP00000113857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108615] [ENSMUST00000119469]

AlphaFold

F8VQ94

Predicted Effect

probably damaging
Transcript: ENSMUST00000108615
AA Change: F47Y

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

SMART Domains

Protein: ENSMUSP00000104255
Gene: ENSMUSG00000089942
AA Change: F47Y

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
IG	34	118	2.39e-1	SMART
IG_like	129	220	1.94e1	SMART
IG	231	315	7.77e-1	SMART
IG	328	415	3.36e0	SMART
IG_like	435	502	3.18e0	SMART
IG	529	618	8.59e-3	SMART
low complexity region	654	663	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119469
AA Change: F47Y

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

SMART Domains

Protein: ENSMUSP00000113857
Gene: ENSMUSG00000089942
AA Change: F47Y

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
IG	34	118	2.39e-1	SMART
IG_like	129	220	1.94e1	SMART
IG	231	315	7.77e-1	SMART
IG	328	415	3.36e0	SMART
IG_like	435	502	3.18e0	SMART
IG	529	618	8.59e-3	SMART
low complexity region	637	646	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.0%

Validation Efficiency

96% (82/85)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,880,501	G270S	probably benign	Het
Abtb1	T	C	6: 88,836,554	T401A	probably benign	Het
Adamts14	A	T	10: 61,270,897	M148K	probably damaging	Het
Adcy5	A	G	16: 35,268,957	E508G	probably damaging	Het
Ankfy1	T	A	11: 72,757,318	L875H	probably damaging	Het
Cacng3	A	T	7: 122,768,401	D168V	probably damaging	Het
Clpb	G	A	7: 101,785,461	R488Q	probably benign	Het
Cpxm2	A	T	7: 132,062,145	Y350N	probably damaging	Het
D130040H23Rik	T	A	8: 69,303,160	*406R	probably null	Het
Dnah10	T	A	5: 124,829,614	D4236E	probably damaging	Het
Dpf3	T	A	12: 83,370,617	Y27F	probably damaging	Het
Esp4	T	C	17: 40,602,595	*118Q	probably null	Het
Fam222b	T	C	11: 78,154,662	S222P	possibly damaging	Het
Flnc	T	C	6: 29,455,171	V1933A	probably damaging	Het
Gem	T	C	4: 11,713,709	F282L	possibly damaging	Het
Gli2	T	C	1: 118,841,930	T631A	possibly damaging	Het
Gm13088	G	A	4: 143,655,617	Q170*	probably null	Het
Gpld1	T	A	13: 24,956,068	V116E	probably damaging	Het
Gpr176	A	G	2: 118,280,214	M188T	probably benign	Het
Grk5	T	C	19: 61,089,972	V489A	probably damaging	Het
H2-Ke6	C	T	17: 34,027,495	V105I	possibly damaging	Het
Hpdl	T	C	4: 116,820,883	N127S	probably damaging	Het
Id4	G	T	13: 48,262,294	V151L	possibly damaging	Het
Kcnh8	G	T	17: 52,956,881	G802V	probably benign	Het
Lamc1	C	A	1: 153,242,743	S894I	probably benign	Het
Larp1b	A	G	3: 40,972,384	N184S	probably damaging	Het
Lhx1	A	T	11: 84,519,821	S226T	probably benign	Het
Lmo7	A	T	14: 101,887,521	Q472L	probably damaging	Het
Mog	G	C	17: 37,017,582	N152K	possibly damaging	Het
Mttp	A	G	3: 138,116,405		probably null	Het
Mycbp2	A	G	14: 103,252,509	V953A	possibly damaging	Het
Myo3a	A	T	2: 22,340,280	Y509F	probably damaging	Het
Myo9b	A	G	8: 71,315,192	N303S	possibly damaging	Het
Nek3	T	C	8: 22,132,201		probably null	Het
Nlrc4	A	T	17: 74,441,931	D771E	probably benign	Het
Nup160	A	T	2: 90,722,061	N1127I	possibly damaging	Het
Oas1h	A	T	5: 120,862,600	N91I	probably damaging	Het
Olfr1225	A	T	2: 89,170,627	V195D	probably benign	Het
Olfr1226	G	T	2: 89,193,883	S50R	probably damaging	Het
Olfr1342	T	A	4: 118,690,192	N87Y	probably damaging	Het
Parp4	T	C	14: 56,589,872		probably benign	Het
Pi4ka	G	A	16: 17,281,900	C96Y	probably null	Het
Pkhd1	C	A	1: 20,347,457	G2490V	probably damaging	Het
Plekhg1	C	T	10: 3,940,526	T394I	probably damaging	Het
Psmd1	T	C	1: 86,091,997		probably benign	Het
Rab3ip	A	T	10: 116,939,223	C77S	probably benign	Het
Reln	A	T	5: 21,925,213	M2700K	probably benign	Het
Rfx1	A	G	8: 84,073,946	T59A	probably benign	Het
Ric8b	G	T	10: 84,980,099	V405L	probably benign	Het
Rufy3	G	T	5: 88,640,632	A479S	probably damaging	Het
Sardh	A	T	2: 27,242,719	Y166N	probably damaging	Het
Slamf6	T	G	1: 171,934,408	V132G	possibly damaging	Het
Slc12a3	T	G	8: 94,345,877	H674Q	possibly damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Srsf9	A	G	5: 115,327,370	N21S	possibly damaging	Het
Stkld1	A	T	2: 26,950,090	T391S	probably benign	Het
Sumf2	C	A	5: 129,859,914	N230K	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,569	V22A	possibly damaging	Het
Thsd7b	T	A	1: 129,596,041	S194T	possibly damaging	Het
Tmem27	A	G	X: 164,118,234	D184G	possibly damaging	Het
Tnn	T	A	1: 160,097,265	Y1173F	probably damaging	Het
Top2a	A	G	11: 99,001,054	F1122L	probably damaging	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Trim39	G	A	17: 36,268,854	R70W	probably damaging	Het
Ttn	G	A	2: 76,794,261	T15289I	probably damaging	Het
Ugt2b38	A	T	5: 87,411,914	V373E	probably damaging	Het
Usp54	A	G	14: 20,607,159	S24P	probably damaging	Het
Vmn2r27	C	T	6: 124,231,634	G51S	probably benign	Het
Xylt2	C	T	11: 94,667,594	A579T	probably benign	Het
Zbtb21	A	G	16: 97,952,427	S247P	probably benign	Het
Zc3h7b	C	T	15: 81,777,088	P376L	probably benign	Het
Zfp251	C	T	15: 76,853,039	R613K	possibly damaging	Het
Zfp251	T	A	15: 76,853,038	R613S	probably damaging	Het
Zfp91	T	C	19: 12,779,075	D135G	probably benign	Het

Other mutations in Pira2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01349:Pira2	APN	7	3,844,139 (GRCm38)	missense	probably damaging	1.00
IGL01810:Pira2	APN	7	3,844,612 (GRCm38)	missense	probably damaging	1.00
IGL03167:Pira2	APN	7	3,840,920 (GRCm38)	missense	probably damaging	0.98
IGL03171:Pira2	APN	7	3,842,605 (GRCm38)	missense	probably damaging	1.00
BB009:Pira2	UTSW	7	3,842,436 (GRCm38)	critical splice donor site	probably null
BB019:Pira2	UTSW	7	3,842,436 (GRCm38)	critical splice donor site	probably null
PIT4260001:Pira2	UTSW	7	3,842,174 (GRCm38)	missense	probably benign
PIT4260001:Pira2	UTSW	7	3,842,170 (GRCm38)	missense	probably benign
PIT4260001:Pira2	UTSW	7	3,842,173 (GRCm38)	missense	probably benign
R0517:Pira2	UTSW	7	3,844,197 (GRCm38)	splice site	probably benign
R1870:Pira2	UTSW	7	3,844,453 (GRCm38)	missense	probably damaging	1.00
R2143:Pira2	UTSW	7	3,844,345 (GRCm38)	missense	probably damaging	1.00
R2144:Pira2	UTSW	7	3,844,345 (GRCm38)	missense	probably damaging	1.00
R2145:Pira2	UTSW	7	3,844,345 (GRCm38)	missense	probably damaging	1.00
R2149:Pira2	UTSW	7	3,844,171 (GRCm38)	missense	probably damaging	1.00
R2171:Pira2	UTSW	7	3,844,418 (GRCm38)	missense	probably benign	0.08
R3118:Pira2	UTSW	7	3,841,677 (GRCm38)	nonsense	probably null
R4658:Pira2	UTSW	7	3,840,934 (GRCm38)	missense	probably damaging	1.00
R5148:Pira2	UTSW	7	3,844,593 (GRCm38)	missense	possibly damaging	0.62
R5228:Pira2	UTSW	7	3,844,374 (GRCm38)	missense	probably benign	0.33
R5583:Pira2	UTSW	7	3,842,546 (GRCm38)	missense	probably benign	0.34
R5974:Pira2	UTSW	7	3,841,577 (GRCm38)	missense	probably benign	0.27
R6120:Pira2	UTSW	7	3,841,554 (GRCm38)	missense	probably damaging	1.00
R6122:Pira2	UTSW	7	3,842,446 (GRCm38)	missense	probably damaging	1.00
R6392:Pira2	UTSW	7	3,843,902 (GRCm38)	missense	possibly damaging	0.72
R6658:Pira2	UTSW	7	3,842,301 (GRCm38)	missense	probably benign	0.00
R6790:Pira2	UTSW	7	3,842,443 (GRCm38)	missense	probably damaging	1.00
R6990:Pira2	UTSW	7	3,841,068 (GRCm38)	missense	probably damaging	0.99
R7336:Pira2	UTSW	7	3,844,345 (GRCm38)	missense	probably damaging	1.00
R7597:Pira2	UTSW	7	3,842,461 (GRCm38)	missense	probably damaging	1.00
R7768:Pira2	UTSW	7	3,841,697 (GRCm38)	missense	probably benign
R7777:Pira2	UTSW	7	3,841,697 (GRCm38)	missense	probably benign
R7861:Pira2	UTSW	7	3,844,544 (GRCm38)	missense	probably damaging	1.00
R7932:Pira2	UTSW	7	3,842,436 (GRCm38)	critical splice donor site	probably null
R7977:Pira2	UTSW	7	3,841,697 (GRCm38)	missense	probably benign
R7984:Pira2	UTSW	7	3,841,697 (GRCm38)	missense	probably benign
R7985:Pira2	UTSW	7	3,841,697 (GRCm38)	missense	probably benign
R7987:Pira2	UTSW	7	3,841,697 (GRCm38)	missense	probably benign
R8017:Pira2	UTSW	7	3,841,697 (GRCm38)	missense	probably benign
R8017:Pira2	UTSW	7	3,841,697 (GRCm38)	missense	probably benign
R8019:Pira2	UTSW	7	3,841,697 (GRCm38)	missense	probably benign
R8389:Pira2	UTSW	7	3,843,889 (GRCm38)	missense	probably damaging	1.00
R8972:Pira2	UTSW	7	3,842,071 (GRCm38)	missense	probably damaging	1.00
R8998:Pira2	UTSW	7	3,842,491 (GRCm38)	missense	probably damaging	1.00
R9350:Pira2	UTSW	7	3,841,031 (GRCm38)	missense	probably benign	0.04
R9766:Pira2	UTSW	7	3,842,518 (GRCm38)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- GGAGTCAGTTAAATGTCCGCAGGC -3'
(R):5'- CCTGGGCTGTAATGGTGGAAAACAC -3'

Sequencing Primer
(F):5'- TCTGAGGTTCCCACAGTGAG -3'
(R):5'- AACACCACCTGTGTGTGAGTC -3'

Posted On

2014-04-24