Mutagenetix > Incidental Mutation

Incidental Mutation 'R7977:Pira2'

650964

Institutional Source

Beutler Lab

Gene Symbol

Pira2

Ensembl Gene

ENSMUSG00000089942

Gene Name

paired-Ig-like receptor A2

Synonyms

6M23

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R7977 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3836812-3845051 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3841697 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 445 (F445Y)

Ref Sequence

ENSEMBL: ENSMUSP00000104255 (fasta)

Gene Model

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

AlphaFold

F8VQ94

Predicted Effect

probably benign
Transcript: ENSMUST00000108615
AA Change: F445Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104255
Gene: ENSMUSG00000089942
AA Change: F445Y

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 benign
Transcript: ENSMUST00000119469
AA Change: F445Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113857
Gene: ENSMUSG00000089942
AA Change: F445Y

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	G	T	2: 32,574,305	Q161K	unknown	Het
Acsl5	T	C	19: 55,277,973		probably null	Het
Adgre1	T	A	17: 57,447,987	I695N	possibly damaging	Het
Ank2	T	C	3: 126,945,707	D2176G	unknown	Het
Atp6v0a2	G	A	5: 124,719,986	G810D	probably damaging	Het
Bod1l	A	C	5: 41,795,070	N2868K	probably damaging	Het
Brd7	T	C	8: 88,334,141	T526A	probably benign	Het
C9	T	A	15: 6,467,462	Y213*	probably null	Het
Card6	T	A	15: 5,100,525	N463I	probably damaging	Het
Ccdc81	T	C	7: 89,876,111	Y485C	probably damaging	Het
Celsr1	A	G	15: 86,032,993	F260L	probably damaging	Het
Dnah8	A	G	17: 30,744,524	D2304G	probably damaging	Het
Dnase1	A	G	16: 4,037,970	D55G	probably damaging	Het
Ecsit	C	A	9: 22,073,484	R296L	probably damaging	Het
Entpd8	A	G	2: 25,084,766	D403G	probably damaging	Het
Epha2	C	A	4: 141,308,480	Q76K	probably damaging	Het
Exoc1	T	A	5: 76,543,585	V252E	probably damaging	Het
Fmnl3	T	A	15: 99,328,098	H225L	possibly damaging	Het
Gm4565	A	C	7: 22,583,387	M2R	probably benign	Het
Gpr146	G	T	5: 139,392,685	A81S	possibly damaging	Het
Heg1	C	A	16: 33,720,730	S419*	probably null	Het
Hps5	A	C	7: 46,769,051	I865S	probably benign	Het
Hsp90ab1	A	C	17: 45,571,606	I54S	probably damaging	Het
Hyal4	T	G	6: 24,763,866	M342R	probably damaging	Het
Itgal	A	G	7: 127,328,298	T987A	possibly damaging	Het
Kat6b	A	G	14: 21,669,863	T1428A	probably benign	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Ldlrad4	G	T	18: 68,235,669	A66S	possibly damaging	Het
Lmtk2	A	G	5: 144,175,141	D893G	probably benign	Het
Myo3b	A	G	2: 70,330,933	T1174A	probably benign	Het
Naf1	CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	8: 66,860,494		probably benign	Het
Nsun5	G	A	5: 135,375,680	R424H	probably damaging	Het
Oacyl	A	G	18: 65,698,391	E33G	probably benign	Het
Olfr77	T	C	9: 19,920,314	F35S	possibly damaging	Het
Olfr798	T	C	10: 129,625,969	I31V	probably benign	Het
Palm	C	T	10: 79,793,705		probably benign	Het
Papln	A	G	12: 83,775,382	E337G	probably damaging	Het
Setd1b	A	G	5: 123,147,680	D263G	unknown	Het
Slc10a7	T	A	8: 78,697,214	F202I	probably benign	Het
Smpd3	T	C	8: 106,259,894	I455V	probably benign	Het
Snip1	G	T	4: 125,066,939	G63W	probably damaging	Het
Sorl1	T	A	9: 41,977,561	Y1981F	probably damaging	Het
Tagln2	A	G	1: 172,505,253	T36A	probably benign	Het
Tnxb	T	C	17: 34,710,220	S2746P	possibly damaging	Het
Tob2	G	A	15: 81,851,480	P96L	probably damaging	Het
Triobp	T	A	15: 79,001,544	Y1816N	probably damaging	Het
Trpc3	A	G	3: 36,644,169	I647T	probably benign	Het
Ttn	A	G	2: 76,891,561	S6600P	unknown	Het
Vmn1r200	A	T	13: 22,395,855	Y276F	possibly damaging	Het
Vmn1r230	T	C	17: 20,846,897	I116T	probably benign	Het
Vmn1r26	A	T	6: 58,008,279	Y308*	probably null	Het
Vmn2r16	C	T	5: 109,340,149	T296I	probably damaging	Het
Wdfy2	A	G	14: 62,951,931	D283G	possibly damaging	Het

Other mutations in Pira2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01349:Pira2	APN	7	3844139	missense	probably damaging	1.00
IGL01810:Pira2	APN	7	3844612	missense	probably damaging	1.00
IGL03167:Pira2	APN	7	3840920	missense	probably damaging	0.98
IGL03171:Pira2	APN	7	3842605	missense	probably damaging	1.00
BB009:Pira2	UTSW	7	3842436	critical splice donor site	probably null
BB019:Pira2	UTSW	7	3842436	critical splice donor site	probably null
PIT4260001:Pira2	UTSW	7	3842170	missense	probably benign
PIT4260001:Pira2	UTSW	7	3842173	missense	probably benign
PIT4260001:Pira2	UTSW	7	3842174	missense	probably benign
R0517:Pira2	UTSW	7	3844197	splice site	probably benign
R1565:Pira2	UTSW	7	3844549	missense	probably damaging	1.00
R1870:Pira2	UTSW	7	3844453	missense	probably damaging	1.00
R2143:Pira2	UTSW	7	3844345	missense	probably damaging	1.00
R2144:Pira2	UTSW	7	3844345	missense	probably damaging	1.00
R2145:Pira2	UTSW	7	3844345	missense	probably damaging	1.00
R2149:Pira2	UTSW	7	3844171	missense	probably damaging	1.00
R2171:Pira2	UTSW	7	3844418	missense	probably benign	0.08
R3118:Pira2	UTSW	7	3841677	nonsense	probably null
R4658:Pira2	UTSW	7	3840934	missense	probably damaging	1.00
R5148:Pira2	UTSW	7	3844593	missense	possibly damaging	0.62
R5228:Pira2	UTSW	7	3844374	missense	probably benign	0.33
R5583:Pira2	UTSW	7	3842546	missense	probably benign	0.34
R5974:Pira2	UTSW	7	3841577	missense	probably benign	0.27
R6120:Pira2	UTSW	7	3841554	missense	probably damaging	1.00
R6122:Pira2	UTSW	7	3842446	missense	probably damaging	1.00
R6392:Pira2	UTSW	7	3843902	missense	possibly damaging	0.72
R6658:Pira2	UTSW	7	3842301	missense	probably benign	0.00
R6790:Pira2	UTSW	7	3842443	missense	probably damaging	1.00
R6990:Pira2	UTSW	7	3841068	missense	probably damaging	0.99
R7336:Pira2	UTSW	7	3844345	missense	probably damaging	1.00
R7597:Pira2	UTSW	7	3842461	missense	probably damaging	1.00
R7768:Pira2	UTSW	7	3841697	missense	probably benign
R7777:Pira2	UTSW	7	3841697	missense	probably benign
R7861:Pira2	UTSW	7	3844544	missense	probably damaging	1.00
R7932:Pira2	UTSW	7	3842436	critical splice donor site	probably null
R7984:Pira2	UTSW	7	3841697	missense	probably benign
R7985:Pira2	UTSW	7	3841697	missense	probably benign
R7987:Pira2	UTSW	7	3841697	missense	probably benign
R8017:Pira2	UTSW	7	3841697	missense	probably benign
R8017:Pira2	UTSW	7	3841697	missense	probably benign
R8019:Pira2	UTSW	7	3841697	missense	probably benign
R8389:Pira2	UTSW	7	3843889	missense	probably damaging	1.00
R8972:Pira2	UTSW	7	3842071	missense	probably damaging	1.00
R8998:Pira2	UTSW	7	3842491	missense	probably damaging	1.00
R9350:Pira2	UTSW	7	3841031	missense	probably benign	0.04
R9766:Pira2	UTSW	7	3842518	missense	possibly damaging	0.80

Predicted Primers

Posted On

2020-09-15