Mutagenetix > Incidental Mutation

Incidental Mutation 'BB019:Pira2'

643059

Institutional Source

Beutler Lab

Gene Symbol

Pira2

Ensembl Gene

ENSMUSG00000089942

Gene Name

paired-Ig-like receptor A2

Synonyms

6M23

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

BB019

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3839811-3848050 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 3845435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104255 (fasta)

Gene Model

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

AlphaFold

F8VQ94

Predicted Effect

probably null
Transcript: ENSMUST00000108615

SMART Domains

Protein: ENSMUSP00000104255
Gene: ENSMUSG00000089942

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 null
Transcript: ENSMUST00000108615

SMART Domains

Protein: ENSMUSP00000104255
Gene: ENSMUSG00000089942

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

SMART Domains

Protein: ENSMUSP00000113857
Gene: ENSMUSG00000089942

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: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,415,100 (GRCm39)	R666G	unknown	Het
Adam21	T	A	12: 81,606,938 (GRCm39)	N275Y	probably damaging	Het
Arhgap24	A	T	5: 102,993,835 (GRCm39)		probably benign	Het
Arhgef1	C	T	7: 24,619,135 (GRCm39)	L459F	probably damaging	Het
Bbx	A	T	16: 50,030,806 (GRCm39)		probably null	Het
Blk	C	T	14: 63,611,008 (GRCm39)	G445S	possibly damaging	Het
Brca1	T	C	11: 101,430,843 (GRCm39)	E33G	possibly damaging	Het
Cacna1s	T	G	1: 136,012,097 (GRCm39)	L513R	probably damaging	Het
Cnn3	T	A	3: 121,245,078 (GRCm39)	M98K	probably benign	Het
Cttnbp2	T	A	6: 18,427,532 (GRCm39)	L716F	probably damaging	Het
Dlgap1	A	T	17: 70,823,233 (GRCm39)	R73W	probably damaging	Het
Dnajc4	A	G	19: 6,965,638 (GRCm39)	L182P	probably damaging	Het
Dock2	T	C	11: 34,217,998 (GRCm39)	M1191V	probably benign	Het
Fam13a	C	T	6: 58,960,873 (GRCm39)		probably null	Het
Fbn2	C	T	18: 58,153,555 (GRCm39)	G2569E	possibly damaging	Het
Fes	T	C	7: 80,029,620 (GRCm39)	I623V	probably damaging	Het
Fyco1	A	C	9: 123,658,055 (GRCm39)	L707R	possibly damaging	Het
Gadd45b	T	A	10: 80,766,169 (GRCm39)	V7E	possibly damaging	Het
Gm19410	T	A	8: 36,262,753 (GRCm39)	C897S	probably damaging	Het
Hk1	A	G	10: 62,151,299 (GRCm39)	L31P	probably damaging	Het
Hoxa4	T	G	6: 52,167,397 (GRCm39)	K261N	probably damaging	Het
Hrh4	T	A	18: 13,148,869 (GRCm39)	L77*	probably null	Het
Igf1r	A	T	7: 67,861,802 (GRCm39)	I1121F	possibly damaging	Het
Igkv16-104	A	T	6: 68,402,778 (GRCm39)	I24L	probably benign	Het
Itk	A	T	11: 46,231,519 (GRCm39)	W346R	probably benign	Het
Kdm2a	A	G	19: 4,369,184 (GRCm39)	S1144P	probably damaging	Het
Krt86	A	T	15: 101,374,473 (GRCm39)	S289C	probably damaging	Het
Lonrf1	T	C	8: 36,690,070 (GRCm39)	I663V	probably benign	Het
Lrp2	T	G	2: 69,256,371 (GRCm39)	I4590L	probably benign	Het
Lrrc8d	C	T	5: 105,960,891 (GRCm39)	R434C	probably damaging	Het
Maneal	T	C	4: 124,755,638 (GRCm39)	Y108C	probably damaging	Het
Myh8	G	A	11: 67,185,430 (GRCm39)	V894I	probably benign	Het
Ncam2	T	G	16: 81,412,708 (GRCm39)	L732R	probably damaging	Het
Nsun4	A	T	4: 115,901,997 (GRCm39)	D156E	probably damaging	Het
Or10z1	T	C	1: 174,078,260 (GRCm39)	I78V	probably benign	Het
Or1e23	A	C	11: 73,407,983 (GRCm39)	L14R	probably damaging	Het
Or2n1d	A	T	17: 38,646,146 (GRCm39)	I33L	probably benign	Het
Or5b106	A	T	19: 13,123,345 (GRCm39)	M226K	probably benign	Het
Or5v1b	T	C	17: 37,841,075 (GRCm39)	I69T	probably benign	Het
Or6c66	C	A	10: 129,461,094 (GRCm39)	V279F	probably damaging	Het
P2rx7	G	A	5: 122,782,245 (GRCm39)	V37I	probably benign	Het
Pcdh15	A	G	10: 74,481,359 (GRCm39)	R235G	probably benign	Het
Pcdhga1	T	C	18: 37,796,513 (GRCm39)	S506P	probably damaging	Het
Plch1	A	G	3: 63,609,402 (GRCm39)	V935A	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Prpf8	A	G	11: 75,383,423 (GRCm39)	D607G	possibly damaging	Het
Ptdss1	T	C	13: 67,114,496 (GRCm39)	W215R	probably damaging	Het
Ptpn9	C	A	9: 56,943,900 (GRCm39)	P258Q	possibly damaging	Het
Rfpl4b	A	G	10: 38,697,346 (GRCm39)	V85A	possibly damaging	Het
Sacs	C	A	14: 61,442,327 (GRCm39)	Q1458K	probably damaging	Het
Scfd2	A	T	5: 74,692,211 (GRCm39)	S24T	probably benign	Het
Siae	A	G	9: 37,544,980 (GRCm39)	D325G	probably benign	Het
Slc22a23	C	A	13: 34,366,960 (GRCm39)	A683S	probably damaging	Het
Slc44a3	A	T	3: 121,306,009 (GRCm39)	I244N	possibly damaging	Het
Srrm2	T	A	17: 24,037,501 (GRCm39)	S1382T	probably benign	Het
Tfap2c	A	G	2: 172,393,706 (GRCm39)	Y207C	probably damaging	Het
Timd5	C	A	11: 46,426,366 (GRCm39)	P158T	probably benign	Het
Tnc	T	C	4: 63,926,857 (GRCm39)	I890V	probably benign	Het
Trim30a	A	T	7: 104,078,545 (GRCm39)	I177N	probably benign	Het
Tshz2	T	A	2: 169,728,251 (GRCm39)	M949K	possibly damaging	Het
Ttn	T	G	2: 76,555,530 (GRCm39)	T30492P	probably damaging	Het
Ubb	C	T	11: 62,443,611 (GRCm39)	Q214*	probably null	Het
Ulk2	A	G	11: 61,698,916 (GRCm39)	S423P	probably benign	Het
Vmn1r237	C	A	17: 21,534,725 (GRCm39)	D149E	probably benign	Het
Zbtb24	A	G	10: 41,327,504 (GRCm39)	D130G	probably benign	Het
Zfp689	C	A	7: 127,043,523 (GRCm39)	G369V	probably damaging	Het
Zg16	A	G	7: 126,649,577 (GRCm39)	F128S	probably damaging	Het
Zmym1	T	G	4: 126,944,578 (GRCm39)	N203T	possibly damaging	Het

Other mutations in Pira2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01349:Pira2	APN	7	3,847,138 (GRCm39)	missense	probably damaging	1.00
IGL01810:Pira2	APN	7	3,847,611 (GRCm39)	missense	probably damaging	1.00
IGL03167:Pira2	APN	7	3,843,919 (GRCm39)	missense	probably damaging	0.98
IGL03171:Pira2	APN	7	3,845,604 (GRCm39)	missense	probably damaging	1.00
BB009:Pira2	UTSW	7	3,845,435 (GRCm39)	critical splice donor site	probably null
PIT4260001:Pira2	UTSW	7	3,845,173 (GRCm39)	missense	probably benign
PIT4260001:Pira2	UTSW	7	3,845,169 (GRCm39)	missense	probably benign
PIT4260001:Pira2	UTSW	7	3,845,172 (GRCm39)	missense	probably benign
R0517:Pira2	UTSW	7	3,847,196 (GRCm39)	splice site	probably benign
R1565:Pira2	UTSW	7	3,847,548 (GRCm39)	missense	probably damaging	1.00
R1870:Pira2	UTSW	7	3,847,452 (GRCm39)	missense	probably damaging	1.00
R2143:Pira2	UTSW	7	3,847,344 (GRCm39)	missense	probably damaging	1.00
R2144:Pira2	UTSW	7	3,847,344 (GRCm39)	missense	probably damaging	1.00
R2145:Pira2	UTSW	7	3,847,344 (GRCm39)	missense	probably damaging	1.00
R2149:Pira2	UTSW	7	3,847,170 (GRCm39)	missense	probably damaging	1.00
R2171:Pira2	UTSW	7	3,847,417 (GRCm39)	missense	probably benign	0.08
R3118:Pira2	UTSW	7	3,844,676 (GRCm39)	nonsense	probably null
R4658:Pira2	UTSW	7	3,843,933 (GRCm39)	missense	probably damaging	1.00
R5148:Pira2	UTSW	7	3,847,592 (GRCm39)	missense	possibly damaging	0.62
R5228:Pira2	UTSW	7	3,847,373 (GRCm39)	missense	probably benign	0.33
R5583:Pira2	UTSW	7	3,845,545 (GRCm39)	missense	probably benign	0.34
R5974:Pira2	UTSW	7	3,844,576 (GRCm39)	missense	probably benign	0.27
R6120:Pira2	UTSW	7	3,844,553 (GRCm39)	missense	probably damaging	1.00
R6122:Pira2	UTSW	7	3,845,445 (GRCm39)	missense	probably damaging	1.00
R6392:Pira2	UTSW	7	3,846,901 (GRCm39)	missense	possibly damaging	0.72
R6658:Pira2	UTSW	7	3,845,300 (GRCm39)	missense	probably benign	0.00
R6790:Pira2	UTSW	7	3,845,442 (GRCm39)	missense	probably damaging	1.00
R6990:Pira2	UTSW	7	3,844,067 (GRCm39)	missense	probably damaging	0.99
R7336:Pira2	UTSW	7	3,847,344 (GRCm39)	missense	probably damaging	1.00
R7597:Pira2	UTSW	7	3,845,460 (GRCm39)	missense	probably damaging	1.00
R7768:Pira2	UTSW	7	3,844,696 (GRCm39)	missense	probably benign
R7777:Pira2	UTSW	7	3,844,696 (GRCm39)	missense	probably benign
R7861:Pira2	UTSW	7	3,847,543 (GRCm39)	missense	probably damaging	1.00
R7932:Pira2	UTSW	7	3,845,435 (GRCm39)	critical splice donor site	probably null
R7977:Pira2	UTSW	7	3,844,696 (GRCm39)	missense	probably benign
R7984:Pira2	UTSW	7	3,844,696 (GRCm39)	missense	probably benign
R7985:Pira2	UTSW	7	3,844,696 (GRCm39)	missense	probably benign
R7987:Pira2	UTSW	7	3,844,696 (GRCm39)	missense	probably benign
R8017:Pira2	UTSW	7	3,844,696 (GRCm39)	missense	probably benign
R8017:Pira2	UTSW	7	3,844,696 (GRCm39)	missense	probably benign
R8019:Pira2	UTSW	7	3,844,696 (GRCm39)	missense	probably benign
R8389:Pira2	UTSW	7	3,846,888 (GRCm39)	missense	probably damaging	1.00
R8972:Pira2	UTSW	7	3,845,070 (GRCm39)	missense	probably damaging	1.00
R8998:Pira2	UTSW	7	3,845,490 (GRCm39)	missense	probably damaging	1.00
R9350:Pira2	UTSW	7	3,844,030 (GRCm39)	missense	probably benign	0.04
R9766:Pira2	UTSW	7	3,845,517 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- TGGAGTGTCATGTTCCCTCC -3'
(R):5'- TCTGTGATCACCTCCAAAAGAGC -3'

Sequencing Primer
(F):5'- CTGTCACCACAGGGCTG -3'
(R):5'- CATCTGGTGTCAGGGGAAC -3'

Posted On

2020-08-01