Mutagenetix > Incidental Mutation

Incidental Mutation 'R5343:Pilrb2'

422437

Institutional Source

Beutler Lab

Gene Symbol

Pilrb2

Ensembl Gene

ENSMUSG00000066682

Gene Name

paired immunoglobin-like type 2 receptor beta 2

Synonyms

EG545812

MMRRC Submission

042922-MU

Accession Numbers

Essential gene?

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

Stock #

R5343 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137864089-137870077 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137869228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 124 (E124V)

Ref Sequence

ENSEMBL: ENSMUSP00000143064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164886] [ENSMUST00000196162] [ENSMUST00000199773]

AlphaFold

Q2YFS1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164886
AA Change: E124V

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131233
Gene: ENSMUSG00000066682
AA Change: E124V

Domain	Start	End	E-Value	Type
IG	45	156	2.38e0	SMART
Blast:IG_like	192	221	3e-6	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196162
AA Change: E124V

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143064
Gene: ENSMUSG00000066682
AA Change: E124V

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
IG	45	156	9.7e-3	SMART
Blast:IG_like	192	221	3e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197411

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197672

Predicted Effect

probably benign
Transcript: ENSMUST00000198024

Predicted Effect

unknown
Transcript: ENSMUST00000199247
AA Change: E40V

Predicted Effect

probably benign
Transcript: ENSMUST00000199773

SMART Domains

Protein: ENSMUSP00000142492
Gene: ENSMUSG00000066682

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200060

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310039H08Rik	C	A	17: 47,083,962 (GRCm39)	A75E	probably damaging	Het
Adck5	G	A	15: 76,479,780 (GRCm39)	R560H	probably damaging	Het
Ahctf1	A	T	1: 179,598,199 (GRCm39)	Y964*	probably null	Het
Alg8	T	C	7: 97,036,126 (GRCm39)	I339T	possibly damaging	Het
Alox5	T	C	6: 116,390,468 (GRCm39)	D503G	possibly damaging	Het
Camk4	A	G	18: 33,211,122 (GRCm39)	T76A	probably damaging	Het
Cdh3	T	C	8: 107,279,568 (GRCm39)	V728A	probably benign	Het
Chd4	T	A	6: 125,097,326 (GRCm39)	N1326K	probably damaging	Het
Cnn1	A	T	9: 22,016,706 (GRCm39)	Y48F	probably benign	Het
Dnah6	T	A	6: 73,189,599 (GRCm39)	E16D	probably benign	Het
Ezh2	A	G	6: 47,553,549 (GRCm39)	L56S	probably damaging	Het
F13b	T	C	1: 139,438,282 (GRCm39)	V299A	possibly damaging	Het
Hydin	T	C	8: 111,212,051 (GRCm39)	S1279P	probably benign	Het
Ift172	T	C	5: 31,421,156 (GRCm39)	M981V	probably benign	Het
Inava	G	T	1: 136,153,180 (GRCm39)	H237Q	probably benign	Het
Lpl	T	A	8: 69,348,389 (GRCm39)	V206E	probably damaging	Het
Mre11a	A	G	9: 14,723,130 (GRCm39)	D368G	probably damaging	Het
Mreg	G	A	1: 72,200,117 (GRCm39)	P191L	probably damaging	Het
Mtif2	G	T	11: 29,486,964 (GRCm39)	A134S	probably damaging	Het
Mxd4	T	C	5: 34,335,074 (GRCm39)	S114G	probably benign	Het
Myo1b	T	C	1: 51,817,696 (GRCm39)	Q522R	probably benign	Het
Ncapd3	GGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTG	9: 26,999,349 (GRCm39)		probably benign	Het
Ninl	T	C	2: 150,813,110 (GRCm39)	E182G	probably benign	Het
Notch3	T	C	17: 32,362,257 (GRCm39)	N1456S	probably benign	Het
Npr1	G	T	3: 90,365,515 (GRCm39)	N648K	possibly damaging	Het
Oas3	A	G	5: 120,894,303 (GRCm39)	S1016P	possibly damaging	Het
Or10a3	C	T	7: 108,480,205 (GRCm39)	V203M	possibly damaging	Het
Or9i14	T	C	19: 13,792,324 (GRCm39)	N210S	probably damaging	Het
Palld	A	G	8: 62,002,849 (GRCm39)		probably benign	Het
Patj	T	G	4: 98,564,430 (GRCm39)	I1021S	probably damaging	Het
Pfpl	T	A	19: 12,406,052 (GRCm39)	L101Q	probably damaging	Het
Pomk	A	G	8: 26,473,044 (GRCm39)	F303S	probably benign	Het
Rap1gap2	A	T	11: 74,332,611 (GRCm39)	S65T	probably damaging	Het
Sema3a	G	A	5: 13,523,373 (GRCm39)	C114Y	probably damaging	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Spry4	A	T	18: 38,723,028 (GRCm39)	V245E	probably damaging	Het
Srrt	T	C	5: 137,295,427 (GRCm39)	Y271C	probably damaging	Het
Tas2r136	A	G	6: 132,755,043 (GRCm39)	V28A	probably benign	Het
Tenm2	A	G	11: 35,960,330 (GRCm39)	V998A	probably benign	Het
Trim37	A	G	11: 87,028,429 (GRCm39)	E46G	probably damaging	Het
Ubiad1	A	G	4: 148,520,892 (GRCm39)	V244A	possibly damaging	Het

Other mutations in Pilrb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02271:Pilrb2	APN	5	137,865,125 (GRCm39)	missense	probably benign	0.09
R0220:Pilrb2	UTSW	5	137,869,459 (GRCm39)	missense	probably benign	0.00
R1126:Pilrb2	UTSW	5	137,869,222 (GRCm39)	missense	probably damaging	1.00
R1599:Pilrb2	UTSW	5	137,866,859 (GRCm39)	missense	possibly damaging	0.93
R1623:Pilrb2	UTSW	5	137,869,510 (GRCm39)	missense	probably damaging	1.00
R2438:Pilrb2	UTSW	5	137,869,175 (GRCm39)	missense	probably benign	0.00
R6792:Pilrb2	UTSW	5	137,866,852 (GRCm39)	missense	possibly damaging	0.76
R6974:Pilrb2	UTSW	5	137,870,049 (GRCm39)	start gained	probably benign
R7209:Pilrb2	UTSW	5	137,869,126 (GRCm39)	critical splice donor site	probably null
R8124:Pilrb2	UTSW	5	137,869,306 (GRCm39)	missense	probably damaging	1.00
R9425:Pilrb2	UTSW	5	137,866,964 (GRCm39)	missense	probably benign	0.00
R9446:Pilrb2	UTSW	5	137,869,429 (GRCm39)	missense	possibly damaging	0.87
R9508:Pilrb2	UTSW	5	137,869,261 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACAAGGGAAGTGCTGTTGGC -3'
(R):5'- TTAGCCAAGGATCCACAGATG -3'

Sequencing Primer
(F):5'- AGCTCAGAGTTATGAAGCCTG -3'
(R):5'- TCCACAGATGAGCATAGCCTGG -3'

Posted On

2016-08-04