Mutagenetix > Incidental Mutation

Incidental Mutation 'R5099:Prr22'

388193

Institutional Source

Beutler Lab

Gene Symbol

Prr22

Ensembl Gene

ENSMUSG00000090273

Gene Name

proline rich 22

Synonyms

LOC224908, Gm546

MMRRC Submission

042688-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R5099 (G1)

Quality Score

170

Status

Validated

Chromosome

Chromosomal Location

56770250-56772208 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56771467 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 207 (F207L)

Ref Sequence

ENSEMBL: ENSMUSP00000127457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002444] [ENSMUST00000007747] [ENSMUST00000086801] [ENSMUST00000168666]

AlphaFold

F6TNE3

Predicted Effect

probably benign
Transcript: ENSMUST00000002444

SMART Domains

Protein: ENSMUSP00000002444
Gene: ENSMUSG00000024206

Domain	Start	End	E-Value	Type
Pfam:RFX1_trans_act	4	149	1.9e-50	PFAM
Pfam:RFX_DNA_binding	192	269	4.3e-36	PFAM
Blast:HisKA	479	542	1e-31	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000007747

SMART Domains

Protein: ENSMUSP00000007747
Gene: ENSMUSG00000007603

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Blast:ZnF_C3H1	109	136	2e-6	BLAST
Blast:ZnF_C3H1	146	172	6e-9	BLAST
Pfam:Dus	295	566	2e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000086801

SMART Domains

Protein: ENSMUSP00000084010
Gene: ENSMUSG00000024206

Domain	Start	End	E-Value	Type
Pfam:RFX1_trans_act	1	151	6.8e-56	PFAM
Pfam:RFX_DNA_binding	161	246	6e-41	PFAM
Blast:HisKA	454	517	1e-31	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000168666
AA Change: F207L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127457
Gene: ENSMUSG00000090273
AA Change: F207L

Domain	Start	End	E-Value	Type
low complexity region	22	35	N/A	INTRINSIC
Pfam:PRR22	58	422	2.3e-169	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187612

Meta Mutation Damage Score

0.0773

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	T	C	19: 11,112,461 (GRCm38)		probably null	Het
Arsa	A	G	15: 89,475,339 (GRCm38)	L80P	probably damaging	Het
Bdkrb1	A	G	12: 105,604,274 (GRCm38)	D33G	probably benign	Het
Ccdc178	A	T	18: 22,105,591 (GRCm38)	V323E	probably benign	Het
Ceacam5	T	C	7: 17,745,588 (GRCm38)	V210A	probably damaging	Het
Dcdc2a	A	G	13: 25,107,698 (GRCm38)	E222G	probably benign	Het
Gbp9	A	T	5: 105,094,513 (GRCm38)	L120Q	probably damaging	Het
Gm4787	G	C	12: 81,377,830 (GRCm38)	T518S	probably benign	Het
Gsr	T	A	8: 33,671,528 (GRCm38)	I121N	probably damaging	Het
Ift140	T	A	17: 25,090,700 (GRCm38)	M1068K	probably damaging	Het
Jakmip2	A	G	18: 43,568,108 (GRCm38)	I414T	probably benign	Het
Lpin2	G	A	17: 71,243,970 (GRCm38)	W708*	probably null	Het
Mecom	A	G	3: 29,985,316 (GRCm38)		probably benign	Het
Mff	C	T	1: 82,750,471 (GRCm38)		probably benign	Het
Neb	C	T	2: 52,195,448 (GRCm38)	C1545Y	probably damaging	Het
Olfr1083-ps	A	T	2: 86,607,216 (GRCm38)	N118K	unknown	Het
Olfr206	C	T	16: 59,344,903 (GRCm38)	G266D	probably benign	Het
Olfr467	A	G	7: 107,814,602 (GRCm38)	H6R	probably benign	Het
Ppm1n	A	T	7: 19,277,978 (GRCm38)	L392Q	possibly damaging	Het
Ptprv	T	C	1: 135,118,854 (GRCm38)		noncoding transcript	Het
Rin2	G	A	2: 145,878,901 (GRCm38)	C718Y	probably damaging	Het
Rpgrip1l	G	A	8: 91,248,722 (GRCm38)	T1089I	probably benign	Het
Scn1a	A	G	2: 66,277,801 (GRCm38)	V1510A	probably damaging	Het
Slfn3	A	T	11: 83,214,938 (GRCm38)	Y587F	probably damaging	Het
Sp2	T	C	11: 96,961,349 (GRCm38)	K250E	probably damaging	Het
Ssu2	A	G	6: 112,359,624 (GRCm38)	S333P	probably benign	Het
Strbp	T	C	2: 37,603,018 (GRCm38)	T419A	probably damaging	Het
Tada2b	A	T	5: 36,476,400 (GRCm38)	M203K	probably benign	Het
Tcrg-V5	G	T	13: 19,192,716 (GRCm38)	C111F	probably damaging	Het
Tmem176b	T	C	6: 48,834,529 (GRCm38)	Y62C	probably benign	Het
Tox	G	T	4: 6,688,958 (GRCm38)	Q469K	probably benign	Het
Tyw5	T	C	1: 57,388,705 (GRCm38)	N243D	probably damaging	Het
Ube2q2	T	A	9: 55,206,023 (GRCm38)		probably benign	Het
Ufl1	C	T	4: 25,275,914 (GRCm38)	R83Q	probably damaging	Het
Unk	A	G	11: 116,059,110 (GRCm38)	Q701R	probably benign	Het
Vmn1r60	A	T	7: 5,544,817 (GRCm38)	C95S	probably damaging	Het
Vmn1r81	A	G	7: 12,260,321 (GRCm38)	I120T	possibly damaging	Het

Other mutations in Prr22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0462:Prr22	UTSW	17	56,770,551 (GRCm38)	unclassified	probably benign
R0787:Prr22	UTSW	17	56,771,072 (GRCm38)	missense	possibly damaging	0.71
R2290:Prr22	UTSW	17	56,771,884 (GRCm38)	missense	probably benign
R4749:Prr22	UTSW	17	56,771,274 (GRCm38)	missense	possibly damaging	0.51
R6268:Prr22	UTSW	17	56,771,587 (GRCm38)	missense	probably damaging	0.98
R6339:Prr22	UTSW	17	56,771,490 (GRCm38)	missense	probably benign	0.02
R6542:Prr22	UTSW	17	56,770,527 (GRCm38)	splice site	probably null
R6951:Prr22	UTSW	17	56,772,028 (GRCm38)	nonsense	probably null
R6991:Prr22	UTSW	17	56,771,345 (GRCm38)	missense	possibly damaging	0.92
R7721:Prr22	UTSW	17	56,771,819 (GRCm38)	missense	possibly damaging	0.92
R8352:Prr22	UTSW	17	56,771,311 (GRCm38)	missense	probably damaging	1.00
R8452:Prr22	UTSW	17	56,771,311 (GRCm38)	missense	probably damaging	1.00
R9479:Prr22	UTSW	17	56,771,335 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CACATTACCTTCCAGCGGAG -3'
(R):5'- ATCTTCGAGAAGGACCTTGTC -3'

Sequencing Primer
(F):5'- AGGAGCCTGTGCCTGAG -3'
(R):5'- TAGGAAGAACGCACGTGCC -3'

Posted On

2016-06-06