Mutagenetix > Incidental Mutation

Incidental Mutation 'R6951:Prr22'

541288

Institutional Source

Beutler Lab

Gene Symbol

Prr22

Ensembl Gene

ENSMUSG00000090273

Gene Name

proline rich 22

Synonyms

LOC224908, Gm546

MMRRC Submission

045063-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R6951 (G1)

Quality Score

204.009

Status

Validated

Chromosome

Chromosomal Location

57077276-57079134 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 57079028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 394 (R394*)

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 null
Transcript: ENSMUST00000168666
AA Change: R394*

SMART Domains

Protein: ENSMUSP00000127457
Gene: ENSMUSG00000090273
AA Change: R394*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.0%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd34a	A	G	3: 96,505,738 (GRCm39)	N314S	possibly damaging	Het
Arhgef3	A	T	14: 26,865,975 (GRCm39)		probably benign	Het
Bmp1	T	C	14: 70,746,298 (GRCm39)	R114G	probably benign	Het
Cenpf	A	G	1: 189,385,989 (GRCm39)	L2097P	probably damaging	Het
Cgas	A	G	9: 78,349,840 (GRCm39)	V174A	probably damaging	Het
Dapk2	C	G	9: 66,161,904 (GRCm39)	R271G	probably benign	Het
Dnase2a	A	T	8: 85,636,254 (GRCm39)	N130I	possibly damaging	Het
Dpp10	C	T	1: 123,269,379 (GRCm39)	V677M	possibly damaging	Het
Dsp	G	A	13: 38,351,622 (GRCm39)	C147Y	possibly damaging	Het
Ecpas	A	G	4: 58,853,114 (GRCm39)		probably null	Het
Esyt2	A	G	12: 116,287,750 (GRCm39)	T223A	probably benign	Het
Fndc5	G	A	4: 129,032,573 (GRCm39)	V59I	possibly damaging	Het
Fsip2	A	G	2: 82,812,293 (GRCm39)	T2871A	possibly damaging	Het
H2-Eb1	A	T	17: 34,528,831 (GRCm39)	R121*	probably null	Het
Hydin	A	G	8: 111,124,757 (GRCm39)	I589V	probably benign	Het
Kitl	A	G	10: 99,887,714 (GRCm39)	I48V	probably damaging	Het
Large1	A	G	8: 73,843,047 (GRCm39)	S159P	probably damaging	Het
Lrba	T	C	3: 86,653,180 (GRCm39)	L2570P	probably benign	Het
Mag	G	A	7: 30,610,858 (GRCm39)	T128I	possibly damaging	Het
Mkrn3	G	T	7: 62,068,881 (GRCm39)	D303E	possibly damaging	Het
Myo9a	A	G	9: 59,802,051 (GRCm39)	D1951G	probably damaging	Het
Nup85	C	T	11: 115,473,781 (GRCm39)	T565I	possibly damaging	Het
Or5l13	T	C	2: 87,780,323 (GRCm39)	I85V	possibly damaging	Het
Or8b1d	A	G	9: 38,558,170 (GRCm39)	S217P	probably damaging	Het
Or8b43	A	G	9: 38,360,234 (GRCm39)	D22G	probably benign	Het
Or8k31-ps1	T	C	2: 86,355,993 (GRCm39)	H176R	probably damaging	Het
Pdzrn3	A	T	6: 101,131,153 (GRCm39)		probably null	Het
Picalm	T	A	7: 89,840,583 (GRCm39)	N434K	probably damaging	Het
Platr25	A	C	13: 62,853,562 (GRCm39)	D77E	probably benign	Het
Psg23	A	T	7: 18,348,636 (GRCm39)	L57Q	probably damaging	Het
Rap1gap2	G	A	11: 74,375,774 (GRCm39)	S44L	possibly damaging	Het
Rffl	A	G	11: 82,736,576 (GRCm39)		probably null	Het
Stox2	G	A	8: 47,656,167 (GRCm39)	T103I	probably damaging	Het
Swt1	T	C	1: 151,273,019 (GRCm39)	N543S	possibly damaging	Het
Tep1	C	T	14: 51,071,370 (GRCm39)		probably null	Het
Tln2	A	G	9: 67,165,767 (GRCm39)	Y1023H	probably damaging	Het
Tssk5	C	A	15: 76,257,096 (GRCm39)	R262L	possibly damaging	Het
Ttn	C	T	2: 76,710,986 (GRCm39)		probably benign	Het
Ubtfl1	A	T	9: 18,320,873 (GRCm39)	I134F	probably benign	Het
Unc80	T	C	1: 66,687,670 (GRCm39)	F2351S	possibly damaging	Het
Vps13a	A	T	19: 16,701,104 (GRCm39)	D688E	probably benign	Het

Other mutations in Prr22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0462:Prr22	UTSW	17	57,077,551 (GRCm39)	unclassified	probably benign
R0787:Prr22	UTSW	17	57,078,072 (GRCm39)	missense	possibly damaging	0.71
R2290:Prr22	UTSW	17	57,078,884 (GRCm39)	missense	probably benign
R4749:Prr22	UTSW	17	57,078,274 (GRCm39)	missense	possibly damaging	0.51
R5099:Prr22	UTSW	17	57,078,467 (GRCm39)	missense	probably benign	0.32
R6268:Prr22	UTSW	17	57,078,587 (GRCm39)	missense	probably damaging	0.98
R6339:Prr22	UTSW	17	57,078,490 (GRCm39)	missense	probably benign	0.02
R6542:Prr22	UTSW	17	57,077,527 (GRCm39)	splice site	probably null
R6991:Prr22	UTSW	17	57,078,345 (GRCm39)	missense	possibly damaging	0.92
R7721:Prr22	UTSW	17	57,078,819 (GRCm39)	missense	possibly damaging	0.92
R8352:Prr22	UTSW	17	57,078,311 (GRCm39)	missense	probably damaging	1.00
R8452:Prr22	UTSW	17	57,078,311 (GRCm39)	missense	probably damaging	1.00
R9479:Prr22	UTSW	17	57,078,335 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GATGACTTCCCAACCGACATTC -3'
(R):5'- GGCCTCACCAATGTCTTAGC -3'

Sequencing Primer
(F):5'- TACAGTGTCCCCGAGATCCTAGATG -3'
(R):5'- ACCAATGTCTTAGCAGGCTTG -3'

Posted On

2018-11-28