Mutagenetix > Incidental Mutation

Incidental Mutation 'R4749:Prr22'

357441

Institutional Source

Beutler Lab

Gene Symbol

Prr22

Ensembl Gene

ENSMUSG00000090273

Gene Name

proline rich 22

Synonyms

LOC224908, Gm546

MMRRC Submission

041969-MU

Accession Numbers

Essential gene?

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

Stock #

R4749 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56770250-56772208 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 56771274 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 142 (E142D)

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

possibly damaging
Transcript: ENSMUST00000168666
AA Change: E142D

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000127457
Gene: ENSMUSG00000090273
AA Change: E142D

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,215,721 (GRCm38)	D79E	probably benign	Het
Adgra2	A	G	8: 27,114,197 (GRCm38)	K472E	probably damaging	Het
Akap9	A	G	5: 3,968,737 (GRCm38)	D1106G	probably benign	Het
Arhgap35	T	C	7: 16,498,626 (GRCm38)	E1367G	possibly damaging	Het
Arsi	A	T	18: 60,917,461 (GRCm38)	Y472F	probably benign	Het
Asxl3	A	G	18: 22,516,769 (GRCm38)	D605G	probably damaging	Het
Atp6v1e2	C	T	17: 86,944,707 (GRCm38)	D88N	probably benign	Het
BC061237	T	A	14: 44,506,012 (GRCm38)	V169E	probably damaging	Het
C1galt1	A	G	6: 7,866,379 (GRCm38)	E75G	probably benign	Het
C530008M17Rik	T	C	5: 76,858,834 (GRCm38)	V1014A	unknown	Het
C9	G	A	15: 6,489,830 (GRCm38)	V383I	probably benign	Het
Ccdc88a	A	G	11: 29,482,720 (GRCm38)	K222R	probably benign	Het
Ccna2	T	C	3: 36,566,242 (GRCm38)	S421G	probably benign	Het
Cflar	T	G	1: 58,740,272 (GRCm38)	V229G	possibly damaging	Het
Clcn1	A	G	6: 42,290,197 (GRCm38)		probably null	Het
Col14a1	T	A	15: 55,452,336 (GRCm38)	F1342L	unknown	Het
Colq	C	T	14: 31,529,515 (GRCm38)	R313H	possibly damaging	Het
Coro6	A	G	11: 77,469,148 (GRCm38)	E345G	probably damaging	Het
Cyb561	A	G	11: 105,935,882 (GRCm38)	F182L	probably benign	Het
Dap3	A	G	3: 88,926,310 (GRCm38)	S317P	probably benign	Het
Dnah9	G	A	11: 65,834,115 (GRCm38)	A4404V	probably damaging	Het
Dsg4	A	G	18: 20,446,831 (GRCm38)	E31G	possibly damaging	Het
Dsn1	G	A	2: 157,001,740 (GRCm38)	L147F	probably damaging	Het
Dysf	T	C	6: 84,067,008 (GRCm38)	V277A	probably damaging	Het
Eprs	T	A	1: 185,396,130 (GRCm38)	I569K	probably damaging	Het
Erg	T	C	16: 95,361,170 (GRCm38)	N342S	probably damaging	Het
Fam114a1	G	A	5: 65,009,066 (GRCm38)	D247N	probably damaging	Het
Fat2	A	G	11: 55,311,468 (GRCm38)	V260A	probably benign	Het
Foxn4	T	C	5: 114,255,567 (GRCm38)	D497G	probably damaging	Het
Fsip2	A	G	2: 82,989,285 (GRCm38)	I5121V	probably benign	Het
Gcn1l1	T	A	5: 115,614,402 (GRCm38)	D2155E	probably benign	Het
Glra1	C	A	11: 55,536,384 (GRCm38)	D42Y	probably damaging	Het
Gpr171	A	G	3: 59,097,466 (GRCm38)	V296A	probably benign	Het
Grid1	T	A	14: 35,580,687 (GRCm38)	S970T	possibly damaging	Het
Hcn3	A	T	3: 89,150,063 (GRCm38)		probably null	Het
Helb	T	C	10: 120,084,849 (GRCm38)	D1063G	probably benign	Het
Hsd3b3	G	A	3: 98,742,615 (GRCm38)	P131S	probably damaging	Het
Hsp90b1	A	G	10: 86,701,808 (GRCm38)	V211A	probably damaging	Het
Htr2c	A	G	X: 147,193,797 (GRCm38)	T163A	probably benign	Het
Ifi208	T	A	1: 173,695,614 (GRCm38)	D483E	possibly damaging	Het
Kbtbd6	T	A	14: 79,453,287 (GRCm38)	V474E	possibly damaging	Het
Kif21b	T	A	1: 136,144,749 (GRCm38)	Y64*	probably null	Het
Kirrel	C	T	3: 87,089,151 (GRCm38)	M380I	probably null	Het
Map3k10	T	C	7: 27,658,361 (GRCm38)	D664G	possibly damaging	Het
Map3k5	C	A	10: 20,132,052 (GRCm38)	S1201Y	probably benign	Het
Mcm2	T	C	6: 88,891,991 (GRCm38)	E293G	possibly damaging	Het
Med21	T	A	6: 146,650,101 (GRCm38)		probably null	Het
Mettl18	T	C	1: 163,996,785 (GRCm38)	V225A	probably benign	Het
Mmp10	A	T	9: 7,508,168 (GRCm38)	I432F	probably damaging	Het
Muc5b	T	G	7: 141,861,448 (GRCm38)	Y2710*	probably null	Het
Neurl4	A	T	11: 69,911,068 (GRCm38)	I1282F	probably benign	Het
Nipbl	A	T	15: 8,365,829 (GRCm38)	H191Q	possibly damaging	Het
Nktr	A	G	9: 121,741,693 (GRCm38)	D167G	probably damaging	Het
Nrap	A	G	19: 56,380,237 (GRCm38)	I249T	probably damaging	Het
Nsfl1c	A	G	2: 151,509,606 (GRCm38)	T297A	probably benign	Het
Oit3	A	T	10: 59,424,082 (GRCm38)	C500S	probably damaging	Het
Olfr1163	T	A	2: 88,070,612 (GRCm38)	I257L	probably benign	Het
Olfr1238	C	T	2: 89,406,255 (GRCm38)	V275I	probably benign	Het
Olfr1449	C	T	19: 12,935,217 (GRCm38)	H160Y	probably benign	Het
Olfr20	G	A	11: 73,354,496 (GRCm38)	V248M	probably damaging	Het
Olfr731	A	G	14: 50,238,733 (GRCm38)	S51P	probably damaging	Het
Pcnx2	T	C	8: 125,887,588 (GRCm38)	S375G	probably damaging	Het
Phf2	A	T	13: 48,821,709 (GRCm38)		probably null	Het
Piezo1	G	T	8: 122,498,206 (GRCm38)	Q654K	probably damaging	Het
Piezo1	A	T	8: 122,486,939 (GRCm38)	M1739K	possibly damaging	Het
Pml	C	T	9: 58,234,652 (GRCm38)	R299H	probably damaging	Het
Ppp3cb	A	T	14: 20,524,062 (GRCm38)	M236K	probably damaging	Het
Prkch	T	A	12: 73,692,960 (GRCm38)	C203S	probably damaging	Het
Prob1	C	T	18: 35,652,816 (GRCm38)	R795H	possibly damaging	Het
Prss56	C	A	1: 87,185,583 (GRCm38)	A211E	possibly damaging	Het
Qser1	A	C	2: 104,787,304 (GRCm38)	S1054R	probably benign	Het
Rhbdl2	T	C	4: 123,826,901 (GRCm38)		probably null	Het
Rhot2	C	A	17: 25,844,274 (GRCm38)	G19V	probably damaging	Het
Rp1l1	C	T	14: 64,029,800 (GRCm38)	T945M	probably damaging	Het
Ryr3	T	C	2: 112,964,405 (GRCm38)	T121A	possibly damaging	Het
Sdad1	C	T	5: 92,304,977 (GRCm38)	R134Q	possibly damaging	Het
Secisbp2l	C	T	2: 125,740,737 (GRCm38)	G933D	possibly damaging	Het
Sharpin	T	A	15: 76,347,567 (GRCm38)	D314V	probably damaging	Het
Slc14a2	A	T	18: 78,155,581 (GRCm38)	L778Q	probably damaging	Het
Slc29a3	A	G	10: 60,716,326 (GRCm38)	V313A	probably benign	Het
Slc4a11	C	A	2: 130,690,867 (GRCm38)	R222L	probably damaging	Het
Slc7a10	C	T	7: 35,200,762 (GRCm38)	P502S	probably damaging	Het
Sort1	T	G	3: 108,356,323 (GRCm38)	Y812*	probably null	Het
Spata31d1b	G	A	13: 59,718,358 (GRCm38)	V1107M	probably damaging	Het
Tcp10b	G	A	17: 13,070,945 (GRCm38)		probably null	Het
Tmem8	T	C	17: 26,116,783 (GRCm38)	F48S	probably damaging	Het
Tnc	T	C	4: 63,995,639 (GRCm38)	D1312G	possibly damaging	Het
Tomm40l	G	A	1: 171,219,562 (GRCm38)	R296*	probably null	Het
Topors	A	T	4: 40,261,015 (GRCm38)	S756R	unknown	Het
Trim9	T	C	12: 70,248,273 (GRCm38)	N688D	probably damaging	Het
Ube2o	T	C	11: 116,541,908 (GRCm38)	D744G	probably benign	Het
Vmn1r224	A	G	17: 20,419,751 (GRCm38)	I197V	probably benign	Het
Zc3h18	A	T	8: 122,383,643 (GRCm38)	D77V	probably 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
R5099:Prr22	UTSW	17	56,771,467 (GRCm38)	missense	probably benign	0.32
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'- TTGGCCAGTCATCCCTGTAC -3'
(R):5'- TCAATGGGCCTCATGGTCAC -3'

Sequencing Primer
(F):5'- TCATCCCTGTACAAAGTGGCAGTG -3'
(R):5'- TCATGGTCACCTGGGGTC -3'

Posted On

2015-11-11