Mutagenetix > Incidental Mutation

Incidental Mutation 'R1859:Prom2'

204187

Institutional Source

Beutler Lab

Gene Symbol

Prom2

Ensembl Gene

ENSMUSG00000027376

Gene Name

prominin 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1859 (G1)

Quality Score

161

Status

Not validated

Chromosome

Chromosomal Location

127368873-127383337 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 127383017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 75 (Q75P)

Ref Sequence

ENSEMBL: ENSMUSP00000099503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028855] [ENSMUST00000103214]

AlphaFold

Q3UUY6

Predicted Effect

probably damaging
Transcript: ENSMUST00000028855
AA Change: Q75P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028855
Gene: ENSMUSG00000027376
AA Change: Q75P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Prominin	25	808	3.6e-279	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000103214
AA Change: Q75P

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099503
Gene: ENSMUSG00000027376
AA Change: Q75P

Domain	Start	End	E-Value	Type
Pfam:Prominin	18	818	3e-288	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155581

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the prominin family of pentaspan membrane glycoproteins. The encoded protein localizes to basal epithelial cells and may be involved in the organization of plasma membrane microdomains. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutant mice exhibited signs of anemia, with decreased mean red blood cell count and decreased mean hemoglobin and hematocrit levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	C	T	12: 110,637,268 (GRCm39)		probably benign	Het
Adcy10	A	G	1: 165,349,530 (GRCm39)	E467G	probably damaging	Het
Alkbh8	A	G	9: 3,385,499 (GRCm39)	D597G	probably benign	Het
Alpk1	T	A	3: 127,474,749 (GRCm39)	H418L	possibly damaging	Het
Ano5	G	T	7: 51,196,581 (GRCm39)	V138L	probably damaging	Het
Aspg	T	A	12: 112,087,606 (GRCm39)	I319K	possibly damaging	Het
Atp9b	T	C	18: 80,793,135 (GRCm39)	T970A	possibly damaging	Het
Brd10	A	C	19: 29,732,323 (GRCm39)	C230G	possibly damaging	Het
C4b	T	A	17: 34,954,527 (GRCm39)	M881L	probably benign	Het
Cd209c	A	T	8: 3,994,953 (GRCm39)	N70K	probably benign	Het
Cdca5	T	C	19: 6,140,124 (GRCm39)	V95A	possibly damaging	Het
Cds2	A	G	2: 132,144,115 (GRCm39)	Y297C	probably damaging	Het
Celsr2	C	T	3: 108,303,946 (GRCm39)	G2371S	probably damaging	Het
Cemip2	T	C	19: 21,825,341 (GRCm39)	V1213A	possibly damaging	Het
Chd5	T	A	4: 152,464,980 (GRCm39)	I1557N	probably benign	Het
Cntn5	C	T	9: 9,972,839 (GRCm39)	E266K	probably damaging	Het
Crtam	G	A	9: 40,884,900 (GRCm39)	T363M	possibly damaging	Het
Dnah2	A	G	11: 69,328,712 (GRCm39)	S3298P	probably damaging	Het
Dok1	A	T	6: 83,009,226 (GRCm39)	Y209N	probably damaging	Het
Dpp10	T	C	1: 123,281,333 (GRCm39)	D561G	possibly damaging	Het
Drosha	A	G	15: 12,878,804 (GRCm39)	K710R	probably benign	Het
Dse	T	C	10: 34,029,225 (GRCm39)	T622A	probably benign	Het
Duxf4	A	G	10: 58,071,602 (GRCm39)	V204A	probably benign	Het
Ercc6	T	C	14: 32,248,735 (GRCm39)	S429P	probably damaging	Het
Fam135a	A	T	1: 24,069,306 (GRCm39)	V521E	probably damaging	Het
Fbxl7	A	T	15: 26,543,279 (GRCm39)	L456Q	probably damaging	Het
Fbxo38	A	G	18: 62,648,489 (GRCm39)	I683T	probably damaging	Het
Foxc2	G	T	8: 121,843,364 (GRCm39)	R4L	probably damaging	Het
Glyctk	C	T	9: 106,034,731 (GRCm39)	V112I	probably benign	Het
Guf1	G	T	5: 69,725,803 (GRCm39)	G481*	probably null	Het
Heatr1	T	C	13: 12,418,040 (GRCm39)	L324S	probably damaging	Het
Hectd1	A	G	12: 51,853,350 (GRCm39)	L57P	probably damaging	Het
Hmcn1	A	T	1: 150,532,944 (GRCm39)	C3080S	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifit1	T	A	19: 34,624,944 (GRCm39)	F27I	probably benign	Het
Ift20	G	T	11: 78,430,860 (GRCm39)	E68*	probably null	Het
Itsn1	A	G	16: 91,686,042 (GRCm39)		probably benign	Het
Ksr2	T	A	5: 117,553,006 (GRCm39)	L38Q	probably damaging	Het
Lama2	A	T	10: 26,907,078 (GRCm39)	M2361K	possibly damaging	Het
Lrrc56	A	G	7: 140,787,421 (GRCm39)	M353V	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map3k9	A	T	12: 81,771,256 (GRCm39)	S800R	possibly damaging	Het
Mef2a	A	G	7: 66,915,766 (GRCm39)	S179P	probably damaging	Het
Micall1	A	G	15: 79,007,145 (GRCm39)		probably benign	Het
Mpg	A	G	11: 32,181,957 (GRCm39)		probably null	Het
Mpp7	A	T	18: 7,350,967 (GRCm39)	*577K	probably null	Het
Msh4	G	T	3: 153,611,517 (GRCm39)	H35Q	probably benign	Het
Mst1	G	A	9: 107,961,545 (GRCm39)	V601I	probably benign	Het
Myh10	T	A	11: 68,636,239 (GRCm39)	N246K	probably benign	Het
Myom3	C	A	4: 135,506,707 (GRCm39)	N493K	probably benign	Het
Mypn	T	C	10: 62,981,969 (GRCm39)	D537G	probably benign	Het
Ncan	A	T	8: 70,567,998 (GRCm39)	M38K	possibly damaging	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm39)	H277Q	probably benign	Het
Nos1	A	T	5: 118,043,527 (GRCm39)	N601Y	possibly damaging	Het
Nrxn2	G	A	19: 6,538,825 (GRCm39)	V794I	probably benign	Het
Or10q12	T	A	19: 13,746,088 (GRCm39)	Y127*	probably null	Het
Or13a17	T	A	7: 140,271,571 (GRCm39)	V251E	possibly damaging	Het
Or13c7b	A	T	4: 43,820,779 (GRCm39)	I194N	possibly damaging	Het
Or2y17	T	C	11: 49,232,211 (GRCm39)	L284P	probably damaging	Het
Or8h9	T	C	2: 86,789,425 (GRCm39)	I126V	probably damaging	Het
Parp4	T	C	14: 56,886,372 (GRCm39)	V1817A	unknown	Het
Pfdn1	C	A	18: 36,584,153 (GRCm39)	M60I	probably benign	Het
Ppp1r3c	T	C	19: 36,711,011 (GRCm39)	N253S	probably damaging	Het
Prdm5	A	G	6: 65,808,263 (GRCm39)	I42V	probably benign	Het
Ptpn23	T	C	9: 110,217,938 (GRCm39)	D669G	possibly damaging	Het
Rag1	T	C	2: 101,474,407 (GRCm39)	D245G	probably benign	Het
Rpl22l1	T	A	3: 28,860,747 (GRCm39)		probably null	Het
Sars2	T	C	7: 28,443,737 (GRCm39)	V113A	probably damaging	Het
Sbno2	T	A	10: 79,894,473 (GRCm39)	K1067*	probably null	Het
Sec61g	A	G	11: 16,456,371 (GRCm39)		probably null	Het
Slc4a11	A	T	2: 130,529,932 (GRCm39)	M282K	probably benign	Het
Slc5a4a	T	C	10: 76,002,569 (GRCm39)	S242P	probably benign	Het
Sparc	A	T	11: 55,297,334 (GRCm39)		probably null	Het
Thra	T	A	11: 98,646,977 (GRCm39)	C33S	probably damaging	Het
Trrap	A	T	5: 144,767,761 (GRCm39)	T2293S	probably benign	Het
Ttn	T	A	2: 76,724,989 (GRCm39)		probably benign	Het
Vat1l	T	A	8: 114,998,041 (GRCm39)	V195E	probably damaging	Het
Vmn1r60	T	A	7: 5,547,549 (GRCm39)	I184F	possibly damaging	Het
Wdfy4	A	G	14: 32,825,940 (GRCm39)	I1192T	probably damaging	Het
Zbtb10	T	C	3: 9,345,446 (GRCm39)	S737P	possibly damaging	Het
Zfp553	A	G	7: 126,834,517 (GRCm39)	E24G	probably benign	Het
Zscan30	A	G	18: 24,104,524 (GRCm39)		noncoding transcript	Het

Other mutations in Prom2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:Prom2	APN	2	127,383,059 (GRCm39)	missense	probably benign	0.04
IGL01140:Prom2	APN	2	127,373,125 (GRCm39)	splice site	probably benign
IGL01300:Prom2	APN	2	127,377,009 (GRCm39)	missense	probably benign	0.44
IGL01445:Prom2	APN	2	127,381,433 (GRCm39)	splice site	probably benign
IGL01472:Prom2	APN	2	127,374,802 (GRCm39)	missense	probably benign	0.39
IGL01541:Prom2	APN	2	127,371,050 (GRCm39)	critical splice donor site	probably null
IGL01991:Prom2	APN	2	127,371,142 (GRCm39)	missense	probably damaging	1.00
IGL02421:Prom2	APN	2	127,373,802 (GRCm39)	critical splice acceptor site	probably null
IGL02557:Prom2	APN	2	127,371,391 (GRCm39)	missense	possibly damaging	0.85
IGL02724:Prom2	APN	2	127,380,577 (GRCm39)	splice site	probably benign
IGL02826:Prom2	APN	2	127,373,036 (GRCm39)	missense	probably benign	0.07
IGL02830:Prom2	APN	2	127,376,989 (GRCm39)	missense	possibly damaging	0.88
IGL02990:Prom2	APN	2	127,370,734 (GRCm39)	missense	probably benign	0.10
R0110:Prom2	UTSW	2	127,373,033 (GRCm39)	missense	possibly damaging	0.53
R0133:Prom2	UTSW	2	127,380,258 (GRCm39)	splice site	probably benign
R0165:Prom2	UTSW	2	127,381,434 (GRCm39)	splice site	probably benign
R0220:Prom2	UTSW	2	127,383,027 (GRCm39)	missense	probably benign	0.03
R0466:Prom2	UTSW	2	127,370,709 (GRCm39)	missense	probably damaging	0.99
R0505:Prom2	UTSW	2	127,374,787 (GRCm39)	missense	possibly damaging	0.82
R0605:Prom2	UTSW	2	127,381,915 (GRCm39)	critical splice donor site	probably null
R0633:Prom2	UTSW	2	127,381,445 (GRCm39)	missense	probably benign	0.19
R0947:Prom2	UTSW	2	127,380,183 (GRCm39)	missense	possibly damaging	0.69
R1682:Prom2	UTSW	2	127,382,082 (GRCm39)	missense	possibly damaging	0.90
R1806:Prom2	UTSW	2	127,374,802 (GRCm39)	missense	probably damaging	1.00
R1864:Prom2	UTSW	2	127,381,707 (GRCm39)	missense	probably benign	0.00
R1866:Prom2	UTSW	2	127,378,514 (GRCm39)	missense	probably damaging	0.99
R3824:Prom2	UTSW	2	127,377,593 (GRCm39)	splice site	probably benign
R4472:Prom2	UTSW	2	127,382,111 (GRCm39)	missense	probably benign	0.06
R5078:Prom2	UTSW	2	127,373,757 (GRCm39)	missense	probably benign	0.00
R5889:Prom2	UTSW	2	127,371,331 (GRCm39)	missense	possibly damaging	0.79
R5930:Prom2	UTSW	2	127,372,053 (GRCm39)	nonsense	probably null
R6214:Prom2	UTSW	2	127,381,695 (GRCm39)	critical splice donor site	probably null
R6215:Prom2	UTSW	2	127,381,695 (GRCm39)	critical splice donor site	probably null
R6914:Prom2	UTSW	2	127,372,295 (GRCm39)	missense	possibly damaging	0.78
R7099:Prom2	UTSW	2	127,381,698 (GRCm39)	missense	probably benign
R7427:Prom2	UTSW	2	127,381,731 (GRCm39)	missense	probably damaging	0.99
R7428:Prom2	UTSW	2	127,381,731 (GRCm39)	missense	probably damaging	0.99
R7525:Prom2	UTSW	2	127,374,701 (GRCm39)	missense	probably benign
R8477:Prom2	UTSW	2	127,381,124 (GRCm39)	missense	probably benign	0.01
R9287:Prom2	UTSW	2	127,380,185 (GRCm39)	missense	probably damaging	0.98
R9337:Prom2	UTSW	2	127,371,094 (GRCm39)	missense	probably damaging	0.99
Z1176:Prom2	UTSW	2	127,374,695 (GRCm39)	missense	probably damaging	1.00
Z1177:Prom2	UTSW	2	127,381,446 (GRCm39)	missense	probably benign	0.19
Z1177:Prom2	UTSW	2	127,380,225 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGCTTCTCGAATCTAATAACG -3'
(R):5'- TTTGTAGAGCCACAGGGACG -3'

Sequencing Primer
(F):5'- GCTTCTCGAATCTAATAACGTGTGG -3'
(R):5'- CTACAGAAGGATGCACGGCC -3'

Posted On

2014-06-23